Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13181
rs13181
0.010 GeneticVariation BEFREE Univariate statistical analyses revealed that patients with <i>ERCC2</i> rs13181 T/G and/or <i>CYP3A4</i> rs2740574 A/G genotypes are more likely to develop alopecia; patients with <i>ERCC2</i> rs238406 C/C genotype may develop leukopenia, and patients with <i>GSTT1</i>-null genotype could develop lymphocytopenia (III-IV). 30914949

2019

dbSNP: rs1878327
rs1878327
0.010 GeneticVariation BEFREE CGCG haplotype was significantly more common in SLE than in HSs. rs4945 was associated with the erythrocyte sedimentation rate and rs1878327 was associated with alopecia, C-reactive protein, complement 3, anti-dsDNA antibody, and high disease activity. rs2271715 and rs3743388 were associated with renal disease, cumulative glucocorticoid dose, and cyclophosphamide and mycophenolate mofetil use. 31811237

2019

dbSNP: rs238406
rs238406
0.010 GeneticVariation BEFREE Univariate statistical analyses revealed that patients with <i>ERCC2</i> rs13181 T/G and/or <i>CYP3A4</i> rs2740574 A/G genotypes are more likely to develop alopecia; patients with <i>ERCC2</i> rs238406 C/C genotype may develop leukopenia, and patients with <i>GSTT1</i>-null genotype could develop lymphocytopenia (III-IV). 30914949

2019

dbSNP: rs2740574
rs2740574
0.010 GeneticVariation BEFREE Univariate statistical analyses revealed that patients with <i>ERCC2</i> rs13181 T/G and/or <i>CYP3A4</i> rs2740574 A/G genotypes are more likely to develop alopecia; patients with <i>ERCC2</i> rs238406 C/C genotype may develop leukopenia, and patients with <i>GSTT1</i>-null genotype could develop lymphocytopenia (III-IV). 30914949

2019

dbSNP: rs3743388
rs3743388
0.010 GeneticVariation BEFREE CGCG haplotype was significantly more common in SLE than in HSs. rs4945 was associated with the erythrocyte sedimentation rate and rs1878327 was associated with alopecia, C-reactive protein, complement 3, anti-dsDNA antibody, and high disease activity. rs2271715 and rs3743388 were associated with renal disease, cumulative glucocorticoid dose, and cyclophosphamide and mycophenolate mofetil use. 31811237

2019

dbSNP: rs4945
rs4945
0.010 GeneticVariation BEFREE CGCG haplotype was significantly more common in SLE than in HSs. rs4945 was associated with the erythrocyte sedimentation rate and rs1878327 was associated with alopecia, C-reactive protein, complement 3, anti-dsDNA antibody, and high disease activity. rs2271715 and rs3743388 were associated with renal disease, cumulative glucocorticoid dose, and cyclophosphamide and mycophenolate mofetil use. 31811237

2019

dbSNP: rs755622
rs755622
0.010 GeneticVariation BEFREE Macrophage migration inhibitory factor polymorphism (rs755622) in alopecia areata: a possible role in disease prevention. 31154458

2019

dbSNP: rs187238
rs187238
0.010 GeneticVariation BEFREE The rs1946518 (-607C>A) and rs187238 (-137G>C) polymorphisms were found associated with alopecia areata disease. 29349811

2018

dbSNP: rs1946518
rs1946518
0.010 GeneticVariation BEFREE The rs1946518 (-607C>A) and rs187238 (-137G>C) polymorphisms were found associated with alopecia areata disease. 29349811

2018

dbSNP: rs116548533
rs116548533
0.010 GeneticVariation BEFREE Without affecting the expression, conformation, nuclear location of VDR or heteridimerization with RXR, VDR-R343H impairs the transactivation activity of VDR on downstream transcription, accounting for HVDRR features with alopecia. 29127362

2017

dbSNP: rs121909800
rs121909800
VDR
0.010 GeneticVariation BEFREE Alopecia was seen only with the p.R391S mutation. 28301319

2017

dbSNP: rs201249971
rs201249971
0.010 GeneticVariation BEFREE Homozygotes for the LIPH c.736T>A (p.C246S) mutation, the most prevalent genotype in Japanese patients, present varying degrees of hair loss; however, determinants of this phenotypic diversity remain elusive. 27375176

2017

dbSNP: rs377423996
rs377423996
VDR
0.010 GeneticVariation BEFREE Without affecting the expression, conformation, nuclear location of VDR or heteridimerization with RXR, VDR-R343H impairs the transactivation activity of VDR on downstream transcription, accounting for HVDRR features with alopecia. 29127362

2017

dbSNP: rs778638622
rs778638622
VDR
0.010 GeneticVariation BEFREE Two different homozygous mutations in the VDR gene were identified in 6 patients: the p.K45E mutation located in the DNA-binding domain (5 patients with alopecia) and a novel p.T415R mutation located in the ligand-binding domain. 28013309

2017

dbSNP: rs191806896
rs191806896
0.010 GeneticVariation BEFREE Sequence analysis identified a novel homozygous missense variant [c.1493C > T (p.Pro498Leu)] in the DSP gene as the underlying genetic cause of non-syndromic alopecia in the family. 26148547

2015

dbSNP: rs761051181
rs761051181
DSP
0.010 GeneticVariation BEFREE Sequence analysis identified a novel homozygous missense variant [c.1493C > T (p.Pro498Leu)] in the DSP gene as the underlying genetic cause of non-syndromic alopecia in the family. 26148547

2015

dbSNP: rs141480813
rs141480813
0.010 GeneticVariation BEFREE We report a unique patient, a 14 year old male from Lazio region, affected by common variable immunodeficiency associated with autoimmune manifestations (alopecia, onychodystrophy) and heterozygote for the S250C variant located in the SAND domain of the autoimmune regulator gene protein. 25068407

2014

dbSNP: rs201868115
rs201868115
0.010 GeneticVariation BEFREE The severe phenotype of complete baldness was seen in only 1 patient with homozygous c.742C>A. 24586639

2014

dbSNP: rs2294020
rs2294020
0.010 GeneticVariation BEFREE These data suggest that rs2294020 SNP of FOXP3 gene and rs378299 SNP of ICOSLG gene are associated with AA and with a reduced expression of the FOXP3 and ICOSLG genes in alopecia patients. 23196741

2014

dbSNP: rs3138869
rs3138869
AR
0.010 GeneticVariation BEFREE We aimed to compare the rs4045402 and rs3138869 polymorphisms prevalence in a group of 69 selected subjects (AGA+PFS) that used finasteride to treat alopecia and developed persistent side effects, with that in a group of 91 untreated subjects with AGA (AGA), and a group of 76 untreated subjects without AGA (NO-AGA). 24855036

2014

dbSNP: rs378299
rs378299
0.010 GeneticVariation BEFREE These data suggest that rs2294020 SNP of FOXP3 gene and rs378299 SNP of ICOSLG gene are associated with AA and with a reduced expression of the FOXP3 and ICOSLG genes in alopecia patients. 23196741

2014

dbSNP: rs6457452
rs6457452
0.010 GeneticVariation BEFREE Association of HSPA1B SNP rs6457452 with Alopecia Areata in the Korean population. 24303776

2014

dbSNP: rs3820706
rs3820706
0.010 GeneticVariation BEFREE We identified an SNP significantly associated with drug-induced grade 2 alopecia (rs3820706 in CACNB4 (calcium channel voltage-dependent subunit beta 4) on 2q23, P = 8.13 × 10(-9), OR = 3.71) and detected several SNPs that showed some suggestive associations by subgroup analyses. 24025145

2013

dbSNP: rs1057517491
rs1057517491
0.010 GeneticVariation BEFREE Cx26-G45E mice displayed reduced viability, hyperkeratosis, scaling, skin folds, and hair loss. 22031297

2011

dbSNP: rs267607477
rs267607477
0.010 GeneticVariation BEFREE The sequence analysis revealed a splice acceptor site mutation (c.IVS8-1G>A) in family A and a missense variant (c.1444G>A, p.Asp482Asn) in family B. Mutations identified in the present study extend the body of evidence implicating the KRT74 gene in the pathogenesis of autosomal dominant hair loss disorders. 21188418

2011