Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112550005
rs112550005
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1218912272
rs1218912272
FLG ; FLG-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121912856
rs121912856
COL7A1
C 0.700 CausalMutation CLINVAR

dbSNP: rs137854466
rs137854466
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs28934906
rs28934906
MECP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs765243124
rs765243124
COL17A1
G 0.700 CausalMutation CLINVAR

dbSNP: rs780261665
rs780261665
COL7A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1230361416
rs1230361416
OPA1
0.010 GeneticVariation BEFREE Correction to: Disease-linked connexin26 S17F promotes volar skin abnormalities and mild wound healing defects in mice. 29795380

2018
dbSNP: rs1457403673
rs1457403673
KRT14
0.010 GeneticVariation BEFREE Disease-linked connexin26 S17F promotes volar skin abnormalities and mild wound healing defects in mice. 28569788

2017
dbSNP: rs28929485
rs28929485
GJB2
0.010 GeneticVariation BEFREE Disease-linked connexin26 S17F promotes volar skin abnormalities and mild wound healing defects in mice. 28569788

2017
dbSNP: rs104894133
rs104894133
XPA
0.010 GeneticVariation BEFREE A biallelic inactivating transition mutation c.619C>T (p.Arg207Ter) was identified in only one patient with a history of neurological impairment and mild skin abnormalities. 25913378

2015
dbSNP: rs1393142163
rs1393142163
CTNNA3
0.010 GeneticVariation BEFREE Genetic and clinical investigation of probands' families revealed that p.D179G homozygous carriers displayed severe forms of biventricular cardiomyopathy without hair or skin abnormalities. 26310507

2015
dbSNP: rs760185784
rs760185784
DSC2
0.010 GeneticVariation BEFREE Genetic and clinical investigation of probands' families revealed that p.D179G homozygous carriers displayed severe forms of biventricular cardiomyopathy without hair or skin abnormalities. 26310507

2015
dbSNP: rs1217691063
rs1217691063
MTHFR
0.010 GeneticVariation BEFREE We describe a preterm neonate with Gaucher disease homozygous for R463H mutation in GBA gene who showed severe neurologic signs in addition to refractory thrombocytopenia, hepatosplenomagaly, direct hyperbilirubinemia, facial dysmorphy and ichthyosiform skin abnormalities in addition to having thrombosis in portal and splenic veins possibly due to homozygosity for C677T mutation in MTHFR gene. 21823541

2011
dbSNP: rs80356772
rs80356772
GBA
0.010 GeneticVariation BEFREE We describe a preterm neonate with Gaucher disease homozygous for R463H mutation in GBA gene who showed severe neurologic signs in addition to refractory thrombocytopenia, hepatosplenomagaly, direct hyperbilirubinemia, facial dysmorphy and ichthyosiform skin abnormalities in addition to having thrombosis in portal and splenic veins possibly due to homozygosity for C677T mutation in MTHFR gene. 21823541

2011
dbSNP: rs2066844
rs2066844
NOD2
0.010 GeneticVariation BEFREE Skin abnormalities (other than cutaneous manifestations of Crohn's disease) have not been previously associated with R702W. 18616576

2008