STAR, steroidogenic acute regulatory protein, 6770

N. diseases: 177; N. variants: 39
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852689
rs137852689
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		G 0.810 CausalMutation CLINVAR
dbSNP: rs137852690
rs137852690
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		A 0.810 CausalMutation CLINVAR
dbSNP: rs104894086
rs104894086
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894086
rs104894086
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		A 0.800 CausalMutation CLINVAR
dbSNP: rs747169620
rs747169620
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.800 GeneticVariation UNIPROT
dbSNP: rs104894087
rs104894087
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894089
rs104894089
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1254559989
rs1254559989
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.700 GeneticVariation UNIPROT
dbSNP: rs1298369560
rs1298369560
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1350908961
rs1350908961
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554502668
rs1554502668
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554502732
rs1554502732
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554502986
rs1554502986
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1563268652
rs1563268652
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1563268785
rs1563268785
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs749626865
rs749626865
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs765904696
rs765904696
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs781281145
rs781281145
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		A 0.710 GeneticVariation CLINVAR Q77X and 838delA compound mutations could inactivate the StAR function and give rise to clinically manifest CLAH. 15347444 2004
dbSNP: rs369232492
rs369232492
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		A 0.700 GeneticVariation CLINVAR p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia. 24904850 2013
dbSNP: rs781281145
rs781281145
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.710 GeneticVariation BEFREE Q77X mutation seems to be more common in Chinese CLAH patients. 30400872 2018
dbSNP: rs104894086
rs104894086
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		T 0.800 GeneticVariation CLINVAR A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings. 15546900 2005
dbSNP: rs747169620
rs747169620
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0220663
Disease:
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.010 GeneticVariation BEFREE A multi-mutation of FOXL2, consisting of the expansion of the polyalanine tract from 14 to 24 residues (FOXL2-Ala24), an novel Y186C substitution from c.557A>G, and a synonymous variant (c.505G>A), had a cumulative effect on ovarian phenotypes in BPES patients. 22926839 2012
dbSNP: rs104894086
rs104894086
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.800 GeneticVariation UNIPROT A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia. 10566637 1999
dbSNP: rs1446362214
rs1446362214
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.700 GeneticVariation UNIPROT A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia. 10566637 1999
dbSNP: rs762245736
rs762245736
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0342474
Disease:
Lipoid congenital adrenal hyperplasia 		0.700 GeneticVariation UNIPROT A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia. 10566637 1999