Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119481075
rs119481075
HSD17B3
0.710 GeneticVariation BEFREE A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females. 8626842

1996
dbSNP: rs119481075
rs119481075
HSD17B3
T 0.710 CausalMutation CLINVAR

dbSNP: rs119481076
rs119481076
HSD17B3
A 0.700 CausalMutation CLINVAR

dbSNP: rs119481077
rs119481077
HSD17B3
A 0.700 CausalMutation CLINVAR

dbSNP: rs144809928
rs144809928
HSD17B3
A 0.700 CausalMutation CLINVAR

dbSNP: rs149607031
rs149607031
HSD17B3
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554694264
rs1554694264
HSD17B3 ; HSD17B3-AS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554694678
rs1554694678
HSD17B3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554705693
rs1554705693
HSD17B3
C 0.700 CausalMutation CLINVAR

dbSNP: rs201115371
rs201115371
HSD17B3
A 0.700 CausalMutation CLINVAR

dbSNP: rs372027264
rs372027264
HSD17B3
T 0.700 CausalMutation CLINVAR

dbSNP: rs747724352
rs747724352
HSD17B3
T 0.700 CausalMutation CLINVAR

dbSNP: rs750481017
rs750481017
LHCGR ; GTF2A1L ; STON1-GTF2A1L
C 0.700 CausalMutation CLINVAR

dbSNP: rs767765046
rs767765046
HSD17B3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs773720185
rs773720185
HSD17B3 ; HSD17B3-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs9332967
rs9332967
SRD5A2
0.010 GeneticVariation BEFREE We found an SRD5A2 gene mutation in exon 5, where arginine is substituted with glutamine (R246Q), in two males with pseudohermaphroditism and ambiguous genitalia from unrelated families. 18097518

2008
dbSNP: rs759563175
rs759563175
CYP19A1 ; MIR4713HG
0.010 GeneticVariation BEFREE Here we report a novel homozygous aromatase mutation (Val370-to-Met) found in a girl with pseudohermaphroditism (Prader V). 9829218

1999
dbSNP: rs149698797
rs149698797
HSD17B7
0.010 GeneticVariation BEFREE A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females. 8626842

1996
dbSNP: rs762681512
rs762681512
HSD17B13
0.010 GeneticVariation BEFREE A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females. 8626842

1996
dbSNP: rs757033996
rs757033996
HSD3B2
0.010 GeneticVariation BEFREE Two males from a consanguineous family were found to be homozygous for A82T and were affected with pseudohermaphroditism. 8185809

1994