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rs786205099

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205099(A;A)
Make rs786205099(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position75981607
GenePOR
is asnp
is mentioned by
dbSNPrs786205099
ebirs786205099
HLIrs786205099
Exacrs786205099
Varsomers786205099
Maprs786205099
PheGenIrs786205099
hapmaprs786205099
1000 genomesrs786205099
hgdprs786205099
ensemblrs786205099
gopubmedrs786205099
geneviewrs786205099
scholarrs786205099
googlers786205099
pharmgkbrs786205099
gwascentralrs786205099
openSNPrs786205099
23andMers786205099
23andMe allrs786205099
SNP Nexus

SNPshotrs786205099
SNPdbers786205099
MSV3drs786205099
GWAS Ctlgrs786205099
Max Magnitude0
ClinVar
Risk rs786205099(A;A)
Alt rs786205099(A;A)
Reference rs786205099(G;G)
Significance Pathogenic
Disease Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Variation info
Gene POR
CLNDBN Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Reversed 0
HGVS NC_000007.13:g.75610925G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018404.30,