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rs786205875

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786205875(-;-)
Make rs786205875(-;C)
Make rs786205875(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position75985138
GenePOR
is asnp
is mentioned by
dbSNPrs786205875
ebirs786205875
HLIrs786205875
Exacrs786205875
Varsomers786205875
Maprs786205875
PheGenIrs786205875
hapmaprs786205875
1000 genomesrs786205875
hgdprs786205875
ensemblrs786205875
gopubmedrs786205875
geneviewrs786205875
scholarrs786205875
googlers786205875
pharmgkbrs786205875
gwascentralrs786205875
openSNPrs786205875
23andMers786205875
23andMe allrs786205875
SNP Nexus

SNPshotrs786205875
SNPdbers786205875
MSV3drs786205875
GWAS Ctlgrs786205875
Max Magnitude0
ClinVar
Risk rs786205875(C;C)
Alt rs786205875(C;C)
Reference rs786205875(;)
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.75614456dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000018410.28,