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rs786205877

From SNPedia

Merged intors10262966
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205877(A;G)
Make rs786205877(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position75954007
GenePOR
is asnp
is mentioned by
dbSNPrs786205877
dbSNP (classic)rs786205877
ClinGenrs786205877
ebirs786205877
HLIrs786205877
Exacrs786205877
Gnomadrs786205877
Varsomers786205877
LitVarrs786205877
Maprs786205877
PheGenIrs786205877
Biobankrs786205877
1000 genomesrs786205877
hgdprs786205877
ensemblrs786205877
geneviewrs786205877
scholarrs786205877
googlers786205877
pharmgkbrs786205877
gwascentralrs786205877
openSNPrs786205877
23andMers786205877
SNPshotrs786205877
SNPdbers786205877
MSV3drs786205877
GWAS Ctlgrs786205877
StatusMerged into rs10262966
Max Magnitude0
ClinVar
Risk rs786205877(G;G)
Alt rs786205877(G;G)
Reference Rs786205877(A;A)
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_000007.14:g.75954007A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018413.27,