Have questions? Visit https://www.reddit.com/r/SNPedia

rs75398746

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs75398746(A;A)
Make rs75398746(A;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position85308188
GenePOF1B
is asnp
is mentioned by
dbSNPrs75398746
dbSNP (classic)rs75398746
ClinGenrs75398746
ebirs75398746
HLIrs75398746
Exacrs75398746
Gnomadrs75398746
Varsomers75398746
LitVarrs75398746
Maprs75398746
PheGenIrs75398746
Biobankrs75398746
1000 genomesrs75398746
hgdprs75398746
ensemblrs75398746
geneviewrs75398746
scholarrs75398746
googlers75398746
pharmgkbrs75398746
gwascentralrs75398746
openSNPrs75398746
23andMers75398746
SNPshotrs75398746
SNPdbers75398746
MSV3drs75398746
GWAS Ctlgrs75398746
GMAF0.003628
Max Magnitude0
OMIM300603
Desc
Variant0001
Relatedalso
ClinVar
Risk rs75398746(A;A)
Alt rs75398746(A;A)
Reference Rs75398746(G;G)
Significance Pathogenic
Disease Premature ovarian failure 2b
Variation info
Gene POF1B
CLNDBN Premature ovarian failure 2b
Reversed 1
HGVS NC_000023.10:g.84563194C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011541.9,