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rs104894767

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894767(A;A)
Make rs104894767(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position50915966
GeneBMP15
is asnp
is mentioned by
dbSNPrs104894767
dbSNP (classic)rs104894767
ClinGenrs104894767
ebirs104894767
HLIrs104894767
Exacrs104894767
Gnomadrs104894767
Varsomers104894767
LitVarrs104894767
Maprs104894767
PheGenIrs104894767
Biobankrs104894767
1000 genomesrs104894767
hgdprs104894767
ensemblrs104894767
geneviewrs104894767
scholarrs104894767
googlers104894767
pharmgkbrs104894767
gwascentralrs104894767
openSNPrs104894767
23andMers104894767
SNPshotrs104894767
SNPdbers104894767
MSV3drs104894767
GWAS Ctlgrs104894767
GMAF0.001209
Max Magnitude0
OMIM300247
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894767(A;A) rs104894767(T;T)
Alt rs104894767(A;A) rs104894767(T;T)
Reference Rs104894767(G;G)
Significance Pathogenic
Disease Premature ovarian failure 4 Ovarian Dysgenesis
Variation info
Gene BMP15
CLNDBN Premature ovarian failure 4 Ovarian Dysgenesis
Reversed 0
HGVS NC_000023.10:g.50658966G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012227.2, RCV000380015.1,