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rs104895503

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104895503(A;G)
Make rs104895503(G;G)
ReferenceGRCh37 37.1/132
Chromosome19
Position55441939
GeneNLRP7
is asnp
is mentioned by
dbSNPrs104895503
ebirs104895503
HLIrs104895503
Exacrs104895503
Varsomers104895503
Maprs104895503
PheGenIrs104895503
hapmaprs104895503
1000 genomesrs104895503
hgdprs104895503
ensemblrs104895503
gopubmedrs104895503
geneviewrs104895503
scholarrs104895503
googlers104895503
pharmgkbrs104895503
gwascentralrs104895503
openSNPrs104895503
23andMers104895503
23andMe allrs104895503
SNP Nexus

SNPshotrs104895503
SNPdbers104895503
MSV3drs104895503
GWAS Ctlgrs104895503
GMAF0.001837
Max Magnitude0
OMIM609661
Desc
Variant0005
Relatedalso
OMIM231090
Desc
Variant
Relatedalso
ClinVar
Risk rs104895503(G;G)
Alt rs104895503(G;G)
Reference rs104895503(A;A)
Significance Pathogenic
Disease Hydatidiform mole
Variation info
Gene NLRP7
CLNDBN Hydatidiform mole
Reversed 1
HGVS NC_000019.9:g.55441939T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001655.5,


[PMID 16462743] Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.