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rs104895502

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104895502(C;C)
Make rs104895502(C;G)
ReferenceGRCh37 37.1/132
Chromosome19
Position55449463
GeneNLRP7
is asnp
is mentioned by
dbSNPrs104895502
ebirs104895502
HLIrs104895502
Exacrs104895502
Varsomers104895502
Maprs104895502
PheGenIrs104895502
hapmaprs104895502
1000 genomesrs104895502
hgdprs104895502
ensemblrs104895502
gopubmedrs104895502
geneviewrs104895502
scholarrs104895502
googlers104895502
pharmgkbrs104895502
gwascentralrs104895502
openSNPrs104895502
23andMers104895502
23andMe allrs104895502
SNP Nexus

SNPshotrs104895502
SNPdbers104895502
MSV3drs104895502
GWAS Ctlgrs104895502
Max Magnitude0
OMIM609661
Desc
Variant0004
Relatedalso
OMIM231090
Desc
Variant
Relatedalso
ClinVar
Risk rs104895502(A,C,T;A,C,T)
Alt rs104895502(A,C,T;A,C,T)
Reference rs104895502(G;G)
Significance Pathogenic
Disease Hydatidiform mole
Variation info
Gene NLRP7
CLNDBN Hydatidiform mole
Reversed 1
HGVS NC_000019.9:g.55449463C>G; NC_000019.9:g.55449463C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001654.3, RCV000001658.4,


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


[PMID 19066229] NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.