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

rs104895506

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104895506(C;T)
Make rs104895506(T;T)
ReferenceGRCh37 37.1/132
Chromosome19
Position55449464
GeneNLRP7
is asnp
is mentioned by
dbSNPrs104895506
ebirs104895506
HLIrs104895506
Exacrs104895506
Varsomers104895506
Maprs104895506
PheGenIrs104895506
hapmaprs104895506
1000 genomesrs104895506
hgdprs104895506
ensemblrs104895506
gopubmedrs104895506
geneviewrs104895506
scholarrs104895506
googlers104895506
pharmgkbrs104895506
gwascentralrs104895506
openSNPrs104895506
23andMers104895506
23andMe allrs104895506
SNP Nexus

SNPshotrs104895506
SNPdbers104895506
MSV3drs104895506
GWAS Ctlgrs104895506
Max Magnitude0
OMIM609661
Desc
Variant0003
Relatedalso
OMIM231090
Desc
Variant
Relatedalso
ClinVar
Risk rs104895506(A,T;A,T)
Alt rs104895506(A,T;A,T)
Reference rs104895506(C;C)
Significance Pathogenic
Disease Hydatidiform mole
Variation info
Gene NLRP7
CLNDBN Hydatidiform mole
Reversed 1
HGVS NC_000019.9:g.55449464G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001653.4,


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