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rs104895548

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104895548(G;G)
Make rs104895548(G;T)
ReferenceGRCh37.p10 37.5/138
Chromosome19
Position55450994
GeneNLRP7
is asnp
is mentioned by
dbSNPrs104895548
ebirs104895548
HLIrs104895548
Exacrs104895548
Varsomers104895548
Maprs104895548
PheGenIrs104895548
hapmaprs104895548
1000 genomesrs104895548
hgdprs104895548
ensemblrs104895548
gopubmedrs104895548
geneviewrs104895548
scholarrs104895548
googlers104895548
pharmgkbrs104895548
gwascentralrs104895548
openSNPrs104895548
23andMers104895548
23andMe allrs104895548
SNP Nexus

SNPshotrs104895548
SNPdbers104895548
MSV3drs104895548
GWAS Ctlgrs104895548
Max Magnitude0
ClinVar
Risk rs104895548(G;G)
Alt rs104895548(G;G)
Reference rs104895548(T;T)
Significance Pathogenic
Disease Hydatidiform mole
Variation info
Gene NLRP7
CLNDBN Hydatidiform mole
Reversed 1
HGVS NC_000019.9:g.55450994A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001659.4,


[PMID 19246479] Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.