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rs104895549

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104895549(C;T)
Make rs104895549(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome19
Position55449590
GeneNLRP7
is asnp
is mentioned by
dbSNPrs104895549
ebirs104895549
HLIrs104895549
Exacrs104895549
Varsomers104895549
Maprs104895549
PheGenIrs104895549
hapmaprs104895549
1000 genomesrs104895549
hgdprs104895549
ensemblrs104895549
gopubmedrs104895549
geneviewrs104895549
scholarrs104895549
googlers104895549
pharmgkbrs104895549
gwascentralrs104895549
openSNPrs104895549
23andMers104895549
23andMe allrs104895549
SNP Nexus

SNPshotrs104895549
SNPdbers104895549
MSV3drs104895549
GWAS Ctlgrs104895549
Max Magnitude0
ClinVar
Risk rs104895549(T;T)
Alt rs104895549(T;T)
Reference rs104895549(C;C)
Significance Pathogenic
Disease Hydatidiform mole
Variation info
Gene NLRP7
CLNDBN Hydatidiform mole
Reversed 1
HGVS NC_000019.9:g.55449590G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001660.4,


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