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rs104895530

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104895530(C;T)
Make rs104895530(T;T)
ReferenceGRCh37 37.1/132
Chromosome19
Position55450893
GeneNLRP7
is asnp
is mentioned by
dbSNPrs104895530
ebirs104895530
HLIrs104895530
Exacrs104895530
Varsomers104895530
Maprs104895530
PheGenIrs104895530
hapmaprs104895530
1000 genomesrs104895530
hgdprs104895530
ensemblrs104895530
gopubmedrs104895530
geneviewrs104895530
scholarrs104895530
googlers104895530
pharmgkbrs104895530
gwascentralrs104895530
openSNPrs104895530
23andMers104895530
23andMe allrs104895530
SNP Nexus

SNPshotrs104895530
SNPdbers104895530
MSV3drs104895530
GWAS Ctlgrs104895530
Max Magnitude0
OMIM609661
Desc
Variant0006
Relatedalso
OMIM231090
Desc
Variant
Relatedalso
ClinVar
Risk rs104895530(T;T)
Alt rs104895530(T;T)
Reference rs104895530(C;C)
Significance Pathogenic
Disease Hydatidiform mole
Variation info
Gene NLRP7
CLNDBN Hydatidiform mole
Reversed 1
HGVS NC_000019.9:g.55450893G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001656.3,


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