rs104895530

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs104895530(C;T)

Make rs104895530(T;T)

Reference

GRCh37 37.1/132

Chromosome

19

Position

54939525

Gene

NLRP7

is a	snp
is	mentioned by
dbSNP	rs104895530
dbSNP (classic)	rs104895530
ClinGen	rs104895530
ebi	rs104895530
HLI	rs104895530
Exac	rs104895530
Gnomad	rs104895530
Varsome	rs104895530
LitVar	rs104895530
Map	rs104895530
PheGenI	rs104895530
Biobank	rs104895530
1000 genomes	rs104895530
hgdp	rs104895530
ensembl	rs104895530
geneview	rs104895530
scholar	rs104895530
google	rs104895530
pharmgkb	rs104895530
gwascentral	rs104895530
openSNP	rs104895530
23andMe	rs104895530
SNPshot	rs104895530
SNPdbe	rs104895530
MSV3d	rs104895530
GWAS Ctlg	rs104895530

Max Magnitude

0

OMIM	609661
Desc
Variant	0006
Related	also

OMIM	231090
Desc
Variant
Related	also

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.