rs104895502

Orientation

minus

Stabilized

minus

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

Make rs104895502(C;C)

Make rs104895502(C;G)

Reference

GRCh37 37.1/132

Chromosome

19

Position

54938095

Gene	NCR1, NLRP7

is a	snp
is	mentioned by
dbSNP	rs104895502
dbSNP (classic)	rs104895502
ClinGen	rs104895502
ebi	rs104895502
HLI	rs104895502
Exac	rs104895502
Gnomad	rs104895502
Varsome	rs104895502
LitVar	rs104895502
Map	rs104895502
PheGenI	rs104895502
Biobank	rs104895502
1000 genomes	rs104895502
hgdp	rs104895502
ensembl	rs104895502
geneview	rs104895502
scholar	rs104895502
google	rs104895502
pharmgkb	rs104895502
gwascentral	rs104895502
openSNP	rs104895502
23andMe	rs104895502
SNPshot	rs104895502
SNPdbe	rs104895502
MSV3d	rs104895502
GWAS Ctlg	rs104895502

Max Magnitude

0

OMIM	609661
Desc
Variant	0004
Related	also

OMIM	231090
Desc
Variant
Related	also

ClinVar
Risk	rs104895502(A;A) rs104895502(C;C) rs104895502(T;T)
Alt	rs104895502(A;A) rs104895502(C;C) rs104895502(T;T)
Reference	Rs104895502(G;G)
Significance	Pathogenic
Disease	Hydatidiform mole
Variation	info
Gene	NLRP7
CLNDBN	Hydatidiform mole
Reversed	1
HGVS	NC_000019.9:g.55449463C>G; NC_000019.9:g.55449463C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001654.3, RCV000001658.4,

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

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