rs879253740

Orientation

minus

Stabilized

minus

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

Make rs879253740(C;C)

Make rs879253740(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

14

Position

74493191

Gene	ISCA2, NPC2

is a	snp
is	mentioned by
dbSNP	rs879253740
dbSNP (classic)	rs879253740
ClinGen	rs879253740
ebi	rs879253740
HLI	rs879253740
Exac	rs879253740
Gnomad	rs879253740
Varsome	rs879253740
LitVar	rs879253740
Map	rs879253740
PheGenI	rs879253740
Biobank	rs879253740
1000 genomes	rs879253740
hgdp	rs879253740
ensembl	rs879253740
geneview	rs879253740
scholar	rs879253740
google	rs879253740
pharmgkb	rs879253740
gwascentral	rs879253740
openSNP	rs879253740
23andMe	rs879253740
SNPshot	rs879253740
SNPdbe	rs879253740
MSV3d	rs879253740
GWAS Ctlg	rs879253740

Max Magnitude

0

ClinVar
Risk	rs879253740(C;C)
Alt	rs879253740(C;C)
Reference	Rs879253740(T;T)
Significance	Pathogenic
Disease	Niemann-Pick disease type C2
Variation	info
Gene	ISCA2 NPC2
CLNDBN	Niemann-Pick disease type C2
Reversed	1
HGVS	NC_000014.8:g.74959894A>G
CLNSRC
CLNACC	RCV000234869.1,