Rs104894457

Orientation

minus

is a	snp
is	mentioned by
dbSNP	rs104894457
PheGenI	rs104894457
nextbio	rs104894457
hapmap	rs104894457
1000 genomes	rs104894457
hgdp	rs104894457
ensembl	rs104894457
gopubmed	rs104894457
geneview	rs104894457
scholar	rs104894457
google	rs104894457
pharmgkb	rs104894457
gwascentral	rs104894457
openSNP	rs104894457
23andMe	rs104894457
23andMe all	rs104894457
SNP Nexus
SNPshot	rs104894457
SNPdbe	rs104894457
MSV3d	rs104894457

Gene	MIR4709, NPC2

Chromosome

14

Orientation

minus

Position

74947410

Reference

GRCh37.p5 37.3/137

Max Magnitude

0

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

Make rs104894457(C;T)

Make rs104894457(T;T)

OMIM	601015
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894457(T;T)
Normal	rs104894457(C;C)
Significance	5
Disease	Niemann-Pick disease type C2
ClinVar	info
Gene	NPC2
CLNDBN	Niemann-Pick disease type C2
Reversed	1
CLNHGVS	NC_000014.8:g.74947410G>A
CLNSRC	OMIM Allelic Variant