rs104894457

Orientation

minus

Stabilized

minus

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

Make rs104894457(C;T)

Make rs104894457(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

74480707

Gene	MIR4709, NPC2

is a	snp
is	mentioned by
dbSNP	rs104894457
dbSNP (classic)	rs104894457
ClinGen	rs104894457
ebi	rs104894457
HLI	rs104894457
Exac	rs104894457
Gnomad	rs104894457
Varsome	rs104894457
LitVar	rs104894457
Map	rs104894457
PheGenI	rs104894457
Biobank	rs104894457
1000 genomes	rs104894457
hgdp	rs104894457
ensembl	rs104894457
geneview	rs104894457
scholar	rs104894457
google	rs104894457
pharmgkb	rs104894457
gwascentral	rs104894457
openSNP	rs104894457
23andMe	rs104894457
SNPshot	rs104894457
SNPdbe	rs104894457
MSV3d	rs104894457
GWAS Ctlg	rs104894457

Max Magnitude

0

OMIM	601015
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894457(T;T)
Alt	rs104894457(T;T)
Reference	Rs104894457(C;C)
Significance	Pathogenic
Disease	Niemann-Pick disease type C2
Variation	info
Gene	MIR4709 NPC2
CLNDBN	Niemann-Pick disease type C2
Reversed	1
HGVS	NC_000014.8:g.74947410G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009006.3,