rs1057517195

Orientation

plus

Stabilized

plus

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

Make rs1057517195(C;T)

Make rs1057517195(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6391622

Gene

SMPD1

is a	snp
is	mentioned by
dbSNP	rs1057517195
dbSNP (classic)	rs1057517195
ClinGen	rs1057517195
ebi	rs1057517195
HLI	rs1057517195
Exac	rs1057517195
Gnomad	rs1057517195
Varsome	rs1057517195
LitVar	rs1057517195
Map	rs1057517195
PheGenI	rs1057517195
Biobank	rs1057517195
1000 genomes	rs1057517195
hgdp	rs1057517195
ensembl	rs1057517195
geneview	rs1057517195
scholar	rs1057517195
google	rs1057517195
pharmgkb	rs1057517195
gwascentral	rs1057517195
openSNP	rs1057517195
23andMe	rs1057517195
SNPshot	rs1057517195
SNPdbe	rs1057517195
MSV3d	rs1057517195
GWAS Ctlg	rs1057517195

Max Magnitude

0

ClinVar
Risk	rs1057517195(T;T)
Alt	rs1057517195(T;T)
Reference	Rs1057517195(C;C)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease
Variation	info
Gene	SMPD1
CLNDBN	Niemann-Pick disease, type A
Reversed	0
HGVS	NC_000011.9:g.6412852C>T
CLNSRC
CLNACC	RCV000411195.1,