rs119491110

Orientation

minus

Stabilized

minus

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

Make rs119491110(C;G)

Make rs119491110(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

73615425

Gene

SLC17A5

is a	snp
is	mentioned by
dbSNP	rs119491110
dbSNP (classic)	rs119491110
ClinGen	rs119491110
ebi	rs119491110
HLI	rs119491110
Exac	rs119491110
Gnomad	rs119491110
Varsome	rs119491110
LitVar	rs119491110
Map	rs119491110
PheGenI	rs119491110
Biobank	rs119491110
1000 genomes	rs119491110
hgdp	rs119491110
ensembl	rs119491110
geneview	rs119491110
scholar	rs119491110
google	rs119491110
pharmgkb	rs119491110
gwascentral	rs119491110
openSNP	rs119491110
23andMe	rs119491110
SNPshot	rs119491110
SNPdbe	rs119491110
MSV3d	rs119491110
GWAS Ctlg	rs119491110

Max Magnitude

0

OMIM	604322
Desc
Variant	0005
Related	also

ClinVar
Risk	rs119491110(G;G)
Alt	rs119491110(G;G)
Reference	Rs119491110(C;C)
Significance	Pathogenic
Disease	Sialic acid storage disease
Variation	info
Gene	SLC17A5
CLNDBN	Sialic acid storage disease, severe infantile type
Reversed	1
HGVS	NC_000006.11:g.74325148G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005971.3,