rs80338795

Orientation

minus

Stabilized

minus

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

Make rs80338795(A;G)

Make rs80338795(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

73641810

Gene

SLC17A5

is a	snp
is	mentioned by
dbSNP	rs80338795
dbSNP (classic)	rs80338795
ClinGen	rs80338795
ebi	rs80338795
HLI	rs80338795
Exac	rs80338795
Gnomad	rs80338795
Varsome	rs80338795
LitVar	rs80338795
Map	rs80338795
PheGenI	rs80338795
Biobank	rs80338795
1000 genomes	rs80338795
hgdp	rs80338795
ensembl	rs80338795
geneview	rs80338795
scholar	rs80338795
google	rs80338795
pharmgkb	rs80338795
gwascentral	rs80338795
openSNP	rs80338795
23andMe	rs80338795
SNPshot	rs80338795
SNPdbe	rs80338795
MSV3d	rs80338795
GWAS Ctlg	rs80338795

GMAF

0.0004591

Max Magnitude

0

OMIM	604322
Desc
Variant	0009
Related	also

ClinVar
Risk	rs80338795(G;G) rs80338795(T;T)
Alt	rs80338795(G;G) rs80338795(T;T)
Reference	Rs80338795(A;A)
Significance	Other
Disease	Salla disease not provided
Variation	info
Gene	SLC17A5
CLNDBN	Salla disease not provided
Reversed	1
HGVS	NC_000006.11:g.74351533T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020682.5, RCV000412731.1,

[PMID 16170568] Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.