rs121909747

Orientation

minus

Stabilized

minus

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

Make rs121909747(C;C)

Make rs121909747(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

170999069

Gene

SLC2A2

is a	snp
is	mentioned by
dbSNP	rs121909747
dbSNP (classic)	rs121909747
ClinGen	rs121909747
ebi	rs121909747
HLI	rs121909747
Exac	rs121909747
Gnomad	rs121909747
Varsome	rs121909747
LitVar	rs121909747
Map	rs121909747
PheGenI	rs121909747
Biobank	rs121909747
1000 genomes	rs121909747
hgdp	rs121909747
ensembl	rs121909747
geneview	rs121909747
scholar	rs121909747
google	rs121909747
pharmgkb	rs121909747
gwascentral	rs121909747
openSNP	rs121909747
23andMe	rs121909747
SNPshot	rs121909747
SNPdbe	rs121909747
MSV3d	rs121909747
GWAS Ctlg	rs121909747

Max Magnitude

0

OMIM	138160
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121909747(C;C) rs121909747(G;G)
Alt	rs121909747(C;C) rs121909747(G;G)
Reference	Rs121909747(T;T)
Significance	Pathogenic
Disease	Fanconi-Bickel syndrome
Variation	info
Gene	SLC2A2
CLNDBN	Fanconi-Bickel syndrome
Reversed	1
HGVS	NC_000003.11:g.170716858A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017484.29,