rs193302889

Orientation

minus

Stabilized

minus

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

Make rs193302889(A;A)

Make rs193302889(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

119029289

Gene

SLC37A4

is a	snp
is	mentioned by
dbSNP	rs193302889
dbSNP (classic)	rs193302889
ClinGen	rs193302889
ebi	rs193302889
HLI	rs193302889
Exac	rs193302889
Gnomad	rs193302889
Varsome	rs193302889
LitVar	rs193302889
Map	rs193302889
PheGenI	rs193302889
Biobank	rs193302889
1000 genomes	rs193302889
hgdp	rs193302889
ensembl	rs193302889
geneview	rs193302889
scholar	rs193302889
google	rs193302889
pharmgkb	rs193302889
gwascentral	rs193302889
openSNP	rs193302889
23andMe	rs193302889
SNPshot	rs193302889
SNPdbe	rs193302889
MSV3d	rs193302889
GWAS Ctlg	rs193302889

Max Magnitude

0

ClinVar
Risk	rs193302889(A;A)
Alt	rs193302889(A;A)
Reference	Rs193302889(T;T)
Significance	Probable-Pathogenic
Disease	not provided Glycogen storage disease Hepatomegaly Immunodeficiency Leukopenia Neutropenia Recurrent respiratory infections Splenomegaly
Variation	info
Gene	SLC37A4
CLNDBN	not provided Glycogen storage disease, type I Hepatomegaly Immunodeficiency Leukopenia Neutropenia Recurrent respiratory infections Splenomegaly
Reversed	1
HGVS	NC_000011.9:g.118899999A>T
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059141.1, RCV000357831.1, RCV000414827.1,