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rs193302889

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193302889(A;A)
Make rs193302889(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position119029289
GeneSLC37A4
is asnp
is mentioned by
dbSNPrs193302889
dbSNP (classic)rs193302889
ClinGenrs193302889
ebirs193302889
HLIrs193302889
Exacrs193302889
Gnomadrs193302889
Varsomers193302889
LitVarrs193302889
Maprs193302889
PheGenIrs193302889
Biobankrs193302889
1000 genomesrs193302889
hgdprs193302889
ensemblrs193302889
geneviewrs193302889
scholarrs193302889
googlers193302889
pharmgkbrs193302889
gwascentralrs193302889
openSNPrs193302889
23andMers193302889
23andMe allrs193302889
SNPshotrs193302889
SNPdbers193302889
MSV3drs193302889
GWAS Ctlgrs193302889
Max Magnitude0
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,