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rs563607795

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs563607795(A;C)
Make rs563607795(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position227695907
GeneSLC19A3
is asnp
is mentioned by
dbSNPrs563607795
dbSNP (classic)rs563607795
ClinGenrs563607795
ebirs563607795
HLIrs563607795
Exacrs563607795
Gnomadrs563607795
Varsomers563607795
LitVarrs563607795
Maprs563607795
PheGenIrs563607795
Biobankrs563607795
1000 genomesrs563607795
hgdprs563607795
ensemblrs563607795
geneviewrs563607795
scholarrs563607795
googlers563607795
pharmgkbrs563607795
gwascentralrs563607795
openSNPrs563607795
23andMers563607795
SNPshotrs563607795
SNPdbers563607795
MSV3drs563607795
GWAS Ctlgrs563607795
Max Magnitude0
ClinVar
Risk rs563607795(C;C) rs563607795(G;G)
Alt rs563607795(C;C) rs563607795(G;G)
Reference Rs563607795(A;A)
Significance Probable-Pathogenic
Disease Thiamine Metabolism Dysfunction Syndrome
Variation info
Gene SLC19A3
CLNDBN Thiamine Metabolism Dysfunction Syndrome
Reversed 0
HGVS NC_000002.11:g.228560623A>C
CLNSRC
CLNACC RCV000294366.1,