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rs121908540

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908540(C;T)
Make rs121908540(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position169485615
GeneATP6V0CP1, SLC19A2
is asnp
is mentioned by
dbSNPrs121908540
ebirs121908540
HLIrs121908540
Exacrs121908540
Varsomers121908540
Maprs121908540
PheGenIrs121908540
hapmaprs121908540
1000 genomesrs121908540
hgdprs121908540
ensemblrs121908540
gopubmedrs121908540
geneviewrs121908540
scholarrs121908540
googlers121908540
pharmgkbrs121908540
gwascentralrs121908540
openSNPrs121908540
23andMers121908540
23andMe allrs121908540
SNP Nexus

SNPshotrs121908540
SNPdbers121908540
MSV3drs121908540
GWAS Ctlgrs121908540
Max Magnitude0
OMIM603941
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908540(T;T)
Alt rs121908540(T;T)
Reference rs121908540(C;C)
Significance Pathogenic
Disease Megaloblastic anemia
Variation info
Gene SLC19A2
CLNDBN Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Reversed 1
HGVS NC_000001.10:g.169454853G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006328.2,