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rs28937595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28937595(A;A)
Make rs28937595(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position169477447
GeneSLC19A2
is asnp
is mentioned by
dbSNPrs28937595
ebirs28937595
HLIrs28937595
Exacrs28937595
Varsomers28937595
Maprs28937595
PheGenIrs28937595
hapmaprs28937595
1000 genomesrs28937595
hgdprs28937595
ensemblrs28937595
gopubmedrs28937595
geneviewrs28937595
scholarrs28937595
googlers28937595
pharmgkbrs28937595
gwascentralrs28937595
openSNPrs28937595
23andMers28937595
23andMe allrs28937595
SNP Nexus

SNPshotrs28937595
SNPdbers28937595
MSV3drs28937595
GWAS Ctlgrs28937595
Max Magnitude0
OMIM603941
DescTHIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
Variant0003
Relatedalso


ClinVar
Risk rs28937595(A;A)
Alt rs28937595(A;A)
Reference rs28937595(G;G)
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.169446685C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006321.2,