Have questions? Visit https://www.reddit.com/r/SNPedia

rs74315375

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315375(A;A)
Make rs74315375(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position169468793
GeneSLC19A2
is asnp
is mentioned by
dbSNPrs74315375
ebirs74315375
HLIrs74315375
Exacrs74315375
Varsomers74315375
Maprs74315375
PheGenIrs74315375
hapmaprs74315375
1000 genomesrs74315375
hgdprs74315375
ensemblrs74315375
gopubmedrs74315375
geneviewrs74315375
scholarrs74315375
googlers74315375
pharmgkbrs74315375
gwascentralrs74315375
openSNPrs74315375
23andMers74315375
23andMe allrs74315375
SNP Nexus

SNPshotrs74315375
SNPdbers74315375
MSV3drs74315375
GWAS Ctlgrs74315375
Max Magnitude0
OMIM603941
Desc
Variant0009
Relatedalso
ClinVar
Risk rs74315375(A;A)
Alt rs74315375(A;A)
Reference rs74315375(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.169438031C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006327.2,