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rs72552271

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72552271(A;A)
Make rs72552271(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position112913980
GeneSLC16A1
is asnp
is mentioned by
dbSNPrs72552271
ebirs72552271
HLIrs72552271
Exacrs72552271
Varsomers72552271
Maprs72552271
PheGenIrs72552271
hapmaprs72552271
1000 genomesrs72552271
hgdprs72552271
ensemblrs72552271
gopubmedrs72552271
geneviewrs72552271
scholarrs72552271
googlers72552271
pharmgkbrs72552271
gwascentralrs72552271
openSNPrs72552271
23andMers72552271
23andMe allrs72552271
SNP Nexus

SNPshotrs72552271
SNPdbers72552271
MSV3drs72552271
GWAS Ctlgrs72552271
GMAF0.002296
Max Magnitude0
OMIM600682
Desc
Variant0002
Relatedalso
ClinVar
Risk rs72552271(A;A)
Alt rs72552271(A;A)
Reference rs72552271(G;G)
Significance Pathogenic
Disease Erythrocyte lactate transporter defect not specified
Variation info
Gene SLC16A1
CLNDBN Erythrocyte lactate transporter defect not specified
Reversed 1
HGVS NC_000001.10:g.113456602C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009470.2, RCV000193787.1,