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rs80358222

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80358222(A;G)
Make rs80358222(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position112917796
GeneSLC16A1
is asnp
is mentioned by
dbSNPrs80358222
ebirs80358222
HLIrs80358222
Exacrs80358222
Varsomers80358222
Maprs80358222
PheGenIrs80358222
hapmaprs80358222
1000 genomesrs80358222
hgdprs80358222
ensemblrs80358222
gopubmedrs80358222
geneviewrs80358222
scholarrs80358222
googlers80358222
pharmgkbrs80358222
gwascentralrs80358222
openSNPrs80358222
23andMers80358222
23andMe allrs80358222
SNP Nexus

SNPshotrs80358222
SNPdbers80358222
MSV3drs80358222
GWAS Ctlgrs80358222
Max Magnitude0
OMIM600682
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80358222(G;G)
Alt rs80358222(G;G)
Reference rs80358222(A;A)
Significance Pathogenic
Disease Erythrocyte lactate transporter defect
Variation info
Gene SLC16A1
CLNDBN Erythrocyte lactate transporter defect
Reversed 1
HGVS NC_000001.10:g.113460418T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009469.3,