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

rs606231302

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231302(A;A)
Make rs606231302(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position112917468
GeneSLC16A1
is asnp
is mentioned by
dbSNPrs606231302
ebirs606231302
HLIrs606231302
Exacrs606231302
Varsomers606231302
Maprs606231302
PheGenIrs606231302
hapmaprs606231302
1000 genomesrs606231302
hgdprs606231302
ensemblrs606231302
gopubmedrs606231302
geneviewrs606231302
scholarrs606231302
googlers606231302
pharmgkbrs606231302
gwascentralrs606231302
openSNPrs606231302
23andMers606231302
23andMe allrs606231302
SNP Nexus

SNPshotrs606231302
SNPdbers606231302
MSV3drs606231302
GWAS Ctlgrs606231302
Max Magnitude0
ClinVar
Risk rs606231302(A;A)
Alt rs606231302(A;A)
Reference rs606231302(G;G)
Significance Pathogenic
Disease Monocarboxylate transporter 1 deficiency
Variation info
Gene SLC16A1
CLNDBN Monocarboxylate transporter 1 deficiency, autosomal dominant
Reversed 1
HGVS NC_000001.10:g.113460090C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000145414.3,