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rs606231310

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231310(C;T)
Make rs606231310(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position112917424
GeneSLC16A1
is asnp
is mentioned by
dbSNPrs606231310
ebirs606231310
HLIrs606231310
Exacrs606231310
Varsomers606231310
Maprs606231310
PheGenIrs606231310
hapmaprs606231310
1000 genomesrs606231310
hgdprs606231310
ensemblrs606231310
gopubmedrs606231310
geneviewrs606231310
scholarrs606231310
googlers606231310
pharmgkbrs606231310
gwascentralrs606231310
openSNPrs606231310
23andMers606231310
23andMe allrs606231310
SNP Nexus

SNPshotrs606231310
SNPdbers606231310
MSV3drs606231310
GWAS Ctlgrs606231310
Max Magnitude0
ClinVar
Risk rs606231310(T;T)
Alt rs606231310(T;T)
Reference rs606231310(C;C)
Significance Pathogenic
Disease Monocarboxylate transporter 1 deficiency
Variation info
Gene SLC16A1
CLNDBN Monocarboxylate transporter 1 deficiency, autosomal recessive
Reversed 1
HGVS NC_000001.10:g.113460046G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000148037.3,