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rs606231299

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231299(C;T)
Make rs606231299(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position112917469
GeneSLC16A1
is asnp
is mentioned by
dbSNPrs606231299
ebirs606231299
HLIrs606231299
Exacrs606231299
Varsomers606231299
Maprs606231299
PheGenIrs606231299
hapmaprs606231299
1000 genomesrs606231299
hgdprs606231299
ensemblrs606231299
gopubmedrs606231299
geneviewrs606231299
scholarrs606231299
googlers606231299
pharmgkbrs606231299
gwascentralrs606231299
openSNPrs606231299
23andMers606231299
23andMe allrs606231299
SNP Nexus

SNPshotrs606231299
SNPdbers606231299
MSV3drs606231299
GWAS Ctlgrs606231299
Max Magnitude0
ClinVar
Risk rs606231299(T;T)
Alt rs606231299(T;T)
Reference rs606231299(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.113460091G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000145408.4,