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rs606231300

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231300(C;T)
Make rs606231300(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position112917820
GeneSLC16A1
is asnp
is mentioned by
dbSNPrs606231300
ebirs606231300
HLIrs606231300
Exacrs606231300
Varsomers606231300
Maprs606231300
PheGenIrs606231300
hapmaprs606231300
1000 genomesrs606231300
hgdprs606231300
ensemblrs606231300
gopubmedrs606231300
geneviewrs606231300
scholarrs606231300
googlers606231300
pharmgkbrs606231300
gwascentralrs606231300
openSNPrs606231300
23andMers606231300
23andMe allrs606231300
SNP Nexus

SNPshotrs606231300
SNPdbers606231300
MSV3drs606231300
GWAS Ctlgrs606231300
Max Magnitude0
ClinVar
Risk rs606231300(T;T)
Alt rs606231300(T;T)
Reference rs606231300(C;C)
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.113460442G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000145410.3,