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rs606231309

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231309(-;-)
Make rs606231309(-;C)
Make rs606231309(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position112929267
GeneSLC16A1
is asnp
is mentioned by
dbSNPrs606231309
ebirs606231309
HLIrs606231309
Exacrs606231309
Varsomers606231309
Maprs606231309
PheGenIrs606231309
hapmaprs606231309
1000 genomesrs606231309
hgdprs606231309
ensemblrs606231309
gopubmedrs606231309
geneviewrs606231309
scholarrs606231309
googlers606231309
pharmgkbrs606231309
gwascentralrs606231309
openSNPrs606231309
23andMers606231309
23andMe allrs606231309
SNP Nexus

SNPshotrs606231309
SNPdbers606231309
MSV3drs606231309
GWAS Ctlgrs606231309
Max Magnitude0
ClinVar
Risk rs606231309(C;C)
Alt rs606231309(C;C)
Reference rs606231309(;)
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.113471890dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000148036.3,