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

rs606231301

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231301(-;-)
Make rs606231301(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position112917907
GeneSLC16A1
is asnp
is mentioned by
dbSNPrs606231301
ebirs606231301
HLIrs606231301
Exacrs606231301
Varsomers606231301
Maprs606231301
PheGenIrs606231301
hapmaprs606231301
1000 genomesrs606231301
hgdprs606231301
ensemblrs606231301
gopubmedrs606231301
geneviewrs606231301
scholarrs606231301
googlers606231301
pharmgkbrs606231301
gwascentralrs606231301
openSNPrs606231301
23andMers606231301
23andMe allrs606231301
SNP Nexus

SNPshotrs606231301
SNPdbers606231301
MSV3drs606231301
GWAS Ctlgrs606231301
Max Magnitude0
ClinVar
Risk rs606231301(;)
Alt rs606231301(;)
Reference rs606231301(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.113460529delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000145412.3,