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rs606231311

From SNPedia

Orientationminus
Geno Mag Summary
(TAAT;TAAT) 0 common in clinvar
Make rs606231311(-;-)
Make rs606231311(-;TAAT)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position112917656
GeneSLC16A1
is asnp
is mentioned by
dbSNPrs606231311
ebirs606231311
HLIrs606231311
Exacrs606231311
Varsomers606231311
Maprs606231311
PheGenIrs606231311
hapmaprs606231311
1000 genomesrs606231311
hgdprs606231311
ensemblrs606231311
gopubmedrs606231311
geneviewrs606231311
scholarrs606231311
googlers606231311
pharmgkbrs606231311
gwascentralrs606231311
openSNPrs606231311
23andMers606231311
23andMe allrs606231311
SNP Nexus

SNPshotrs606231311
SNPdbers606231311
MSV3drs606231311
GWAS Ctlgrs606231311
Max Magnitude0
ClinVar
Risk rs606231311(;)
Alt rs606231311(;)
Reference rs606231311(TAAT;TAAT)
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.113460278_113460281delATTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000148038.3,