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rs113994164

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTT;CTT) 0 common in clinvar
Make rs113994164(-;-)
Make rs113994164(-;CTT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position74529320
GeneSLC16A2
is asnp
is mentioned by
dbSNPrs113994164
ebirs113994164
HLIrs113994164
Exacrs113994164
Varsomers113994164
Maprs113994164
PheGenIrs113994164
hapmaprs113994164
1000 genomesrs113994164
hgdprs113994164
ensemblrs113994164
gopubmedrs113994164
geneviewrs113994164
scholarrs113994164
googlers113994164
pharmgkbrs113994164
gwascentralrs113994164
openSNPrs113994164
23andMers113994164
23andMe allrs113994164
SNP Nexus

SNPshotrs113994164
SNPdbers113994164
MSV3drs113994164
GWAS Ctlgrs113994164
Max Magnitude0
OMIM300095
Desc
Variant0010
Relatedalso
ClinVar
Risk rs113994164(;)
Alt rs113994164(;)
Reference rs113994164(CTT;CTT)
Significance Pathogenic
Disease Allan-Herndon-Dudley syndrome
Variation info
Gene SLC16A2
CLNDBN Allan-Herndon-Dudley syndrome
Reversed 0
HGVS NC_000023.10:g.73749155_73749157delCTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020649.1,