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rs375380880

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs375380880(C;T)
Make rs375380880(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position110198158
GeneSLC6A17
is asnp
is mentioned by
dbSNPrs375380880
ebirs375380880
HLIrs375380880
Exacrs375380880
Varsomers375380880
Maprs375380880
PheGenIrs375380880
hapmaprs375380880
1000 genomesrs375380880
hgdprs375380880
ensemblrs375380880
gopubmedrs375380880
geneviewrs375380880
scholarrs375380880
googlers375380880
pharmgkbrs375380880
gwascentralrs375380880
openSNPrs375380880
23andMers375380880
23andMe allrs375380880
SNP Nexus

SNPshotrs375380880
SNPdbers375380880
MSV3drs375380880
GWAS Ctlgrs375380880
Max Magnitude0
ClinVar
Risk rs375380880(G,T;G,T)
Alt rs375380880(G,T;G,T)
Reference rs375380880(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SLC6A17 LOC101928619
CLNDBN Mental retardation, autosomal recessive 48
Reversed 0
HGVS NC_000001.10:g.110740780C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000167527.3,