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rs606231458

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs606231458(C;C)
Make rs606231458(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position150542919
GeneNDST1
is asnp
is mentioned by
dbSNPrs606231458
dbSNP (old)rs606231458
ClinGenrs606231458
ebirs606231458
HLIrs606231458
Exacrs606231458
Gnomadrs606231458
Varsomers606231458
Maprs606231458
PheGenIrs606231458
Biobankrs606231458
1000 genomesrs606231458
hgdprs606231458
ensemblrs606231458
gopubmedrs606231458
geneviewrs606231458
scholarrs606231458
googlers606231458
pharmgkbrs606231458
gwascentralrs606231458
openSNPrs606231458
23andMers606231458
23andMe allrs606231458
SNP Nexus

SNPshotrs606231458
SNPdbers606231458
MSV3drs606231458
GWAS Ctlgrs606231458
Max Magnitude0
ClinVar
Risk rs606231458(C;C)
Alt rs606231458(C;C)
Reference Rs606231458(T;T)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene NDST1
CLNDBN Mental retardation, autosomal recessive 46
Reversed 0
HGVS NC_000005.9:g.149922481T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000148927.6,