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rs606231457

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231457(G;T)
Make rs606231457(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position150542927
GeneNDST1
is asnp
is mentioned by
dbSNPrs606231457
dbSNP (classic)rs606231457
ClinGenrs606231457
ebirs606231457
HLIrs606231457
Exacrs606231457
Gnomadrs606231457
Varsomers606231457
LitVarrs606231457
Maprs606231457
PheGenIrs606231457
Biobankrs606231457
1000 genomesrs606231457
hgdprs606231457
ensemblrs606231457
geneviewrs606231457
scholarrs606231457
googlers606231457
pharmgkbrs606231457
gwascentralrs606231457
openSNPrs606231457
23andMers606231457
SNPshotrs606231457
SNPdbers606231457
MSV3drs606231457
GWAS Ctlgrs606231457
Max Magnitude0
ClinVar
Risk rs606231457(T;T)
Alt rs606231457(T;T)
Reference Rs606231457(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene NDST1
CLNDBN Mental retardation, autosomal recessive 46
Reversed 0
HGVS NC_000005.9:g.149922489G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000148926.6,