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rs606231456

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231456(A;A)
Make rs606231456(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position150545467
GeneNDST1
is asnp
is mentioned by
dbSNPrs606231456
dbSNP (classic)rs606231456
ClinGenrs606231456
ebirs606231456
HLIrs606231456
Exacrs606231456
Gnomadrs606231456
Varsomers606231456
LitVarrs606231456
Maprs606231456
PheGenIrs606231456
Biobankrs606231456
1000 genomesrs606231456
hgdprs606231456
ensemblrs606231456
geneviewrs606231456
scholarrs606231456
googlers606231456
pharmgkbrs606231456
gwascentralrs606231456
openSNPrs606231456
23andMers606231456
SNPshotrs606231456
SNPdbers606231456
MSV3drs606231456
GWAS Ctlgrs606231456
Max Magnitude0
ClinVar
Risk rs606231456(A;A)
Alt rs606231456(A;A)
Reference Rs606231456(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene NDST1
CLNDBN Mental retardation, autosomal recessive 46
Reversed 0
HGVS NC_000005.9:g.149925029G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000148925.5,