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rs398122524

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122524(C;T)
Make rs398122524(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position100011413
GeneSLC35A3
is asnp
is mentioned by
dbSNPrs398122524
dbSNP (classic)rs398122524
ClinGenrs398122524
ebirs398122524
HLIrs398122524
Exacrs398122524
Gnomadrs398122524
Varsomers398122524
LitVarrs398122524
Maprs398122524
PheGenIrs398122524
Biobankrs398122524
1000 genomesrs398122524
hgdprs398122524
ensemblrs398122524
geneviewrs398122524
scholarrs398122524
googlers398122524
pharmgkbrs398122524
gwascentralrs398122524
openSNPrs398122524
23andMers398122524
SNPshotrs398122524
SNPdbers398122524
MSV3drs398122524
GWAS Ctlgrs398122524
Max Magnitude0
ClinVar
Risk rs398122524(T;T)
Alt rs398122524(T;T)
Reference Rs398122524(C;C)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene SLC35A3
CLNDBN Arthrogryposis, mental retardation, and seizures
Reversed 0
HGVS NC_000001.10:g.100476969C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074503.4,