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rs74315428

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315428(C;T)
Make rs74315428(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position51788890
GeneSALL4
is asnp
is mentioned by
dbSNPrs74315428
ebirs74315428
HLIrs74315428
Exacrs74315428
Varsomers74315428
Maprs74315428
PheGenIrs74315428
hapmaprs74315428
1000 genomesrs74315428
hgdprs74315428
ensemblrs74315428
gopubmedrs74315428
geneviewrs74315428
scholarrs74315428
googlers74315428
pharmgkbrs74315428
gwascentralrs74315428
openSNPrs74315428
23andMers74315428
23andMe allrs74315428
SNP Nexus

SNPshotrs74315428
SNPdbers74315428
MSV3drs74315428
GWAS Ctlgrs74315428
Max Magnitude0
OMIM607343
Desc
Variant0011
Relatedalso
ClinVar
Risk rs74315428(T;T)
Alt rs74315428(T;T)
Reference rs74315428(C;C)
Significance Pathogenic
Disease Duane-radial ray syndrome
Variation info
Gene SALL4
CLNDBN Duane-radial ray syndrome
Reversed 1
HGVS NC_000020.10:g.50405429G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003492.2,