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rs74315424

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315424(C;T)
Make rs74315424(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position51790529
GeneSALL4
is asnp
is mentioned by
dbSNPrs74315424
ebirs74315424
HLIrs74315424
Exacrs74315424
Varsomers74315424
Maprs74315424
PheGenIrs74315424
hapmaprs74315424
1000 genomesrs74315424
hgdprs74315424
ensemblrs74315424
gopubmedrs74315424
geneviewrs74315424
scholarrs74315424
googlers74315424
pharmgkbrs74315424
gwascentralrs74315424
openSNPrs74315424
23andMers74315424
23andMe allrs74315424
SNP Nexus

SNPshotrs74315424
SNPdbers74315424
MSV3drs74315424
GWAS Ctlgrs74315424
Max Magnitude0
OMIM607343
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315424(T;T)
Alt rs74315424(T;T)
Reference rs74315424(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.50407068G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003482.3,