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rs74315429

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74315429(A;G)
Make rs74315429(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position51788940
GeneSALL4
is asnp
is mentioned by
dbSNPrs74315429
ebirs74315429
HLIrs74315429
Exacrs74315429
Varsomers74315429
Maprs74315429
PheGenIrs74315429
hapmaprs74315429
1000 genomesrs74315429
hgdprs74315429
ensemblrs74315429
gopubmedrs74315429
geneviewrs74315429
scholarrs74315429
googlers74315429
pharmgkbrs74315429
gwascentralrs74315429
openSNPrs74315429
23andMers74315429
23andMe allrs74315429
SNP Nexus

SNPshotrs74315429
SNPdbers74315429
MSV3drs74315429
GWAS Ctlgrs74315429
Max Magnitude0
OMIM607343
Desc
Variant0012
Relatedalso
ClinVar
Risk rs74315429(G;G)
Alt rs74315429(G;G)
Reference rs74315429(A;A)
Significance Pathogenic
Disease Duane-radial ray syndrome
Variation info
Gene SALL4
CLNDBN Duane-radial ray syndrome
Reversed 1
HGVS NC_000020.10:g.50405479T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003493.2,