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rs74315426

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74315426(A;T)
Make rs74315426(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position51791960
GeneSALL4
is asnp
is mentioned by
dbSNPrs74315426
dbSNP (classic)rs74315426
ClinGenrs74315426
ebirs74315426
HLIrs74315426
Exacrs74315426
Gnomadrs74315426
Varsomers74315426
LitVarrs74315426
Maprs74315426
PheGenIrs74315426
Biobankrs74315426
1000 genomesrs74315426
hgdprs74315426
ensemblrs74315426
geneviewrs74315426
scholarrs74315426
googlers74315426
pharmgkbrs74315426
gwascentralrs74315426
openSNPrs74315426
23andMers74315426
SNPshotrs74315426
SNPdbers74315426
MSV3drs74315426
GWAS Ctlgrs74315426
Max Magnitude0
OMIM607343
Desc
Variant0008
Relatedalso
ClinVar
Risk rs74315426(T;T)
Alt rs74315426(T;T)
Reference Rs74315426(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.50408499T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003489.3,