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rs74315425

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315425(C;T)
Make rs74315425(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position51789010
GeneSALL4
is asnp
is mentioned by
dbSNPrs74315425
ebirs74315425
HLIrs74315425
Exacrs74315425
Varsomers74315425
Maprs74315425
PheGenIrs74315425
hapmaprs74315425
1000 genomesrs74315425
hgdprs74315425
ensemblrs74315425
gopubmedrs74315425
geneviewrs74315425
scholarrs74315425
googlers74315425
pharmgkbrs74315425
gwascentralrs74315425
openSNPrs74315425
23andMers74315425
23andMe allrs74315425
SNP Nexus

SNPshotrs74315425
SNPdbers74315425
MSV3drs74315425
GWAS Ctlgrs74315425
Max Magnitude0
OMIM607343
Desc
Variant0005
Relatedalso
ClinVar
Risk rs74315425(T;T)
Alt rs74315425(T;T)
Reference rs74315425(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.50405549G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003486.2,