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rs74315427

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315427(C;T)
Make rs74315427(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position51790634
GeneSALL4
is asnp
is mentioned by
dbSNPrs74315427
ebirs74315427
HLIrs74315427
Exacrs74315427
Varsomers74315427
Maprs74315427
PheGenIrs74315427
hapmaprs74315427
1000 genomesrs74315427
hgdprs74315427
ensemblrs74315427
gopubmedrs74315427
geneviewrs74315427
scholarrs74315427
googlers74315427
pharmgkbrs74315427
gwascentralrs74315427
openSNPrs74315427
23andMers74315427
23andMe allrs74315427
SNP Nexus

SNPshotrs74315427
SNPdbers74315427
MSV3drs74315427
GWAS Ctlgrs74315427
Max Magnitude0
OMIM607343
Desc
Variant0009
Relatedalso
ClinVar
Risk rs74315427(T;T)
Alt rs74315427(T;T)
Reference rs74315427(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.50407173G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003490.2,