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rs387906737

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906737(A;C)
Make rs387906737(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position97022192
GeneDLX5
is asnp
is mentioned by
dbSNPrs387906737
dbSNP (classic)rs387906737
ClinGenrs387906737
ebirs387906737
HLIrs387906737
Exacrs387906737
Gnomadrs387906737
Varsomers387906737
LitVarrs387906737
Maprs387906737
PheGenIrs387906737
Biobankrs387906737
1000 genomesrs387906737
hgdprs387906737
ensemblrs387906737
geneviewrs387906737
scholarrs387906737
googlers387906737
pharmgkbrs387906737
gwascentralrs387906737
openSNPrs387906737
23andMers387906737
SNPshotrs387906737
SNPdbers387906737
MSV3drs387906737
GWAS Ctlgrs387906737
Max Magnitude0
ClinVar
Risk rs387906737(C;C)
Alt rs387906737(C;C)
Reference Rs387906737(A;A)
Significance Pathogenic
Disease Split-hand/foot malformation 1 with sensorineural hearing loss
Variation info
Gene DLX5
CLNDBN Split-hand/foot malformation 1 with sensorineural hearing loss
Reversed 1
HGVS NC_000007.13:g.96651504T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022921.8,