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rs1057518845

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518845(A;C)
Make rs1057518845(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position23755726
GeneLOC105369696, SOX5
is asnp
is mentioned by
dbSNPrs1057518845
dbSNP (old)rs1057518845
ClinGenrs1057518845
ebirs1057518845
HLIrs1057518845
Exacrs1057518845
Gnomadrs1057518845
Varsomers1057518845
Maprs1057518845
PheGenIrs1057518845
Biobankrs1057518845
1000 genomesrs1057518845
hgdprs1057518845
ensemblrs1057518845
gopubmedrs1057518845
geneviewrs1057518845
scholarrs1057518845
googlers1057518845
pharmgkbrs1057518845
gwascentralrs1057518845
openSNPrs1057518845
23andMers1057518845
23andMe allrs1057518845
SNPshotrs1057518845
SNPdbers1057518845
MSV3drs1057518845
GWAS Ctlgrs1057518845
Max Magnitude0
ClinVar
Risk rs1057518845(C;C)
Alt rs1057518845(C;C)
Reference Rs1057518845(A;A)
Significance Probable-Pathogenic
Disease Aplasia/Hypoplasia of the nails Central hypotonia Generalized hypotonia Strabismus Thoracolumbar scoliosis
Variation info
Gene SOX5
CLNDBN Aplasia/Hypoplasia of the nails Central hypotonia Generalized hypotonia Strabismus Thoracolumbar scoliosis
Reversed 1
HGVS NC_000012.11:g.23908660T>G
CLNSRC
CLNACC RCV000414904.1,