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rs1057516044

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516044(C;C)
Make rs1057516044(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position21913005
GeneABCC9
is asnp
is mentioned by
dbSNPrs1057516044
dbSNP (old)rs1057516044
ClinGenrs1057516044
ebirs1057516044
HLIrs1057516044
Exacrs1057516044
Gnomadrs1057516044
Varsomers1057516044
Maprs1057516044
PheGenIrs1057516044
Biobankrs1057516044
1000 genomesrs1057516044
hgdprs1057516044
ensemblrs1057516044
gopubmedrs1057516044
geneviewrs1057516044
scholarrs1057516044
googlers1057516044
pharmgkbrs1057516044
gwascentralrs1057516044
openSNPrs1057516044
23andMers1057516044
23andMe allrs1057516044
SNPshotrs1057516044
SNPdbers1057516044
MSV3drs1057516044
GWAS Ctlgrs1057516044
Max Magnitude0
ClinVar
Risk rs1057516044(C;C)
Alt rs1057516044(C;C)
Reference Rs1057516044(T;T)
Significance Probable-Pathogenic
Disease Hypertrichotic osteochondrodysplasia
Variation info
Gene ABCC9
CLNDBN Hypertrichotic osteochondrodysplasia
Reversed 1
HGVS NC_000012.11:g.22065939A>G
CLNSRC
CLNACC RCV000408624.1,