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rs387907211

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907211(C;T)
Make rs387907211(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position21908099
GeneABCC9
is asnp
is mentioned by
dbSNPrs387907211
ebirs387907211
HLIrs387907211
Exacrs387907211
Varsomers387907211
Maprs387907211
PheGenIrs387907211
hapmaprs387907211
1000 genomesrs387907211
hgdprs387907211
ensemblrs387907211
gopubmedrs387907211
geneviewrs387907211
scholarrs387907211
googlers387907211
pharmgkbrs387907211
gwascentralrs387907211
openSNPrs387907211
23andMers387907211
23andMe allrs387907211
SNP Nexus

SNPshotrs387907211
SNPdbers387907211
MSV3drs387907211
GWAS Ctlgrs387907211
Max Magnitude0
ClinVar
Risk rs387907211(T;T)
Alt rs387907211(T;T)
Reference rs387907211(C;C)
Significance Pathogenic
Disease Hypertrichotic osteochondrodysplasia
Variation info
Gene ABCC9
CLNDBN Hypertrichotic osteochondrodysplasia
Reversed 1
HGVS NC_000012.11:g.22061033G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024627.2,