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rs387907229

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907229(C;C)
Make rs387907229(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position21845641
GeneABCC9
is asnp
is mentioned by
dbSNPrs387907229
ebirs387907229
HLIrs387907229
Exacrs387907229
Varsomers387907229
Maprs387907229
PheGenIrs387907229
hapmaprs387907229
1000 genomesrs387907229
hgdprs387907229
ensemblrs387907229
gopubmedrs387907229
geneviewrs387907229
scholarrs387907229
googlers387907229
pharmgkbrs387907229
gwascentralrs387907229
openSNPrs387907229
23andMers387907229
23andMe allrs387907229
SNP Nexus

SNPshotrs387907229
SNPdbers387907229
MSV3drs387907229
GWAS Ctlgrs387907229
Max Magnitude0
ClinVar
Risk rs387907229(C;C)
Alt rs387907229(C;C)
Reference rs387907229(T;T)
Significance Pathogenic
Disease Hypertrichotic osteochondrodysplasia
Variation info
Gene ABCC9
CLNDBN Hypertrichotic osteochondrodysplasia
Reversed 1
HGVS NC_000012.11:g.21998575A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000029190.2,