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rs387907228

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907228(C;T)
Make rs387907228(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position21842441
GeneABCC9
is asnp
is mentioned by
dbSNPrs387907228
ebirs387907228
HLIrs387907228
Exacrs387907228
Varsomers387907228
Maprs387907228
PheGenIrs387907228
hapmaprs387907228
1000 genomesrs387907228
hgdprs387907228
ensemblrs387907228
gopubmedrs387907228
geneviewrs387907228
scholarrs387907228
googlers387907228
pharmgkbrs387907228
gwascentralrs387907228
openSNPrs387907228
23andMers387907228
23andMe allrs387907228
SNP Nexus

SNPshotrs387907228
SNPdbers387907228
MSV3drs387907228
GWAS Ctlgrs387907228
Max Magnitude0
ClinVar
Risk rs387907228(T;T)
Alt rs387907228(T;T)
Reference rs387907228(C;C)
Significance Pathogenic
Disease Hypertrichotic osteochondrodysplasia
Variation info
Gene ABCC9
CLNDBN Hypertrichotic osteochondrodysplasia
Reversed 1
HGVS NC_000012.11:g.21995375G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029189.2,