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rs387907230

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907230(C;T)
Make rs387907230(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position21933888
GeneABCC9
is asnp
is mentioned by
dbSNPrs387907230
ebirs387907230
HLIrs387907230
Exacrs387907230
Varsomers387907230
Maprs387907230
PheGenIrs387907230
hapmaprs387907230
1000 genomesrs387907230
hgdprs387907230
ensemblrs387907230
gopubmedrs387907230
geneviewrs387907230
scholarrs387907230
googlers387907230
pharmgkbrs387907230
gwascentralrs387907230
openSNPrs387907230
23andMers387907230
23andMe allrs387907230
SNP Nexus

SNPshotrs387907230
SNPdbers387907230
MSV3drs387907230
GWAS Ctlgrs387907230
Max Magnitude0
ClinVar
Risk rs387907230(T;T)
Alt rs387907230(T;T)
Reference rs387907230(C;C)
Significance Pathogenic
Disease Hypertrichotic osteochondrodysplasia
Variation info
Gene ABCC9
CLNDBN Hypertrichotic osteochondrodysplasia
Reversed 1
HGVS NC_000012.11:g.22086822G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029191.2,