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rs387907208

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907208(C;T)
Make rs387907208(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position21842327
GeneABCC9
is asnp
is mentioned by
dbSNPrs387907208
ebirs387907208
HLIrs387907208
Exacrs387907208
Varsomers387907208
Maprs387907208
PheGenIrs387907208
hapmaprs387907208
1000 genomesrs387907208
hgdprs387907208
ensemblrs387907208
gopubmedrs387907208
geneviewrs387907208
scholarrs387907208
googlers387907208
pharmgkbrs387907208
gwascentralrs387907208
openSNPrs387907208
23andMers387907208
23andMe allrs387907208
SNP Nexus

SNPshotrs387907208
SNPdbers387907208
MSV3drs387907208
GWAS Ctlgrs387907208
Max Magnitude0
ClinVar
Risk rs387907208(T;T)
Alt rs387907208(T;T)
Reference rs387907208(C;C)
Significance Pathogenic
Disease Hypertrichotic osteochondrodysplasia
Variation info
Gene ABCC9
CLNDBN Hypertrichotic osteochondrodysplasia
Reversed 1
HGVS NC_000012.11:g.21995261G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024624.3,