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rs387907209

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907209(A;A)
Make rs387907209(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position21842326
GeneABCC9
is asnp
is mentioned by
dbSNPrs387907209
dbSNP (classic)rs387907209
ClinGenrs387907209
ebirs387907209
HLIrs387907209
Exacrs387907209
Gnomadrs387907209
Varsomers387907209
LitVarrs387907209
Maprs387907209
PheGenIrs387907209
Biobankrs387907209
1000 genomesrs387907209
hgdprs387907209
ensemblrs387907209
geneviewrs387907209
scholarrs387907209
googlers387907209
pharmgkbrs387907209
gwascentralrs387907209
openSNPrs387907209
23andMers387907209
SNPshotrs387907209
SNPdbers387907209
MSV3drs387907209
GWAS Ctlgrs387907209
Max Magnitude0
ClinVar
Risk rs387907209(A;A) rs387907209(C;C)
Alt rs387907209(A;A) rs387907209(C;C)
Reference Rs387907209(G;G)
Significance Pathogenic
Disease Hypertrichotic osteochondrodysplasia not provided
Variation info
Gene ABCC9
CLNDBN Hypertrichotic osteochondrodysplasia not provided
Reversed 1
HGVS NC_000012.11:g.21995260C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024625.2, RCV000256056.1,