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rs199476089

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476089(C;C)
Make rs199476089(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position86923442
GeneBMPR1A
is asnp
is mentioned by
dbSNPrs199476089
dbSNP (classic)rs199476089
ClinGenrs199476089
ebirs199476089
HLIrs199476089
Exacrs199476089
Gnomadrs199476089
Varsomers199476089
LitVarrs199476089
Maprs199476089
PheGenIrs199476089
Biobankrs199476089
1000 genomesrs199476089
hgdprs199476089
ensemblrs199476089
geneviewrs199476089
scholarrs199476089
googlers199476089
pharmgkbrs199476089
gwascentralrs199476089
openSNPrs199476089
23andMers199476089
SNPshotrs199476089
SNPdbers199476089
MSV3drs199476089
GWAS Ctlgrs199476089
Max Magnitude0
ClinVar
Risk rs199476089(C;C)
Alt rs199476089(C;C)
Reference Rs199476089(T;T)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene BMPR1A
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000010.10:g.88683199T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008719.3,