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rs724159961

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs724159961(G;T)
Make rs724159961(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position8660895
GeneMFAP5
is asnp
is mentioned by
dbSNPrs724159961
dbSNP (classic)rs724159961
ClinGenrs724159961
ebirs724159961
HLIrs724159961
Exacrs724159961
Gnomadrs724159961
Varsomers724159961
LitVarrs724159961
Maprs724159961
PheGenIrs724159961
Biobankrs724159961
1000 genomesrs724159961
hgdprs724159961
ensemblrs724159961
geneviewrs724159961
scholarrs724159961
googlers724159961
pharmgkbrs724159961
gwascentralrs724159961
openSNPrs724159961
23andMers724159961
SNPshotrs724159961
SNPdbers724159961
MSV3drs724159961
GWAS Ctlgrs724159961
Max Magnitude0
ClinVar
Risk rs724159961(T;T)
Alt rs724159961(T;T)
Reference Rs724159961(G;G)
Significance Pathogenic
Disease Aortic aneurysm
Variation info
Gene MFAP5
CLNDBN Aortic aneurysm, familial thoracic 9
Reversed 1
HGVS NC_000012.11:g.8813491C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000149580.4,