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rs116929575

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs116929575(A;G)
Make rs116929575(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position94623782
GeneSERPINA3
is asnp
is mentioned by
dbSNPrs116929575
dbSNP (classic)rs116929575
ClinGenrs116929575
ebirs116929575
HLIrs116929575
Exacrs116929575
Gnomadrs116929575
Varsomers116929575
LitVarrs116929575
Maprs116929575
PheGenIrs116929575
Biobankrs116929575
1000 genomesrs116929575
hgdprs116929575
ensemblrs116929575
geneviewrs116929575
scholarrs116929575
googlers116929575
pharmgkbrs116929575
gwascentralrs116929575
openSNPrs116929575
23andMers116929575
SNPshotrs116929575
SNPdbers116929575
MSV3drs116929575
GWAS Ctlgrs116929575
GMAF0.003673
Max Magnitude0
OMIM107280
Desc
Variant0001
Relatedalso
ClinVar
Risk rs116929575(G;G)
Alt rs116929575(G;G)
Reference Rs116929575(A;A)
Significance Pathogenic
Disease ANTICHYMOTRYPSIN ISEHARA 1 Peripheral arterial occlusive disease 1
Variation info
Gene SERPINA3
CLNDBN ANTICHYMOTRYPSIN ISEHARA 1 Peripheral arterial occlusive disease 1
Reversed 0
HGVS NC_000014.8:g.95090119A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019663.27, RCV000490276.1,