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rs764325655

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 3 Carrier for an Alpha-1 Antitrypsin Deficiency variant
(D;D) 0 common genotype
Make rs764325655(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position94378547
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs764325655
dbSNP (classic)rs764325655
ClinGenrs764325655
ebirs764325655
HLIrs764325655
Exacrs764325655
Gnomadrs764325655
Varsomers764325655
LitVarrs764325655
Maprs764325655
PheGenIrs764325655
Biobankrs764325655
1000 genomesrs764325655
hgdprs764325655
ensemblrs764325655
geneviewrs764325655
scholarrs764325655
googlers764325655
pharmgkbrs764325655
gwascentralrs764325655
openSNPrs764325655
23andMers764325655
SNPshotrs764325655
SNPdbers764325655
MSV3drs764325655
GWAS Ctlgrs764325655
Max Magnitude3
ClinVar
Risk rs764325655(G;G)
Alt rs764325655(G;G)
Reference Rs764325655(-;-)
Significance Probable-Pathogenic
Disease Alpha-1-antitrypsin deficiency
Variation info
Gene SERPINA1
CLNDBN Alpha-1-antitrypsin deficiency
Reversed 0
HGVS NC_000014.8:g.94844885dupG
CLNSRC
CLNACC RCV000169195.1,