Have questions? Visit https://www.reddit.com/r/SNPedia

rs61761869

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 3.1 Possible Alpha-1 Antrypsin deficiency genotype
(A;G) 2.5 Likely carrier of SERPINA1 mutation; slight chance of Alpha-1 Antitrypsin Deficiency?
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position94378529
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs61761869
dbSNP (old)rs61761869
ClinGenrs61761869
ebirs61761869
HLIrs61761869
Exacrs61761869
Varsomers61761869
Maprs61761869
PheGenIrs61761869
Biobankrs61761869
1000 genomesrs61761869
hgdprs61761869
ensemblrs61761869
gopubmedrs61761869
geneviewrs61761869
scholarrs61761869
googlers61761869
pharmgkbrs61761869
gwascentralrs61761869
openSNPrs61761869
23andMers61761869
23andMe allrs61761869
SNP Nexus

SNPshotrs61761869
SNPdbers61761869
MSV3drs61761869
GWAS Ctlgrs61761869
Max Magnitude3.1

c.1177C>A (p.Pro393Thr)

Described as a pathogenic variant by a single lab (HerediLab) in ClinVar; not described elsewhere to our knowledge. If true, this would be considered an SERPINA1 genotype associated with alpha1-antitrypsin deficiency.


ClinVar
Risk Rs61761869(A;A) rs61761869(T;T)
Alt Rs61761869(A;A) rs61761869(T;T)
Reference Rs61761869(G;G)
Significance Pathogenic
Disease Alpha-1-antitrypsin deficiency not provided
Variation info
Gene SERPINA1
CLNDBN Alpha-1-antitrypsin deficiency not provided
Reversed 0
HGVS NC_000014.8:g.94844866G>A; NC_000014.8:g.94844866G>T
CLNSRC
CLNACC RCV000336993.1, RCV000443069.1, RCV000206411.1,