rs61761869

plus

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

Reference

GRCh38.p2 38.2/146

Chromosome

14

Position

94378529

Gene

SERPINA1

is a	snp
is	mentioned by
dbSNP	rs61761869
dbSNP (classic)	rs61761869
ClinGen	rs61761869
ebi	rs61761869
HLI	rs61761869
Exac	rs61761869
Gnomad	rs61761869
Varsome	rs61761869
LitVar	rs61761869
Map	rs61761869
PheGenI	rs61761869
Biobank	rs61761869
1000 genomes	rs61761869
hgdp	rs61761869
ensembl	rs61761869
geneview	rs61761869
scholar	rs61761869
google	rs61761869
pharmgkb	rs61761869
gwascentral	rs61761869
openSNP	rs61761869
23andMe	rs61761869
SNPshot	rs61761869
SNPdbe	rs61761869
MSV3d	rs61761869
GWAS Ctlg	rs61761869

Max Magnitude

3.1

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,