rs775982338

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;AGA)	3	carrier for Alpha-1 Antitrypsin Deficiency
(AGA;AGA)	0	common in clinvar

Make rs775982338(-;-)

Reference

GRCh38.p7 38.3/149

Chromosome

14

Position

94383009

Gene

SERPINA1

is a	snp
is	mentioned by
dbSNP	rs775982338
dbSNP (classic)	rs775982338
ClinGen	rs775982338
ebi	rs775982338
HLI	rs775982338
Exac	rs775982338
Gnomad	rs775982338
Varsome	rs775982338
LitVar	rs775982338
Map	rs775982338
PheGenI	rs775982338
Biobank	rs775982338
1000 genomes	rs775982338
hgdp	rs775982338
ensembl	rs775982338
geneview	rs775982338
scholar	rs775982338
google	rs775982338
pharmgkb	rs775982338
gwascentral	rs775982338
openSNP	rs775982338
23andMe	rs775982338
SNPshot	rs775982338
SNPdbe	rs775982338
MSV3d	rs775982338
GWAS Ctlg	rs775982338

Merged from

Rs863225263

Max Magnitude

3

ClinVar
Risk	rs775982338(-;-) Rs775982338(AGA;AGA)
Alt	rs775982338(-;-) Rs775982338(AGA;AGA)
Reference	rs775982338(GAA;GAA)
Significance	Other
Disease	PI M(MALTON) PI M(NICHINAN) Alpha-1-antitrypsin deficiency
Variation	info
Gene	SERPINA1
CLNDBN	PI M(MALTON) PI M(NICHINAN) Alpha-1-antitrypsin deficiency
Reversed	0
HGVS	NC_000014.8:g.94849346_94849348delAGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019568.2, RCV000019572.2, RCV000262058.3,