rs6647

Pi-M allele

minus

Geno	Mag	Summary
(C;C)	0	Normal; two copies of Pi-M1A allele
(C;T)	0	Normal; one Pi-M1V allele and one Pi-M1A allele
(T;T)	0	Normal; two copies of Pi-M1V allele

Reference

GRCh38 38.1/142

Chromosome

14

Position

94381078

Gene

SERPINA1

is a	snp
is	mentioned by
dbSNP	rs6647
dbSNP (classic)	rs6647
ClinGen	rs6647
ebi	rs6647
HLI	rs6647
Exac	rs6647
Gnomad	rs6647
Varsome	rs6647
LitVar	rs6647
Map	rs6647
PheGenI	rs6647
Biobank	rs6647
1000 genomes	rs6647
hgdp	rs6647
ensembl	rs6647
geneview	rs6647
scholar	rs6647
google	rs6647
pharmgkb	rs6647
gwascentral	rs6647
openSNP	rs6647
23andMe	rs6647
SNPshot	rs6647
SNPdbe	rs6647
MSV3d	rs6647
GWAS Ctlg	rs6647

GMAF

0.2438

Max Magnitude

0

rs6647, also known in ClinVar as c.710T>C, p.Val237Ala and V237A, and originally known as Val213, represents the site of the variation in the SERPINA1 gene that distinguishes the two Pi-M1 alleles, both of which are considered to be normal.

The rs6647(T) allele encodes the more common (in Caucasians) Pi-M1V (for Val) allele; rs6647(C) encodes the Pi-M1A (for Ala) allele, thought to be the ancestral/original allele in humans but now somewhat less common than Pi-M1V.

?

(C;C) (C;T) (T;T)

28

OMIM	107400
Desc	PI M1-VAL213
Variant	0002
Related	also

ClinVar
Risk	Rs6647(C;C)
Alt	Rs6647(C;C)
Reference	Rs6647(T;T)
Significance	Probable-non-pathogenic
Disease	PI M1-ALA213 PI not specified Alpha-1-antitrypsin deficiency
Variation	info
Gene	SERPINA1
CLNDBN	PI M1-ALA213 PI, M1V PI, M1A not specified Alpha-1-antitrypsin deficiency
Reversed	1
HGVS	NC_000014.8:g.94847415A\x3d; NC_000014.8:g.94847415A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019555.3, RCV000019556.28, RCV000019553.4, RCV000019554.29, RCV000151834.3, RCV000406073.1,

[PMID 22426792] Serum levels and genotype distribution of alpha1-antitrypsin in the general population.

[PMID 31298815] SERPINA1 gene polymorphisms in a population-based ALSPAC cohort.