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rs6647

From SNPedia

Pi-M allele
Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/142
Chromosome14
Position94381078
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs6647
dbSNP (old)rs6647
ClinGenrs6647
ebirs6647
HLIrs6647
Exacrs6647
Varsomers6647
Maprs6647
PheGenIrs6647
Biobankrs6647
1000 genomesrs6647
hgdprs6647
ensemblrs6647
gopubmedrs6647
geneviewrs6647
scholarrs6647
googlers6647
pharmgkbrs6647
gwascentralrs6647
openSNPrs6647
23andMers6647
23andMe allrs6647
SNP Nexus

SNPshotrs6647
SNPdbers6647
MSV3drs6647
GWAS Ctlgrs6647
GMAF0.2438
Max Magnitude0

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
OMIM107400
DescPI M1-VAL213
Variant0002
Relatedalso
Neighborrs28929470
Distance29


Venter snp
Source plos
Gene SERPINA1
allele G
frequency 0.225
sift TOLERATED
HuRef 1103649133295
Disease Association Variant Pittsburgh is the cause of bleeding diathesis.



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.


GET Evidence
SERPINA1-V237A
aa_change Val237Ala
aa_change_short V237A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.326548
summary