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rs775982338

From SNPedia

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


Make rs775982338(-;-)
ReferenceGRCh38.p7 38.3/149
Chromosome14
Position94383009
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs775982338
dbSNP (classic)rs775982338
ClinGenrs775982338
ebirs775982338
HLIrs775982338
Exacrs775982338
Gnomadrs775982338
Varsomers775982338
LitVarrs775982338
Maprs775982338
PheGenIrs775982338
Biobankrs775982338
1000 genomesrs775982338
hgdprs775982338
ensemblrs775982338
geneviewrs775982338
scholarrs775982338
googlers775982338
pharmgkbrs775982338
gwascentralrs775982338
openSNPrs775982338
23andMers775982338
23andMe allrs775982338
SNPshotrs775982338
SNPdbers775982338
MSV3drs775982338
GWAS Ctlgrs775982338
Merged fromRs863225263
Max Magnitude3
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,