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rs28929470

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs28929470(C;T)
Make rs28929470(T;T)
ReferenceGRCh38 38.1/142
Chromosome14
Position94381049
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs28929470
ebirs28929470
HLIrs28929470
Exacrs28929470
Varsomers28929470
Maprs28929470
PheGenIrs28929470
hapmaprs28929470
1000 genomesrs28929470
hgdprs28929470
ensemblrs28929470
gopubmedrs28929470
geneviewrs28929470
scholarrs28929470
googlers28929470
pharmgkbrs28929470
gwascentralrs28929470
openSNPrs28929470
23andMers28929470
23andMe allrs28929470
SNP Nexus

SNPshotrs28929470
SNPdbers28929470
MSV3drs28929470
GWAS Ctlgrs28929470
GMAF0.001377
Max Magnitude0
OMIM107400
DescPI F
Variant0007
Relatedalso
Neighborrs28929472
Distance100
Neighborrs6647
Distance29


GET Evidence
SERPINA1-R247C
aa_change Arg247Cys
aa_change_short R247C
impact pathogenic
qualified_impact High clinical importance, Uncertain pathogenic
overall_frequency 0.00260271
summary Predicted to be damaging, other recessive mutations in this gene cause antitrypsin alpha 1 deficiency, and this variant is mentioned in an online database linking it to this disease.



ClinVar
Risk rs28929470(A,T;A,T)
Alt rs28929470(A,T;A,T)
Reference rs28929470(C;C)
Significance Other
Disease PI F Alpha-1-antitrypsin deficiency not specified
Variation info
Gene SERPINA1
CLNDBN PI F Alpha-1-antitrypsin deficiency not specified
Reversed 1
HGVS NC_000014.8:g.94847386G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019561.3, RCV000148879.1, RCV000151833.1, RCV000205893.1,