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rs2070863

From SNPedia

Orientationplus
Stabilizedplus
Make rs2070863(C;C)
Make rs2070863(C;T)
Make rs2070863(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position1745208
GeneSERPINF2
is asnp
is mentioned by
dbSNPrs2070863
ebirs2070863
HLIrs2070863
Exacrs2070863
Varsomers2070863
Maprs2070863
PheGenIrs2070863
hapmaprs2070863
1000 genomesrs2070863
hgdprs2070863
ensemblrs2070863
gopubmedrs2070863
geneviewrs2070863
scholarrs2070863
googlers2070863
pharmgkbrs2070863
gwascentralrs2070863
openSNPrs2070863
23andMers2070863
23andMe allrs2070863
SNP Nexus

SNPshotrs2070863
SNPdbers2070863
MSV3drs2070863
GWAS Ctlgrs2070863
GMAF0.1915
Max Magnitude
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene SERPINF2
allele T
frequency 0.233
sift
HuRef 1103645260004
Disease Association Defects in SERPINF2 are the cause of alpha-2-plasmin inhibitor deficiency (MIM:262850); a disease resulting in severe hemorrhagic diathesis.



GET Evidence
SERPINF2-R33W
aa_change Arg33Trp
aa_change_short R33W
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.200773
summary