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rs1057335

From SNPedia

Orientationplus
Stabilizedplus
Make rs1057335(A;A)
Make rs1057335(A;G)
Make rs1057335(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position1754359
GeneSERPINF2
is asnp
is mentioned by
dbSNPrs1057335
ebirs1057335
HLIrs1057335
Exacrs1057335
Varsomers1057335
Maprs1057335
PheGenIrs1057335
hapmaprs1057335
1000 genomesrs1057335
hgdprs1057335
ensemblrs1057335
gopubmedrs1057335
geneviewrs1057335
scholarrs1057335
googlers1057335
pharmgkbrs1057335
gwascentralrs1057335
openSNPrs1057335
23andMers1057335
23andMe allrs1057335
SNP Nexus

SNPshotrs1057335
SNPdbers1057335
MSV3drs1057335
GWAS Ctlgrs1057335
GMAF0.163
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene SERPINF2
allele A
frequency 0.28
sift TOLERATED
HuRef 1103645260030
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-R434K
aa_change Arg434Lys
aa_change_short R434K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.188883
summary