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rs33917740

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33917740(C;G)
Make rs33917740(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position167789149
GeneSERPINI1
is asnp
is mentioned by
dbSNPrs33917740
ebirs33917740
HLIrs33917740
Exacrs33917740
Varsomers33917740
Maprs33917740
PheGenIrs33917740
hapmaprs33917740
1000 genomesrs33917740
hgdprs33917740
ensemblrs33917740
gopubmedrs33917740
geneviewrs33917740
scholarrs33917740
googlers33917740
pharmgkbrs33917740
gwascentralrs33917740
openSNPrs33917740
23andMers33917740
23andMe allrs33917740
SNP Nexus

SNPshotrs33917740
SNPdbers33917740
MSV3drs33917740
GWAS Ctlgrs33917740
GMAF0.1134
Max Magnitude0
Venter snp
Source plos
Gene SERPINI1
allele G
frequency
sift AFFECT FUNCTION
HuRef 1103656290410
Disease Association Defects in SERPINI1 are the cause of familial encephalopathy with neuroserpin inclusion bodies (FEN1B) (MIM:604218). FEN1B is characterized clinically as an autosomal dominantly inherited dementia, histologically by unique neuronal inclusion bodies and biochemically by polymers of neuroserpin.



GET Evidence
SERPINI1-F7L
aa_change Phe7Leu
aa_change_short F7L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.126325
summary