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rs786204429

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 5 Factor XI deficiency
(-;A) 3 carrier of factor XI mutation
(A;A) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position186280520
GeneF11
is asnp
is mentioned by
dbSNPrs786204429
dbSNP (classic)rs786204429
ClinGenrs786204429
ebirs786204429
HLIrs786204429
Exacrs786204429
Gnomadrs786204429
Varsomers786204429
LitVarrs786204429
Maprs786204429
PheGenIrs786204429
Biobankrs786204429
1000 genomesrs786204429
hgdprs786204429
ensemblrs786204429
geneviewrs786204429
scholarrs786204429
googlers786204429
pharmgkbrs786204429
gwascentralrs786204429
openSNPrs786204429
23andMers786204429
SNPshotrs786204429
SNPdbers786204429
MSV3drs786204429
GWAS Ctlgrs786204429
Max Magnitude5
ClinVar
Risk Rs786204429(-;-)
Alt Rs786204429(-;-)
Reference Rs786204429(A;A)
Significance Probable-Pathogenic
Disease Hereditary factor XI deficiency disease
Variation info
Gene F11
CLNDBN Hereditary factor XI deficiency disease
Reversed 0
HGVS NC_000004.11:g.187201674delA
CLNSRC
CLNACC RCV000169028.1,