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rs1057517171

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 5 Factor XI deficiency
(-;TCTGTGC) 3 carrier of factor XI mutation
(TCTGTGC;TCTGTGC) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position186287783
GeneF11, F11-AS1
is asnp
is mentioned by
dbSNPrs1057517171
dbSNP (classic)rs1057517171
ClinGenrs1057517171
ebirs1057517171
HLIrs1057517171
Exacrs1057517171
Gnomadrs1057517171
Varsomers1057517171
LitVarrs1057517171
Maprs1057517171
PheGenIrs1057517171
Biobankrs1057517171
1000 genomesrs1057517171
hgdprs1057517171
ensemblrs1057517171
geneviewrs1057517171
scholarrs1057517171
googlers1057517171
pharmgkbrs1057517171
gwascentralrs1057517171
openSNPrs1057517171
23andMers1057517171
SNPshotrs1057517171
SNPdbers1057517171
MSV3drs1057517171
GWAS Ctlgrs1057517171
Max Magnitude5
ClinVar
Risk Rs1057517171(-;-)
Alt Rs1057517171(-;-)
Reference Rs1057517171(TCTGTGC;TCTGTGC)
Significance Probable-Pathogenic
Disease Hereditary factor XI deficiency disease
Variation info
Gene F11-AS1 F11
CLNDBN Hereditary factor XI deficiency disease
Reversed 0
HGVS NC_000004.11:g.187208937_187208943delTCTGTGC
CLNSRC
CLNACC RCV000411882.1,