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rs1057517116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 5 Factor XI deficiency
(-;CGCGCAGCTTGT) 3 carrier of factor XI mutation
(CGCGCAGCTTGT;CGCGCAGCTTGT) 0 common/normal
(GTCGCGCAGCTT;GTCGCGCAGCTT) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position186276224
GeneF11
is asnp
is mentioned by
dbSNPrs1057517116
dbSNP (classic)rs1057517116
ClinGenrs1057517116
ebirs1057517116
HLIrs1057517116
Exacrs1057517116
Gnomadrs1057517116
Varsomers1057517116
LitVarrs1057517116
Maprs1057517116
PheGenIrs1057517116
Biobankrs1057517116
1000 genomesrs1057517116
hgdprs1057517116
ensemblrs1057517116
geneviewrs1057517116
scholarrs1057517116
googlers1057517116
pharmgkbrs1057517116
gwascentralrs1057517116
openSNPrs1057517116
23andMers1057517116
23andMe allrs1057517116
SNPshotrs1057517116
SNPdbers1057517116
MSV3drs1057517116
GWAS Ctlgrs1057517116
Max Magnitude5
ClinVar
Risk Rs1057517116(-;-)
Alt Rs1057517116(-;-)
Reference Rs1057517116(GTCGCGCAGCTT;GTCGCGCAGCTT)
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.187197378_187197389delCGCGCAGCTTGT
CLNSRC
CLNACC RCV000411048.1,