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rs121965070

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121965070(A;T)
Make rs121965070(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186280065
GeneF11
is asnp
is mentioned by
dbSNPrs121965070
ebirs121965070
HLIrs121965070
Exacrs121965070
Varsomers121965070
Maprs121965070
PheGenIrs121965070
hapmaprs121965070
1000 genomesrs121965070
hgdprs121965070
ensemblrs121965070
gopubmedrs121965070
geneviewrs121965070
scholarrs121965070
googlers121965070
pharmgkbrs121965070
gwascentralrs121965070
openSNPrs121965070
23andMers121965070
23andMe allrs121965070
SNP Nexus

SNPshotrs121965070
SNPdbers121965070
MSV3drs121965070
GWAS Ctlgrs121965070
Max Magnitude0
OMIM264900
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121965070(T;T)
Alt rs121965070(T;T)
Reference rs121965070(A;A)
Significance Pathogenic
Disease Hereditary factor XI deficiency disease not provided
Variation info
Gene F11
CLNDBN Hereditary factor XI deficiency disease not provided
Reversed 0
HGVS NC_000004.11:g.187201219A>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000012677.22, RCV000059034.1,


[PMID 15180874] Severe factor XI deficiency caused by compound heterozygosity.