Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918295

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918295(C;T)
Make rs121918295(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position64220649
GeneFERMT3
is asnp
is mentioned by
dbSNPrs121918295
dbSNP (classic)rs121918295
ClinGenrs121918295
ebirs121918295
HLIrs121918295
Exacrs121918295
Gnomadrs121918295
Varsomers121918295
LitVarrs121918295
Maprs121918295
PheGenIrs121918295
Biobankrs121918295
1000 genomesrs121918295
hgdprs121918295
ensemblrs121918295
geneviewrs121918295
scholarrs121918295
googlers121918295
pharmgkbrs121918295
gwascentralrs121918295
openSNPrs121918295
23andMers121918295
SNPshotrs121918295
SNPdbers121918295
MSV3drs121918295
GWAS Ctlgrs121918295
Max Magnitude0
OMIM607901
Desc
Variant0001
Relatedalso
OMIM607901
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918295(T;T)
Alt rs121918295(T;T)
Reference Rs121918295(C;C)
Significance Pathogenic
Disease Leukocyte adhesion deficiency
Variation info
Gene FERMT3
CLNDBN Leukocyte adhesion deficiency, type III
Reversed 0
HGVS NC_000011.9:g.63988121C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002831.2,