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rs121909253

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909253(C;C)
Make rs121909253(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position59359243
GeneLMAN1
is asnp
is mentioned by
dbSNPrs121909253
ebirs121909253
HLIrs121909253
Exacrs121909253
Varsomers121909253
Maprs121909253
PheGenIrs121909253
hapmaprs121909253
1000 genomesrs121909253
hgdprs121909253
ensemblrs121909253
gopubmedrs121909253
geneviewrs121909253
scholarrs121909253
googlers121909253
pharmgkbrs121909253
gwascentralrs121909253
openSNPrs121909253
23andMers121909253
23andMe allrs121909253
SNP Nexus

SNPshotrs121909253
SNPdbers121909253
MSV3drs121909253
GWAS Ctlgrs121909253
Max Magnitude0
OMIM601567
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909253(C;C)
Alt rs121909253(C;C)
Reference rs121909253(T;T)
Significance Pathogenic
Disease Combined deficiency of factor V and factor VIII
Variation info
Gene LMAN1
CLNDBN Combined deficiency of factor V and factor VIII, 1
Reversed 1
HGVS NC_000018.9:g.57026475A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008532.3,