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rs869312032

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312032(-;-)
Make rs869312032(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome18
Position59347539
GeneLMAN1
is asnp
is mentioned by
dbSNPrs869312032
ebirs869312032
HLIrs869312032
Exacrs869312032
Varsomers869312032
Maprs869312032
PheGenIrs869312032
hapmaprs869312032
1000 genomesrs869312032
hgdprs869312032
ensemblrs869312032
gopubmedrs869312032
geneviewrs869312032
scholarrs869312032
googlers869312032
pharmgkbrs869312032
gwascentralrs869312032
openSNPrs869312032
23andMers869312032
23andMe allrs869312032
SNP Nexus

SNPshotrs869312032
SNPdbers869312032
MSV3drs869312032
GWAS Ctlgrs869312032
Max Magnitude0
ClinVar
Risk rs869312032(;)
Alt rs869312032(;)
Reference rs869312032(C;C)
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.57014771delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000008530.3,