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rs869312033

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312033(-;-)
Make rs869312033(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome18
Position59333109
GeneLMAN1
is asnp
is mentioned by
dbSNPrs869312033
ebirs869312033
HLIrs869312033
Exacrs869312033
Varsomers869312033
Maprs869312033
PheGenIrs869312033
hapmaprs869312033
1000 genomesrs869312033
hgdprs869312033
ensemblrs869312033
gopubmedrs869312033
geneviewrs869312033
scholarrs869312033
googlers869312033
pharmgkbrs869312033
gwascentralrs869312033
openSNPrs869312033
23andMers869312033
23andMe allrs869312033
SNP Nexus

SNPshotrs869312033
SNPdbers869312033
MSV3drs869312033
GWAS Ctlgrs869312033
Max Magnitude0
ClinVar
Risk rs869312033(;)
Alt rs869312033(;)
Reference rs869312033(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.57000341delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000008531.3,