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rs869312031

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312031(C;C)
Make rs869312031(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome18
Position59338758
GeneLMAN1
is asnp
is mentioned by
dbSNPrs869312031
ebirs869312031
HLIrs869312031
Exacrs869312031
Varsomers869312031
Maprs869312031
PheGenIrs869312031
hapmaprs869312031
1000 genomesrs869312031
hgdprs869312031
ensemblrs869312031
gopubmedrs869312031
geneviewrs869312031
scholarrs869312031
googlers869312031
pharmgkbrs869312031
gwascentralrs869312031
openSNPrs869312031
23andMers869312031
23andMe allrs869312031
SNP Nexus

SNPshotrs869312031
SNPdbers869312031
MSV3drs869312031
GWAS Ctlgrs869312031
Max Magnitude0
ClinVar
Risk rs869312031(C;C)
Alt rs869312031(C;C)
Reference rs869312031(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.57005990A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008529.2,