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rs869312030

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs869312030(-;G)
Make rs869312030(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome18
Position59359155
GeneLMAN1
is asnp
is mentioned by
dbSNPrs869312030
dbSNP (old)rs869312030
ClinGenrs869312030
ebirs869312030
HLIrs869312030
Exacrs869312030
Varsomers869312030
Maprs869312030
PheGenIrs869312030
Biobankrs869312030
1000 genomesrs869312030
hgdprs869312030
ensemblrs869312030
gopubmedrs869312030
geneviewrs869312030
scholarrs869312030
googlers869312030
pharmgkbrs869312030
gwascentralrs869312030
openSNPrs869312030
23andMers869312030
23andMe allrs869312030
SNP Nexus

SNPshotrs869312030
SNPdbers869312030
MSV3drs869312030
GWAS Ctlgrs869312030
Max Magnitude0
ClinVar
Risk rs869312030(G;G)
Alt rs869312030(G;G)
Reference Rs869312030(-;-)
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.57026388dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000008528.2,