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rs33926449

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common on affy axiom data
Make rs33926449(A;G)
Make rs33926449(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position59359129
GeneLMAN1
is asnp
is mentioned by
dbSNPrs33926449
ebirs33926449
HLIrs33926449
Exacrs33926449
Varsomers33926449
Maprs33926449
PheGenIrs33926449
hapmaprs33926449
1000 genomesrs33926449
hgdprs33926449
ensemblrs33926449
gopubmedrs33926449
geneviewrs33926449
scholarrs33926449
googlers33926449
pharmgkbrs33926449
gwascentralrs33926449
openSNPrs33926449
23andMers33926449
23andMe allrs33926449
SNP Nexus

SNPshotrs33926449
SNPdbers33926449
MSV3drs33926449
GWAS Ctlgrs33926449
GMAF0.07576
Max Magnitude0
Venter snp
Source plos
Gene LMAN1
allele G
frequency
sift TOLERATED
HuRef 1103645212238
Disease Association Defects in LMAN1 are a cause of factor V and factor VIII combined deficiency (F5F8D) (MIM:227300); also known as multiple coagulation factor deficiency I (MCFD1). F5F8D is an autosomal recessive bleeding disorder characterized by coordinate reduction of both clotting proteins. Affected patients present with a moderate bleeding tendency and have factor V and factor VIII levels in the range of 5-30% of normal.



GET Evidence
LMAN1-V39A
aa_change Val39Ala
aa_change_short V39A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.10173
summary