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rs137852358

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852358(A;A)
Make rs137852358(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154861758
GeneF8
is asnp
is mentioned by
dbSNPrs137852358
dbSNP (classic)rs137852358
ClinGenrs137852358
ebirs137852358
HLIrs137852358
Exacrs137852358
Gnomadrs137852358
Varsomers137852358
LitVarrs137852358
Maprs137852358
PheGenIrs137852358
Biobankrs137852358
1000 genomesrs137852358
hgdprs137852358
ensemblrs137852358
geneviewrs137852358
scholarrs137852358
googlers137852358
pharmgkbrs137852358
gwascentralrs137852358
openSNPrs137852358
23andMers137852358
SNPshotrs137852358
SNPdbers137852358
MSV3drs137852358
GWAS Ctlgrs137852358
Merged fromRs28935201
Max Magnitude0
OMIM306700
Desc
Variant0014
Relatedalso
OMIM306700
Desc
Variant0241
Relatedalso
ClinVar
Risk rs137852358(A;A) rs137852358(T;T)
Alt rs137852358(A;A) rs137852358(T;T)
Reference Rs137852358(G;G)
Significance Pathogenic
Disease Hereditary factor VIII deficiency disease
Variation info
Gene F8
CLNDBN Hereditary factor VIII deficiency disease
Reversed 1
HGVS NC_000023.10:g.154090033C>A; NC_000023.10:g.154090033C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011037.7, RCV000010810.6,