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rs387906466

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 5.5 Hemophilia A (severity varies)
(-;AAATC) 3.5 Carrier of a Hemophilia A mutation
(AATCA;AATCA) 0 common in clinvar
(ATCAA;ATCAA) 0 common in clinvar
(I;I) 0 common genotype
Make rs387906466(AAATC;AAATC)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154837737
GeneF8
is asnp
is mentioned by
dbSNPrs387906466
dbSNP (classic)rs387906466
ClinGenrs387906466
ebirs387906466
HLIrs387906466
Exacrs387906466
Gnomadrs387906466
Varsomers387906466
LitVarrs387906466
Maprs387906466
PheGenIrs387906466
Biobankrs387906466
1000 genomesrs387906466
hgdprs387906466
ensemblrs387906466
geneviewrs387906466
scholarrs387906466
googlers387906466
pharmgkbrs387906466
gwascentralrs387906466
openSNPrs387906466
23andMers387906466
SNPshotrs387906466
SNPdbers387906466
MSV3drs387906466
GWAS Ctlgrs387906466
Max Magnitude5.5
ClinVar
Risk Rs387906466(-;-)
Alt Rs387906466(-;-)
Reference Rs387906466(ATCAA;ATCAA)
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.154066012_154066016delGATTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000011044.2,