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rs387906415

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCCG;CCCG) 0 common in clinvar
(CGCC;CGCC) 0 common/normal
(GCCC;GCCC) 0 common in clinvar
(I;I) 0 common genotype
Make rs387906415(-;-)
Make rs387906415(-;CGCC)
ReferenceGRCh38 38.1/141
Chromosome9
Position104814169
GeneABCA1
is asnp
is mentioned by
dbSNPrs387906415
dbSNP (classic)rs387906415
ClinGenrs387906415
ebirs387906415
HLIrs387906415
Exacrs387906415
Gnomadrs387906415
Varsomers387906415
LitVarrs387906415
Maprs387906415
PheGenIrs387906415
Biobankrs387906415
1000 genomesrs387906415
hgdprs387906415
ensemblrs387906415
geneviewrs387906415
scholarrs387906415
googlers387906415
pharmgkbrs387906415
gwascentralrs387906415
openSNPrs387906415
23andMers387906415
SNPshotrs387906415
SNPdbers387906415
MSV3drs387906415
GWAS Ctlgrs387906415
Max Magnitude0
ClinVar
Risk rs387906415(-;-)
Alt rs387906415(-;-)
Reference Rs387906415(CCCG;CCCG)
Significance Pathogenic
Disease Familial hypoalphalipoproteinemia
Variation info
Gene ABCA1
CLNDBN Familial hypoalphalipoproteinemia
Reversed 1
HGVS NC_000009.11:g.107576450_107576453delGGCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000010112.2,