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rs363717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs363717(A;A)
Make rs363717(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position104782419
GeneABCA1
is asnp
is mentioned by
dbSNPrs363717
dbSNP (classic)rs363717
ClinGenrs363717
ebirs363717
HLIrs363717
Exacrs363717
Gnomadrs363717
Varsomers363717
LitVarrs363717
Maprs363717
PheGenIrs363717
Biobankrs363717
1000 genomesrs363717
hgdprs363717
ensemblrs363717
geneviewrs363717
scholarrs363717
googlers363717
pharmgkbrs363717
gwascentralrs363717
openSNPrs363717
23andMers363717
SNPshotrs363717
SNPdbers363717
MSV3drs363717
GWAS Ctlgrs363717
GMAF0.1515
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 21245421] Genetic Factors Underlying the Risk of Thalidomide-Related Neuropathy in Patients With Multiple Myeloma

[PMID 17685456OA-icon.png] Examining the effect of linkage disequilibrium between markers on the Type I error rate and power of nonparametric multipoint linkage analysis of two-generation and multigenerational pedigrees in the presence of missing genotype data.

[PMID 19606474OA-icon.png] A survey of ABCA1 sequence variation confirms association with dementia.


[PMID 26722555OA-icon.png] Association of ATP-binding cassette transporter A1 gene polymorphisms with plasma lipid variability and coronary heart disease risk.


ClinVar
Risk rs363717(A;A)
Alt rs363717(A;A)
Reference Rs363717(G;G)
Significance Non-pathogenic
Disease Familial High Density Lipoprotein Deficiency Tangier disease
Variation info
Gene ABCA1
CLNDBN Familial High Density Lipoprotein Deficiency Tangier disease
Reversed 1
HGVS NC_000009.11:g.107544700C>T
CLNSRC
CLNACC RCV000296142.1, RCV000394913.1,