rs2230808

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs2230808(A;G)

Make rs2230808(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

104800523

Gene

ABCA1

is a	snp
is	mentioned by
dbSNP	rs2230808
dbSNP (classic)	rs2230808
ClinGen	rs2230808
ebi	rs2230808
HLI	rs2230808
Exac	rs2230808
Gnomad	rs2230808
Varsome	rs2230808
LitVar	rs2230808
Map	rs2230808
PheGenI	rs2230808
Biobank	rs2230808
1000 genomes	rs2230808
hgdp	rs2230808
ensembl	rs2230808
geneview	rs2230808
scholar	rs2230808
google	rs2230808
pharmgkb	rs2230808
gwascentral	rs2230808
openSNP	rs2230808
23andMe	rs2230808
SNPshot	rs2230808
SNPdbe	rs2230808
MSV3d	rs2230808
GWAS Ctlg	rs2230808

GMAF

0.4109

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

[PMID 17510949] rs2297404, rs2230808, and rs2020927 haplotype (CAC) was more prevalent in the Alzheimer's disease group (0.323 in AD vs. 0.202 in control); while haplotype1 (TGG) was over-represented in the healthy controls (0.595 in control vs. 0.493 in AD)

[PMID 22668585 ] Association of gender, ABCA1 gene polymorphisms and lipid profile in Greek young nurses

[PMID 12600718] ABCA1 modulates CSF cholesterol levels and influences the age at onset of Alzheimer's disease.

[PMID 17324514 ] ABCA1 polymorphisms and Alzheimer's disease.

[PMID 17430597 ] Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms.

[PMID 17553166 ] The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile.

[PMID 19041386 ] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

[PMID 19606474 ] A survey of ABCA1 sequence variation confirms association with dementia.

[PMID 21839797] A polymorphism of the ABCA1 gene confers susceptibility to schizophrenia and related brain changes.

[PMID 23111454] Quantitative assessment of the effect of ABCA1 gene polymorphism on the risk of Alzheimer's disease

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

ClinVar
Risk	rs2230808(G;G)
Alt	rs2230808(G;G)
Reference	Rs2230808(A;A)
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.107562804T>C
CLNSRC
CLNACC	RCV000312801.1, RCV000356155.1,