rs28937314

Orientation

minus

Stabilized

minus

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

Make rs28937314(A;C)

Make rs28937314(C;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

104822521

Gene

ABCA1

is a	snp
is	mentioned by
dbSNP	rs28937314
dbSNP (classic)	rs28937314
ClinGen	rs28937314
ebi	rs28937314
HLI	rs28937314
Exac	rs28937314
Gnomad	rs28937314
Varsome	rs28937314
LitVar	rs28937314
Map	rs28937314
PheGenI	rs28937314
Biobank	rs28937314
1000 genomes	rs28937314
hgdp	rs28937314
ensembl	rs28937314
geneview	rs28937314
scholar	rs28937314
google	rs28937314
pharmgkb	rs28937314
gwascentral	rs28937314
openSNP	rs28937314
23andMe	rs28937314
SNPshot	rs28937314
SNPdbe	rs28937314
MSV3d	rs28937314
GWAS Ctlg	rs28937314

Max Magnitude

0

OMIM	600046
Desc	TANGIER DISEASE
Variant	0015
Related	also

ClinVar
Risk	rs28937314(C;C) rs28937314(G;G)
Alt	rs28937314(C;C) rs28937314(G;G)
Reference	Rs28937314(A;A)
Significance	Pathogenic
Disease	Tangier disease
Variation	info
Gene	ABCA1
CLNDBN	Tangier disease
Reversed	1
HGVS	NC_000009.11:g.107584802T>C; NC_000009.11:g.107584802T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000415392.1, RCV000010106.3,