rs137854496

Orientation

minus

Stabilized

minus

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

Make rs137854496(C;C)

Make rs137854496(C;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

104831048

Gene

ABCA1

is a	snp
is	mentioned by
dbSNP	rs137854496
dbSNP (classic)	rs137854496
ClinGen	rs137854496
ebi	rs137854496
HLI	rs137854496
Exac	rs137854496
Gnomad	rs137854496
Varsome	rs137854496
LitVar	rs137854496
Map	rs137854496
PheGenI	rs137854496
Biobank	rs137854496
1000 genomes	rs137854496
hgdp	rs137854496
ensembl	rs137854496
geneview	rs137854496
scholar	rs137854496
google	rs137854496
pharmgkb	rs137854496
gwascentral	rs137854496
openSNP	rs137854496
23andMe	rs137854496
SNPshot	rs137854496
SNPdbe	rs137854496
MSV3d	rs137854496
GWAS Ctlg	rs137854496

Max Magnitude

0

OMIM	600046
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137854496(C;C) rs137854496(T;T)
Alt	rs137854496(C;C) rs137854496(T;T)
Reference	Rs137854496(G;G)
Significance	Pathogenic
Disease	Tangier disease ABCA1-Related Disorders
Variation	info
Gene	ABCA1
CLNDBN	Tangier disease ABCA1-Related Disorders
Reversed	1
HGVS	NC_000009.11:g.107593329C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010098.3, RCV000381095.1,