rs137854494

Orientation

minus

Stabilized

minus

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

Make rs137854494(C;C)

Make rs137854494(C;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

104806276

Gene

ABCA1

is a	snp
is	mentioned by
dbSNP	rs137854494
dbSNP (classic)	rs137854494
ClinGen	rs137854494
ebi	rs137854494
HLI	rs137854494
Exac	rs137854494
Gnomad	rs137854494
Varsome	rs137854494
LitVar	rs137854494
Map	rs137854494
PheGenI	rs137854494
Biobank	rs137854494
1000 genomes	rs137854494
hgdp	rs137854494
ensembl	rs137854494
geneview	rs137854494
scholar	rs137854494
google	rs137854494
pharmgkb	rs137854494
gwascentral	rs137854494
openSNP	rs137854494
23andMe	rs137854494
SNPshot	rs137854494
SNPdbe	rs137854494
MSV3d	rs137854494
GWAS Ctlg	rs137854494

Max Magnitude

0

OMIM	600046
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137854494(C;C)
Alt	rs137854494(C;C)
Reference	Rs137854494(T;T)
Significance	Pathogenic
Disease	Tangier disease
Variation	info
Gene	ABCA1
CLNDBN	Tangier disease
Reversed	1
HGVS	NC_000009.11:g.107568557A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010091.4,