rs137854498

Orientation

minus

Stabilized

minus

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

Make rs137854498(C;T)

Make rs137854498(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

104798504

Gene

ABCA1

is a	snp
is	mentioned by
dbSNP	rs137854498
dbSNP (classic)	rs137854498
ClinGen	rs137854498
ebi	rs137854498
HLI	rs137854498
Exac	rs137854498
Gnomad	rs137854498
Varsome	rs137854498
LitVar	rs137854498
Map	rs137854498
PheGenI	rs137854498
Biobank	rs137854498
1000 genomes	rs137854498
hgdp	rs137854498
ensembl	rs137854498
geneview	rs137854498
scholar	rs137854498
google	rs137854498
pharmgkb	rs137854498
gwascentral	rs137854498
openSNP	rs137854498
23andMe	rs137854498
SNPshot	rs137854498
SNPdbe	rs137854498
MSV3d	rs137854498
GWAS Ctlg	rs137854498

Max Magnitude

0

OMIM	600046
Desc
Variant	0017
Related	also

ClinVar
Risk	rs137854498(A;A) rs137854498(T;T)
Alt	rs137854498(A;A) rs137854498(T;T)
Reference	Rs137854498(C;C)
Significance	Pathogenic
Disease	Tangier disease
Variation	info
Gene	ABCA1
CLNDBN	Tangier disease, variant
Reversed	1
HGVS	NC_000009.11:g.107560785G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010108.4,