rs28942109

Orientation

minus

Stabilized

minus

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

Make rs28942109(A;A)

Make rs28942109(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

134608443

Gene

SAR1B

is a	snp
is	mentioned by
dbSNP	rs28942109
dbSNP (classic)	rs28942109
ClinGen	rs28942109
ebi	rs28942109
HLI	rs28942109
Exac	rs28942109
Gnomad	rs28942109
Varsome	rs28942109
LitVar	rs28942109
Map	rs28942109
PheGenI	rs28942109
Biobank	rs28942109
1000 genomes	rs28942109
hgdp	rs28942109
ensembl	rs28942109
geneview	rs28942109
scholar	rs28942109
google	rs28942109
pharmgkb	rs28942109
gwascentral	rs28942109
openSNP	rs28942109
23andMe	rs28942109
SNPshot	rs28942109
SNPdbe	rs28942109
MSV3d	rs28942109
GWAS Ctlg	rs28942109

Max Magnitude

0

OMIM	607690
Desc	CHYLOMICRON RETENTION DISEASE
Variant	0002
Related	also

ClinVar
Risk	rs28942109(A;A)
Alt	rs28942109(A;A)
Reference	Rs28942109(G;G)
Significance	Pathogenic
Disease	Chylomicron retention disease
Variation	info
Gene	SAR1B
CLNDBN	Chylomicron retention disease
Reversed	1
HGVS	NC_000005.9:g.133944133C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003057.3,