rs28942110

Orientation

minus

Stabilized

minus

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

Make rs28942110(A;A)

Make rs28942110(A;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

134607010

Gene

SAR1B

is a	snp
is	mentioned by
dbSNP	rs28942110
dbSNP (classic)	rs28942110
ClinGen	rs28942110
ebi	rs28942110
HLI	rs28942110
Exac	rs28942110
Gnomad	rs28942110
Varsome	rs28942110
LitVar	rs28942110
Map	rs28942110
PheGenI	rs28942110
Biobank	rs28942110
1000 genomes	rs28942110
hgdp	rs28942110
ensembl	rs28942110
geneview	rs28942110
scholar	rs28942110
google	rs28942110
pharmgkb	rs28942110
gwascentral	rs28942110
openSNP	rs28942110
23andMe	rs28942110
SNPshot	rs28942110
SNPdbe	rs28942110
MSV3d	rs28942110
GWAS Ctlg	rs28942110

Max Magnitude

0

OMIM	607690
Desc	CHYLOMICRON RETENTION DISEASE
Variant	0004
Related	also

ClinVar
Risk	rs28942110(A;A)
Alt	rs28942110(A;A)
Reference	Rs28942110(T;T)
Significance	Pathogenic
Disease	Chylomicron retention disease
Variation	info
Gene	SAR1B
CLNDBN	Chylomicron retention disease
Reversed	1
HGVS	NC_000005.9:g.133942700A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003059.2,