rs28934892

Orientation

minus

Stabilized

minus

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

Make rs28934892(C;T)

Make rs28934892(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

43058927

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs28934892
dbSNP (classic)	rs28934892
ClinGen	rs28934892
ebi	rs28934892
HLI	rs28934892
Exac	rs28934892
Gnomad	rs28934892
Varsome	rs28934892
LitVar	rs28934892
Map	rs28934892
PheGenI	rs28934892
Biobank	rs28934892
1000 genomes	rs28934892
hgdp	rs28934892
ensembl	rs28934892
geneview	rs28934892
scholar	rs28934892
google	rs28934892
pharmgkb	rs28934892
gwascentral	rs28934892
openSNP	rs28934892
23andMe	rs28934892
SNPshot	rs28934892
SNPdbe	rs28934892
MSV3d	rs28934892
GWAS Ctlg	rs28934892

Max Magnitude

0

OMIM	236200
Desc	THROMBOSIS, HYPERHOMOCYSTEINEMIC
Variant	0013
Related	also

OMIM	613381
Desc
Variant	0013
Related	also

ClinVar
Risk	rs28934892(T;T)
Alt	rs28934892(T;T)
Reference	Rs28934892(C;C)
Significance	Pathogenic
Disease	HYPERHOMOCYSTEINEMIA
Variation	info
Gene	CBSL CBS
CLNDBN	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Reversed	1
HGVS	NC_000021.8:g.44479037G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000152.2,