rs28941786

Orientation

plus

Stabilized

plus

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

Make rs28941786(C;G)

Make rs28941786(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

70430388

Gene

CTH

is a	snp
is	mentioned by
dbSNP	rs28941786
dbSNP (classic)	rs28941786
ClinGen	rs28941786
ebi	rs28941786
HLI	rs28941786
Exac	rs28941786
Gnomad	rs28941786
Varsome	rs28941786
LitVar	rs28941786
Map	rs28941786
PheGenI	rs28941786
Biobank	rs28941786
1000 genomes	rs28941786
hgdp	rs28941786
ensembl	rs28941786
geneview	rs28941786
scholar	rs28941786
google	rs28941786
pharmgkb	rs28941786
gwascentral	rs28941786
openSNP	rs28941786
23andMe	rs28941786
SNPshot	rs28941786
SNPdbe	rs28941786
MSV3d	rs28941786
GWAS Ctlg	rs28941786

Max Magnitude

0

OMIM	607657
Desc	CYSTATHIONINURIA
Variant	0004
Related	also

ClinVar
Risk	rs28941786(G;G)
Alt	rs28941786(G;G)
Reference	Rs28941786(C;C)
Significance	Pathogenic
Disease	Cystathioninuria
Variation	info
Gene	CTH
CLNDBN	Cystathioninuria
Reversed	0
HGVS	NC_000001.10:g.70896071C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003074.3,