Have questions? Visit https://www.reddit.com/r/SNPedia

rs28941786

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28941786(C;G)
Make rs28941786(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position70430388
GeneCTH
is asnp
is mentioned by
dbSNPrs28941786
ebirs28941786
HLIrs28941786
Exacrs28941786
Varsomers28941786
Maprs28941786
PheGenIrs28941786
hapmaprs28941786
1000 genomesrs28941786
hgdprs28941786
ensemblrs28941786
gopubmedrs28941786
geneviewrs28941786
scholarrs28941786
googlers28941786
pharmgkbrs28941786
gwascentralrs28941786
openSNPrs28941786
23andMers28941786
23andMe allrs28941786
SNP Nexus

SNPshotrs28941786
SNPdbers28941786
MSV3drs28941786
GWAS Ctlgrs28941786
Max Magnitude0
OMIM607657
DescCYSTATHIONINURIA
Variant0004
Relatedalso
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
CLNACC RCV000003074.2,