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rs28941785

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28941785(C;T)
Make rs28941785(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position70415987
GeneCTH
is asnp
is mentioned by
dbSNPrs28941785
ebirs28941785
HLIrs28941785
Exacrs28941785
Varsomers28941785
Maprs28941785
PheGenIrs28941785
hapmaprs28941785
1000 genomesrs28941785
hgdprs28941785
ensemblrs28941785
gopubmedrs28941785
geneviewrs28941785
scholarrs28941785
googlers28941785
pharmgkbrs28941785
gwascentralrs28941785
openSNPrs28941785
23andMers28941785
23andMe allrs28941785
SNP Nexus

SNPshotrs28941785
SNPdbers28941785
MSV3drs28941785
GWAS Ctlgrs28941785
GMAF0.003214
Max Magnitude0
OMIM607657
DescCYSTATHIONINURIA
Variant0003
Relatedalso


ClinVar
Risk rs28941785(A,T;A,T)
Alt rs28941785(A,T;A,T)
Reference rs28941785(C;C)
Significance Pathogenic
Disease Cystathioninuria
Variation info
Gene CTH
CLNDBN Cystathioninuria
Reversed 0
HGVS NC_000001.10:g.70881670C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003073.2,