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rs140430952

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140430952(A;A)
Make rs140430952(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position94590868
GeneTGDS
is asnp
is mentioned by
dbSNPrs140430952
ebirs140430952
HLIrs140430952
Exacrs140430952
Varsomers140430952
Maprs140430952
PheGenIrs140430952
hapmaprs140430952
1000 genomesrs140430952
hgdprs140430952
ensemblrs140430952
gopubmedrs140430952
geneviewrs140430952
scholarrs140430952
googlers140430952
pharmgkbrs140430952
gwascentralrs140430952
openSNPrs140430952
23andMers140430952
23andMe allrs140430952
SNP Nexus

SNPshotrs140430952
SNPdbers140430952
MSV3drs140430952
GWAS Ctlgrs140430952
Max Magnitude0
ClinVar
Risk rs140430952(A,T;A,T)
Alt rs140430952(A,T;A,T)
Reference rs140430952(C;C)
Significance Pathogenic
Disease Catel Manzke syndrome
Variation info
Gene TGDS
CLNDBN Catel Manzke syndrome
Reversed 0
HGVS NC_000013.10:g.95243122C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149817.4,