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rs727502808

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727502808(G;G)
Make rs727502808(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position94590872
GeneTGDS
is asnp
is mentioned by
dbSNPrs727502808
dbSNP (classic)rs727502808
ClinGenrs727502808
ebirs727502808
HLIrs727502808
Exacrs727502808
Gnomadrs727502808
Varsomers727502808
LitVarrs727502808
Maprs727502808
PheGenIrs727502808
Biobankrs727502808
1000 genomesrs727502808
hgdprs727502808
ensemblrs727502808
geneviewrs727502808
scholarrs727502808
googlers727502808
pharmgkbrs727502808
gwascentralrs727502808
openSNPrs727502808
23andMers727502808
SNPshotrs727502808
SNPdbers727502808
MSV3drs727502808
GWAS Ctlgrs727502808
Max Magnitude0
ClinVar
Risk rs727502808(C;C) rs727502808(G;G)
Alt rs727502808(C;C) rs727502808(G;G)
Reference Rs727502808(T;T)
Significance Pathogenic
Disease Catel Manzke syndrome
Variation info
Gene TGDS
CLNDBN Catel Manzke syndrome
Reversed 1
HGVS NC_000013.10:g.95243126A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000149820.3,