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rs544436734

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs544436734(A;G)
Make rs544436734(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position94578130
GeneTGDS
is asnp
is mentioned by
dbSNPrs544436734
dbSNP (classic)rs544436734
ClinGenrs544436734
ebirs544436734
HLIrs544436734
Exacrs544436734
Gnomadrs544436734
Varsomers544436734
LitVarrs544436734
Maprs544436734
PheGenIrs544436734
Biobankrs544436734
1000 genomesrs544436734
hgdprs544436734
ensemblrs544436734
geneviewrs544436734
scholarrs544436734
googlers544436734
pharmgkbrs544436734
gwascentralrs544436734
openSNPrs544436734
23andMers544436734
SNPshotrs544436734
SNPdbers544436734
MSV3drs544436734
GWAS Ctlgrs544436734
Max Magnitude0
ClinVar
Risk rs544436734(G;G)
Alt rs544436734(G;G)
Reference Rs544436734(A;A)
Significance Pathogenic
Disease Catel Manzke syndrome
Variation info
Gene TGDS
CLNDBN Catel Manzke syndrome
Reversed 0
HGVS NC_000013.10:g.95230384A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000149818.4,