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rs1056574154

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position196318038
GeneLOC107986031, TCTEX1D2, TM4SF19-AS1, TM4SF19-TCTEX1D2
is asnp
is mentioned by
dbSNPrs1056574154
dbSNP (old)rs1056574154
ClinGenrs1056574154
ebirs1056574154
HLIrs1056574154
Exacrs1056574154
Gnomadrs1056574154
Varsomers1056574154
LitVarrs1056574154
Maprs1056574154
PheGenIrs1056574154
Biobankrs1056574154
1000 genomesrs1056574154
hgdprs1056574154
ensemblrs1056574154
gopubmedrs1056574154
geneviewrs1056574154
scholarrs1056574154
googlers1056574154
pharmgkbrs1056574154
gwascentralrs1056574154
openSNPrs1056574154
23andMers1056574154
23andMe allrs1056574154
SNPshotrs1056574154
SNPdbers1056574154
MSV3drs1056574154
GWAS Ctlgrs1056574154
Max Magnitude0
ClinVar
Risk rs1056574154(C;C)
Alt rs1056574154(C;C)
Reference Rs1056574154(G;G)
Significance Pathogenic
Disease Short-rib thoracic dysplasia 17 with or without polydactyly
Variation info
Gene
CLNDBN Short-rib thoracic dysplasia 17 with or without polydactyly
Reversed 0
HGVS NC_000003.11:g.196044909G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000477741.1,