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rs111033611

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033611(C;C)
Make rs111033611(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41352804
GeneTGFB1
is asnp
is mentioned by
dbSNPrs111033611
ebirs111033611
HLIrs111033611
Exacrs111033611
Varsomers111033611
Maprs111033611
PheGenIrs111033611
hapmaprs111033611
1000 genomesrs111033611
hgdprs111033611
ensemblrs111033611
gopubmedrs111033611
geneviewrs111033611
scholarrs111033611
googlers111033611
pharmgkbrs111033611
gwascentralrs111033611
openSNPrs111033611
23andMers111033611
23andMe allrs111033611
SNP Nexus

SNPshotrs111033611
SNPdbers111033611
MSV3drs111033611
GWAS Ctlgrs111033611
Max Magnitude0
OMIM190180
Desc
Variant0004
Relatedalso
ClinVar
Risk rs111033611(C;C)
Alt rs111033611(C;C)
Reference rs111033611(T;T)
Significance Pathogenic
Disease Diaphyseal dysplasia
Variation info
Gene TMEM91 TGFB1
CLNDBN Diaphyseal dysplasia
Reversed 1
HGVS NC_000019.9:g.41858709A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013358.23,