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rs200482214

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200482214(A;A)
Make rs200482214(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position41348345
GeneTGFB1
is asnp
is mentioned by
dbSNPrs200482214
ebirs200482214
HLIrs200482214
Exacrs200482214
Varsomers200482214
Maprs200482214
PheGenIrs200482214
hapmaprs200482214
1000 genomesrs200482214
hgdprs200482214
ensemblrs200482214
gopubmedrs200482214
geneviewrs200482214
scholarrs200482214
googlers200482214
pharmgkbrs200482214
gwascentralrs200482214
openSNPrs200482214
23andMers200482214
23andMe allrs200482214
SNP Nexus

SNPshotrs200482214
SNPdbers200482214
MSV3drs200482214
GWAS Ctlgrs200482214
Max Magnitude0
ClinVar
Risk rs200482214(A;A)
Alt rs200482214(A;A)
Reference rs200482214(G;G)
Significance Pathogenic
Disease Diaphyseal dysplasia
Variation info
Gene TGFB1
CLNDBN Diaphyseal dysplasia
Reversed 0
HGVS NC_000019.10:g.41348345G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032147.1,