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rs104893815

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893815(A;A)
Make rs104893815(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position30691478
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs104893815
ebirs104893815
HLIrs104893815
Exacrs104893815
Varsomers104893815
Maprs104893815
PheGenIrs104893815
hapmaprs104893815
1000 genomesrs104893815
hgdprs104893815
ensemblrs104893815
gopubmedrs104893815
geneviewrs104893815
scholarrs104893815
googlers104893815
pharmgkbrs104893815
gwascentralrs104893815
openSNPrs104893815
23andMers104893815
23andMe allrs104893815
SNP Nexus

SNPshotrs104893815
SNPdbers104893815
MSV3drs104893815
GWAS Ctlgrs104893815
Max Magnitude0
OMIM190182
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104893815(A;A)
Alt rs104893815(A;A)
Reference rs104893815(G;G)
Significance Pathogenic
Disease Loeys-Dietz syndrome 2 Hereditary nonpolyposis colorectal cancer type 6 not provided Loeys-Dietz syndrome
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome 2 Hereditary nonpolyposis colorectal cancer type 6 not provided Loeys-Dietz syndrome
Reversed 0
HGVS NC_000003.11:g.30732970G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013335.27, RCV000013336.6, RCV000200178.2, RCV000211858.1,