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rs875989817

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs875989817(-;-)
Make rs875989817(-;A)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position75965638
GeneTGFB3
is asnp
is mentioned by
dbSNPrs875989817
ebirs875989817
HLIrs875989817
Exacrs875989817
Varsomers875989817
Maprs875989817
PheGenIrs875989817
hapmaprs875989817
1000 genomesrs875989817
hgdprs875989817
ensemblrs875989817
gopubmedrs875989817
geneviewrs875989817
scholarrs875989817
googlers875989817
pharmgkbrs875989817
gwascentralrs875989817
openSNPrs875989817
23andMers875989817
23andMe allrs875989817
SNP Nexus

SNPshotrs875989817
SNPdbers875989817
MSV3drs875989817
GWAS Ctlgrs875989817
Max Magnitude0
ClinVar
Risk rs875989817(;)
Alt rs875989817(;)
Reference rs875989817(A;A)
Significance Pathogenic
Disease Loeys-Dietz syndrome 5
Variation info
Gene TGFB3
CLNDBN Loeys-Dietz syndrome 5
Reversed 1
HGVS NC_000014.8:g.76431981delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000185631.2,