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rs875989816

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs875989816(C;C)
Make rs875989816(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position75965586
GeneTGFB3
is asnp
is mentioned by
dbSNPrs875989816
ebirs875989816
HLIrs875989816
Exacrs875989816
Varsomers875989816
Maprs875989816
PheGenIrs875989816
hapmaprs875989816
1000 genomesrs875989816
hgdprs875989816
ensemblrs875989816
gopubmedrs875989816
geneviewrs875989816
scholarrs875989816
googlers875989816
pharmgkbrs875989816
gwascentralrs875989816
openSNPrs875989816
23andMers875989816
23andMe allrs875989816
SNP Nexus

SNPshotrs875989816
SNPdbers875989816
MSV3drs875989816
GWAS Ctlgrs875989816
Max Magnitude0
ClinVar
Risk rs875989816(C;C)
Alt rs875989816(C;C)
Reference rs875989816(T;T)
Significance Pathogenic
Disease Loeys-Dietz syndrome 5
Variation info
Gene TGFB3
CLNDBN Loeys-Dietz syndrome 5
Reversed 1
HGVS NC_000014.8:g.76431929A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000185629.2,