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rs398122885

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122885(A;A)
Make rs398122885(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position218434381
GeneTGFB2
is asnp
is mentioned by
dbSNPrs398122885
ebirs398122885
HLIrs398122885
Exacrs398122885
Varsomers398122885
Maprs398122885
PheGenIrs398122885
hapmaprs398122885
1000 genomesrs398122885
hgdprs398122885
ensemblrs398122885
gopubmedrs398122885
geneviewrs398122885
scholarrs398122885
googlers398122885
pharmgkbrs398122885
gwascentralrs398122885
openSNPrs398122885
23andMers398122885
23andMe allrs398122885
SNP Nexus

SNPshotrs398122885
SNPdbers398122885
MSV3drs398122885
GWAS Ctlgrs398122885
Max Magnitude0
ClinVar
Risk rs398122885(A;A)
Alt rs398122885(A;A)
Reference rs398122885(C;C)
Significance Pathogenic
Disease Loeys-Dietz syndrome 4
Variation info
Gene TGFB2
CLNDBN Loeys-Dietz syndrome 4
Reversed 0
HGVS NC_000001.10:g.218607723C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030735.26,