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rs991967

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs991967(A;C)
Make rs991967(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position218442109
GeneTGFB2, TGFB2-OT1
is asnp
is mentioned by
dbSNPrs991967
dbSNP (old)rs991967
ClinGenrs991967
ebirs991967
HLIrs991967
Exacrs991967
Varsomers991967
Maprs991967
PheGenIrs991967
Biobankrs991967
1000 genomesrs991967
hgdprs991967
ensemblrs991967
gopubmedrs991967
geneviewrs991967
scholarrs991967
googlers991967
pharmgkbrs991967
gwascentralrs991967
openSNPrs991967
23andMers991967
23andMe allrs991967
SNP Nexus

SNPshotrs991967
SNPdbers991967
MSV3drs991967
GWAS Ctlgrs991967
GMAF0.4826
Max Magnitude0
? (A;A) (A;C) (C;C) 28
[PMID 19710942OA-icon.png] Sclera-related gene polymorphisms in high myopia


ClinVar
Risk rs991967(C;C)
Alt rs991967(C;C)
Reference Rs991967(A;A)
Significance Non-pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene TGFB2-OT1 TGFB2
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000001.10:g.218615451A>C
CLNSRC
CLNACC RCV000357212.1,