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rs121909068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909068(A;G)
Make rs121909068(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position3457572
GeneTGIF1
is asnp
is mentioned by
dbSNPrs121909068
dbSNP (classic)rs121909068
ClinGenrs121909068
ebirs121909068
HLIrs121909068
Exacrs121909068
Gnomadrs121909068
Varsomers121909068
LitVarrs121909068
Maprs121909068
PheGenIrs121909068
Biobankrs121909068
1000 genomesrs121909068
hgdprs121909068
ensemblrs121909068
geneviewrs121909068
scholarrs121909068
googlers121909068
pharmgkbrs121909068
gwascentralrs121909068
openSNPrs121909068
23andMers121909068
SNPshotrs121909068
SNPdbers121909068
MSV3drs121909068
GWAS Ctlgrs121909068
Max Magnitude0
OMIM602630
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909068(G;G)
Alt rs121909068(G;G)
Reference Rs121909068(A;A)
Significance Pathogenic
Disease Holoprosencephaly 4
Variation info
Gene TGIF1
CLNDBN Holoprosencephaly 4
Reversed 0
HGVS NC_000018.9:g.3457570A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007396.3,