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rs28939693

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28939693(A;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position3457441
GeneTGIF1
is asnp
is mentioned by
dbSNPrs28939693
dbSNP (classic)rs28939693
ClinGenrs28939693
ebirs28939693
HLIrs28939693
Exacrs28939693
Gnomadrs28939693
Varsomers28939693
LitVarrs28939693
Maprs28939693
PheGenIrs28939693
Biobankrs28939693
1000 genomesrs28939693
hgdprs28939693
ensemblrs28939693
geneviewrs28939693
scholarrs28939693
googlers28939693
pharmgkbrs28939693
gwascentralrs28939693
openSNPrs28939693
23andMers28939693
SNPshotrs28939693
SNPdbers28939693
MSV3drs28939693
GWAS Ctlgrs28939693
Max Magnitude0
OMIM602630
DescHOLOPROSENCEPHALY 4
Variant0006
Relatedalso


ClinVar
Risk rs28939693(G;G) Rs28939693(T;T)
Alt rs28939693(G;G) Rs28939693(T;T)
Reference Rs28939693(A;A)
Significance Pathogenic
Disease Holoprosencephaly 4 not specified
Variation info
Gene TGIF1
CLNDBN Holoprosencephaly 4 not specified
Reversed 0
HGVS NC_000018.9:g.3457439A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007399.3, RCV000439563.1,