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rs28941769

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28941769(A;G)
Make rs28941769(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position150361196
GeneTCOF1
is asnp
is mentioned by
dbSNPrs28941769
ebirs28941769
HLIrs28941769
Exacrs28941769
Varsomers28941769
Maprs28941769
PheGenIrs28941769
hapmaprs28941769
1000 genomesrs28941769
hgdprs28941769
ensemblrs28941769
gopubmedrs28941769
geneviewrs28941769
scholarrs28941769
googlers28941769
pharmgkbrs28941769
gwascentralrs28941769
openSNPrs28941769
23andMers28941769
23andMe allrs28941769
SNP Nexus

SNPshotrs28941769
SNPdbers28941769
MSV3drs28941769
GWAS Ctlgrs28941769
Max Magnitude0
OMIM606847
DescTREACHER COLLINS SYNDROME
Variant0005
Relatedalso
ClinVar
Risk rs28941769(G;G)
Alt rs28941769(G;G)
Reference rs28941769(A;A)
Significance Pathogenic
Disease Treacher collins syndrome 1
Variation info
Gene TCOF1
CLNDBN Treacher collins syndrome 1
Reversed 0
HGVS NC_000005.9:g.149740759A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004170.3,