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rs119470016

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119470016(C;T)
Make rs119470016(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position150374288
GeneTCOF1
is asnp
is mentioned by
dbSNPrs119470016
ebirs119470016
HLIrs119470016
Exacrs119470016
Varsomers119470016
Maprs119470016
PheGenIrs119470016
hapmaprs119470016
1000 genomesrs119470016
hgdprs119470016
ensemblrs119470016
gopubmedrs119470016
geneviewrs119470016
scholarrs119470016
googlers119470016
pharmgkbrs119470016
gwascentralrs119470016
openSNPrs119470016
23andMers119470016
23andMe allrs119470016
SNP Nexus

SNPshotrs119470016
SNPdbers119470016
MSV3drs119470016
GWAS Ctlgrs119470016
Max Magnitude0
OMIM606847
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119470016(T;T)
Alt rs119470016(T;T)
Reference rs119470016(C;C)
Significance Pathogenic
Disease Treacher collins syndrome 1
Variation info
Gene TCOF1
CLNDBN Treacher collins syndrome 1
Reversed 0
HGVS NC_000005.9:g.149753851C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004166.3,