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rs119470017

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119470017(C;T)
Make rs119470017(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position150388004
GeneTCOF1
is asnp
is mentioned by
dbSNPrs119470017
ebirs119470017
HLIrs119470017
Exacrs119470017
Varsomers119470017
Maprs119470017
PheGenIrs119470017
hapmaprs119470017
1000 genomesrs119470017
hgdprs119470017
ensemblrs119470017
gopubmedrs119470017
geneviewrs119470017
scholarrs119470017
googlers119470017
pharmgkbrs119470017
gwascentralrs119470017
openSNPrs119470017
23andMers119470017
23andMe allrs119470017
SNP Nexus

SNPshotrs119470017
SNPdbers119470017
MSV3drs119470017
GWAS Ctlgrs119470017
Max Magnitude0
OMIM606847
Desc
Variant0007
Relatedalso
ClinVar
Risk rs119470017(T;T)
Alt rs119470017(T;T)
Reference rs119470017(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.149767567C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004172.3,