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rs797046037

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs797046037(-;-)
Make rs797046037(-;CA)
Make rs797046037(CA;CA)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position150368723
GeneTCOF1
is asnp
is mentioned by
dbSNPrs797046037
dbSNP (old)rs797046037
ClinGenrs797046037
ebirs797046037
HLIrs797046037
Exacrs797046037
Varsomers797046037
Maprs797046037
PheGenIrs797046037
Biobankrs797046037
1000 genomesrs797046037
hgdprs797046037
ensemblrs797046037
gopubmedrs797046037
geneviewrs797046037
scholarrs797046037
googlers797046037
pharmgkbrs797046037
gwascentralrs797046037
openSNPrs797046037
23andMers797046037
23andMe allrs797046037
SNP Nexus

SNPshotrs797046037
SNPdbers797046037
MSV3drs797046037
GWAS Ctlgrs797046037
Max Magnitude0
ClinVar
Risk rs797046037(-;-)
Alt rs797046037(-;-)
Reference Rs797046037(AC;AC)
Significance Pathogenic
Disease Treacher Collins syndrome 1
Variation info
Gene TCOF1
CLNDBN Treacher Collins syndrome 1
Reversed 0
HGVS NC_000005.9:g.149748286_149748287delCA
CLNSRC
CLNACC RCV000192389.1,