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rs397518448

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs397518448(-;-)
Make rs397518448(-;AG)
Make rs397518448(AG;AG)
ReferenceGRCh38 38.1/141
Chromosome1
Position165768765
GeneRP11-466F5.8, TMCO1
is asnp
is mentioned by
dbSNPrs397518448
ebirs397518448
HLIrs397518448
Exacrs397518448
Varsomers397518448
Maprs397518448
PheGenIrs397518448
hapmaprs397518448
1000 genomesrs397518448
hgdprs397518448
ensemblrs397518448
gopubmedrs397518448
geneviewrs397518448
scholarrs397518448
googlers397518448
pharmgkbrs397518448
gwascentralrs397518448
openSNPrs397518448
23andMers397518448
23andMe allrs397518448
SNP Nexus

SNPshotrs397518448
SNPdbers397518448
MSV3drs397518448
GWAS Ctlgrs397518448
Max Magnitude0
ClinVar
Risk rs397518448(;)
Alt rs397518448(;)
Reference rs397518448(GA;GA)
Significance Pathogenic
Disease Craniofacial dysmorphism
Variation info
Gene LOC100147773 RP11-466F5.8 TMCO1
CLNDBN Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Reversed 1
HGVS NC_000001.10:g.165738002_165738003delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000024096.4,