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rs201213306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201213306(A;A)
Make rs201213306(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position165752166
GeneTMCO1
is asnp
is mentioned by
dbSNPrs201213306
ebirs201213306
HLIrs201213306
Exacrs201213306
Varsomers201213306
Maprs201213306
PheGenIrs201213306
hapmaprs201213306
1000 genomesrs201213306
hgdprs201213306
ensemblrs201213306
gopubmedrs201213306
geneviewrs201213306
scholarrs201213306
googlers201213306
pharmgkbrs201213306
gwascentralrs201213306
openSNPrs201213306
23andMers201213306
23andMe allrs201213306
SNP Nexus

SNPshotrs201213306
SNPdbers201213306
MSV3drs201213306
GWAS Ctlgrs201213306
Max Magnitude0
ClinVar
Risk rs201213306(A;A)
Alt rs201213306(A;A)
Reference rs201213306(G;G)
Significance Pathogenic
Disease Craniofacial dysmorphism
Variation info
Gene TMCO1
CLNDBN Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Reversed 0
HGVS NC_000001.10:g.165721403G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074398.3,