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rs387907075

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907075(C;C)
Make rs387907075(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position3643807
GeneCOLEC11
is asnp
is mentioned by
dbSNPrs387907075
ebirs387907075
HLIrs387907075
Exacrs387907075
Varsomers387907075
Maprs387907075
PheGenIrs387907075
hapmaprs387907075
1000 genomesrs387907075
hgdprs387907075
ensemblrs387907075
gopubmedrs387907075
geneviewrs387907075
scholarrs387907075
googlers387907075
pharmgkbrs387907075
gwascentralrs387907075
openSNPrs387907075
23andMers387907075
23andMe allrs387907075
SNP Nexus

SNPshotrs387907075
SNPdbers387907075
MSV3drs387907075
GWAS Ctlgrs387907075
Max Magnitude0
ClinVar
Risk rs387907075(C;C)
Alt rs387907075(C;C)
Reference rs387907075(T;T)
Significance Pathogenic
Disease Carnevale syndrome
Variation info
Gene COLEC11
CLNDBN Carnevale syndrome
Reversed 0
HGVS NC_000002.11:g.3691397T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023959.2,