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rs387907076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907076(A;A)
Make rs387907076(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position3643912
GeneCOLEC11
is asnp
is mentioned by
dbSNPrs387907076
ebirs387907076
HLIrs387907076
Exacrs387907076
Varsomers387907076
Maprs387907076
PheGenIrs387907076
hapmaprs387907076
1000 genomesrs387907076
hgdprs387907076
ensemblrs387907076
gopubmedrs387907076
geneviewrs387907076
scholarrs387907076
googlers387907076
pharmgkbrs387907076
gwascentralrs387907076
openSNPrs387907076
23andMers387907076
23andMe allrs387907076
SNP Nexus

SNPshotrs387907076
SNPdbers387907076
MSV3drs387907076
GWAS Ctlgrs387907076
Max Magnitude0
ClinVar
Risk rs387907076(A;A)
Alt rs387907076(A;A)
Reference rs387907076(G;G)
Significance Pathogenic
Disease Carnevale syndrome
Variation info
Gene COLEC11
CLNDBN Carnevale syndrome
Reversed 0
HGVS NC_000002.11:g.3691502G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023961.2,