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rs149010496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs149010496(C;T)
Make rs149010496(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position119067306
GeneCOLEC10, LOC101927513
is asnp
is mentioned by
dbSNPrs149010496
dbSNP (classic)rs149010496
ClinGenrs149010496
ebirs149010496
HLIrs149010496
Exacrs149010496
Gnomadrs149010496
Varsomers149010496
LitVarrs149010496
Maprs149010496
PheGenIrs149010496
Biobankrs149010496
1000 genomesrs149010496
hgdprs149010496
ensemblrs149010496
geneviewrs149010496
scholarrs149010496
googlers149010496
pharmgkbrs149010496
gwascentralrs149010496
openSNPrs149010496
23andMers149010496
SNPshotrs149010496
SNPdbers149010496
MSV3drs149010496
GWAS Ctlgrs149010496
Max Magnitude0
ClinVar
Risk rs149010496(T;T)
Alt rs149010496(T;T)
Reference Rs149010496(C;C)
Significance Pathogenic
Disease Malpuech facial clefting syndrome
Variation info
Gene LOC101927513 COLEC10
CLNDBN Malpuech facial clefting syndrome
Reversed 0
HGVS NC_000008.10:g.120079545C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000477687.1,