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rs786204846

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204846(A;C)
Make rs786204846(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position118728586
GeneSEC24D
is asnp
is mentioned by
dbSNPrs786204846
ebirs786204846
HLIrs786204846
Exacrs786204846
Varsomers786204846
Maprs786204846
PheGenIrs786204846
hapmaprs786204846
1000 genomesrs786204846
hgdprs786204846
ensemblrs786204846
gopubmedrs786204846
geneviewrs786204846
scholarrs786204846
googlers786204846
pharmgkbrs786204846
gwascentralrs786204846
openSNPrs786204846
23andMers786204846
23andMe allrs786204846
SNP Nexus

SNPshotrs786204846
SNPdbers786204846
MSV3drs786204846
GWAS Ctlgrs786204846
Max Magnitude0
ClinVar
Risk rs786204846(C;C)
Alt rs786204846(C;C)
Reference rs786204846(A;A)
Significance Pathogenic
Disease Cole-carpenter syndrome 2
Variation info
Gene SEC24D
CLNDBN Cole-carpenter syndrome 2
Reversed 1
HGVS NC_000004.11:g.119649741T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000169757.3,