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rs786204845

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204845(C;T)
Make rs786204845(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position118815511
GeneSEC24D
is asnp
is mentioned by
dbSNPrs786204845
ebirs786204845
HLIrs786204845
Exacrs786204845
Varsomers786204845
Maprs786204845
PheGenIrs786204845
hapmaprs786204845
1000 genomesrs786204845
hgdprs786204845
ensemblrs786204845
gopubmedrs786204845
geneviewrs786204845
scholarrs786204845
googlers786204845
pharmgkbrs786204845
gwascentralrs786204845
openSNPrs786204845
23andMers786204845
23andMe allrs786204845
SNP Nexus

SNPshotrs786204845
SNPdbers786204845
MSV3drs786204845
GWAS Ctlgrs786204845
Max Magnitude0
ClinVar
Risk rs786204845(T;T)
Alt rs786204845(T;T)
Reference rs786204845(C;C)
Significance Pathogenic
Disease Cole-carpenter syndrome 2
Variation info
Gene SEC24D
CLNDBN Cole-carpenter syndrome 2
Reversed 1
HGVS NC_000004.11:g.119736666G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000169756.3,