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rs760670617

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs760670617(C;C)
Make rs760670617(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position118723570
GeneSEC24D
is asnp
is mentioned by
dbSNPrs760670617
ebirs760670617
HLIrs760670617
Exacrs760670617
Varsomers760670617
Maprs760670617
PheGenIrs760670617
hapmaprs760670617
1000 genomesrs760670617
hgdprs760670617
ensemblrs760670617
gopubmedrs760670617
geneviewrs760670617
scholarrs760670617
googlers760670617
pharmgkbrs760670617
gwascentralrs760670617
openSNPrs760670617
23andMers760670617
23andMe allrs760670617
SNP Nexus

SNPshotrs760670617
SNPdbers760670617
MSV3drs760670617
GWAS Ctlgrs760670617
Max Magnitude0
ClinVar
Risk rs760670617(A;A) rs760670617(C;C)
Alt rs760670617(A;A) rs760670617(C;C)
Reference Rs760670617(G;G)
Significance Pathogenic
Disease Cole-Carpenter syndrome 2
Variation info
Gene SEC24D
CLNDBN Cole-Carpenter syndrome 2
Reversed 0
HGVS NC_000004.11:g.119644725G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000169755.3,