rs786204845

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs786204845(C;T)

Make rs786204845(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

4

Position

118815511

Gene

SEC24D

is a	snp
is	mentioned by
dbSNP	rs786204845
dbSNP (classic)	rs786204845
ClinGen	rs786204845
ebi	rs786204845
HLI	rs786204845
Exac	rs786204845
Gnomad	rs786204845
Varsome	rs786204845
LitVar	rs786204845
Map	rs786204845
PheGenI	rs786204845
Biobank	rs786204845
1000 genomes	rs786204845
hgdp	rs786204845
ensembl	rs786204845
geneview	rs786204845
scholar	rs786204845
google	rs786204845
pharmgkb	rs786204845
gwascentral	rs786204845
openSNP	rs786204845
23andMe	rs786204845
SNPshot	rs786204845
SNPdbe	rs786204845
MSV3d	rs786204845
GWAS Ctlg	rs786204845

Max Magnitude

0

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,