rs760670617

Orientation

plus

Stabilized

plus

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

Make rs760670617(C;C)

Make rs760670617(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

118723570

Gene

SEC24D

is a	snp
is	mentioned by
dbSNP	rs760670617
dbSNP (classic)	rs760670617
ClinGen	rs760670617
ebi	rs760670617
HLI	rs760670617
Exac	rs760670617
Gnomad	rs760670617
Varsome	rs760670617
LitVar	rs760670617
Map	rs760670617
PheGenI	rs760670617
Biobank	rs760670617
1000 genomes	rs760670617
hgdp	rs760670617
ensembl	rs760670617
geneview	rs760670617
scholar	rs760670617
google	rs760670617
pharmgkb	rs760670617
gwascentral	rs760670617
openSNP	rs760670617
23andMe	rs760670617
SNPshot	rs760670617
SNPdbe	rs760670617
MSV3d	rs760670617
GWAS Ctlg	rs760670617

Max Magnitude

0

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,