rs483352918

Orientation

minus

Stabilized

minus

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

Make rs483352918(-;-)

Make rs483352918(-;C)

Reference

GRCh38 38.1/142

Chromosome

11

Position

6632969

Gene

DCHS1

is a	snp
is	mentioned by
dbSNP	rs483352918
dbSNP (classic)	rs483352918
ClinGen	rs483352918
ebi	rs483352918
HLI	rs483352918
Exac	rs483352918
Gnomad	rs483352918
Varsome	rs483352918
LitVar	rs483352918
Map	rs483352918
PheGenI	rs483352918
Biobank	rs483352918
1000 genomes	rs483352918
hgdp	rs483352918
ensembl	rs483352918
geneview	rs483352918
scholar	rs483352918
google	rs483352918
pharmgkb	rs483352918
gwascentral	rs483352918
openSNP	rs483352918
23andMe	rs483352918
SNPshot	rs483352918
SNPdbe	rs483352918
MSV3d	rs483352918
GWAS Ctlg	rs483352918

Max Magnitude

0

ClinVar
Risk	rs483352918(-;-)
Alt	rs483352918(-;-)
Reference	Rs483352918(C;C)
Significance	Pathogenic
Disease	Van Maldergem syndrome 1
Variation	info
Gene	DCHS1
CLNDBN	Van Maldergem syndrome 1
Reversed	1
HGVS	NC_000011.9:g.6654200delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000074482.4,