rs483352917

Orientation

minus

Stabilized

minus

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

Make rs483352917(G;T)

Make rs483352917(T;T)

Reference

GRCh38 38.1/142

Chromosome

11

Position

6633009

Gene

DCHS1

is a	snp
is	mentioned by
dbSNP	rs483352917
dbSNP (classic)	rs483352917
ClinGen	rs483352917
ebi	rs483352917
HLI	rs483352917
Exac	rs483352917
Gnomad	rs483352917
Varsome	rs483352917
LitVar	rs483352917
Map	rs483352917
PheGenI	rs483352917
Biobank	rs483352917
1000 genomes	rs483352917
hgdp	rs483352917
ensembl	rs483352917
geneview	rs483352917
scholar	rs483352917
google	rs483352917
pharmgkb	rs483352917
gwascentral	rs483352917
openSNP	rs483352917
23andMe	rs483352917
SNPshot	rs483352917
SNPdbe	rs483352917
MSV3d	rs483352917
GWAS Ctlg	rs483352917

Max Magnitude

0

ClinVar
Risk	rs483352917(T;T)
Alt	rs483352917(T;T)
Reference	Rs483352917(G;G)
Significance	Pathogenic
Disease	Van Maldergem syndrome 1
Variation	info
Gene	DCHS1
CLNDBN	Van Maldergem syndrome 1
Reversed	1
HGVS	NC_000011.9:g.6654240C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000074481.4,