rs483352919

Orientation

minus

Stabilized

minus

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

Make rs483352919(A;G)

Make rs483352919(G;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

6625235

Gene

DCHS1

is a	snp
is	mentioned by
dbSNP	rs483352919
dbSNP (classic)	rs483352919
ClinGen	rs483352919
ebi	rs483352919
HLI	rs483352919
Exac	rs483352919
Gnomad	rs483352919
Varsome	rs483352919
LitVar	rs483352919
Map	rs483352919
PheGenI	rs483352919
Biobank	rs483352919
1000 genomes	rs483352919
hgdp	rs483352919
ensembl	rs483352919
geneview	rs483352919
scholar	rs483352919
google	rs483352919
pharmgkb	rs483352919
gwascentral	rs483352919
openSNP	rs483352919
23andMe	rs483352919
SNPshot	rs483352919
SNPdbe	rs483352919
MSV3d	rs483352919
GWAS Ctlg	rs483352919

Max Magnitude

0

ClinVar
Risk	rs483352919(G;G) rs483352919(T;T)
Alt	rs483352919(G;G) rs483352919(T;T)
Reference	Rs483352919(A;A)
Significance	Pathogenic
Disease	Van Maldergem syndrome 1
Variation	info
Gene	DCHS1
CLNDBN	Van Maldergem syndrome 1
Reversed	1
HGVS	NC_000011.9:g.6646466T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000074483.5,