rs397516694

Orientation

plus

Stabilized

plus

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

Make rs397516694(C;C)

Make rs397516694(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

219418842

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs397516694
dbSNP (classic)	rs397516694
ClinGen	rs397516694
ebi	rs397516694
HLI	rs397516694
Exac	rs397516694
Gnomad	rs397516694
Varsome	rs397516694
LitVar	rs397516694
Map	rs397516694
PheGenI	rs397516694
Biobank	rs397516694
1000 genomes	rs397516694
hgdp	rs397516694
ensembl	rs397516694
geneview	rs397516694
scholar	rs397516694
google	rs397516694
pharmgkb	rs397516694
gwascentral	rs397516694
openSNP	rs397516694
23andMe	rs397516694
SNPshot	rs397516694
SNPdbe	rs397516694
MSV3d	rs397516694
GWAS Ctlg	rs397516694

Max Magnitude

0

ClinVar
Risk	rs397516694(C;C)
Alt	rs397516694(C;C)
Reference	Rs397516694(G;G)
Significance	Probable-Pathogenic
Disease	not specified not provided
Variation	info
Gene	DES
CLNDBN	not specified not provided
Reversed	0
HGVS	NC_000002.11:g.220283564G>C
CLNSRC
CLNACC	RCV000037239.2, RCV000183371.1,