rs201045495

Orientation

plus

Stabilized

plus

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

Make rs201045495(A;A)

Make rs201045495(A;G)

Reference

GRCh38 38.1/142

Chromosome

6

Position

56620664

Gene

DST

is a	snp
is	mentioned by
dbSNP	rs201045495
dbSNP (classic)	rs201045495
ClinGen	rs201045495
ebi	rs201045495
HLI	rs201045495
Exac	rs201045495
Gnomad	rs201045495
Varsome	rs201045495
LitVar	rs201045495
Map	rs201045495
PheGenI	rs201045495
Biobank	rs201045495
1000 genomes	rs201045495
hgdp	rs201045495
ensembl	rs201045495
geneview	rs201045495
scholar	rs201045495
google	rs201045495
pharmgkb	rs201045495
gwascentral	rs201045495
openSNP	rs201045495
23andMe	rs201045495
SNPshot	rs201045495
SNPdbe	rs201045495
MSV3d	rs201045495
GWAS Ctlg	rs201045495

Max Magnitude

0

ClinVar
Risk	rs201045495(A;A)
Alt	rs201045495(A;A)
Reference	Rs201045495(G;G)
Significance	Pathogenic
Disease	Epidermolysis bullosa simplex not provided not specified
Variation	info
Gene	DST
CLNDBN	Epidermolysis bullosa simplex, autosomal recessive 2 not provided not specified
Reversed	0
HGVS	NC_000006.11:g.56485462G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000056254.27, RCV000437664.1, RCV000454900.1,