rs730880023

Orientation

plus

Stabilized

plus

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

Make rs730880023(-;-)

Make rs730880023(-;TAAGG)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

7577039

Gene

DSP

is a	snp
is	mentioned by
dbSNP	rs730880023
dbSNP (classic)	rs730880023
ClinGen	rs730880023
ebi	rs730880023
HLI	rs730880023
Exac	rs730880023
Gnomad	rs730880023
Varsome	rs730880023
LitVar	rs730880023
Map	rs730880023
PheGenI	rs730880023
Biobank	rs730880023
1000 genomes	rs730880023
hgdp	rs730880023
ensembl	rs730880023
geneview	rs730880023
scholar	rs730880023
google	rs730880023
pharmgkb	rs730880023
gwascentral	rs730880023
openSNP	rs730880023
23andMe	rs730880023
SNPshot	rs730880023
SNPdbe	rs730880023
MSV3d	rs730880023
GWAS Ctlg	rs730880023

Max Magnitude

0

ClinVar
Risk	rs730880023(-;-)
Alt	rs730880023(-;-)
Reference	Rs730880023(TAAGG;TAAGG)
Significance	Pathogenic
Disease	Epidermolysis bullosa
Variation	info
Gene	DSP
CLNDBN	Epidermolysis bullosa, lethal acantholytic
Reversed	0
HGVS	NC_000006.11:g.7577272_7577276delTAAGG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000157032.2,