rs397514040

Orientation

plus

Stabilized

plus

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

Make rs397514040(-;-)

Make rs397514040(-;TT)

Reference

GRCh38 38.1/141

Chromosome

6

Position

7583353

Gene

DSP

is a	snp
is	mentioned by
dbSNP	rs397514040
dbSNP (classic)	rs397514040
ClinGen	rs397514040
ebi	rs397514040
HLI	rs397514040
Exac	rs397514040
Gnomad	rs397514040
Varsome	rs397514040
LitVar	rs397514040
Map	rs397514040
PheGenI	rs397514040
Biobank	rs397514040
1000 genomes	rs397514040
hgdp	rs397514040
ensembl	rs397514040
geneview	rs397514040
scholar	rs397514040
google	rs397514040
pharmgkb	rs397514040
gwascentral	rs397514040
openSNP	rs397514040
23andMe	rs397514040
SNPshot	rs397514040
SNPdbe	rs397514040
MSV3d	rs397514040
GWAS Ctlg	rs397514040

Max Magnitude

0

ClinVar
Risk	rs397514040(-;-)
Alt	rs397514040(-;-)
Reference	Rs397514040(TT;TT)
Significance	Pathogenic
Disease	Epidermolysis bullosa
Variation	info
Gene	DSP
CLNDBN	Epidermolysis bullosa, lethal acantholytic
Reversed	0
HGVS	NC_000006.11:g.7583586_7583587delTT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018338.25,