rs121912996

Orientation

plus

Stabilized

plus

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

Make rs121912996(C;T)

Make rs121912996(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

7583062

Gene

DSP

is a	snp
is	mentioned by
dbSNP	rs121912996
dbSNP (classic)	rs121912996
ClinGen	rs121912996
ebi	rs121912996
HLI	rs121912996
Exac	rs121912996
Gnomad	rs121912996
Varsome	rs121912996
LitVar	rs121912996
Map	rs121912996
PheGenI	rs121912996
Biobank	rs121912996
1000 genomes	rs121912996
hgdp	rs121912996
ensembl	rs121912996
geneview	rs121912996
scholar	rs121912996
google	rs121912996
pharmgkb	rs121912996
gwascentral	rs121912996
openSNP	rs121912996
23andMe	rs121912996
SNPshot	rs121912996
SNPdbe	rs121912996
MSV3d	rs121912996
GWAS Ctlg	rs121912996

Max Magnitude

0

OMIM	125647
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121912996(A;A) rs121912996(T;T)
Alt	rs121912996(A;A) rs121912996(T;T)
Reference	Rs121912996(C;C)
Significance	Pathogenic
Disease	Epidermolysis bullosa
Variation	info
Gene	DSP
CLNDBN	Epidermolysis bullosa, lethal acantholytic
Reversed	0
HGVS	NC_000006.11:g.7583295C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018337.30,