rs797045084

Orientation

minus

Stabilized

minus

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

Make rs797045084(-;-)

Make rs797045084(-;TTTCAGAGGGGT)

Reference

GRCh38.p2 38.2/147

Chromosome

10

Position

104043576

Gene

COL17A1

is a	snp
is	mentioned by
dbSNP	rs797045084
dbSNP (classic)	rs797045084
ClinGen	rs797045084
ebi	rs797045084
HLI	rs797045084
Exac	rs797045084
Gnomad	rs797045084
Varsome	rs797045084
LitVar	rs797045084
Map	rs797045084
PheGenI	rs797045084
Biobank	rs797045084
1000 genomes	rs797045084
hgdp	rs797045084
ensembl	rs797045084
geneview	rs797045084
scholar	rs797045084
google	rs797045084
pharmgkb	rs797045084
gwascentral	rs797045084
openSNP	rs797045084
23andMe	rs797045084
SNPshot	rs797045084
SNPdbe	rs797045084
MSV3d	rs797045084
GWAS Ctlg	rs797045084

Max Magnitude

0

ClinVar
Risk	rs797045084(-;-)
Alt	rs797045084(-;-)
Reference	Rs797045084(TTTCAGAGGGGT;TTTCAGAGGGGT)
Significance	Probable-Pathogenic
Disease	Adult junctional epidermolysis bullosa
Variation	info
Gene	COL17A1
CLNDBN	Adult junctional epidermolysis bullosa
Reversed	1
HGVS	NC_000010.10:g.105803334_105803345delACCCCTCTGAAA
CLNSRC
CLNACC	RCV000190573.1,