rs121912769

Orientation

minus

Stabilized

minus

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

Make rs121912769(C;T)

Make rs121912769(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

104034711

Gene

COL17A1

is a	snp
is	mentioned by
dbSNP	rs121912769
dbSNP (classic)	rs121912769
ClinGen	rs121912769
ebi	rs121912769
HLI	rs121912769
Exac	rs121912769
Gnomad	rs121912769
Varsome	rs121912769
LitVar	rs121912769
Map	rs121912769
PheGenI	rs121912769
Biobank	rs121912769
1000 genomes	rs121912769
hgdp	rs121912769
ensembl	rs121912769
geneview	rs121912769
scholar	rs121912769
google	rs121912769
pharmgkb	rs121912769
gwascentral	rs121912769
openSNP	rs121912769
23andMe	rs121912769
SNPshot	rs121912769
SNPdbe	rs121912769
MSV3d	rs121912769
GWAS Ctlg	rs121912769

Max Magnitude

0

OMIM	113811
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121912769(T;T)
Alt	rs121912769(T;T)
Reference	Rs121912769(C;C)
Significance	Pathogenic
Disease	Adult junctional epidermolysis bullosa Epidermolysis bullosa
Variation	info
Gene	COL17A1
CLNDBN	Adult junctional epidermolysis bullosa Epidermolysis bullosa, junctional, localisata variant
Reversed	1
HGVS	NC_000010.10:g.105794469G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019212.30, RCV000019213.30,