rs797045142

Orientation

minus

Stabilized

minus

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

Make rs797045142(C;T)

Make rs797045142(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

10

Position

104039613

Gene

COL17A1

is a	snp
is	mentioned by
dbSNP	rs797045142
dbSNP (classic)	rs797045142
ClinGen	rs797045142
ebi	rs797045142
HLI	rs797045142
Exac	rs797045142
Gnomad	rs797045142
Varsome	rs797045142
LitVar	rs797045142
Map	rs797045142
PheGenI	rs797045142
Biobank	rs797045142
1000 genomes	rs797045142
hgdp	rs797045142
ensembl	rs797045142
geneview	rs797045142
scholar	rs797045142
google	rs797045142
pharmgkb	rs797045142
gwascentral	rs797045142
openSNP	rs797045142
23andMe	rs797045142
SNPshot	rs797045142
SNPdbe	rs797045142
MSV3d	rs797045142
GWAS Ctlg	rs797045142

Max Magnitude

0

ClinVar
Risk	rs797045142(T;T)
Alt	rs797045142(T;T)
Reference	Rs797045142(C;C)
Significance	Pathogenic
Disease	Epithelial recurrent erosion dystrophy
Variation	info
Gene	COL17A1
CLNDBN	Epithelial recurrent erosion dystrophy
Reversed	1
HGVS	NC_000010.10:g.105799371G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000190896.3,