rs805722

Orientation

plus

Stabilized

plus

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

Make rs805722(C;T)

Reference

GRCh38 38.1/142

Chromosome

10

Position

104050642

Gene

COL17A1

is a	snp
is	mentioned by
dbSNP	rs805722
dbSNP (classic)	rs805722
ClinGen	rs805722
ebi	rs805722
HLI	rs805722
Exac	rs805722
Gnomad	rs805722
Varsome	rs805722
LitVar	rs805722
Map	rs805722
PheGenI	rs805722
Biobank	rs805722
1000 genomes	rs805722
hgdp	rs805722
ensembl	rs805722
geneview	rs805722
scholar	rs805722
google	rs805722
pharmgkb	rs805722
gwascentral	rs805722
openSNP	rs805722
23andMe	rs805722
SNPshot	rs805722
SNPdbe	rs805722
MSV3d	rs805722
GWAS Ctlg	rs805722

GMAF

0.2755

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	Rs805722(C;C)
Alt	Rs805722(C;C)
Reference	Rs805722(T;T)
Significance	Non-pathogenic
Disease	not specified Epidermolysis bullosa
Variation	info
Gene	COL17A1
CLNDBN	not specified Epidermolysis bullosa, junctional
Reversed	0
HGVS	NC_000010.10:g.105810400T>C
CLNSRC
CLNACC	RCV000249875.1, RCV000390866.1,