rs805708

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0
(G;G)	0	common in clinvar

Make rs805708(A;G)

Reference

GRCh38 38.1/142

Chromosome

10

Position

104064575

Gene

COL17A1

is a	snp
is	mentioned by
dbSNP	rs805708
dbSNP (classic)	rs805708
ClinGen	rs805708
ebi	rs805708
HLI	rs805708
Exac	rs805708
Gnomad	rs805708
Varsome	rs805708
LitVar	rs805708
Map	rs805708
PheGenI	rs805708
Biobank	rs805708
1000 genomes	rs805708
hgdp	rs805708
ensembl	rs805708
geneview	rs805708
scholar	rs805708
google	rs805708
pharmgkb	rs805708
gwascentral	rs805708
openSNP	rs805708
23andMe	rs805708
SNPshot	rs805708
SNPdbe	rs805708
MSV3d	rs805708
GWAS Ctlg	rs805708

GMAF

0.3994

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	Rs805708(A;A)
Alt	Rs805708(A;A)
Reference	Rs805708(G;G)
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.105824333G>A
CLNSRC
CLNACC	RCV000252360.1, RCV000264886.1,