rs752317971

Orientation

plus

Stabilized

plus

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

Make rs752317971(A;A)

Make rs752317971(A;C)

Reference

GRCh38.p7 38.3/149

Chromosome

10

Position

104043852

Gene

COL17A1

is a	snp
is	mentioned by
dbSNP	rs752317971
dbSNP (classic)	rs752317971
ClinGen	rs752317971
ebi	rs752317971
HLI	rs752317971
Exac	rs752317971
Gnomad	rs752317971
Varsome	rs752317971
LitVar	rs752317971
Map	rs752317971
PheGenI	rs752317971
Biobank	rs752317971
1000 genomes	rs752317971
hgdp	rs752317971
ensembl	rs752317971
geneview	rs752317971
scholar	rs752317971
google	rs752317971
pharmgkb	rs752317971
gwascentral	rs752317971
openSNP	rs752317971
23andMe	rs752317971
SNPshot	rs752317971
SNPdbe	rs752317971
MSV3d	rs752317971
GWAS Ctlg	rs752317971

Max Magnitude

0

ClinVar
Risk	rs752317971(A;A) rs752317971(G;G)
Alt	rs752317971(A;A) rs752317971(G;G)
Reference	Rs752317971(C;C)
Significance	Pathogenic
Disease	Epidermolysis bullosa not provided
Variation	info
Gene	COL17A1
CLNDBN	Epidermolysis bullosa, junctional not provided
Reversed	0
HGVS	NC_000010.10:g.105803610C>A
CLNSRC	Illumina
CLNACC	RCV000376543.1, RCV000493431.1,