rs121912773

Orientation

minus

Stabilized

minus

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

Make rs121912773(A;A)

Make rs121912773(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

104053072

Gene

COL17A1

is a	snp
is	mentioned by
dbSNP	rs121912773
dbSNP (classic)	rs121912773
ClinGen	rs121912773
ebi	rs121912773
HLI	rs121912773
Exac	rs121912773
Gnomad	rs121912773
Varsome	rs121912773
LitVar	rs121912773
Map	rs121912773
PheGenI	rs121912773
Biobank	rs121912773
1000 genomes	rs121912773
hgdp	rs121912773
ensembl	rs121912773
geneview	rs121912773
scholar	rs121912773
google	rs121912773
pharmgkb	rs121912773
gwascentral	rs121912773
openSNP	rs121912773
23andMe	rs121912773
SNPshot	rs121912773
SNPdbe	rs121912773
MSV3d	rs121912773
GWAS Ctlg	rs121912773

Max Magnitude

0

OMIM	113811
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121912773(A;A)
Alt	rs121912773(A;A)
Reference	Rs121912773(G;G)
Significance	Pathogenic
Disease	Adult junctional epidermolysis bullosa
Variation	info
Gene	COL17A1
CLNDBN	Adult junctional epidermolysis bullosa
Reversed	1
HGVS	NC_000010.10:g.105812830C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019225.28,