rs121912772

Orientation

minus

Stabilized

minus

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

Make rs121912772(G;G)

Make rs121912772(G;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

104041526

Gene

COL17A1

is a	snp
is	mentioned by
dbSNP	rs121912772
dbSNP (classic)	rs121912772
ClinGen	rs121912772
ebi	rs121912772
HLI	rs121912772
Exac	rs121912772
Gnomad	rs121912772
Varsome	rs121912772
LitVar	rs121912772
Map	rs121912772
PheGenI	rs121912772
Biobank	rs121912772
1000 genomes	rs121912772
hgdp	rs121912772
ensembl	rs121912772
geneview	rs121912772
scholar	rs121912772
google	rs121912772
pharmgkb	rs121912772
gwascentral	rs121912772
openSNP	rs121912772
23andMe	rs121912772
SNPshot	rs121912772
SNPdbe	rs121912772
MSV3d	rs121912772
GWAS Ctlg	rs121912772

Max Magnitude

0

OMIM	113811
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121912772(G;G)
Alt	rs121912772(G;G)
Reference	Rs121912772(T;T)
Significance	Pathogenic
Disease	Adult junctional epidermolysis bullosa
Variation	info
Gene	COL17A1
CLNDBN	Adult junctional epidermolysis bullosa
Reversed	1
HGVS	NC_000010.10:g.105801284A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019224.29,