rs121912774

Orientation

minus

Stabilized

minus

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

Make rs121912774(C;T)

Make rs121912774(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

104072062

Gene

COL17A1

is a	snp
is	mentioned by
dbSNP	rs121912774
dbSNP (classic)	rs121912774
ClinGen	rs121912774
ebi	rs121912774
HLI	rs121912774
Exac	rs121912774
Gnomad	rs121912774
Varsome	rs121912774
LitVar	rs121912774
Map	rs121912774
PheGenI	rs121912774
Biobank	rs121912774
1000 genomes	rs121912774
hgdp	rs121912774
ensembl	rs121912774
geneview	rs121912774
scholar	rs121912774
google	rs121912774
pharmgkb	rs121912774
gwascentral	rs121912774
openSNP	rs121912774
23andMe	rs121912774
SNPshot	rs121912774
SNPdbe	rs121912774
MSV3d	rs121912774
GWAS Ctlg	rs121912774

Max Magnitude

0

OMIM	113811
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121912774(T;T)
Alt	rs121912774(T;T)
Reference	Rs121912774(C;C)
Significance	Pathogenic
Disease	Adult junctional epidermolysis bullosa
Variation	info
Gene	COL17A1
CLNDBN	Adult junctional epidermolysis bullosa
Reversed	1
HGVS	NC_000010.10:g.105831820G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019226.30,