rs121912770

Orientation

minus

Stabilized

minus

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

Make rs121912770(C;T)

Make rs121912770(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

104038409

Gene

COL17A1

is a	snp
is	mentioned by
dbSNP	rs121912770
dbSNP (classic)	rs121912770
ClinGen	rs121912770
ebi	rs121912770
HLI	rs121912770
Exac	rs121912770
Gnomad	rs121912770
Varsome	rs121912770
LitVar	rs121912770
Map	rs121912770
PheGenI	rs121912770
Biobank	rs121912770
1000 genomes	rs121912770
hgdp	rs121912770
ensembl	rs121912770
geneview	rs121912770
scholar	rs121912770
google	rs121912770
pharmgkb	rs121912770
gwascentral	rs121912770
openSNP	rs121912770
23andMe	rs121912770
SNPshot	rs121912770
SNPdbe	rs121912770
MSV3d	rs121912770
GWAS Ctlg	rs121912770

Max Magnitude

0

OMIM	113811
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121912770(T;T)
Alt	rs121912770(T;T)
Reference	Rs121912770(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.105798167G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019216.24,