rs147040026

Orientation

plus

Stabilized

plus

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

Make rs147040026(C;T)

Make rs147040026(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

48591738

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs147040026
dbSNP (classic)	rs147040026
ClinGen	rs147040026
ebi	rs147040026
HLI	rs147040026
Exac	rs147040026
Gnomad	rs147040026
Varsome	rs147040026
LitVar	rs147040026
Map	rs147040026
PheGenI	rs147040026
Biobank	rs147040026
1000 genomes	rs147040026
hgdp	rs147040026
ensembl	rs147040026
geneview	rs147040026
scholar	rs147040026
google	rs147040026
pharmgkb	rs147040026
gwascentral	rs147040026
openSNP	rs147040026
23andMe	rs147040026
SNPshot	rs147040026
SNPdbe	rs147040026
MSV3d	rs147040026
GWAS Ctlg	rs147040026

Max Magnitude

0

ClinVar
Risk	rs147040026(T;T)
Alt	rs147040026(T;T)
Reference	Rs147040026(C;C)
Significance	Probable-Pathogenic
Disease	Abnormality of the thyroid gland Congenital bullous ichthyosiform erythroderma Epidermal nevus Ichthyosis
Variation	info
Gene	COL7A1
CLNDBN	Abnormality of the thyroid gland Congenital bullous ichthyosiform erythroderma Epidermal nevus Ichthyosis
Reversed	0
HGVS	NC_000003.11:g.48629171C>T
CLNSRC
CLNACC	RCV000415424.1,