rs121912838

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	3	Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation
(G;G)	0	common in clinvar

Make rs121912838(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48575428

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs121912838
dbSNP (classic)	rs121912838
ClinGen	rs121912838
ebi	rs121912838
HLI	rs121912838
Exac	rs121912838
Gnomad	rs121912838
Varsome	rs121912838
LitVar	rs121912838
Map	rs121912838
PheGenI	rs121912838
Biobank	rs121912838
1000 genomes	rs121912838
hgdp	rs121912838
ensembl	rs121912838
geneview	rs121912838
scholar	rs121912838
google	rs121912838
pharmgkb	rs121912838
gwascentral	rs121912838
openSNP	rs121912838
23andMe	rs121912838
SNPshot	rs121912838
SNPdbe	rs121912838
MSV3d	rs121912838
GWAS Ctlg	rs121912838

Max Magnitude

3

COL7A1 gene, c.6091G>A (p.Gly2031Ser)

23andMe name: i5004276

OMIM	120120
Desc
Variant	0022
Related	also

ClinVar
Risk	rs121912838(A;A)
Alt	rs121912838(A;A)
Reference	Rs121912838(G;G)
Significance	Pathogenic
Disease	Recessive dystrophic epidermolysis bullosa not provided
Variation	info
Gene	COL7A1
CLNDBN	Recessive dystrophic epidermolysis bullosa not provided
Reversed	1
HGVS	NC_000003.11:g.48612861C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018997.27, RCV000335209.1,