rs121912837

Orientation

minus

Stabilized

minus

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

Make rs121912837(A;A)

Make rs121912837(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48573047

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs121912837
dbSNP (classic)	rs121912837
ClinGen	rs121912837
ebi	rs121912837
HLI	rs121912837
Exac	rs121912837
Gnomad	rs121912837
Varsome	rs121912837
LitVar	rs121912837
Map	rs121912837
PheGenI	rs121912837
Biobank	rs121912837
1000 genomes	rs121912837
hgdp	rs121912837
ensembl	rs121912837
geneview	rs121912837
scholar	rs121912837
google	rs121912837
pharmgkb	rs121912837
gwascentral	rs121912837
openSNP	rs121912837
23andMe	rs121912837
SNPshot	rs121912837
SNPdbe	rs121912837
MSV3d	rs121912837
GWAS Ctlg	rs121912837

Max Magnitude

0

OMIM	120120
Desc
Variant	0017
Related	also

ClinVar
Risk	rs121912837(A;A) rs121912837(C;C)
Alt	rs121912837(A;A) rs121912837(C;C)
Reference	Rs121912837(G;G)
Significance	Pathogenic
Disease	Inborn genetic diseases Epidermolysis bullosa pruriginosa
Variation	info
Gene	COL7A1
CLNDBN	Inborn genetic diseases Epidermolysis bullosa pruriginosa, autosomal dominant
Reversed	1
HGVS	NC_000003.11:g.48610480C>G; NC_000003.11:g.48610480C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000190693.1, RCV000018989.28,