rs121912842

Orientation

minus

Stabilized

minus

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

Make rs121912842(A;A)

Make rs121912842(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48575502

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs121912842
dbSNP (classic)	rs121912842
ClinGen	rs121912842
ebi	rs121912842
HLI	rs121912842
Exac	rs121912842
Gnomad	rs121912842
Varsome	rs121912842
LitVar	rs121912842
Map	rs121912842
PheGenI	rs121912842
Biobank	rs121912842
1000 genomes	rs121912842
hgdp	rs121912842
ensembl	rs121912842
geneview	rs121912842
scholar	rs121912842
google	rs121912842
pharmgkb	rs121912842
gwascentral	rs121912842
openSNP	rs121912842
23andMe	rs121912842
SNPshot	rs121912842
SNPdbe	rs121912842
MSV3d	rs121912842
GWAS Ctlg	rs121912842

Max Magnitude

0

OMIM	120120
Desc
Variant	0026
Related	also

ClinVar
Risk	rs121912842(A;A)
Alt	rs121912842(A;A)
Reference	Rs121912842(G;G)
Significance	Pathogenic
Disease	Generalized dominant dystrophic epidermolysis bullosa
Variation	info
Gene	COL7A1
CLNDBN	Generalized dominant dystrophic epidermolysis bullosa
Reversed	1
HGVS	NC_000003.11:g.48612935C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018999.24,

[PMID 9856844] Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.