rs121912843

Orientation

minus

Stabilized

minus

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

Make rs121912843(A;A)

Make rs121912843(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48575475

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs121912843
dbSNP (classic)	rs121912843
ClinGen	rs121912843
ebi	rs121912843
HLI	rs121912843
Exac	rs121912843
Gnomad	rs121912843
Varsome	rs121912843
LitVar	rs121912843
Map	rs121912843
PheGenI	rs121912843
Biobank	rs121912843
1000 genomes	rs121912843
hgdp	rs121912843
ensembl	rs121912843
geneview	rs121912843
scholar	rs121912843
google	rs121912843
pharmgkb	rs121912843
gwascentral	rs121912843
openSNP	rs121912843
23andMe	rs121912843
SNPshot	rs121912843
SNPdbe	rs121912843
MSV3d	rs121912843
GWAS Ctlg	rs121912843

Max Magnitude

0

OMIM	120120
Desc
Variant	0027
Related	also

ClinVar
Risk	rs121912843(A;A)
Alt	rs121912843(A;A)
Reference	Rs121912843(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.48612908C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019000.28,

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