rs121912834

Orientation

minus

Stabilized

minus

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

Make rs121912834(A;A)

Make rs121912834(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48572941

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs121912834
dbSNP (classic)	rs121912834
ClinGen	rs121912834
ebi	rs121912834
HLI	rs121912834
Exac	rs121912834
Gnomad	rs121912834
Varsome	rs121912834
LitVar	rs121912834
Map	rs121912834
PheGenI	rs121912834
Biobank	rs121912834
1000 genomes	rs121912834
hgdp	rs121912834
ensembl	rs121912834
geneview	rs121912834
scholar	rs121912834
google	rs121912834
pharmgkb	rs121912834
gwascentral	rs121912834
openSNP	rs121912834
23andMe	rs121912834
SNPshot	rs121912834
SNPdbe	rs121912834
MSV3d	rs121912834
GWAS Ctlg	rs121912834

Max Magnitude

0

OMIM	120120
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121912834(A;A) rs121912834(C;C)
Alt	rs121912834(A;A) rs121912834(C;C)
Reference	Rs121912834(G;G)
Significance	Pathogenic
Disease	Transient bullous dermolysis of the newborn Nail disorder Epidermolysis bullosa pruriginosa
Variation	info
Gene	COL7A1
CLNDBN	Transient bullous dermolysis of the newborn Nail disorder, nonsyndromic congenital, 8 Epidermolysis bullosa pruriginosa, autosomal dominant
Reversed	1
HGVS	NC_000003.11:g.48610374C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018984.27, RCV000018985.23, RCV000018986.23,

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

[PMID 17434045] Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.