rs121912835

Orientation

minus

Stabilized

minus

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

Make rs121912835(A;A)

Make rs121912835(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48582616

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs121912835
dbSNP (classic)	rs121912835
ClinGen	rs121912835
ebi	rs121912835
HLI	rs121912835
Exac	rs121912835
Gnomad	rs121912835
Varsome	rs121912835
LitVar	rs121912835
Map	rs121912835
PheGenI	rs121912835
Biobank	rs121912835
1000 genomes	rs121912835
hgdp	rs121912835
ensembl	rs121912835
geneview	rs121912835
scholar	rs121912835
google	rs121912835
pharmgkb	rs121912835
gwascentral	rs121912835
openSNP	rs121912835
23andMe	rs121912835
SNPshot	rs121912835
SNPdbe	rs121912835
MSV3d	rs121912835
GWAS Ctlg	rs121912835

Max Magnitude

0

OMIM	120120
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121912835(A;A)
Alt	rs121912835(A;A)
Reference	Rs121912835(G;G)
Significance	Pathogenic
Disease	Transient bullous dermolysis of the newborn
Variation	info
Gene	COL7A1
CLNDBN	Transient bullous dermolysis of the newborn
Reversed	1
HGVS	NC_000003.11:g.48620049C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018987.29,

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