rs121912855

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation

Make rs121912855(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48575218

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs121912855
dbSNP (classic)	rs121912855
ClinGen	rs121912855
ebi	rs121912855
HLI	rs121912855
Exac	rs121912855
Gnomad	rs121912855
Varsome	rs121912855
LitVar	rs121912855
Map	rs121912855
PheGenI	rs121912855
Biobank	rs121912855
1000 genomes	rs121912855
hgdp	rs121912855
ensembl	rs121912855
geneview	rs121912855
scholar	rs121912855
google	rs121912855
pharmgkb	rs121912855
gwascentral	rs121912855
openSNP	rs121912855
23andMe	rs121912855
SNPshot	rs121912855
SNPdbe	rs121912855
MSV3d	rs121912855
GWAS Ctlg	rs121912855

Max Magnitude

3

COL7A1 gene, c.6205C>T (p.Arg2069Cys)

23andMe name: i5004260

ClinVar
Risk	rs121912855(T;T)
Alt	rs121912855(T;T)
Reference	Rs121912855(C;C)
Significance	Pathogenic
Disease	Epidermolysis bullosa dystrophica inversa Abnormal blistering of the skin Abnormality of dental enamel Abnormality of the teeth Alopecia of scalp Decreased body weight Distal muscle weakness EMG abnormality Failure to thrive Hyperpigmentation of the skin Microcephaly Nail dystrophy Scarring Scarring alopecia of scalp Short stature
Variation	info
Gene	COL7A1
CLNDBN	Epidermolysis bullosa dystrophica inversa, autosomal recessive Abnormal blistering of the skin Abnormality of dental enamel Abnormality of the teeth Alopecia of scalp Decreased body weight Distal muscle weakness EMG abnormality Failure to thrive Hyperpigmentation of the skin Microcephaly Nail dystrophy Scarring Scarring alopecia of scalp Short stature
Reversed	1
HGVS	NC_000003.11:g.48612651G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019015.28, RCV000414882.1,