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rs121912855

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation
Make rs121912855(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position48575218
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs121912855
ClinGenrs121912855
ebirs121912855
HLIrs121912855
Exacrs121912855
Varsomers121912855
Maprs121912855
PheGenIrs121912855
hapmaprs121912855
1000 genomesrs121912855
hgdprs121912855
ensemblrs121912855
gopubmedrs121912855
geneviewrs121912855
scholarrs121912855
googlers121912855
pharmgkbrs121912855
gwascentralrs121912855
openSNPrs121912855
23andMers121912855
23andMe allrs121912855
SNP Nexus

SNPshotrs121912855
SNPdbers121912855
MSV3drs121912855
GWAS Ctlgrs121912855
Max Magnitude3

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,