Have questions? Visit https://www.reddit.com/r/SNPedia

rs147040026

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs147040026(C;T)
Make rs147040026(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48591738
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs147040026
dbSNP (old)rs147040026
ClinGenrs147040026
ebirs147040026
HLIrs147040026
Exacrs147040026
Gnomadrs147040026
Varsomers147040026
LitVarrs147040026
Maprs147040026
PheGenIrs147040026
Biobankrs147040026
1000 genomesrs147040026
hgdprs147040026
ensemblrs147040026
gopubmedrs147040026
geneviewrs147040026
scholarrs147040026
googlers147040026
pharmgkbrs147040026
gwascentralrs147040026
openSNPrs147040026
23andMers147040026
23andMe allrs147040026
SNPshotrs147040026
SNPdbers147040026
MSV3drs147040026
GWAS Ctlgrs147040026
Max Magnitude0
ClinVar
Risk rs147040026(T;T)
Alt rs147040026(T;T)
Reference Rs147040026(C;C)
Significance Probable-Pathogenic
Disease Abnormality of the thyroid gland Congenital bullous ichthyosiform erythroderma Epidermal nevus Ichthyosis
Variation info
Gene COL7A1
CLNDBN Abnormality of the thyroid gland Congenital bullous ichthyosiform erythroderma Epidermal nevus Ichthyosis
Reversed 0
HGVS NC_000003.11:g.48629171C>T
CLNSRC
CLNACC RCV000415424.1,