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rs58075662

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs58075662(A;A)
Make rs58075662(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position40822119
GeneKRT10, TMEM99
is asnp
is mentioned by
dbSNPrs58075662
ebirs58075662
HLIrs58075662
Exacrs58075662
Varsomers58075662
Maprs58075662
PheGenIrs58075662
hapmaprs58075662
1000 genomesrs58075662
hgdprs58075662
ensemblrs58075662
gopubmedrs58075662
geneviewrs58075662
scholarrs58075662
googlers58075662
pharmgkbrs58075662
gwascentralrs58075662
openSNPrs58075662
23andMers58075662
23andMe allrs58075662
SNP Nexus

SNPshotrs58075662
SNPdbers58075662
MSV3drs58075662
GWAS Ctlgrs58075662
Max Magnitude0
OMIM148080
Desc
Variant0003
Relatedalso


ClinVar
Risk rs58075662(A,C,T;A,C,T)
Alt rs58075662(A,C,T;A,C,T)
Reference rs58075662(G;G)
Significance Pathogenic
Disease not provided Bullous ichthyosiform erythroderma
Variation info
Gene KRT10 TMEM99
CLNDBN not provided Bullous ichthyosiform erythroderma
Reversed 1
HGVS NC_000017.10:g.38978371C>A; NC_000017.10:g.38978371C>G; NC_000017.10:g.38978371C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000056499.1, RCV000056498.1, RCV000015674.25, RCV000056497.1,