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rs58852768

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs58852768(C;T)
Make rs58852768(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position40822120
GeneKRT10, TMEM99
is asnp
is mentioned by
dbSNPrs58852768
ebirs58852768
HLIrs58852768
Exacrs58852768
Varsomers58852768
Maprs58852768
PheGenIrs58852768
hapmaprs58852768
1000 genomesrs58852768
hgdprs58852768
ensemblrs58852768
gopubmedrs58852768
geneviewrs58852768
scholarrs58852768
googlers58852768
pharmgkbrs58852768
gwascentralrs58852768
openSNPrs58852768
23andMers58852768
23andMe allrs58852768
SNP Nexus

SNPshotrs58852768
SNPdbers58852768
MSV3drs58852768
GWAS Ctlgrs58852768
Max Magnitude0
OMIM148080
Desc
Variant0010
Relatedalso
ClinVar
Risk rs58852768(A,G,T;A,G,T)
Alt rs58852768(A,G,T;A,G,T)
Reference rs58852768(C;C)
Significance Pathogenic
Disease Bullous ichthyosiform erythroderma not provided
Variation info
Gene KRT10 TMEM99
CLNDBN Bullous ichthyosiform erythroderma not provided
Reversed 1
HGVS NC_000017.10:g.38978372G>A; NC_000017.10:g.38978372G>C; NC_000017.10:g.38978372G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015677.21, RCV000056496.1, RCV000057504.1, RCV000056495.1,