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rs387906640

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906640(A;A)
Make rs387906640(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position40819609
GeneKRT10, TMEM99
is asnp
is mentioned by
dbSNPrs387906640
ebirs387906640
HLIrs387906640
Exacrs387906640
Varsomers387906640
Maprs387906640
PheGenIrs387906640
hapmaprs387906640
1000 genomesrs387906640
hgdprs387906640
ensemblrs387906640
gopubmedrs387906640
geneviewrs387906640
scholarrs387906640
googlers387906640
pharmgkbrs387906640
gwascentralrs387906640
openSNPrs387906640
23andMers387906640
23andMe allrs387906640
SNP Nexus

SNPshotrs387906640
SNPdbers387906640
MSV3drs387906640
GWAS Ctlgrs387906640
Max Magnitude0
ClinVar
Risk rs387906640(A;A)
Alt rs387906640(A;A)
Reference rs387906640(C;C)
Significance Pathogenic
Disease Bullous ichthyosiform erythroderma
Variation info
Gene KRT10 TMEM99
CLNDBN Bullous ichthyosiform erythroderma
Reversed 1
HGVS NC_000017.10:g.38975861G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022631.21,