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rs59075499

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CG;CG) 0 common in clinvar
Make rs59075499(CG;GA)
Make rs59075499(GA;GA)
ReferenceGRCh38 38.1/141
Chromosome17
Position40819625
GeneKRT10, TMEM99
is asnp
is mentioned by
dbSNPrs59075499
dbSNP (classic)rs59075499
ClinGenrs59075499
ebirs59075499
HLIrs59075499
Exacrs59075499
Gnomadrs59075499
Varsomers59075499
LitVarrs59075499
Maprs59075499
PheGenIrs59075499
Biobankrs59075499
1000 genomesrs59075499
hgdprs59075499
ensemblrs59075499
geneviewrs59075499
scholarrs59075499
googlers59075499
pharmgkbrs59075499
gwascentralrs59075499
openSNPrs59075499
23andMers59075499
SNPshotrs59075499
SNPdbers59075499
MSV3drs59075499
GWAS Ctlgrs59075499
Max Magnitude0
OMIM148080
Desc
Variant0014
Relatedalso
ClinVar
Risk rs59075499(GA;GA)
Alt rs59075499(GA;GA)
Reference Rs59075499(CG;CG)
Significance Pathogenic
Disease Ichthyosis not provided
Variation info
Gene KRT10 TMEM99
CLNDBN Ichthyosis, cyclic, with epidermolytic hyperkeratosis not provided
Reversed 1
HGVS NC_000017.10:g.38975877_38975878delCGinsTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000015681.21, RCV000056474.1,