Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs57837128
rs57837128
KRT1
0.882 0.120 12 52676314 missense variant A/G snv
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.800 1.000 2 1999 1999
dbSNP: rs59075499
rs59075499
KRT10 ; TMEM99
1.000 0.080 17 40819625 missense variant CG/TC mnv
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.800 1.000 2 1997 1998
dbSNP: rs61218439
rs61218439
KRT1
1.000 0.080 12 52676315 missense variant T/A;C snv 8.0E-06
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.800 0
dbSNP: rs62651994
rs62651994
KRT10 ; TMEM99
1.000 0.080 17 40819553 missense variant A/G snv
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.700 1.000 2 1997 1998