Source: CLINVAR

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: rs1114167452
rs1114167452
KDSR
1.000 18 63350940 missense variant T/A snv 4.0E-06
CUI: C4479620
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 		0.800 0
dbSNP: rs1114167450
rs1114167450
KDSR
1.000 18 63362811 inframe deletion CTT/- del 8.0E-06
CUI: C4479620
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 		0.700 0
dbSNP: rs1114167451
rs1114167451
KDSR
1.000 18 63355565 splice acceptor variant T/G snv
CUI: C4479620
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 		0.700 0
dbSNP: rs752611378
rs752611378
KDSR
1.000 18 63335257 splice region variant C/T snv 2.4E-05 1.4E-05
CUI: C4479620
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 		0.700 0