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: rs1114167453
rs1114167453
1.000 19 45385569 stop gained G/C snv
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities
0.700 0
dbSNP: rs1114167453
rs1114167453
1.000 19 45385569 stop gained G/C snv
CUI: C0151908
Disease: Dry skin
Dry skin
0.700 0
dbSNP: rs1114167453
rs1114167453
1.000 19 45385569 stop gained G/C snv
CUI: C4023398
Disease: Congenital abnormal hair pattern
Congenital abnormal hair pattern
0.700 0
dbSNP: rs1114167453
rs1114167453
1.000 19 45385569 stop gained G/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0