Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893746
rs104893746
0.851 0.120 3 69956460 stop gained C/T snv
CUI: C0221262
Disease: Poliosis
Poliosis
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0