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: rs760838030
rs760838030
0.827 0.320 3 48466995 missense variant C/T snv 8.0E-06
CUI: C0024145
Disease: Chilblain lupus 1
Chilblain lupus 1
Skin and Connective Tissue Diseases; Wounds and Injuries 0.700 0