Source: ALL

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: rs746315995
rs746315995
ABCA12
1.000 0.080 2 215026840 missense variant C/T snv 1.2E-05
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.700 1.000 2 2006 2006