Source: BEFREE

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: rs1254374766
rs1254374766
AAGAB
1.000 0.080 15 67208580 stop gained G/A snv 4.0E-06
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.010 1.000 1 2012 2012
dbSNP: rs200564757
rs200564757
AAGAB
0.925 0.080 15 67236060 stop gained G/A;T snv 2.0E-05
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.010 1.000 1 2012 2012
dbSNP: rs746488412
rs746488412
AAGAB
0.925 0.080 15 67231868 stop gained G/A snv 8.0E-06
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.010 1.000 1 2012 2012