Source: CURATED

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: rs873549
rs873549 		1.000 0.080 1 222098425 intron variant C/T snv 0.75
CUI: C0022548
Disease: Keloid
Keloid 		0.820 1.000 1 2010 2013
dbSNP: rs1511412
rs1511412 		1.000 0.080 3 138994862 regulatory region variant A/G;T snv
CUI: C0022548
Disease: Keloid
Keloid 		0.810 1.000 1 2010 2013
dbSNP: rs8032158
rs8032158
NEDD4
1.000 0.080 15 55902679 intron variant T/A;C snv
CUI: C0022548
Disease: Keloid
Keloid 		0.810 1.000 1 2010 2013
dbSNP: rs11130248
rs11130248
HYAL1
1.000 0.080 3 50314769 upstream gene variant A/G snv 0.10
CUI: C0022548
Disease: Keloid
Keloid 		0.800 1.000 1 2010 2010