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: rs1194624468
rs1194624468
PTK2
1.000 0.040 8 140700895 missense variant A/T snv 1.6E-05
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic 		0.010 1.000 1 2016 2016
dbSNP: rs141156594
rs141156594
RTTN
0.925 0.080 18 70196537 missense variant A/C;G snv 1.6E-05; 3.1E-03
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic 		0.010 < 0.001 1 2015 2015
dbSNP: rs885479
rs885479
MC1R
0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic 		0.010 1.000 1 2015 2015