ABCC6, ATP binding cassette subfamily C member 6, 368

N. diseases: 181; N. variants: 320
Disease: Nevus elasticus ×
Source: ALL
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: rs72653706
rs72653706 		0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03
CUI: C0473583
Disease: Nevus elasticus
Nevus elasticus 		Neoplasms 0.040 1.000 4 2003 2014
dbSNP: rs72650699
rs72650699 		0.851 0.280 16 16202045 stop gained G/A snv 4.8E-05 1.8E-04
CUI: C0473583
Disease: Nevus elasticus
Nevus elasticus 		Neoplasms 0.010 1.000 1 2001 2001
dbSNP: rs72650700
rs72650700 		0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06
CUI: C0473583
Disease: Nevus elasticus
Nevus elasticus 		Neoplasms 0.010 1.000 1 2001 2001
dbSNP: rs72653744
rs72653744 		0.807 0.320 16 16163009 stop gained G/A snv 1.7E-04 1.2E-04
CUI: C0473583
Disease: Nevus elasticus
Nevus elasticus 		Neoplasms 0.010 1.000 1 2001 2001