Source: CLINVAR

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: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
0.925 0.040 12 21817283 missense variant C/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 8 1999 2013