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: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		0.700 1.000 2 2017 2017
dbSNP: rs1554944271
rs1554944271
DEAF1
0.851 0.240 11 686925 missense variant C/G snv
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		0.700 1.000 1 2017 2017
dbSNP: rs1014959895
rs1014959895
PRMT7
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		0.700 0
dbSNP: rs1251713297
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		0.700 0
dbSNP: rs1555103652
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		0.700 0
dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		0.700 0