Source: ALL

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: rs1057518984
rs1057518984
ARID1B
1.000 0.280 6 157203997 splice donor variant G/A snv
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.700 0
dbSNP: rs1057519009
rs1057519009
ARID1B
1.000 0.280 6 157181118 frameshift variant -/AA delins
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.700 0
dbSNP: rs1562354784
rs1562354784
ARID1B
0.925 0.280 6 157207612 frameshift variant A/- delins
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.700 0
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs387906812
rs387906812
SMARCB1 ; DERL3
0.882 0.320 22 23834152 missense variant G/A snv 7.0E-06
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs770899419
rs770899419
TBC1D24
1.000 0.280 16 2498384 missense variant A/G snv 4.3E-06
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.010 1.000 1 2014 2014