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: rs1135401743
rs1135401743
HAAO ; MTA3
0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		0.700 1.000 1 2017 2017
dbSNP: rs180177041
rs180177041
BRAF
0.851 0.240 7 140777006 missense variant C/G snv
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		0.700 0