Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893895
rs104893895
MSX2
3 0.882 0.160 5 174729222 missense variant C/A;T snv 0.700 0
dbSNP: rs104894193
rs104894193
ALX4
2 0.925 0.120 11 44275472 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs869320717
rs869320717
ALX4
3 0.925 0.120 11 44309772 frameshift variant C/- del 0.700 0
dbSNP: rs28930069
rs28930069
CACNA1S
5 0.882 0.200 1 201053539 missense variant G/A;C snv 0.010 1.000 1 2005 2005
dbSNP: rs80338777
rs80338777
CACNA1S
10 0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05 0.010 1.000 1 2005 2005