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: rs104894905
rs104894905
NSDHL
2 1.000 0.120 X 152862632 stop gained G/T snv 0.010 1.000 1 2003 2003
dbSNP: rs147710408
rs147710408
TBX5
1 12 114399559 missense variant T/C snv 9.9E-04 8.4E-04 0.010 1.000 1 2010 2010