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: rs554294508
rs554294508
EXTL3
1 1.000 8 28717441 missense variant C/T snv 1.2E-05 2.1E-05 0.800 1.000 2 2017 2017
dbSNP: rs770842408
rs770842408
EXTL3
1 1.000 8 28718029 missense variant A/G snv 6.0E-05 2.8E-05 0.800 1.000 2 2017 2017
dbSNP: rs747676107
rs747676107
EXTL3
1 1.000 8 28717074 missense variant C/A;T snv 8.0E-05; 4.0E-06 0.800 0
dbSNP: rs1332006145
rs1332006145
EXTL3
1 1.000 8 28717596 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs749621890
rs749621890
EXTL3
7 0.851 0.040 8 28717012 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 0