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: rs121913619
rs121913619
MYH3
4 0.882 0.080 17 10650374 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1354510
rs1354510
LMX1A ; LMX1A-AS2
1 1.000 0.040 1 165206278 intron variant A/G snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs16841013
rs16841013
LMX1A ; LMX1A-AS2
1 1.000 0.040 1 165205722 intron variant C/T snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs2304214
rs2304214
DLL3
1 1.000 0.040 19 39505387 synonymous variant C/G;T snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs3809624
rs3809624
TBX6
1 1.000 0.040 16 30091481 5 prime UTR variant T/C snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs769269532
rs769269532
SOX9 ; SOX9-AS1
2 1.000 0.040 17 72124262 missense variant A/G snv 2.4E-05 1.4E-05 0.010 < 0.001 1 2019 2019
dbSNP: rs770290542
rs770290542
FBN1
1 1.000 0.040 15 48495187 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2020 2020