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: rs1131691804
rs1131691804
FBN1
8 0.807 0.200 15 48463123 missense variant G/A snv 0.700 0
dbSNP: rs111033548
rs111033548
COL10A1 ; NT5DC1
2 0.925 0.080 6 116120220 stop gained G/T snv 0.010 1.000 1 2018 2018
dbSNP: rs121434597
rs121434597
PTH1R
4 0.851 0.120 3 46898691 missense variant A/G snv 0.010 1.000 1 2016 2016