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: rs730882262
rs730882262
LMNA
4 0.851 0.160 1 156135293 missense variant T/C;G snv 0.710 1.000 1 2015 2015
dbSNP: rs121912998
rs121912998
DSP ; LOC101928076
3 1.000 0.040 6 7542003 missense variant G/A snv 1.6E-03 1.1E-03 0.700 0
dbSNP: rs1307997067
rs1307997067
TAX1BP3 ; P2RX5-TAX1BP3
7 0.851 0.320 17 3664199 missense variant A/C;G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1554108172
rs1554108172
DSP
2 0.925 0.080 6 7579983 stop gained G/T snv 0.700 0