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: rs104894466
rs104894466
PABPN1 ; BCL2L2-PABPN1
1 1.000 0.120 14 23321504 missense variant G/C snv 0.710 1.000 1 2011 2011
dbSNP: rs193922941
rs193922941
PABPN1 ; BCL2L2-PABPN1
2 1.000 0.120 14 23321472 start lost GGCGGCGGCGGCGGC/-;GGCGGC;GGCGGCGGC;GGCGGCGGCGGC;GGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC delins 0.700 0
dbSNP: rs1244793237
rs1244793237
GCA
1 1.000 0.120 2 162347645 missense variant C/G snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs748685566
rs748685566
GCA
1 1.000 0.120 2 162347642 missense variant C/G snv 4.0E-06 0.010 1.000 1 2011 2011