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: rs104893927
rs104893927
SMN1 ; SMN2
1 1.000 0.080 5 70942367 missense variant G/C snv 0.800 1.000 5 1997 2007
dbSNP: rs104893931
rs104893931
SMN1 ; SMN2
1 1.000 0.080 5 70938888 missense variant A/T snv 0.800 1.000 5 1997 2007
dbSNP: rs104893932
rs104893932
SMN1 ; SMN2
1 1.000 0.080 5 70946126 missense variant A/G snv 0.800 1.000 5 1997 2007
dbSNP: rs75030631
rs75030631
SMN2
2 0.925 0.080 5 70049690 missense variant C/G snv 5.7E-03 0.700 1.000 4 1997 2004
dbSNP: rs77969175
rs77969175
SMN1 ; SMN2
2 0.925 0.080 5 70951941 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 4 1997 2004
dbSNP: rs121909192
rs121909192
SMN2
3 0.925 0.080 5 70076545 missense variant G/C snv 3.3E-03 2.2E-03 0.700 1.000 1 2009 2009
dbSNP: rs1554066397
rs1554066397
SMN1 ; SMN2
7 0.925 0.080 5 70925108 missense variant C/G;T snv 0.700 1.000 1 1998 1998
dbSNP: rs1554066659
rs1554066659
SMN1 ; SMN2
1 1.000 0.080 5 70946127 missense variant G/T snv 0.700 1.000 1 1997 1997
dbSNP: rs1554066666
rs1554066666
SMN1 ; SMN2
2 0.925 0.080 5 70946163 missense variant C/T snv 0.700 0
dbSNP: rs1554082110
rs1554082110
SMN1 ; SMN2
4 0.851 0.080 5 70946065 splice acceptor variant ATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATATG/- delins 0.700 0
dbSNP: rs1561500842
rs1561500842
SMN1 ; SMN2
1 1.000 0.080 5 70946064 splice acceptor variant A/G snv 0.700 0
dbSNP: rs397514517
rs397514517
SMN1 ; SMN2
1 1.000 0.080 5 70942473 missense variant A/G snv 0.700 0
dbSNP: rs397514518
rs397514518
SMN1 ; SMN2
1 1.000 0.080 5 70942472 missense variant T/C snv 0.700 0
dbSNP: rs75586164
rs75586164
SMN2
4 0.925 0.080 5 70070651 missense variant C/T snv 1.3E-04 0.700 0
dbSNP: rs77301881
rs77301881
SMN1 ; SMN2
1 1.000 0.080 5 70946165 missense variant G/A snv 0.700 0
dbSNP: rs77804083
rs77804083
SMN1 ; SMN2
3 0.882 0.080 5 70942389 stop gained G/A snv 0.700 0
dbSNP: rs79784540
rs79784540
SMN1 ; SMN2
2 0.925 0.080 5 70944713 stop gained T/A snv 0.010 1.000 1 2013 2013