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: rs104893933
rs104893933
SMN1 ; SMN2
1 1.000 0.080 5 70942430 missense variant A/T snv 0.800 1.000 11 1995 2016
dbSNP: rs104893934
rs104893934
SMN1 ; SMN2
1 1.000 0.080 5 70942490 missense variant C/G snv 0.800 1.000 11 1995 2016
dbSNP: rs76163360
rs76163360
SMN1 ; SMN2
1 1.000 0.080 5 70951942 missense variant G/A;T snv 0.800 1.000 11 1995 2016
dbSNP: rs104893922
rs104893922
SMN1 ; SMN2
3 0.925 0.080 5 70946157 missense variant A/G snv 0.800 1.000 8 1995 2011
dbSNP: rs1561500847
rs1561500847
SMN1 ; SMN2
1 1.000 0.080 5 70946109 frameshift variant -/CTGATGCTTTG delins 0.700 1.000 1 1996 1996
dbSNP: rs104893935
rs104893935
SMN1 ; SMN2
3 0.882 0.080 5 70942416 missense variant C/G snv 0.700 0
dbSNP: rs141760116
rs141760116
SMN1 ; SMN2
3 0.925 0.080 5 70951939 splice acceptor variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs1554082110
rs1554082110
SMN1 ; SMN2
4 0.851 0.080 5 70946065 splice acceptor variant ATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATATG/- delins 0.700 0