Gene: SMN2 ×
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: rs104893930
rs104893930
SMN1 ; SMN2
1 1.000 0.080 5 70938845 missense variant G/A snv 0.800 1.000 7 1997 2012
dbSNP: rs104893935
rs104893935
SMN1 ; SMN2
3 0.882 0.080 5 70942416 missense variant C/G snv 0.800 1.000 7 1997 2012
dbSNP: rs75030631
rs75030631
SMN2
2 0.925 0.080 5 70049690 missense variant C/G snv 5.7E-03 0.700 1.000 5 1997 2011
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 5 1997 2011
dbSNP: rs1561498701
rs1561498701
SMN1 ; SMN2
5 1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins 0.700 1.000 1 2013 2013
dbSNP: rs1554066397
rs1554066397
SMN1 ; SMN2
7 0.925 0.080 5 70925108 missense variant C/G;T snv 0.700 0
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: rs77804083
rs77804083
SMN1 ; SMN2
3 0.882 0.080 5 70942389 stop gained G/A snv 0.700 0