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: rs141760116
rs141760116
SMN1 ; SMN2
3 0.925 0.080 5 70951939 splice acceptor variant A/C;G;T snv 4.0E-06 0.700 1.000 3 2008 2015
dbSNP: rs1561503058
rs1561503058
SMN1 ; SMN2
1 1.000 0.040 5 70951920 splice acceptor variant CTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT/- del 0.700 1.000 3 2000 2008
dbSNP: rs1217001154
rs1217001154
SMN1 ; SMN2
1 1.000 0.040 5 70951940 splice acceptor variant G/A snv 4.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1170466474
rs1170466474
SMN1 ; SMN2
3 1.000 0.040 5 70925180 missense variant G/A snv 8.2E-05 0.700 0
dbSNP: rs1554082383
rs1554082383
SMN1 ; SMN2
1 1.000 0.040 5 70951956 frameshift variant -/A delins 0.700 0
dbSNP: rs104893922
rs104893922
SMN1 ; SMN2
3 0.925 0.080 5 70946157 missense variant A/G snv 0.040 1.000 4 1997 2002
dbSNP: rs1428103360
rs1428103360
SMN2
2 1.000 0.040 5 70070732 missense variant A/G snv 0.040 1.000 4 1997 2002
dbSNP: rs121909192
rs121909192
SMN2
3 0.925 0.080 5 70076545 missense variant G/C snv 3.3E-03 2.2E-03 0.030 1.000 3 2009 2010
dbSNP: rs79784540
rs79784540
SMN1 ; SMN2
2 0.925 0.080 5 70944713 stop gained T/A snv 0.020 1.000 2 2013 2016
dbSNP: rs104893935
rs104893935
SMN1 ; SMN2
3 0.882 0.080 5 70942416 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1472645065
rs1472645065
SMN1 ; SMN2
1 1.000 0.040 5 70951968 missense variant A/G snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs75586164
rs75586164
SMN2
4 0.925 0.080 5 70070651 missense variant C/T snv 1.3E-04 0.010 1.000 1 1997 1997
dbSNP: rs77804083
rs77804083
SMN1 ; SMN2
3 0.882 0.080 5 70942389 stop gained G/A snv 0.010 1.000 1 2001 2001