Source: CURATED ×
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: rs137853063
rs137853063
VRK1
3 0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06 0.710 1.000 0 2016 2016
dbSNP: rs713993043
rs713993043
DYNC1H1
2 0.925 0.080 14 101980380 missense variant G/A;T snv 0.710 1.000 0 2015 2015
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: rs746361190
rs746361190
CNTNAP1
4 0.882 0.120 17 42691905 missense variant C/A snv 4.0E-06 0.700 0
dbSNP: rs770905160
rs770905160
DYSF
5 0.882 0.120 2 71656236 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs794727634
rs794727634
DYNC1H1
2 0.925 0.040 14 101979952 missense variant G/A snv 0.700 0