Source: CLINVAR ×
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: rs1553904077
rs1553904077
REST
2 0.925 0.080 4 56930168 stop gained T/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1553904346
rs1553904346
REST
2 0.925 0.080 4 56931268 frameshift variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1553904481
rs1553904481
REST
2 0.925 0.080 4 56931723 frameshift variant AA/- del 0.700 1.000 1 2017 2017
dbSNP: rs137852812
rs137852812
SOS1
4 0.851 0.200 2 39051211 missense variant G/T snv 0.700 0
dbSNP: rs137852814
rs137852814
SOS1
16 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs267607079
rs267607079
SOS1
13 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
dbSNP: rs387906518
rs387906518
SOS1
1 1.000 0.080 2 38995220 frameshift variant -/G delins 0.700 0
dbSNP: rs397517149
rs397517149
SOS1
4 0.851 0.200 2 39022786 missense variant T/G snv 0.700 0
dbSNP: rs397517159
rs397517159
SOS1
4 0.882 0.200 2 39007168 missense variant C/T snv 0.700 0