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: rs121918453
rs121918453
PTPN11
15 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs121918466
rs121918466
PTPN11
12 0.752 0.280 12 112450416 missense variant A/G snv 0.700 0
dbSNP: rs397507520
rs397507520
PTPN11
34 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
dbSNP: rs397516830
rs397516830
RAF1
5 0.827 0.160 3 12604182 missense variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs267607048
rs267607048
SHOC2
12 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 1.000 12 2009 2013
dbSNP: rs397517154
rs397517154
SOS1
15 0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 4 2007 2011
dbSNP: rs574088829
rs574088829
SOS1
1 0.925 0.160 2 39012319 missense variant T/A;G snv 4.0E-06 0.700 1.000 4 2007 2013