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: rs104894171
rs104894171
MINPP1
1 1.000 10 87508507 missense variant A/G snv 0.800 1.000 0 2001 2001
dbSNP: rs114817817
rs114817817
SRGAP1 ; LOC105369798
1 1.000 12 64108967 missense variant C/T snv 1.1E-03 9.9E-04 0.800 1.000 0 2013 2013
dbSNP: rs11554290
rs11554290
NRAS
25 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.800 0
dbSNP: rs119486096
rs119486096
MINPP1 ; LOC112268064
1 1.000 10 87505037 missense variant C/T snv 0.800 0
dbSNP: rs28933406
rs28933406
HRAS ; LRRC56
17 0.667 0.480 11 533875 missense variant G/C;T snv 0.800 1.000 0 2003 2003
dbSNP: rs781626187
rs781626187
SRGAP1 ; LOC105369801
1 1.000 12 64016970 missense variant A/C;T snv 2.9E-05; 4.1E-06 0.800 1.000 0 2013 2013
dbSNP: rs797044990
rs797044990
SRGAP1
1 1.000 12 64062938 missense variant G/A snv 0.800 0
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
30 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 0
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
52 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
36 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121913364
rs121913364
BRAF
14 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs1564566774
rs1564566774
PTEN
1 1.000 10 87957890 frameshift variant A/- del 0.700 0