Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909218
rs121909218
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.820 1.000 23 1997 2015
dbSNP: rs587782350
rs587782350
0.776 0.160 10 87957955 missense variant C/T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.810 1.000 23 1997 2017
dbSNP: rs121909221
rs121909221
0.790 0.160 10 87952135 missense variant T/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.800 1.000 23 1997 2015
dbSNP: rs121909223
rs121909223
0.790 0.160 10 87933129 missense variant T/C;G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.800 1.000 23 1997 2015
dbSNP: rs121909225
rs121909225
0.790 0.160 10 87894049 missense variant T/C;G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.800 1.000 23 1997 2015
dbSNP: rs121909226
rs121909226
0.790 0.160 10 87925557 missense variant T/C snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.800 1.000 23 1997 2015
dbSNP: rs398123317
rs398123317
0.790 0.160 10 87925550 missense variant T/A;C;G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.800 1.000 23 1997 2015
dbSNP: rs121909222
rs121909222
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.800 1.000 20 1997 2008
dbSNP: rs121909229
rs121909229
0.683 0.400 10 87933148 missense variant G/A;C;T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.800 1.000 20 1997 2008
dbSNP: rs1060500126
rs1060500126
0.790 0.160 10 87933223 missense variant A/C;G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.800 1.000 3 2004 2015
dbSNP: rs121909238
rs121909238
0.925 0.240 10 87933037 missense variant A/C;G snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME
0.800 1.000 3 2005 2015
dbSNP: rs121909239
rs121909239
0.925 0.240 10 87957973 missense variant A/G;T snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME
0.800 1.000 3 2005 2015
dbSNP: rs121909240
rs121909240
0.925 0.240 10 87957940 missense variant T/C snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME
0.800 1.000 3 2005 2015
dbSNP: rs397514559
rs397514559
0.925 0.240 10 87952125 missense variant C/A snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME
0.800 1.000 3 2005 2015
dbSNP: rs397514560
rs397514560
0.925 0.240 10 87933151 missense variant C/G;T snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME
0.800 1.000 3 2005 2015
dbSNP: rs121909237
rs121909237
1.000 0.040 10 87933121 missense variant C/G snv
Squamous cell carcinoma of the head and neck
0.800 1.000 1 2002 2002
dbSNP: rs121909233
rs121909233
1.000 0.040 10 87864524 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma
0.800 0
dbSNP: rs121909234
rs121909234
1.000 0.040 10 87957867 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma
0.800 0
dbSNP: rs562015640
rs562015640
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.710 1.000 20 1997 2008
dbSNP: rs121909230
rs121909230
0.925 0.080 10 87933094 missense variant T/C snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.700 1.000 20 1997 2008
dbSNP: rs1554825652
rs1554825652
1.000 0.080 10 87961113 missense variant T/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.700 1.000 20 1997 2008
dbSNP: rs398123314
rs398123314
1.000 0.080 10 87961118 missense variant G/A;C snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.700 1.000 20 1997 2008
dbSNP: rs587782343
rs587782343
0.851 0.200 10 87933073 missense variant G/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.700 1.000 20 1997 2008
dbSNP: rs587782360
rs587782360
0.851 0.280 10 87933162 missense variant A/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.700 1.000 20 1997 2008
dbSNP: rs121909235
rs121909235
0.851 0.240 10 87957919 missense variant G/A snv
CUI: C2751642
Disease: GLIOMA SUSCEPTIBILITY 2
GLIOMA SUSCEPTIBILITY 2
0.700 1.000 1 2002 2002