Source: CLINVAR

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: rs104894094
rs104894094
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME
0.800 1.000 10 1994 2016
dbSNP: rs104894094
rs104894094
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 0 1999 2016
dbSNP: rs104894094
rs104894094
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
0.800 1.000 0 1994 2009
dbSNP: rs104894095
rs104894095
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
0.800 1.000 0 1994 2009
dbSNP: rs104894097
rs104894097
0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
0.800 1.000 0 1994 2009
dbSNP: rs104894098
rs104894098
0.851 0.200 9 21970982 missense variant A/T snv
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
0.800 1.000 0 1994 2009
dbSNP: rs104894099
rs104894099
0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
0.800 1.000 0 1994 2009
dbSNP: rs113798404
rs113798404
0.925 0.080 9 21970995 missense variant C/G;T snv
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
0.800 0
dbSNP: rs137854597
rs137854597
1.000 9 21971094 missense variant C/T snv 4.3E-06
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
0.800 1.000 0 1994 2009
dbSNP: rs137854599
rs137854599
0.882 0.080 9 21971093 missense variant C/G;T snv
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
0.800 1.000 0 1994 2009
dbSNP: rs878853647
rs878853647
0.882 0.120 9 21971099 missense variant C/G;T snv
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
0.800 1.000 0 1994 2009
dbSNP: rs104894097
rs104894097
0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05
CUI: C0025202
Disease: melanoma
melanoma
0.750 1.000 0 1995 2015
dbSNP: rs878853647
rs878853647
0.882 0.120 9 21971099 missense variant C/G;T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.710 1.000 8 1994 2013
dbSNP: rs104894098
rs104894098
0.851 0.200 9 21970982 missense variant A/T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.710 1.000 6 1995 2013
dbSNP: rs104894097
rs104894097
0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 19 1995 2015
dbSNP: rs104894095
rs104894095
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 16 1995 2010
dbSNP: rs104894097
rs104894097
0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.700 1.000 16 1995 2015
dbSNP: rs730881674
rs730881674
1.000 0.120 9 21971116 frameshift variant GTGAGAGTGGCGGGGTCGG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 15 1995 2015
dbSNP: rs878853650
rs878853650
0.925 0.120 9 21974733 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 15 1995 2010
dbSNP: rs199907548
rs199907548
0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 14 1994 2016
dbSNP: rs768966657
rs768966657
1.000 0.120 9 21971021 inframe insertion -/ACG delins 1.3E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 14 1996 2016
dbSNP: rs104894097
rs104894097
0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME
0.700 1.000 13 1998 2016
dbSNP: rs1800586
rs1800586
0.851 0.240 9 21974861 5 prime UTR variant C/A;G;T snv 4.3E-05; 6.1E-05; 8.7E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 13 1999 2016
dbSNP: rs587780668
rs587780668
0.925 0.120 9 21974796 start lost GGCTCCATGCTGCTCCCCGCCGCC/-;GGCTCCATGCTGCTCCCCGCCGCCGGCTCCATGCTGCTCCCCGCCGCC delins 1.5E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 13 1995 2015
dbSNP: rs104894095
rs104894095
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.700 1.000 12 1995 2015