Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060501105
rs1060501105 		0.925 0.160 10 102615266 splice acceptor variant A/T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs1060501105
rs1060501105 		0.925 0.160 10 102615266 splice acceptor variant A/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1060501108
rs1060501108 		0.925 0.160 10 102549993 frameshift variant G/- del
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1060501108
rs1060501108 		0.925 0.160 10 102549993 frameshift variant G/- del
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs1060501109
rs1060501109 		0.925 0.160 10 102550088 stop gained C/T snv 1.4E-05
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1060501109
rs1060501109 		0.925 0.160 10 102550088 stop gained C/T snv 1.4E-05
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs1477199832
rs1477199832 		0.925 0.160 10 102597223 frameshift variant -/C delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1477199832
rs1477199832 		0.925 0.160 10 102597223 frameshift variant -/C delins
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs1554840869
rs1554840869 		0.925 0.160 10 102504322 frameshift variant -/C delins
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs1554840869
rs1554840869 		0.925 0.160 10 102504322 frameshift variant -/C delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1564654588
rs1564654588 		0.925 0.160 10 102504327 stop gained A/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1564654588
rs1564654588 		0.925 0.160 10 102504327 stop gained A/T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs1564698683
rs1564698683 		0.925 0.160 10 102597207 stop gained G/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1564698683
rs1564698683 		0.925 0.160 10 102597207 stop gained G/A snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs1564698850
rs1564698850 		0.925 0.160 10 102597278 frameshift variant -/TGTGT ins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1564698850
rs1564698850 		0.925 0.160 10 102597278 frameshift variant -/TGTGT ins
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs202247756
rs202247756 		1.000 0.080 10 102550019 missense variant C/T snv
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs28942088
rs28942088 		1.000 0.040 10 102504196 missense variant C/T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs587776578
rs587776578 		0.882 0.160 10 102599545 splice donor variant G/A;C snv
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs587776579
rs587776579 		1.000 0.040 10 102504217 frameshift variant C/-;CC delins
CUI: C1334970
Disease: Medulloblastoma with extensive nodularity
Medulloblastoma with extensive nodularity 		Neoplasms 0.700 0
dbSNP: rs863224925
rs863224925 		1.000 0.040 10 102504263 frameshift variant C/- del
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs587776578
rs587776578 		0.882 0.160 10 102599545 splice donor variant G/A;C snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 1.000 3 2011 2014
dbSNP: rs587776578
rs587776578 		0.882 0.160 10 102599545 splice donor variant G/A;C snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 3 2011 2014
dbSNP: rs1554841447
rs1554841447 		0.925 0.160 10 102509168 splice acceptor variant G/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 2 2012 2014
dbSNP: rs1554841447
rs1554841447 		0.925 0.160 10 102509168 splice acceptor variant G/A snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 1.000 2 2012 2014