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: rs1554852272
rs1554852272 		1.000 10 102592654 missense variant A/G snv
CUI: C4540342
Disease: JOUBERT SYNDROME 32
JOUBERT SYNDROME 32 		0.800 1.000 1 2017 2017
dbSNP: rs1554854758
rs1554854758 		1.000 10 102617349 missense variant T/C snv
CUI: C4540342
Disease: JOUBERT SYNDROME 32
JOUBERT SYNDROME 32 		0.800 1.000 1 2017 2017
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
dbSNP: rs1564676479
rs1564676479 		0.925 0.160 10 102550107 splice donor variant G/A snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 1.000 2 2012 2014
dbSNP: rs1564676479
rs1564676479 		0.925 0.160 10 102550107 splice donor 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: rs111604275
rs111604275 		10 102506502 intron variant C/T snv 3.7E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs113422568
rs113422568 		10 102578181 intron variant G/A snv 0.25
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs113422568
rs113422568 		10 102578181 intron variant G/A snv 0.25
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs12572775
rs12572775 		10 102525837 intron variant A/T snv 0.47
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1554852279
rs1554852279 		0.925 0.160 10 102592711 frameshift variant -/TA delins
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs1554852279
rs1554852279 		0.925 0.160 10 102592711 frameshift variant -/TA 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 1.000 1 2012 2012
dbSNP: rs17114641
rs17114641 		10 102527602 intron variant T/G snv 9.4E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs201333164
rs201333164 		10 102518505 intron variant GTCT/-;GTCTGTCT;GTCTGTCTGTCT delins 6.7E-04
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2274351
rs2274351 		10 102504350 intron variant C/G;T snv 0.48
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs35879747
rs35879747 		10 102588937 intron variant T/A snv 0.18
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2018 2018
dbSNP: rs3824756
rs3824756 		10 102599593 intron variant T/C;G snv 0.16; 8.2E-06
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2015 2015
dbSNP: rs3862030
rs3862030 		10 102567827 intron variant A/G snv 0.45
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs3862030
rs3862030 		10 102567827 intron variant A/G snv 0.45
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs7475335
rs7475335 		10 102583671 intron variant C/A snv 0.26
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs75174967
rs75174967 		10 102517336 intron variant G/A snv 8.2E-03
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs75174967
rs75174967 		10 102517336 intron variant G/A snv 8.2E-03
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs76101236
rs76101236 		10 102570540 intron variant GTTT/-;GTTTGTTT delins
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017