Source: ALL

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: rs28834970
rs28834970
PTK2B
0.882 0.120 8 27337604 intron variant T/C snv 0.32
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.830 1.000 7 2013 2019
dbSNP: rs117176448
rs117176448
PTK2B
8 27403621 intron variant C/G snv 6.7E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2019 2019
dbSNP: rs10109834
rs10109834
PTK2B
1.000 0.080 8 27354759 intron variant A/C snv 0.44
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2018 2018
dbSNP: rs11776693
rs11776693
PTK2B
8 27448642 intron variant G/A snv 0.41
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs17057051
rs17057051
PTK2B
8 27370037 intron variant A/G snv 0.28
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.700 1.000 1 2015 2015
dbSNP: rs2322599
rs2322599
PTK2B
1.000 0.080 8 27354393 intron variant G/A snv 0.38
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.700 1.000 1 2018 2018
dbSNP: rs6987305
rs6987305
PTK2B
8 27350609 intron variant G/A;C snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs28834970
rs28834970
PTK2B
0.882 0.120 8 27337604 intron variant T/C snv 0.32
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.010 1.000 1 2015 2015
dbSNP: rs28834970
rs28834970
PTK2B
0.882 0.120 8 27337604 intron variant T/C snv 0.32
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL 		0.010 1.000 1 2019 2019
dbSNP: rs41316468
rs41316468
PTK2B ; MIR6842
8 27432501 intron variant T/G snv 7.4E-03
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 1.000 1 2017 2017
dbSNP: rs751019
rs751019
PTK2B
8 27451068 missense variant A/C snv 0.44 0.41
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2007 2007