Source: CURATED

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: rs11012
rs11012
PLEKHM1
1.000 0.040 17 45436075 3 prime UTR variant C/T snv 0.13 0.13
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.800 1.000 4 2009 2012
dbSNP: rs17631303
rs17631303
PLEKHM1
1.000 0.120 17 45439036 intron variant A/G snv 0.12
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.800 1.000 1 2013 2013
dbSNP: rs559224144
rs559224144
PLEKHM1
1.000 17 45453712 missense variant G/A snv 4.0E-06
CUI: C4748197
Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3
OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 		0.800 0
dbSNP: rs11012
rs11012
PLEKHM1
1.000 0.040 17 45436075 3 prime UTR variant C/T snv 0.13 0.13
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs144733372
rs144733372
PLEKHM1
0.882 0.120 17 45486856 intron variant T/G snv
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.700 1.000 1 2018 2018
dbSNP: rs144733372
rs144733372
PLEKHM1
0.882 0.120 17 45486856 intron variant T/G snv
CUI: C3158111
Disease: response to SSRI
response to SSRI 		0.700 1.000 1 2018 2018
dbSNP: rs144733372
rs144733372
PLEKHM1
0.882 0.120 17 45486856 intron variant T/G snv
CUI: C0002170
Disease: Alopecia
Alopecia 		0.700 1.000 1 2017 2017
dbSNP: rs144733372
rs144733372
PLEKHM1
0.882 0.120 17 45486856 intron variant T/G snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.700 1.000 1 2018 2018
dbSNP: rs146746174
rs146746174
PLEKHM1
17 45492543 upstream gene variant T/C snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs17631303
rs17631303
PLEKHM1
1.000 0.120 17 45439036 intron variant A/G snv 0.12
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1879586
rs1879586
PLEKHM1
0.925 0.120 17 45489971 intron variant C/G snv 0.12
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 1 2017 2017
dbSNP: rs1879586
rs1879586
PLEKHM1
0.925 0.120 17 45489971 intron variant C/G snv 0.12
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs2077606
rs2077606
PLEKHM1
1.000 0.120 17 45451927 intron variant G/A snv 0.13
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 1 2013 2013
dbSNP: rs2077606
rs2077606
PLEKHM1
1.000 0.120 17 45451927 intron variant G/A snv 0.13
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3946526
rs3946526
PLEKHM1
17 45464290 intron variant C/T snv 0.12
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs9730
rs9730
PLEKHM1
17 45436185 3 prime UTR variant C/A;G snv 0.13
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1567759023
rs1567759023
PLEKHM1
1.000 17 45439482 frameshift variant TG/- delins
CUI: C4748197
Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3
OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 		0.700 0