PAK5, p21 (RAC1) activated kinase 5, 57144

N. diseases: 52; N. variants: 6
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: rs221013
rs221013
20 9834880 intron variant T/A;C snv
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs2224610
rs2224610
20 9650739 intron variant T/C snv 6.5E-02
CUI: C0037369
Disease: Smoking
Smoking
Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs2224610
rs2224610
20 9650739 intron variant T/C snv 6.5E-02
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors
Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs6056869
rs6056869
1.000 0.040 20 9781800 intron variant G/A;C snv
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1484691555
rs1484691555
1.000 0.040 20 9539512 missense variant C/T snv 4.0E-06
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
Neoplasms 0.700 0
dbSNP: rs952665081
rs952665081
1.000 0.080 20 9580201 missense variant A/G snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs6056923
rs6056923
1.000 0.160 20 9840271 intron variant T/C snv 0.10
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis
Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2015 2015