PROK2, prokineticin 2, 60675

N. diseases: 151; N. variants: 11
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: rs104893767
rs104893767 		1.000 3 71784959 missense variant C/G;T snv 1.4E-04
CUI: C3552343
Disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.800 1.000 4 2006 2014
dbSNP: rs121434272
rs121434272 		1.000 3 71781472 missense variant G/A;C snv 7.2E-05; 8.0E-06
CUI: C3552343
Disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.800 1.000 4 2006 2014
dbSNP: rs587777863
rs587777863 		0.925 0.160 3 71784983 missense variant C/G snv 7.0E-06
CUI: C3552343
Disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.800 1.000 4 2006 2014
dbSNP: rs587777864
rs587777864 		1.000 3 71781588 missense variant C/T snv 7.0E-06
CUI: C3552343
Disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.800 1.000 4 2006 2014
dbSNP: rs1388290870
rs1388290870 		1.000 3 71781539 missense variant G/C snv 8.0E-06 7.0E-06
CUI: C3552343
Disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.700 1.000 4 2006 2014
dbSNP: rs1427017264
rs1427017264 		1.000 3 71781552 missense variant C/T snv 4.0E-06
CUI: C3552343
Disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.700 1.000 4 2006 2014
dbSNP: rs13070279
rs13070279 		3 71775534 intron variant G/A;C snv
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs13070279
rs13070279 		3 71775534 intron variant G/A;C snv
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs7635127
rs7635127 		3 71783790 intron variant C/A;G snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7635127
rs7635127 		3 71783790 intron variant C/A;G snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7644362
rs7644362 		3 71780091 intron variant G/A snv 0.68
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs554675432
rs554675432 		1.000 3 71781526 frameshift variant T/- del 1.2E-04 1.3E-04
CUI: C3552343
Disease: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs587777863
rs587777863 		0.925 0.160 3 71784983 missense variant C/G snv 7.0E-06
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs777588279
rs777588279 		1.000 0.040 3 71772800 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2012 2012