WNT4, Wnt family member 4, 54361

N. diseases: 135; N. variants: 14
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: rs2235529
rs2235529 		1.000 0.040 1 22123994 intron variant C/T snv 0.13
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.820 1.000 3 2013 2020
dbSNP: rs121908650
rs121908650 		1.000 0.160 1 22120459 missense variant T/C snv
CUI: C2675014
Disease: Mullerian Aplasia and Hyperandrogenism
Mullerian Aplasia and Hyperandrogenism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 3 2004 2008
dbSNP: rs121908653
rs121908653 		0.925 0.200 1 22142888 missense variant A/G snv
CUI: C2675014
Disease: Mullerian Aplasia and Hyperandrogenism
Mullerian Aplasia and Hyperandrogenism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 3 2004 2008
dbSNP: rs3765350
rs3765350 		1 22120823 intron variant A/G snv 0.22
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 2 2014 2017
dbSNP: rs10737462
rs10737462 		1 22118482 3 prime UTR variant C/T snv 0.22
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs12037376
rs12037376 		0.925 0.040 1 22135618 intron variant G/A snv 0.13
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2018 2018
dbSNP: rs12037376
rs12037376 		0.925 0.040 1 22135618 intron variant G/A snv 0.13
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
dbSNP: rs12037376
rs12037376 		0.925 0.040 1 22135618 intron variant G/A snv 0.13
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs121908651
rs121908651 		1.000 0.200 1 22121549 missense variant G/A snv
CUI: C2678492
Disease: Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Endocrine System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs12404660
rs12404660 		1 22132301 intron variant A/G snv 0.20
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs2235529
rs2235529 		1.000 0.040 1 22123994 intron variant C/T snv 0.13
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2014 2014
dbSNP: rs2235529
rs2235529 		1.000 0.040 1 22123994 intron variant C/T snv 0.13
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2018 2018
dbSNP: rs3765350
rs3765350 		1 22120823 intron variant A/G snv 0.22
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2017 2017
dbSNP: rs3820282
rs3820282 		0.925 0.120 1 22141722 intron variant C/T snv 0.13
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs55938609
rs55938609 		1.000 0.040 1 22143958 5 prime UTR variant G/C snv 0.13
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
dbSNP: rs56318008
rs56318008 		0.925 0.120 1 22143914 5 prime UTR variant C/T snv 0.13
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs7526484
rs7526484 		1 22125352 intron variant T/C;G snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs121908652
rs121908652 		1.000 0.160 1 22129682 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C2675014
Disease: Mullerian Aplasia and Hyperandrogenism
Mullerian Aplasia and Hyperandrogenism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs3820282
rs3820282 		0.925 0.120 1 22141722 intron variant C/T snv 0.13
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.030 1.000 3 2015 2019
dbSNP: rs121908653
rs121908653 		0.925 0.200 1 22142888 missense variant A/G snv
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2008 2008
dbSNP: rs140531439
rs140531439 		0.925 0.080 1 22129830 synonymous variant C/A;T snv 1.2E-05; 3.2E-05
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2012 2012
dbSNP: rs140531439
rs140531439 		0.925 0.080 1 22129830 synonymous variant C/A;T snv 1.2E-05; 3.2E-05
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs56318008
rs56318008 		0.925 0.120 1 22143914 5 prime UTR variant C/T snv 0.13
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs56318008
rs56318008 		0.925 0.120 1 22143914 5 prime UTR variant C/T snv 0.13
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2018 2018