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: rs121434534
rs121434534 		1.000 0.240 15 51211017 missense variant G/A snv 1.2E-05 2.8E-05
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 4 1993 2014
dbSNP: rs121434536
rs121434536 		1.000 0.240 15 51212460 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 4 1993 2014
dbSNP: rs78310315
rs78310315 		1.000 0.240 15 51211010 missense variant C/T snv 4.0E-06
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 4 1993 2014
dbSNP: rs12907866
rs12907866 		15 51253257 intron variant A/G snv 0.35
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.800 1.000 1 2013 2013
dbSNP: rs2414095
rs2414095 		15 51232095 intron variant A/G snv 0.69
CUI: C0202022
Disease: Follicle stimulating hormone measurement
Follicle stimulating hormone measurement 		0.800 1.000 1 2013 2013
dbSNP: rs80051519
rs80051519 		1.000 0.240 15 51212489 missense variant C/T snv 7.0E-06
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.800 0
dbSNP: rs765057534
rs765057534 		0.851 0.240 15 51222402 missense variant C/T snv 4.0E-06
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases 0.710 1.000 1 2014 2014
dbSNP: rs10519302
rs10519302 		15 51307486 intron variant A/G snv 0.20
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2015 2019
dbSNP: rs16964211
rs16964211 		15 51238298 intron variant G/A snv 0.14
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2010 2014
dbSNP: rs2305707
rs2305707 		15 51277213 non coding transcript exon variant A/G;T snv 0.25
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2010 2019
dbSNP: rs727479
rs727479 		0.790 0.240 15 51242350 intron variant C/A;T snv
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		0.700 1.000 2 2012 2018
dbSNP: rs727479
rs727479 		0.790 0.240 15 51242350 intron variant C/A;T snv
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		0.700 1.000 2 2012 2018
dbSNP: rs12591359
rs12591359 		0.925 0.080 15 51247171 intron variant G/A snv 0.41
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs12591359
rs12591359 		0.925 0.080 15 51247171 intron variant G/A snv 0.41
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		0.700 1.000 1 2019 2019
dbSNP: rs146939415
rs146939415 		15 51230013 intron variant G/C snv 8.7E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs151006058
rs151006058 		15 51223259 intron variant TGAATGAA/-;TGAA;TGAATGAATGAA;TGAATGAATGAATGAA;TGAATGAATGAATGAATGAA;TGAATGAATGAATGAATGAATGAA;TGAATGAATGAATGAATGAATGAATGAA delins
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs151006058
rs151006058 		15 51223259 intron variant TGAATGAA/-;TGAA;TGAATGAATGAA;TGAATGAATGAATGAA;TGAATGAATGAATGAATGAA;TGAATGAATGAATGAATGAATGAA;TGAATGAATGAATGAATGAATGAATGAA delins
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		0.700 1.000 1 2019 2019
dbSNP: rs16964211
rs16964211 		15 51238298 intron variant G/A snv 0.14
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs17601876
rs17601876 		1.000 0.080 15 51261712 intron variant A/G snv 0.58
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs17601876
rs17601876 		1.000 0.080 15 51261712 intron variant A/G snv 0.58
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		0.700 1.000 1 2019 2019
dbSNP: rs17601876
rs17601876 		1.000 0.080 15 51261712 intron variant A/G snv 0.58
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2018 2018
dbSNP: rs1841128
rs1841128 		15 51332142 intron variant T/G snv 0.57
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs2305707
rs2305707 		15 51277213 non coding transcript exon variant A/G;T snv 0.25
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs2414095
rs2414095 		15 51232095 intron variant A/G snv 0.69
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs2414095
rs2414095 		15 51232095 intron variant A/G snv 0.69
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		0.700 1.000 1 2013 2013