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: rs143141578
rs143141578 		0.925 0.080 X 30308764 missense variant G/C snv 2.3E-04 3.9E-04
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs143141578
rs143141578 		0.925 0.080 X 30308764 missense variant G/C snv 2.3E-04 3.9E-04
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs132630327
rs132630327 		1.000 0.040 X 30309049 stop gained C/G;T snv 2.8E-05 4.8E-05
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1324519932
rs1324519932 		0.925 0.160 X 30308445 stop gained C/A;G snv 1.3E-05 9.5E-06
CUI: C1848296
Disease: DOSAGE-SENSITIVE SEX REVERSAL
DOSAGE-SENSITIVE SEX REVERSAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1324519932
rs1324519932 		0.925 0.160 X 30308445 stop gained C/A;G snv 1.3E-05 9.5E-06
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1335054067
rs1335054067 		1.000 0.040 X 30308211 missense variant C/A snv 1.1E-05
CUI: C0004509
Disease: Azoospermia
Azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs767828388
rs767828388 		0.925 0.160 X 30308836 stop gained G/A;C snv 6.1E-06
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs767828388
rs767828388 		0.925 0.160 X 30308836 stop gained G/A;C snv 6.1E-06
CUI: C1848296
Disease: DOSAGE-SENSITIVE SEX REVERSAL
DOSAGE-SENSITIVE SEX REVERSAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs753734546
rs753734546 		1.000 0.040 X 30308542 stop gained G/C;T snv 6.1E-06
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs104894891
rs104894891 		1.000 0.040 X 30308851 stop gained C/A;T snv 6.0E-06
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs104894888
rs104894888 		1.000 0.040 X 30308564 missense variant C/G;T snv 5.9E-06
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.800 1.000 16 1994 2005
dbSNP: rs1311271225
rs1311271225 		1.000 0.040 X 30308599 stop gained G/A;T snv 5.9E-06
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs28935481
rs28935481 		0.882 0.160 X 30304673 missense variant T/A;C snv 5.4E-06
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.810 1.000 16 1994 2005
dbSNP: rs28935481
rs28935481 		0.882 0.160 X 30304673 missense variant T/A;C snv 5.4E-06
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter 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 1997 1997
dbSNP: rs28935481
rs28935481 		0.882 0.160 X 30304673 missense variant T/A;C snv 5.4E-06
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		Endocrine System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs104894896
rs104894896 		1.000 0.040 X 30308218 missense variant C/A snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.800 1.000 16 1994 2005
dbSNP: rs104894897
rs104894897 		0.882 0.160 X 30304676 missense variant A/C snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.810 1.000 16 1994 2005
dbSNP: rs104894899
rs104894899 		1.000 0.040 X 30308222 missense variant A/G;T snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.800 1.000 16 1994 2005
dbSNP: rs104894900
rs104894900 		1.000 0.040 X 30308226 missense variant A/C snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.800 1.000 16 1994 2005
dbSNP: rs104894907
rs104894907 		1.000 0.040 X 30308474 missense variant A/G snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.800 1.000 16 1994 2005
dbSNP: rs28935482
rs28935482 		1.000 0.040 X 30308491 missense variant C/G snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.800 1.000 16 1994 2005
dbSNP: rs104894897
rs104894897 		0.882 0.160 X 30304676 missense variant A/C snv
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 < 0.001 1 2001 2001
dbSNP: rs104894897
rs104894897 		0.882 0.160 X 30304676 missense variant A/C snv
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		Endocrine System Diseases 0.010 < 0.001 1 2001 2001
dbSNP: rs104894897
rs104894897 		0.882 0.160 X 30304676 missense variant A/C snv
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		Endocrine System Diseases 0.010 < 0.001 1 2001 2001
dbSNP: rs387907373
rs387907373 		0.925 0.080 X 30304718 missense variant C/A snv
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.010 1.000 1 2012 2012