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: 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
dbSNP: rs387907373
rs387907373 		0.925 0.080 X 30304718 missense variant C/A snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.710 1.000 1 2012 2012
dbSNP: rs748162844
rs748162844 		X 30308585 missense variant G/A;T snv
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs104894886
rs104894886 		1.000 0.040 X 30308257 stop gained C/T snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs104894887
rs104894887 		1.000 0.040 X 30308576 stop gained A/T snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs104894889
rs104894889 		1.000 0.040 X 30308660 stop gained C/T snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs104894890
rs104894890 		1.000 0.040 X 30308517 stop gained G/A snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs104894892
rs104894892 		1.000 0.040 X 30309091 stop gained G/T snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs104894894
rs104894894 		1.000 0.040 X 30304809 stop gained G/A snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs104894895
rs104894895 		1.000 0.040 X 30308551 stop gained G/C snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs104894898
rs104894898 		1.000 0.040 X 30308773 stop gained G/A;T snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs104894906
rs104894906 		1.000 0.040 X 30304795 stop gained G/T snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs104894908
rs104894908 		1.000 0.040 X 30309255 stop gained G/A;C snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1060499835
rs1060499835 		1.000 0.040 X 30308516 missense variant T/G snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1131691564
rs1131691564 		0.925 0.160 X 30308656 stop gained C/T snv
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: rs1131691564
rs1131691564 		0.925 0.160 X 30308656 stop gained C/T snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0