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: rs1489209061
rs1489209061 		1.000 0.040 X 30308492 stop gained C/G;T snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555972632
rs1555972632 		1.000 0.040 X 30304562 splice acceptor variant GTGTGGCCCACATGACTTTATATCTTTGTACAGAGCATTTCCAGCATCATATCATCCATGCTGACTGTGCCGATGATGGGCCTGAAGAACAGTTCAGCAATGACATTGGCATTGATGAATCTCAGCAGGAAAAGGGTACTATTAAGTTCGATGAATCTGTCATGGGGCCCTTGGTGCGTCATCCTGGTGTGTTCACTGAGTATTTGCTGAGTTCCCCACTGGAGTCCCTGAATGTACTTCACGCACTGCAGGCCCGGCACGTCTGGAGGGAGAAAAATCTCTTTGTTATAAAACAGCTCACCACAGAGTCCTTTGCTAGCTTTTTAAAAATAGCCATTTCTGTTTCATCCCAATTAAACAAGACCCAAAGCTTC/CA delins
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555972640
rs1555972640 		1.000 0.040 X 30304627 frameshift variant TG/- delins
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555972641
rs1555972641 		1.000 0.040 X 30304652 missense variant A/G snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555972655
rs1555972655 		1.000 0.040 X 30304757 frameshift variant CT/- del
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555972666
rs1555972666 		1.000 0.040 X 30304824 splice acceptor variant C/T snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555972943
rs1555972943 		1.000 0.040 X 30308176 splice donor variant TAAGGCCAGTACCCTTACCC/- delins
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555972957
rs1555972957 		1.000 0.040 X 30308240 frameshift variant -/A ins
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555972994
rs1555972994 		1.000 0.040 X 30308412 stop gained G/A snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555973010
rs1555973010 		0.925 0.160 X 30308463 stop gained G/A 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: rs1555973010
rs1555973010 		0.925 0.160 X 30308463 stop gained G/A snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555973021
rs1555973021 		1.000 0.040 X 30308493 missense variant A/G snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555973031
rs1555973031 		1.000 0.040 X 30308520 stop gained G/A snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555973045
rs1555973045 		1.000 0.040 X 30308558 missense variant A/T snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555973058
rs1555973058 		1.000 0.040 X 30308591 missense variant G/T snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555973063
rs1555973063 		1.000 0.040 X 30308610 frameshift variant G/- del
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555973091
rs1555973091 		1.000 0.040 X 30308710 frameshift variant CGTGGGCACGCAGTAGA/GATG delins
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555973092
rs1555973092 		1.000 0.040 X 30308711 frameshift variant -/T delins
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555973115
rs1555973115 		0.925 0.160 X 30308812 frameshift variant TT/-;T delins
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555973115
rs1555973115 		0.925 0.160 X 30308812 frameshift variant TT/-;T delins
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: rs1555973117
rs1555973117 		1.000 0.040 X 30308816 frameshift variant C/-;CC delins
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555973119
rs1555973119 		1.000 0.040 X 30308818 frameshift variant -/TGGG ins
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555973120
rs1555973120 		1.000 0.040 X 30308821 frameshift variant T/- del
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0
dbSNP: rs1555973131
rs1555973131 		0.925 0.160 X 30308848 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: rs1555973131
rs1555973131 		0.925 0.160 X 30308848 stop gained C/T snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		Endocrine System Diseases 0.700 0