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: 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: 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: 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
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: 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: 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: 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