Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894897
rs104894897
NR0B1
0.882 0.160 X 30304676 missense variant A/C snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.810 1.000 16 1994 2005
dbSNP: rs28935481
rs28935481
NR0B1
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 		0.810 1.000 16 1994 2005
dbSNP: rs104894888
rs104894888
NR0B1
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 		0.800 1.000 16 1994 2005
dbSNP: rs104894896
rs104894896
NR0B1
1.000 0.040 X 30308218 missense variant C/A snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.800 1.000 16 1994 2005
dbSNP: rs104894899
rs104894899
NR0B1
1.000 0.040 X 30308222 missense variant A/G;T snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.800 1.000 16 1994 2005
dbSNP: rs104894900
rs104894900
NR0B1
1.000 0.040 X 30308226 missense variant A/C snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.800 1.000 16 1994 2005
dbSNP: rs104894907
rs104894907
NR0B1
1.000 0.040 X 30308474 missense variant A/G snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.800 1.000 16 1994 2005
dbSNP: rs28935482
rs28935482
NR0B1
1.000 0.040 X 30308491 missense variant C/G snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.800 1.000 16 1994 2005