Source: ALL

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: rs28939092
rs28939092
DHCR24
1.000 0.080 1 54852372 missense variant T/G snv 4.0E-06
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		0.800 1.000 2 2001 2011
dbSNP: rs387906939
rs387906939
DHCR24
1.000 0.080 1 54883724 missense variant C/T snv 7.0E-06
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		0.800 1.000 2 2001 2011
dbSNP: rs387906940
rs387906940
DHCR24
1.000 0.080 1 54852346 missense variant C/T snv 8.0E-06
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		0.800 1.000 2 2001 2011
dbSNP: rs119475041
rs119475041
DHCR24
1.000 0.080 1 54875134 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		0.800 0
dbSNP: rs281797256
rs281797256
DHCR24
1.000 0.080 1 54865405 missense variant C/G snv
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		0.700 1.000 2 2001 2011
dbSNP: rs281797257
rs281797257
DHCR24
1.000 0.080 1 54865442 missense variant T/G snv
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		0.700 1.000 2 2001 2011
dbSNP: rs597021
rs597021
DHCR24
1 54873765 intron variant G/T snv 0.62
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs387906938
rs387906938
DHCR24
1.000 0.080 1 54883698 missense variant G/A snv
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		0.700 0
dbSNP: rs600491
rs600491
DHCR24
0.925 0.080 1 54867852 intron variant C/A;T snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.010 1.000 1 2012 2012
dbSNP: rs600491
rs600491
DHCR24
0.925 0.080 1 54867852 intron variant C/A;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2007 2007
dbSNP: rs638944
rs638944
DHCR24
1.000 0.080 1 54876242 intron variant T/G snv 0.51
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2007 2007
dbSNP: rs718265
rs718265
DHCR24
1.000 0.080 1 54854229 synonymous variant A/G snv 0.66 0.67
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2007 2007
dbSNP: rs7374
rs7374
DHCR24
1.000 0.080 1 54850649 3 prime UTR variant A/G snv 0.40
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2007 2007