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: rs3743347
rs3743347
IQCH ; AAGAB
15 67254963 intron variant C/A;T snv 0.26; 8.2E-06
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs7173826
rs7173826
AAGAB
15 67236036 missense variant T/C;G snv 8.0E-06; 0.37
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.700 1.000 1 2019 2019
dbSNP: rs1057518846
rs1057518846
AAGAB
1.000 0.080 15 67235978 splice donor variant C/A;G snv
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.700 0
dbSNP: rs1567027297
rs1567027297
AAGAB
1.000 0.080 15 67236420 frameshift variant CT/- delins
CUI: C1835662
Disease: Keratosis palmoplantaris papulosa
Keratosis palmoplantaris papulosa 		0.700 0
dbSNP: rs1567027610
rs1567027610
AAGAB
1.000 0.080 15 67236690 frameshift variant GAAA/- delins
CUI: C1835662
Disease: Keratosis palmoplantaris papulosa
Keratosis palmoplantaris papulosa 		0.700 0
dbSNP: rs200564757
rs200564757
AAGAB
0.925 0.080 15 67236060 stop gained G/A;T snv 2.0E-05
CUI: C1835662
Disease: Keratosis palmoplantaris papulosa
Keratosis palmoplantaris papulosa 		0.700 0
dbSNP: rs746488412
rs746488412
AAGAB
0.925 0.080 15 67231868 stop gained G/A snv 8.0E-06
CUI: C1835662
Disease: Keratosis palmoplantaris papulosa
Keratosis palmoplantaris papulosa 		0.700 0
dbSNP: rs753247583
rs753247583
AAGAB
1.000 0.080 15 67203547 splice donor variant C/T snv 1.6E-05 1.4E-05
CUI: C1835662
Disease: Keratosis palmoplantaris papulosa
Keratosis palmoplantaris papulosa 		0.700 0
dbSNP: rs781596375
rs781596375
AAGAB
1.000 0.080 15 67231876 frameshift variant C/- delins
CUI: C1835662
Disease: Keratosis palmoplantaris papulosa
Keratosis palmoplantaris papulosa 		0.700 0
dbSNP: rs1254374766
rs1254374766
AAGAB
1.000 0.080 15 67208580 stop gained G/A snv 4.0E-06
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.010 1.000 1 2012 2012
dbSNP: rs200564757
rs200564757
AAGAB
0.925 0.080 15 67236060 stop gained G/A;T snv 2.0E-05
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.010 1.000 1 2012 2012
dbSNP: rs746488412
rs746488412
AAGAB
0.925 0.080 15 67231868 stop gained G/A snv 8.0E-06
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.010 1.000 1 2012 2012