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: rs121434480
rs121434480
HPGD
0.925 0.080 4 174508699 missense variant C/G snv 7.6E-05 7.0E-06
CUI: C4551679
Disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 		0.800 1.000 1 2008 2008
dbSNP: rs121434481
rs121434481
HPGD
1.000 0.080 4 174493236 missense variant A/G snv
CUI: C0345408
Disease: Hereditary clubbing
Hereditary clubbing 		0.800 1.000 1 2009 2009
dbSNP: rs587777719
rs587777719
HPGD
1.000 0.080 4 174517984 frameshift variant AG/- delins 1.4E-05
CUI: C4551679
Disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 		0.700 1.000 1 2014 2014
dbSNP: rs121434480
rs121434480
HPGD
0.925 0.080 4 174508699 missense variant C/G snv 7.6E-05 7.0E-06
CUI: C2678439
Disease: CRANIOOSTEOARTHROPATHY
CRANIOOSTEOARTHROPATHY 		0.700 0
dbSNP: rs375335006
rs375335006
HPGD
1.000 0.080 4 174495600 missense variant G/A;C snv 1.2E-05
CUI: C4551679
Disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 		0.700 0
dbSNP: rs548208942
rs548208942
HPGD ; LOC105377548
1.000 0.080 4 174521985 frameshift variant AG/- delins 1.5E-04
CUI: C4551679
Disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 		0.700 0
dbSNP: rs577045722
rs577045722
HPGD ; LOC105377548
1.000 0.080 4 174522451 start lost T/A;C snv 5.5E-06; 2.2E-05
CUI: C4551679
Disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 		0.700 0
dbSNP: rs587776676
rs587776676
HPGD
1.000 0.080 4 174518054 frameshift variant GGTCTACAAC/TG delins
CUI: C4551679
Disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 		0.700 0
dbSNP: rs2612656
rs2612656
HPGD
1.000 0.080 4 174501138 intron variant G/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs8752
rs8752
HPGD
0.827 0.160 4 174491326 3 prime UTR variant C/T snv 0.49
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs8752
rs8752
HPGD
0.827 0.160 4 174491326 3 prime UTR variant C/T snv 0.49
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs8752
rs8752
HPGD
0.827 0.160 4 174491326 3 prime UTR variant C/T snv 0.49
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs8752
rs8752
HPGD
0.827 0.160 4 174491326 3 prime UTR variant C/T snv 0.49
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2017 2017
dbSNP: rs8752
rs8752
HPGD
0.827 0.160 4 174491326 3 prime UTR variant C/T snv 0.49
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2014 2014