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: rs1556022641
rs1556022641
GPC4
1.000 0.200 X 133303022 stop gained G/A snv
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs1556022644
rs1556022644
GPC4
1.000 0.200 X 133303052 stop gained C/A snv
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs1556022962
rs1556022962
GPC4
X 133304782 missense variant C/T snv
CUI: C1840307
Disease: Distal shortening of limbs
Distal shortening of limbs 		0.700 0
dbSNP: rs1556025980
rs1556025980
GPC4
1.000 0.200 X 133324154 frameshift variant -/T delins
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		0.700 0
dbSNP: rs1556028269
rs1556028269
GPC4
1.000 0.200 X 133339186 frameshift variant C/- del
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		0.700 0
dbSNP: rs1569339879
rs1569339879
GPC4
1.000 0.200 X 133303016 frameshift variant -/GCAC delins
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		0.700 0
dbSNP: rs1569341521
rs1569341521
GPC4
1.000 0.200 X 133311393 frameshift variant G/- delins
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		0.700 0
dbSNP: rs1048369
rs1048369
GPC4
0.882 0.160 X 133303309 missense variant G/A snv 0.33 0.38
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.020 1.000 2 2016 2019
dbSNP: rs1048369
rs1048369
GPC4
0.882 0.160 X 133303309 missense variant G/A snv 0.33 0.38
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2016 2016
dbSNP: rs1048369
rs1048369
GPC4
0.882 0.160 X 133303309 missense variant G/A snv 0.33 0.38
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		0.010 1.000 1 2019 2019
dbSNP: rs1048369
rs1048369
GPC4
0.882 0.160 X 133303309 missense variant G/A snv 0.33 0.38
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 1.000 1 2019 2019