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: rs121913479
rs121913479
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 1.000 6 1995 1999
dbSNP: rs121913479
rs121913479
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.800 0
dbSNP: rs121913479
rs121913479
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
Malignant neoplasm of urinary bladder
0.700 1.000 2 1999 2001
dbSNP: rs121913479
rs121913479
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.700 1.000 1 2005 2005