rs28933068, FGFR3

N. diseases: 30
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
316 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
Muenke Syndrome
CUI: C1864436
Disease: Muenke Syndrome
11 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
17 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
Thanatophoric dysplasia, type 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
17 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0