Source: BEFREE

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: rs461155
rs461155
0.925 0.120 21 38819714 synonymous variant A/G;T snv 0.72; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2016 2016
dbSNP: rs461155
rs461155
0.925 0.120 21 38819714 synonymous variant A/G;T snv 0.72; 4.0E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 1.000 1 2011 2011
dbSNP: rs461155
rs461155
0.925 0.120 21 38819714 synonymous variant A/G;T snv 0.72; 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.010 1.000 1 2011 2011