Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267606822
rs267606822
TTLL5 ; FLVCR2
1 1.000 0.080 14 75639419 missense variant C/G;T snv 0.800 1.000 3 2010 2010
dbSNP: rs267606824
rs267606824
TTLL5 ; FLVCR2
1 1.000 0.080 14 75633653 missense variant C/T snv 0.800 1.000 3 2010 2010
dbSNP: rs267606825
rs267606825
TTLL5 ; FLVCR2
2 0.925 0.160 14 75641008 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.800 1.000 3 2010 2010
dbSNP: rs267606823
rs267606823
FLVCR2
1 1.000 0.080 14 75624639 missense variant C/G snv 2.0E-05 7.0E-06 0.700 1.000 3 2010 2010
dbSNP: rs138495705
rs138495705
FLVCR2 ; LOC102724153
1 1.000 0.080 14 75579445 stop gained C/A;T snv 2.0E-05 0.700 0
dbSNP: rs759296326
rs759296326
FLVCR2 ; LOC102724153
1 1.000 0.080 14 75579374 stop gained C/G snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs780523767
rs780523767
TTLL5 ; FLVCR2
1 1.000 0.080 14 75641062 splice donor variant T/C snv 4.0E-06; 4.0E-06 0.700 0