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: rs121908976
rs121908976
SLC37A4
2 0.925 0.080 11 119028288 stop gained C/T snv 8.4E-06 0.700 0
dbSNP: rs193302896
rs193302896
SLC37A4
1 1.000 0.080 11 119027856 missense variant T/G snv 0.700 0
dbSNP: rs193302897
rs193302897
SLC37A4 ; TRAPPC4
1 1.000 0.080 11 119025074 missense variant C/T snv 0.700 0
dbSNP: rs80356491
rs80356491
SLC37A4 ; TRAPPC4
3 0.925 0.080 11 119025271 frameshift variant AG/- del 1.7E-04 2.5E-04 0.700 0