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: rs587777366
rs587777366
XYLT1
1 1.000 16 17141299 missense variant G/A snv 0.800 1.000 3 2014 2017
dbSNP: rs587777367
rs587777367
XYLT1 ; LOC102723692
1 1.000 16 17134708 missense variant G/A snv 7.0E-06 0.800 1.000 3 2014 2017
dbSNP: rs1085307563
rs1085307563
XYLT1 ; LOC102723692
1 1.000 16 17138385 stop gained -/CATT delins 0.700 0
dbSNP: rs1567215600
rs1567215600
XYLT1 ; LOC107987234
1 1.000 16 17470478 stop gained C/A snv 0.700 0
dbSNP: rs1567215615
rs1567215615
XYLT1 ; LOC105371106 ; LOC107987234
1 1.000 16 17470491 frameshift variant GCCTCCCCGCGCCCGCGCCTGGGGCC/- delins 0.700 0
dbSNP: rs1567300982
rs1567300982
XYLT1
1 1.000 16 17158910 splice acceptor variant C/T snv 0.700 0
dbSNP: rs587777368
rs587777368
XYLT1
1 1.000 16 17259462 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs587777369
rs587777369
XYLT1 ; LOC105371106 ; LOC107987234
1 1.000 16 17470521 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs587777370
rs587777370
XYLT1
1 1.000 16 17158911 splice acceptor variant T/G snv 0.700 0