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: rs281865424
rs281865424
TYRP1 ; LURAP1L-AS1
2 0.925 0.160 9 12702424 missense variant G/A;T snv 2.8E-05 0.800 1.000 2 2006 2013
dbSNP: rs104894130
rs104894130
TYRP1
3 0.925 0.160 9 12695626 stop gained C/G snv 6.0E-05 2.1E-04 0.710 1.000 1 1997 1997
dbSNP: rs61758405
rs61758405
TYRP1
1 1.000 0.160 9 12694066 missense variant G/A snv 1.9E-03 1.7E-03 0.700 1.000 2 2006 2013
dbSNP: rs387906562
rs387906562
TYRP1 ; LURAP1L-AS1
1 1.000 0.160 9 12702411 frameshift variant AACA/- delins 0.700 1.000 1 2008 2008
dbSNP: rs121912778
rs121912778
TYRP1 ; LURAP1L-AS1
1 1.000 0.160 9 12704564 stop gained C/T snv 2.8E-05 6.3E-05 0.700 0
dbSNP: rs140365820
rs140365820
TYRP1 ; LURAP1L-AS1
2 0.925 0.160 9 12704706 splice donor variant G/A snv 5.6E-05 2.0E-04 0.700 0
dbSNP: rs387906560
rs387906560
TYRP1 ; LURAP1L-AS1
2 0.925 0.160 9 12704545 frameshift variant A/- delins 0.700 0
dbSNP: rs387906561
rs387906561
TYRP1
1 1.000 0.160 9 12694101 frameshift variant T/- delins 0.700 0
dbSNP: rs776174514
rs776174514
TYRP1 ; LURAP1L-AS1
1 1.000 0.160 9 12704589 missense variant T/C snv 4.0E-06 0.700 0