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: rs397514759
rs397514759
RPSA ; SNORA6
1 1.000 0.080 3 39407678 stop gained C/T snv 0.700 0
dbSNP: rs398122389
rs398122389
RPSA
1 1.000 0.080 3 39411738 frameshift variant -/TCATG delins 0.700 0
dbSNP: rs397514760
rs397514760
RPSA ; SNORA62
1 1.000 0.080 3 39411688 missense variant C/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs397514761
rs397514761
RPSA ; SNORA62
1 1.000 0.080 3 39411706 missense variant C/T snv 0.800 1.000 1 2013 2013
dbSNP: rs397514762
rs397514762
RPSA ; SNORA6
1 1.000 0.080 3 39408633 missense variant C/A snv 0.800 1.000 1 2013 2013
dbSNP: rs397514763
rs397514763
RPSA ; SNORA6
1 1.000 0.080 3 39408644 missense variant C/T snv 0.800 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs182052
rs182052
ADIPOQ
19 0.701 0.440 3 186842993 intron variant G/A snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs2241767
rs2241767
ADIPOQ ; ADIPOQ-AS1
10 0.763 0.440 3 186853407 intron variant A/G snv 0.10 0.010 1.000 1 2017 2017