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: rs985676
rs985676
MARCHF1
1 4 164156960 intron variant T/C snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs17044630
rs17044630
MARCHF1
1 4 164157441 intron variant T/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs11930019
rs11930019
MARCHF1
1 4 164159224 intron variant T/C snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs11943491
rs11943491
MARCHF1
1 4 164159378 intron variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs9991538
rs9991538
MARCHF1
1 4 164159680 intron variant T/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs10002082
rs10002082
MARCHF1
1 4 164159753 intron variant A/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs11931264
rs11931264
MARCHF1
1 4 164160251 intron variant T/C snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs1120384
rs1120384
MARCHF1
1 4 164161744 intron variant G/A snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs1431001
rs1431001
MARCHF1
1 4 164164637 intron variant A/T snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs1430999
rs1430999
MARCHF1
1 4 164164750 intron variant G/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs1430998
rs1430998
MARCHF1
1 4 164164966 intron variant A/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs13435288
rs13435288
MARCHF1
1 4 164169729 intron variant A/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs17044711
rs17044711
MARCHF1
1 4 164172004 intron variant C/T snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs10517800
rs10517800
MARCHF1
1 4 164174438 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7673540
rs7673540
MARCHF1
1 4 164177450 intron variant G/A snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs7659131
rs7659131
MARCHF1
1 4 164180839 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1835507
rs1835507
MARCHF1
1 4 164190521 intron variant A/G snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs114821210
rs114821210 		3 1.000 0.040 5 166089843 intergenic variant C/A snv 6.0E-03 0.700 1.000 1 2019 2019
dbSNP: rs9647379
rs9647379
FNDC3B
2 3 172067378 intron variant G/C snv 0.32 0.800 1.000 1 2013 2013
dbSNP: rs6882776
rs6882776
NKX2-5
2 1.000 0.080 5 173237160 upstream gene variant G/A snv 0.34 0.800 1.000 1 2013 2013
dbSNP: rs13413635
rs13413635
PDE11A
1 2 177815704 intron variant A/G snv 0.30 0.800 1.000 1 2013 2013
dbSNP: rs17362588
rs17362588
CCDC141
2 2 178856319 missense variant G/A snv 6.0E-02 6.1E-02 0.800 1.000 1 2013 2013
dbSNP: rs79146658
rs79146658
CCDC141 ; LOC105373766
2 2 178921341 intron variant T/C snv 5.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs7612445
rs7612445 		3 1.000 0.080 3 179455191 upstream gene variant G/T snv 0.24 0.800 1.000 1 2013 2013
dbSNP: rs61823501
rs61823501
C1orf21
3 1.000 0.040 1 184396836 intron variant C/T snv 0.12 0.700 1.000 1 2019 2019