Source: CURATED ×
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: rs1555144459
rs1555144459
PKP2
3 0.925 0.120 12 32841038 frameshift variant -/A delins 0.700 1.000 3 2004 2012
dbSNP: rs1555740394
rs1555740394
PRR12
5 0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins 0.700 0
dbSNP: rs1553920379
rs1553920379
PPP3CA
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs1555565492
rs1555565492
RAI1
18 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
dbSNP: rs1566823361
rs1566823361
FGF14
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs1555640521
rs1555640521
LAMA1
15 0.790 0.320 18 6942110 frameshift variant A/- delins 0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
13 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
dbSNP: rs10185592
rs10185592
LOC105373847
1 1.000 0.040 2 205829457 intergenic variant A/C snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs6452305
rs6452305 		1 1.000 0.040 5 25924513 intergenic variant A/C snv 0.69 0.700 1.000 1 2009 2009
dbSNP: rs9302952
rs9302952
SLC39A11
1 1.000 0.040 17 73068087 non coding transcript exon variant A/C snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs3797817
rs3797817
FER
1 1.000 0.040 5 108948641 intron variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs876660634
rs876660634
PTEN
10 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 0
dbSNP: rs757511770
rs757511770
FMN2
9 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs7741604
rs7741604
CDKAL1
2 0.925 0.120 6 20731293 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs11102807
rs11102807 		1 1.000 0.040 1 114518963 intergenic variant A/G snv 0.44 0.800 1.000 1 2014 2014
dbSNP: rs12518194
rs12518194 		1 1.000 0.040 5 25951452 intergenic variant A/G snv 0.27 0.700 1.000 1 2009 2009
dbSNP: rs1408744
rs1408744 		1 1.000 0.040 6 23789887 intergenic variant A/G snv 0.63 0.700 1.000 1 2012 2012
dbSNP: rs263030
rs263030
YEATS2 ; YEATS2-AS1
1 1.000 0.040 3 183807333 non coding transcript exon variant A/G snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs263035
rs263035
YEATS2
1 1.000 0.040 3 183805869 intron variant A/G snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs409649
rs409649 		1 1.000 0.040 5 25841054 intergenic variant A/G snv 0.29 0.700 1.000 1 2009 2009
dbSNP: rs4701259
rs4701259 		1 1.000 0.040 5 25900989 intergenic variant A/G snv 0.71 0.700 1.000 1 2009 2009
dbSNP: rs6053022
rs6053022
SLC23A2
1 1.000 0.040 20 4992810 intron variant A/G snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs6537825
rs6537825
TRIM33
1 1.000 0.040 1 114405659 missense variant A/G snv 0.88 0.92 0.800 1.000 1 2014 2014