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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
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Genes at Omim

ASS1, CDK5RAP2, DNM1, EHMT1, GABBR2, GALT, GLDC, GRIN1, KCNT1, LAMC3, MAN1B1, PAX5, SLC1A1, SMARCA2, SPTAN1,
ASS1 Citrullinemia, 215700 (3)
CDK5RAP2 Microcephaly 3, primary, autosomal recessive, 604804 (3)
DNM1 Epileptic encephalopathy, early infantile, 31, 616346 (3)
EHMT1 Kleefstra syndrome 1, 610253 (3)
GABBR2 {Nicotine dependence, protection against}, 188890 (3)
{Nicotine dependence, susceptibility to}, 188890 (3)
Epileptic encephalopathy, early infantile, 59, 617904 (3)
Neurodevelopmental disorder with poor language and loss of hand skills, 617903 (3)
GALT Galactosemia, 230400 (3)
GLDC Glycine encephalopathy, 605899 (3)
GRIN1 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3)
KCNT1 Epilepsy, nocturnal frontal lobe, 5, 615005 (3)
Epileptic encephalopathy, early infantile, 14, 614959 (3)
LAMC3 Cortical malformations, occipital, 614115 (3)
MAN1B1 Mental retardation, autosomal recessive 15, 614202 (3)
PAX5 {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
SLC1A1 Dicarboxylic aminoaciduria, 222730 (3)
{?Schizophrenia susceptibility 18}, 615232 (3)
SMARCA2 Nicolaides-Baraitser syndrome, 601358 (3)
SPTAN1 Epileptic encephalopathy, early infantile, 5, 613477 (3)

Genes at Clinical Genomics Database

ASS1, CDK5RAP2, DNM1, EHMT1, GALT, GLDC, GRIN1, KCNT1, LAMC3, MAN1B1, PAX5, SLC1A1, SMARCA2, SPTAN1,
ASS1 Citrullinemia
CDK5RAP2 Microcephaly, primary autosomal recessive, 3
DNM1 Epileptic encephalopathy, early infantile 31
EHMT1 Kleefstra syndrome
GALT Galactosemia
GLDC Glycine encephalopathy
GRIN1 Mental retardation, autosomal dominant 8
KCNT1 Epilepsy, nocturnal frontal lobe, 5
Early infantile epileptic encephalopathy 14
LAMC3 Cortical malformations, occipital
MAN1B1 Mental retardation, autosomal recessive 15
PAX5 Pre-B cell acute lymphoblastic leukemia
SLC1A1 Dicarboxylic aminoaciduria
SMARCA2 Nicolaides-Baraitser syndrome
SPTAN1 Epileptic encephalopathy, early infantile, 5

Genes at HGMD

Summary

Number of Variants: 251
Number of Genes: 16

Export to: CSV

ASS1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs10901072
dbSNP Clinvar
133346226 2141.77 C T . 1/1 67 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10723 0.10720 0.12402 None None None None None None ASS1|0.463790404|17.47%

BRD3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs464826
dbSNP Clinvar
136913355 691.77 T C . 0/1 34 SYNONYMOUS_CODING LOW None 0.72504 0.72500 0.29230 None None None None None None BRD3|0.108368545|49.49%

CDK5RAP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs4836822
dbSNP Clinvar
123291036 1172.77 C G . 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.80112 0.80110 0.15162 0.06 0.67 2.31 None None None None None None CDK5RAP2|0.080331777|55.08%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2501727
dbSNP Clinvar
123220829 967.77 A G . 0/1 71 SYNONYMOUS_CODING LOW None 0.23283 0.23280 0.18407 None None None None None None CDK5RAP2|0.080331777|55.08%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs3750494
dbSNP Clinvar
123301346 1159.77 T G . 0/1 87 SYNONYMOUS_CODING LOW None 0.11661 0.11660 0.06028 None None None None None None CDK5RAP2|0.080331777|55.08%

DNM1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2229917
dbSNP Clinvar
130980937 852.77 G A . 0/1 62 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10124 0.10120 0.12125 None None None None None None DNM1|0.556141328|13.49%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs3003609
dbSNP Clinvar
130984755 969.77 C T . 0/1 61 SYNONYMOUS_CODING LOW None 0.45467 0.45470 0.40428 None None None None None None DNM1|0.556141328|13.49%

EHMT1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs45450992
dbSNP Clinvar
140648742 701.77 C T . 0/1 56 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.05651 0.05651 0.07820 None None None None None None EHMT1|0.048999784|62.96%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs3812497
dbSNP Clinvar
140611436 876.77 T C . 0/1 63 SYNONYMOUS_CODING LOW None 0.22784 0.22780 0.22078 None None None None None None EHMT1|0.048999784|62.96%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs1129768
dbSNP Clinvar
140638461 623.77 T C . 0/1 48 SYNONYMOUS_CODING LOW None 0.46885 0.46880 0.49616 None None None None None None EHMT1|0.048999784|62.96%

GABBR2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2808536
dbSNP Clinvar
101340301 2669.77 A C . 1/1 79 SYNONYMOUS_CODING LOW None 0.73103 0.73100 0.21090 None None None None None None GABBR2|0.519790848|15.02%

GALT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2070074
dbSNP Clinvar
34649442 684.77 A G . 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.07288 0.07288 0.07151 1.00 0.00 0.95 None None None None None None GALT|0.258615009|30.87%

GLDC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs13289273
dbSNP Clinvar
6620216 1335.77 C T . 0/1 82 SYNONYMOUS_CODING LOW None 0.02975 0.02975 0.06751 None None None None None None GLDC|0.25815224|30.92%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs12341698
dbSNP Clinvar
6645251 621.77 C T . 0/1 48 SYNONYMOUS_CODING LOW None 0.24920 0.24920 0.20852 None None None None None None GLDC|0.25815224|30.92%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs35374927
dbSNP Clinvar
6610326 1142.77 C T . 0/1 75 SYNONYMOUS_CODING LOW None 0.19209 0.19210 0.23620 None None None None None None GLDC|0.25815224|30.92%

GRIN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs1126442
dbSNP Clinvar
140051376 1034.77 G A . 0/1 75 SYNONYMOUS_CODING LOW None 0.13958 0.13960 0.23336 None None None None None None GRIN1|0.134172601|45.24%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs6293
dbSNP Clinvar
140051238 696.77 A G . 0/1 45 SYNONYMOUS_CODING LOW None 0.14078 0.14080 0.23086 None None None None None None GRIN1|0.134172601|45.24%

KCNT1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs17038714
dbSNP Clinvar
138662273 917.77 G A . 0/1 61 SYNONYMOUS_CODING LOW None 0.35543 0.35540 0.29668 None None None None None None KCNT1|0.089485146|53.34%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs914428
dbSNP Clinvar
138669261 1133.77 G A . 0/1 70 SYNONYMOUS_CODING LOW None 0.65216 0.65220 0.36506 None None None None None None KCNT1|0.089485146|53.34%

LAMC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs3739512
dbSNP Clinvar
133884820 746.77 T G . 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.65595 0.65600 0.43405 0.46 0.00 0.83 None None None None None None LAMC3|0.028908459|69.93%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2293518
dbSNP Clinvar
133914570 754.77 G A . 0/1 56 SYNONYMOUS_CODING LOW None 0.15495 0.15500 0.20652 None None None None None None LAMC3|0.028908459|69.93%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs869457
dbSNP Clinvar
133924451 690.77 C T . 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.25859 0.25860 0.27311 0.26 0.07 0.29 None None None None None None LAMC3|0.028908459|69.93%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs10901333
dbSNP Clinvar
133927878 669.77 A G . 0/1 52 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.47125 0.47120 0.49500 0.10 0.07 2.44 None None None None None None LAMC3|0.028908459|69.93%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs12349966
dbSNP Clinvar
133928345 961.77 C T . 0/1 76 SYNONYMOUS_CODING LOW None 0.47983 0.47980 0.49100 None None None None None None LAMC3|0.028908459|69.93%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2275131
dbSNP Clinvar
133911706 846.77 C T . 0/1 76 SYNONYMOUS_CODING LOW None 0.39836 0.39840 0.39668 None None None None None None LAMC3|0.028908459|69.93%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs3739510
dbSNP Clinvar
133936571 952.77 C G . 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.13488 1.00 0.00 1.17 None None None None None None LAMC3|0.028908459|69.93%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs34652877
dbSNP Clinvar
133942558 924.77 C T . 0/1 84 SYNONYMOUS_CODING LOW None 0.01018 0.01018 0.02230 None None None None None None LAMC3|0.028908459|69.93%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs10901344
dbSNP Clinvar
133946909 825.77 G A . 0/1 62 SYNONYMOUS_CODING LOW None 0.29293 0.29290 0.33485 None None None None None None LAMC3|0.028908459|69.93%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs10901345
dbSNP Clinvar
133946915 883.77 C G . 0/1 62 SYNONYMOUS_CODING LOW None 0.29313 0.29310 0.33485 None None None None None None LAMC3|0.028908459|69.93%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2275132
dbSNP Clinvar
133911598 878.77 A G . 0/1 69 SYNONYMOUS_CODING LOW None 0.84824 0.84820 0.12883 None None None None None None LAMC3|0.028908459|69.93%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs4740412
dbSNP Clinvar
133963008 823.77 G A . 0/1 48 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.16334 0.16330 0.20345 1.00 0.00 0.39 None None None None None None LAMC3|0.028908459|69.93%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2275140
dbSNP Clinvar
133948049 525.77 A G . 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.69908 0.69910 0.23243 0.72 0.00 -0.18 None None None None None None LAMC3|0.028908459|69.93%

MAN1B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs12000517
dbSNP Clinvar
140002187 1287.77 C T . 1/1 43 SYNONYMOUS_CODING LOW None 0.25479 0.25480 None None None None None None MAN1B1|0.008207099|82.46%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs4880091
dbSNP Clinvar
140002989 2452.77 T C . 1/1 77 None None None 0.80990 0.80990 0.18084 None None None None None None MAN1B1|0.008207099|82.46%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs968733
dbSNP Clinvar
139981627 1530.77 A G . 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.90535 0.90540 0.08584 1.00 0.00 -1.01 None None None None None None MAN1B1|0.008207099|82.46%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs11790092
dbSNP Clinvar
140002261 1671.77 A G . 1/1 49 SYNONYMOUS_CODING LOW None 0.17113 0.17110 None None None None None None MAN1B1|0.008207099|82.46%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs10117795
dbSNP Clinvar
140002220 1249.77 A G . 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.78554 0.78550 0.02 0.00 -0.06 None None None None None None MAN1B1|0.008207099|82.46%

PAX5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs376375916
dbSNP Clinvar
36923395 861.77 G A . 0/1 48 SYNONYMOUS_CODING LOW None None None None None None None PAX5|0.967915764|1.77%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs3780135
dbSNP Clinvar
36840623 771.77 G A . 1/1 24 SYNONYMOUS_CODING LOW None 0.74201 0.74200 0.23688 -0.04 None None None None None None PAX5|0.967915764|1.77%

SLC1A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2228622
dbSNP Clinvar
4564432 660.77 G A . 0/1 45 SYNONYMOUS_CODING LOW None 0.32828 0.32830 0.35637 None None None None None None SLC1A1|0.254280296|31.18%,SPATA6L|0.02025056|74.04%

SMARCA2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs6601
dbSNP Clinvar
2116037 998.77 G A . 0/1 61 SYNONYMOUS_CODING LOW None 0.23542 0.23540 0.26803 None None None None None None None
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs13288443
dbSNP Clinvar
2073292 1265.77 A G . 0/1 76 SYNONYMOUS_CODING LOW None 0.10743 0.10740 0.11879 None None None None None None None

SPTAN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2227862
dbSNP Clinvar
131379967 2138.77 C T . 1/1 63 SYNONYMOUS_CODING LOW None 0.61701 0.61700 0.26718 None None None None None None SPTAN1|0.694942404|8.65%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs10760566
dbSNP Clinvar
131346218 2487.77 A C . 1/1 76 SYNONYMOUS_CODING LOW None 0.96985 0.96980 0.02991 None None None None None None SPTAN1|0.694942404|8.65%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs1415568
dbSNP Clinvar
131375701 2355.77 A G . 1/1 72 SYNONYMOUS_CODING LOW None 0.98482 0.98480 0.01461 None None None None None None SPTAN1|0.694942404|8.65%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2227864
dbSNP Clinvar
131360750 2466.77 C T . 1/1 72 SYNONYMOUS_CODING LOW None 0.64277 0.64280 0.23958 None None None None None None SPTAN1|0.694942404|8.65%
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs11272867
dbSNP Clinvar
35061693 5601.73 G GA... . 1/1 74 None None None 0.40835 0.40830 None None None None None None VCP|0.893080702|3.59%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs514492
dbSNP Clinvar
35062972 2272.77 C T . 1/1 66 None None None 0.70108 0.70110 0.24058 None None None None None None VCP|0.893080702|3.59%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs35504855,rs398010682
dbSNP Clinvar
35066579 292.73 T TA . 1/1 23 None None None 0.38059 0.38060 None None None None None None VCP|0.893080702|3.59%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs10972300
dbSNP Clinvar
35068201 1188.77 C T . 0/1 61 None None None 0.17033 0.17030 0.18353 None None None None None None VCP|0.893080702|3.59%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2297105
dbSNP Clinvar
37020622 1676.77 A C . 1/1 50 None None None 0.55172 0.55170 0.46940 None None None None None None PAX5|0.967915764|1.77%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs143723948
dbSNP Clinvar
37034095 69.77 C T . 0/1 12 None None None 0.00060 0.49660 None None None None None None PAX5|0.967915764|1.77%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2304388
dbSNP Clinvar
101151307 426.77 A T . 0/1 39 None None None 0.10383 0.10380 0.09995 None None None None None None GABBR2|0.519790848|15.02%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs724890
dbSNP Clinvar
101151382 111.77 C T . 0/1 18 None None None 0.21845 0.21850 None None None None None None GABBR2|0.519790848|15.02%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2779547
dbSNP Clinvar
101243021 342.78 T C . 1/1 9 None None None 0.78415 0.78410 None None None None None None GABBR2|0.519790848|15.02%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2808557
dbSNP Clinvar
101243364 1348.77 T G . 1/1 38 None None None 0.76578 0.76580 None None None None None None GABBR2|0.519790848|15.02%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs1000440
dbSNP Clinvar
101258881 557.77 T C . 0/1 35 None None None 0.49101 0.49100 None None None None None None GABBR2|0.519790848|15.02%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2184026
dbSNP Clinvar
101304348 777.77 C T . 0/1 58 None None None 0.24641 0.24640 0.16216 None None None None None None GABBR2|0.519790848|15.02%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs3750343
dbSNP Clinvar
101340425 1645.77 A G . 1/1 44 None None None 0.55092 0.55090 None None None None None None GABBR2|0.519790848|15.02%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2808537
dbSNP Clinvar
101340440 1377.77 A G . 1/1 37 None None None 0.69529 0.69530 None None None None None None GABBR2|0.519790848|15.02%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs4577
dbSNP Clinvar
104184022 790.77 G A . 0/1 60 None None None 0.44189 0.44190 None None None None None None ALDOB|0.494696623|16.09%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs682
dbSNP Clinvar
104187020 100.77 C T . 0/1 9 None None None 0.51617 0.51620 None None None None None None ALDOB|0.494696623|16.09%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs681
dbSNP Clinvar
104187041 102.77 A G . 0/1 10 None None None 0.55152 0.55150 None None None None None None ALDOB|0.494696623|16.09%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs506571
dbSNP Clinvar
104187400 316.77 A G . 0/1 19 None None None 0.45008 0.45010 None None None None None None ALDOB|0.494696623|16.09%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs1929480
dbSNP Clinvar
104189680 391.77 T G . 0/1 32 None None None 0.16034 0.16030 None None None None None None ALDOB|0.494696623|16.09%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs16909739
dbSNP Clinvar
123166107 109.77 A G . 0/1 7 None None None 0.03554 0.03554 None None None None None None CDK5RAP2|0.080331777|55.08%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs201128059
dbSNP Clinvar
123205755 491.73 CT C . 0/1 20 None None None 0.00359 0.00359 None None None None None None CDK5RAP2|0.080331777|55.08%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs3003574
dbSNP Clinvar
130981145 205.84 T A . 1/1 6 None None None 0.87540 0.87540 None None None None None None DNM1|0.556141328|13.49%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2490594
dbSNP Clinvar
123249744 789.77 A C . 0/1 50 None None None 0.21046 0.21050 0.16325 None None None None None None CDK5RAP2|0.080331777|55.08%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2095064
dbSNP Clinvar
123280950 902.77 T C . 0/1 60 None None None 0.79573 0.79570 0.16308 None None None None None None CDK5RAP2|0.080331777|55.08%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs41305509
dbSNP Clinvar
123290996 1187.77 C A . 0/1 75 None None None 0.14697 0.14700 0.09580 None None None None None None CDK5RAP2|0.080331777|55.08%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs60645195,rs796859613
dbSNP Clinvar
123307915 829.73 GA G . 0/1 68 None None None 0.11342 0.11340 None None None None None None CDK5RAP2|0.080331777|55.08%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs10739564
dbSNP Clinvar
123308276 219.84 T C . 1/1 6 None None None 0.96586 0.96590 None None None None None None CDK5RAP2|0.080331777|55.08%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs954214
dbSNP Clinvar
123313246 299.77 T C . 0/1 40 None None None 0.79992 0.79990 None None None None None None CDK5RAP2|0.080331777|55.08%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs4837782
dbSNP Clinvar
123330813 213.77 T C . 0/1 14 None None None 0.82328 0.82330 None None None None None None CDK5RAP2|0.080331777|55.08%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs932975
dbSNP Clinvar
123342259 2071.77 C A . 1/1 61 None None None 0.98043 0.98040 0.02622 None None None None None None CDK5RAP2|0.080331777|55.08%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs932974
dbSNP Clinvar
123342275 1805.77 A G . 1/1 54 None None None 0.96546 0.96550 0.04121 None None None None None None CDK5RAP2|0.080331777|55.08%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs7036307
dbSNP Clinvar
130425777 293.78 C T . 1/1 9 None None None 0.99401 0.99400 None None None None None None STXBP1|0.391277269|21.32%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs955159772
dbSNP Clinvar
130435355 745.77 G A . 0/1 48 None None None None None None None None None STXBP1|0.391277269|21.32%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs4836575
dbSNP Clinvar
130446493 671.77 A G . 1/1 18 None None None 0.00439 0.00439 None None None None None None STXBP1|0.391277269|21.32%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs3003602
dbSNP Clinvar
130981064 596.77 C T . 1/1 20 None None None 0.61482 0.61480 None None None None None None DNM1|0.556141328|13.49%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs3003606
dbSNP Clinvar
130982416 894.77 C T . 0/1 57 None None None 0.46326 0.46330 0.41266 None None None None None None DNM1|0.556141328|13.49%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs3003608
dbSNP Clinvar
130984430 779.77 C A . 0/1 61 None None None 0.58127 0.58130 0.46848 None None None None None None DNM1|0.556141328|13.49%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs3003612
dbSNP Clinvar
130988616 39.77 C T . 0/1 3 None None None 0.50379 0.50380 None None None None None None DNM1|0.556141328|13.49%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs3003578
dbSNP Clinvar
130994179 625.77 C T . 1/1 21 None None None 0.45587 0.45590 None None None None None None DNM1|0.556141328|13.49%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs3003617
dbSNP Clinvar
131008479 84.28 A G . 1/1 3 None None None 0.99381 0.99380 None None None None None None DNM1|0.556141328|13.49%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2267958
dbSNP Clinvar
131015279 405.77 G A . 1/1 14 None None None 0.37760 0.37760 None None None None None None DNM1|0.556141328|13.49%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2152833
dbSNP Clinvar
131331320 499.77 C T . 1/1 14 None None None 0.61921 0.61920 None None None None None None SPTAN1|0.694942404|8.65%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2297767
dbSNP Clinvar
131337302 206.84 C T . 1/1 6 None None None 0.95248 0.95250 None None None None None None SPTAN1|0.694942404|8.65%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2297768
dbSNP Clinvar
131337389 935.77 C T . 1/1 29 None None None 0.62041 0.62040 None None None None None None SPTAN1|0.694942404|8.65%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs2297769
dbSNP Clinvar
131337661 2056.77 A C . 1/1 55 None None None 0.95148 0.95150 0.03129 None None None None None None SPTAN1|0.694942404|8.65%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs4837280
dbSNP Clinvar
131340306 838.77 A G . 1/1 23 None None None 0.96985 0.96980 None None None None None None SPTAN1|0.694942404|8.65%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs1890103
dbSNP Clinvar
131340639 462.77 T C . 1/1 12 None None None 0.00439 0.00439 None None None None None None SPTAN1|0.694942404|8.65%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs4384085
dbSNP Clinvar
131344578 549.77 G A . 1/1 15 None None None 0.99820 0.99820 None None None None None None SPTAN1|0.694942404|8.65%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs5900808,rs796749122
dbSNP Clinvar
131344607 993.73 GA G . 1/1 28 None None None 0.95148 0.95150 None None None None None None SPTAN1|0.694942404|8.65%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs4240431
dbSNP Clinvar
131346479 529.77 A G . 1/1 14 None None None 0.97324 0.97320 None None None None None None SPTAN1|0.694942404|8.65%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs4836615
dbSNP Clinvar
131347165 1040.77 G A . 1/1 31 None None None 0.96905 0.96900 0.03083 None None None None None None SPTAN1|0.694942404|8.65%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs4837284
dbSNP Clinvar
131347169 993.77 C T . 1/1 29 None None None 0.61921 0.61920 0.26672 None None None None None None SPTAN1|0.694942404|8.65%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs7026966
dbSNP Clinvar
131349713 449.77 A G . 1/1 12 None None None 0.97005 0.97000 None None None None None None SPTAN1|0.694942404|8.65%
View dossier4-di450-2-b00h4r3_hg19_snp annot 9 rs7027388
dbSNP Clinvar
131349773 1018.77 G A . 1/1 28 None None None 0.94928 0.94930 None None None None None None SPTAN1|0.694942404|8.65%