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Genes at Omim

ADRA2B, AKAP9, ASPN, ATN1, ATXN1, ATXN7, EPHX2, FOXC1, HADHB, LOR, MN1, PCDH12, PCLO, POLG, TBP, WDR66,
ADRA2B Epilepsy, myoclonic, familial adult, 2, 607876 (3)
AKAP9 ?Long QT syndrome-11, 611820 (3)
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
ATXN7 Spinocerebellar ataxia 7, 164500 (3)
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
FOXC1 Anterior segment dysgenesis 3, multiple subtypes, 601631 (3)
Axenfeld-Rieger syndrome, type 3, 602482 (3)
HADHB Trifunctional protein deficiency, 609015 (3)
LOR Vohwinkel syndrome with ichthyosis, 604117 (3)
MN1 Meningioma, 607174 (3)
PCDH12 Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCLO ?Pontocerebellar hypoplasia, type 3, 608027 (3)
POLG Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)
Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3)
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3)
Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3)
Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
WDR66 Spermatogenic failure 33, 618152 (3)

Genes at Clinical Genomics Database

AKAP9, ATN1, ATXN1, ATXN7, FOXC1, HADHB, LOR, MN1, POLG, TBP,
AKAP9 Long QT syndrome 11
ATN1 Dentatorubro-pallidoluysian atrophy
ATXN1 Spinocerebellar ataxia 1
ATXN7 Spinocerebellar ataxia 7
FOXC1 Peters anomaly
Axenfeld-Rieger syndrome, type 3
Iridogoiodysgenesis, type 1
HADHB Trifunctional protein deficiency
LOR Vohwinkel syndrome, variant form
MN1 Meningioma, familial
POLG Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4B
Sensory ataxia, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4A (Alpers type)
Alpers syndrome
POLG-related ataxia neuropathy spectrum disorders
TBP Spinocerebellar ataxia 17

Genes at HGMD

Summary

Number of Variants: 77
Number of Genes: 74

Export to: CSV
  • Page 1 of 1

AC074212.3

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 gird-c1a filtered variants 19 rs139434566
dbSNP Clinvar
46265047 375.78 A AT... PASS 1/1 8 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None None

AC104667.3

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 gird-c1a filtered variants 2 rs146534321
dbSNP Clinvar
238499863 1409.77 A AA... PASS 1/1 28 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.51637 0.51640 None None None None None None RAB17|0.004320407|86.57%

ADRA2B

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 gird-c1a filtered variants 2 rs34667759,rs28365031,rs29000568
dbSNP Clinvar
96780986 3420.77 C CT... PASS 1/1 74 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.24860 0.47060 0.29666 None None None None None None ADRA2B|0.088340463|53.59%

AKAP12

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 gird-c1a filtered variants 6 rs3842128,rs113116275,rs34338625
dbSNP Clinvar
151674116 11570.77 T TGAG PASS 1/1 254 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.70387 0.70390 0.22056 None None None None None None AKAP12|0.001631589|92.22%

AKAP9

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 gird-c1a filtered variants 7 rs10644111,rs397825978
dbSNP Clinvar
91652178 349.77 A AAAC PASS 0/1 24 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.42472 0.42470 0.47907 None None None None None None AKAP9|0.267262044|30.07%

ASPN

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 gird-c1a filtered variants 9 . 95237024 2103.77 C CT... PASS 1/2 43 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%

ATN1

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 gird-c1a filtered variants 12 . 7045891 1776.77 ACAG A,... PASS 1/2 47 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ATN1|0.702926343|8.41%

ATXN1

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 gird-c1a filtered variants 6 rs864309555
dbSNP Clinvar
16327915 325.77 A ATGC PASS 0/1 19 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ATXN1|0.832563526|5.05%
View gird-c1a filtered variants 6 rs780549091
dbSNP Clinvar
16327903 117.77 C CTGA PASS 0/1 34 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ATXN1|0.832563526|5.05%

ATXN7

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 gird-c1a filtered variants 3 rs576518931
dbSNP Clinvar
63898360 49.77 G GGCA PASS 0/1 3 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.01438 0.02137 None None None None None None ATXN7|0.45901663|17.72%

BCL6B

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 gird-c1a filtered variants 17 rs146207245,rs72254884
dbSNP Clinvar
6928019 930.77 C CCAG PASS 1/1 24 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.66234 0.66230 None None None None None None BCL6B|0.213572706|35.16%

C11orf80

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 gird-c1a filtered variants 11 rs71045961
dbSNP Clinvar
66512290 429.77 G GGGC PASS 1/1 10 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.35174 None None None None None None C11orf80|0.023109956|72.63%

C18orf25

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 gird-c1a filtered variants 18 rs34068795,rs397790301
dbSNP Clinvar
43833701 1194.77 T TCTG PASS 1/1 27 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.69269 0.69270 None None None None None None C18orf25|0.503978181|15.65%

CBX4

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 gird-c1a filtered variants 17 rs754126884
dbSNP Clinvar
77807917 1465.77 T TG... PASS 0/1 75 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.07301 None None None None None None CBX4|0.061366203|59.47%

CELSR2

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 gird-c1a filtered variants 1 rs144034706,rs59201433
dbSNP Clinvar
109792735 879.77 A ACGC PASS 0/1 39 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.56829 0.56830 0.37763 None None None None None None CELSR2|0.181244223|38.88%

DCP1B

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 gird-c1a filtered variants 12 rs149912567,rs749249960,rs111543431,rs71057810
dbSNP Clinvar
2062323 1749.77 T TTGC PASS 0/1 91 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None DCP1B|0.012911973|78.55%

DNHD1

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 gird-c1a filtered variants 11 . 6567895 4328.77 C CT... PASS 1/1 91 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.99421 0.06595 None None None None None None DNHD1|0.019835865|74.26%

EP400

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 gird-c1a filtered variants 12 . 132547093 1942.98 A ACAG PASS 1/1 53 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.37320 None None None None None None EP400|0.051215115|62.27%

EPHX2

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 gird-c1a filtered variants 8 rs71553864,rs71220599
dbSNP Clinvar
27394334 1134.77 A AGTC PASS 0/1 62 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.02316 0.02316 0.04330 None None None None None None EPHX2|0.350156856|24.1%

FADS6

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 gird-c1a filtered variants 17 . 72889676 5909.77 G GG... PASS 1/1 93 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None FADS6|0.029483585|69.62%

FAM120C

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 gird-c1a filtered variants X rs781789688
dbSNP Clinvar
54209302 271.79 G GG... PASS 1/1 7 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.00079 0.02040 None None None None None None FAM120C|0.175300288|39.59%

FAM171B

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 gird-c1a filtered variants 2 rs549897920
dbSNP Clinvar
187559029 752.77 A ACAG PASS 0/1 66 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.17272 0.18950 None None None None None None FAM171B|0.143209943|43.96%
View gird-c1a filtered variants 2 rs144403657,rs71017336
dbSNP Clinvar
187559047 1790.77 G GCAA PASS 0/1 78 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.51957 0.51960 None None None None None None FAM171B|0.143209943|43.96%

FAM90A1

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 gird-c1a filtered variants 12 rs71265055
dbSNP Clinvar
8374781 4696.77 C CACG PASS 1/1 105 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.43271 0.43270 0.47518 None None None None None None FAM90A1|0.000638586|97.62%

FERD3L

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 gird-c1a filtered variants 7 rs71017023
dbSNP Clinvar
19184746 2595.77 C CTCT PASS 0/1 124 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.16693 0.16690 0.20123 None None None None None None FERD3L|0.185457241|38.31%

FOXC1

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 gird-c1a filtered variants 6 rs545470261,rs398123611,rs76840944
dbSNP Clinvar
1611802 218.84 G GGGC PASS 1/1 6 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.15216 0.15220 0.16011 None None None None None None FOXC1|0.68260094|9.01%
View gird-c1a filtered variants 6 rs572346201,rs398123612
dbSNP Clinvar
1612017 252.77 A ACGG PASS 0/1 11 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None FOXC1|0.68260094|9.01%

FOXF2

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 gird-c1a filtered variants 6 rs147426137,rs397731476,rs111257067,rs58230522
dbSNP Clinvar
1391085 133.77 G GGGC PASS 0/1 6 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.39277 0.39280 0.37182 None None None None None None FOXF2|0.273083947|29.64%

FZD1

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 gird-c1a filtered variants 7 rs139480179,rs71292991
dbSNP Clinvar
90894459 614.77 A ACCG PASS 0/1 37 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.37420 0.37420 0.38935 None None None None None None FZD1|0.727470296|7.75%

HADHB

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 gird-c1a filtered variants 2 rs3839049,rs59947000
dbSNP Clinvar
26477125 897.77 G GACT PASS 1/1 19 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.70947 0.70950 0.08686 None None None None None None HADHB|0.207953227|35.81%

HDAC2

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 gird-c1a filtered variants 6 rs545748113,rs528988883
dbSNP Clinvar
114292109 498.77 C CCTG PASS 0/1 47 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.07288 0.07288 None None None None None None HDAC2|0.998000079|0.56%

HEG1

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 gird-c1a filtered variants 3 . 124732419 1446.77 A AG... PASS 0/1 74 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None HEG1|0.04030264|65.66%

HRC

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 gird-c1a filtered variants 19 rs147238387,rs551367394,rs57199624
dbSNP Clinvar
49657889 1199.77 T TTCC PASS 0/1 64 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None HRC|0.0162712|76.28%

IFI27

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 gird-c1a filtered variants 14 rs3833507
dbSNP Clinvar
94582130 1604.77 T TG... PASS 1/1 30 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.65775 0.65770 0.34781 None None None None None None IFI27|0.001693986|91.92%

IGFBP2

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 gird-c1a filtered variants 2 rs571770573,rs11282764
dbSNP Clinvar
217498290 102.1 C CG... PASS 1/1 4 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.95228 0.95230 0.21212 None None None None None None IGFBP2|0.222468361|34.13%

KCNN2

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 gird-c1a filtered variants 5 rs151038013
dbSNP Clinvar
113698631 1469.77 T TGCC PASS 0/1 59 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.35385 None None None None None None KCNN2|0.504056199|15.63%

KDM6B

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 gird-c1a filtered variants 17 rs779500270,rs771743551
dbSNP Clinvar
7750177 316.79 T TA... PASS 1/1 8 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None KDM6B|0.170012096|40.32%

KIF20B

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 gird-c1a filtered variants 10 rs144593231,rs55921521
dbSNP Clinvar
91497902 747.77 C CT... PASS 0/1 56 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.35663 0.35660 0.30275 None None None None None None KIF20B|0.15949723|41.64%

LCE1F

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 gird-c1a filtered variants 1 rs766160595
dbSNP Clinvar
152749008 192.77 C CC... PASS 0/1 11 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None LCE1F|0.022998525|72.73%

LCE4A

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 gird-c1a filtered variants 1 rs6143428
dbSNP Clinvar
152681680 3010.77 C CA... PASS 1/1 59 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.00080 0.80050 None None None None None None LCE4A|0.003799402|87.31%

LINC00955

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 gird-c1a filtered variants 4 rs537957602,rs376169500
dbSNP Clinvar
3589669 815.77 G GA... PASS 0/1 105 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.30252 0.30250 None None None None None None LINC00955|0.001348255|93.6%

LNP1

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 gird-c1a filtered variants 3 rs71132521
dbSNP Clinvar
100170600 2676.77 A AT... PASS 0/1 74 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None LNP1|0.019558518|74.41%

LOR

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 gird-c1a filtered variants 1 . 153233488 231.77 C CG... PASS 0/1 16 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.19389 0.26653 None None None None None None LOR|0.059509519|60.04%

LSR

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 gird-c1a filtered variants 19 rs142507475,rs397751431
dbSNP Clinvar
35758275 4597.77 G GGGA PASS 1/1 103 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.32073 None None None None None None LSR|0.042036693|65.11%

LTF

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 gird-c1a filtered variants 3 rs10662431,rs55665884
dbSNP Clinvar
46501284 136.77 C CCTT PASS 0/1 5 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.99042 0.99040 0.02045 None None None None None None LTF|0.008447646|82.21%

MAGEF1

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 gird-c1a filtered variants 3 rs34995413,rs112819846,rs397720350
dbSNP Clinvar
184429133 4961.77 A ATCC PASS 1/1 106 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None MAGEF1|0.006287467|84.31%

MN1

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 gird-c1a filtered variants 22 rs774909676,rs71194738
dbSNP Clinvar
28194933 694.77 T TTGC PASS 0/1 32 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.08926 0.08926 None None None None None None MN1|0.17954661|39.09%

MUC3A

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 gird-c1a filtered variants 7 rs111723000,rs374888812
dbSNP Clinvar
100550032 4733.77 C CCCT PASS 0/1 308 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None MUC3A|0.001683398|91.94%

MUC4

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 gird-c1a filtered variants 3 rs142781032,rs71180965
dbSNP Clinvar
195518112 12090.77 T TG... PASS 1/1 241 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.72863 0.72860 0.25234 None None None None None None MUC4|0.005441696|85.29%

NOP9

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 gird-c1a filtered variants 14 rs113258190
dbSNP Clinvar
24769849 2406.77 A AGAG PASS 1/1 57 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None NOP9|0.084378166|54.34%

NR1H2

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 gird-c1a filtered variants 19 rs55652650,rs57917904,rs397738863
dbSNP Clinvar
50881820 2603.77 A AAAC PASS 0/1 154 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.54812 0.54810 0.20921 None None None None None None NR1H2|0.484472054|16.53%

OR7C2

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 gird-c1a filtered variants 19 rs3044711,rs397816267
dbSNP Clinvar
15052983 8412.77 T TATC PASS 1/1 186 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.99381 0.99380 0.01166 None None None None None None OR7C2|0.001466113|92.96%

PCDH12

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 gird-c1a filtered variants 5 rs5871792,rs762394243,rs59930617
dbSNP Clinvar
141324955 832.77 C CC... PASS 0/1 45 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.52276 0.52280 None None None None None None PCDH12|0.036957049|66.79%

PCDHA4

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 gird-c1a filtered variants 5 rs200172095
dbSNP Clinvar
140186981 544.77 G GACA PASS 1/1 11 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.34784 0.34780 None None None None None None PCDHA1|0.053770874|61.55%,PCDHA2|0.022057729|73.14%,PCDHA3|0.065561586|58.47%,PCDHA4|0.052208094|62.01%

PCGF6

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 gird-c1a filtered variants 10 rs113359610,rs60968810
dbSNP Clinvar
105110740 152.03 A AG... PASS 1/1 4 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.44649 0.44650 0.31420 None None None None None None PCGF6|0.176496571|39.45%

PCLO

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 gird-c1a filtered variants 7 rs10630259
dbSNP Clinvar
82581488 7398.77 T TTCA PASS 1/1 161 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.99401 0.99400 0.01408 None None None None None None PCLO|0.112401256|48.79%

PHF2

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 gird-c1a filtered variants 9 rs149736720
dbSNP Clinvar
96439004 862.77 C CC... PASS 1/1 20 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.47304 0.47300 0.33252 None None None None None None PHF2|0.081704166|54.82%

PNMAL2

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 gird-c1a filtered variants 19 rs147338403
dbSNP Clinvar
46997016 151.77 C CC... PASS 0/1 8 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.07967 0.07967 0.11891 None None None None None None PPP5D1|0.014760833|77.32%,PNMAL2|0.001162447|94.64%

PODXL

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 gird-c1a filtered variants 7 rs759639123,rs773840064,rs571821675,rs79759078
dbSNP Clinvar
131241029 652.77 G GG... PASS 0/1 39 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.25200 None None None None None None PODXL|0.000589481|97.98%

POLG

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 gird-c1a filtered variants 15 rs41550117
dbSNP Clinvar
89876827 1104.77 T TT... PASS 0/1 41 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None POLG|0.292132084|28.2%

POU4F2

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 gird-c1a filtered variants 4 rs530695040,rs772231658,rs5862765
dbSNP Clinvar
147560457 262.77 T TGGC PASS 0/1 14 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None POU4F2|0.829800839|5.08%

PPM1E

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 gird-c1a filtered variants 17 rs201186780
dbSNP Clinvar
56833457 7345.77 G GG... PASS 1/1 157 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.38898 0.38900 None None None None None None PPM1E|0.33176433|25.36%

REC8

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 gird-c1a filtered variants 14 rs10690822
dbSNP Clinvar
24646406 2841.77 G GGAA PASS 1/1 62 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.01692 None None None None None None REC8|0.030069397|69.37%

SF3A2

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 gird-c1a filtered variants 19 rs766036482
dbSNP Clinvar
2248152 211.77 T TG... PASS 0/1 9 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None SF3A2|0.0476964|63.42%

SH3BGR

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 gird-c1a filtered variants 21 rs3831201,rs111921581,rs397694871
dbSNP Clinvar
40883671 371.77 G GAGA PASS 0/1 22 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.44871 None None None None None None SH3BGR|0.025744385|71.44%

SLC28A1

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 gird-c1a filtered variants 15 rs151038463,rs17215836
dbSNP Clinvar
85438311 961.77 C CTTG PASS 1/1 22 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.25839 0.25840 0.30177 None None None None None None SLC28A1|0.017310732|75.67%

SSC5D

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 gird-c1a filtered variants 19 rs150781976,rs71181782,rs35104581
dbSNP Clinvar
56029616 2692.77 C CCCA PASS 1/1 59 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.38998 0.39000 0.31317 None None None None None None SSC5D|0.005210209|85.56%

SYNGR1

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 gird-c1a filtered variants 22 rs149306472
dbSNP Clinvar
39777822 1396.77 C CCAA PASS 0/1 76 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.86082 0.86080 0.25917 None None None None None None SYNGR1|0.100294024|51.11%

TBP

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 gird-c1a filtered variants 6 rs760309917
dbSNP Clinvar
170871049 64.77 G GCAA PASS 0/1 5 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None TBP|0.773041941|6.48%

TMEM37

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 gird-c1a filtered variants 2 rs3217464
dbSNP Clinvar
120194651 4608.77 A AG... PASS 1/1 101 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.89637 0.89640 0.11529 None None None None None None TMEM37|0.024253839|72.11%

TOX2

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 gird-c1a filtered variants 20 rs199841880,rs34604629
dbSNP Clinvar
42694558 595.77 C CCCG PASS 0/1 32 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.03514 0.03514 0.08052 None None None None None None TOX2|0.190676673|37.74%

TPRXL

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 gird-c1a filtered variants 3 rs768769317,rs59708448
dbSNP Clinvar
14106310 300.77 T TC... PASS 0/1 17 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None TPRXL|0.000462556|98.63%

TTLL3

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 gird-c1a filtered variants 3 rs34761997,rs5846648
dbSNP Clinvar
9852059 736.77 C CGAT PASS 1/1 15 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.81609 0.81610 None None None None None None ARPC4-TTLL3|0.367984481|22.86%,TTLL3|0.034571307|67.6%

USP40

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 gird-c1a filtered variants 2 rs141501074,rs59586144,rs397953463
dbSNP Clinvar
234429739 1409.77 T TTTC PASS 0/1 63 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.14956 0.14960 0.20765 None None None None None None USP40|0.035808402|67.19%

WDR66

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 gird-c1a filtered variants 12 rs142042908,rs1030446606
dbSNP Clinvar
122359397 1914.77 G GG... PASS 1/1 37 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None WDR66|0.006624265|83.92%

ZBTB33

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 gird-c1a filtered variants X rs201958171,rs781901311,rs59686094
dbSNP Clinvar
119387833 1869.77 C CTGA PASS 1/1 42 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.51444 0.51440 None None None None None None ZBTB33|0.393506803|21.17%

ZNF579

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 gird-c1a filtered variants 19 rs113850871,rs10643219
dbSNP Clinvar
56089908 133.77 C CCCG PASS 0/1 6 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.59884 0.59880 0.41077 None None None None None None ZNF579|0.011017337|80.06%
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