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Genes at Omim

AARS2, ADAR, ALG9, COL18A1, COL8A2, FBLN1, FLVCR1, FOXC1, FREM2, H6PD, HYDIN, LARP7, LRIT3, MOG, PRKG1, PRX, RRM2B, SALL1, SLC7A7, SON, SOX10, SOX2, TCF3, TGIF1, TH, WNK1,
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ADAR Aicardi-Goutieres syndrome 6, 615010 (3)
Dyschromatosis symmetrica hereditaria, 127400 (3)
ALG9 Congenital disorder of glycosylation, type Il, 608776 (3)
Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
COL8A2 Corneal dystrophy, Fuchs endothelial, 1, 136800 (3)
Corneal dystrophy, posterior polymorphous 2, 609140 (3)
FBLN1 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
FLVCR1 Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)
FOXC1 Anterior segment dysgenesis 3, multiple subtypes, 601631 (3)
Axenfeld-Rieger syndrome, type 3, 602482 (3)
FREM2 Fraser syndrome 2, 617666 (3)
H6PD Cortisone reductase deficiency 1, 604931 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
LARP7 Alazami syndrome, 615071 (3)
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)
MOG ?Narcolepsy 7, 614250 (3)
PRKG1 Aortic aneurysm, familial thoracic 8, 615436 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (3)
RRM2B Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3)
SALL1 Townes-Brocks branchiootorenal-like syndrome, 107480 (3)
Townes-Brocks syndrome 1, 107480 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (3)
SON ZTTK syndrome, 617140 (3)
SOX10 PCWH syndrome, 609136 (3)
Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)
Waardenburg syndrome, type 4C, 613266 (3)
SOX2 Microphthalmia, syndromic 3, 206900 (3)
Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 (3)
TCF3 Agammaglobulinemia 8, autosomal dominant, 616941 (3)
TGIF1 Holoprosencephaly 4, 142946 (3)
TH Segawa syndrome, recessive, 605407 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)

Genes at Clinical Genomics Database

AARS2, ADAR, ALG9, COL18A1, COL8A2, FBLN1, FLVCR1, FOXC1, FREM2, H6PD, LARP7, LRIT3, MOG, PRKG1, PRX, RRM2B, SALL1, SLC7A7, SOX10, SOX2, TCF3, TGIF1, TH, WNK1, ZNF480,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
ADAR Dyschromatosis symmetrica hereditaria
Aicardi-Goutieres syndrome 6
ALG9 Congenital disorder of glycosylation, type Il
COL18A1 Knobloch syndrome 1
COL8A2 Corneal dystrophy polymorphous posterior, 2
Corneal dystrophy, Fuchs endothelial, 1
FBLN1 Synpolydactyly 2
FLVCR1 Ataxia, posterior column, with retinitis pigmentosa
FOXC1 Peters anomaly
Axenfeld-Rieger syndrome, type 3
Iridogoiodysgenesis, type 1
FREM2 Fraser syndrome
H6PD Cortisone reductase deficiency
LARP7 Alazami syndrome
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive
MOG Narcolepsy 7
PRKG1 Aortic aneurysm, familial thoracic 8
PRX Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type 4F
RRM2B Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5
Mitochondrial DNA depletion syndrome 8A
Mitochondrial DNA depletion syndrome 8B
SALL1 Townes-Brocks syndrome
SLC7A7 Lysinuric protein intolerance
SOX10 Waardenburg syndrome, type 4C
Waardenburg syndrome, type 2E
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Hirschsprung disease, susceptibility to, 10
SOX2 Microphthalmia, syndromic 3
TCF3 Agammaglobulinemia 8, autosomal dominant
TGIF1 Holoprosencephaly 4
TH Segawa syndrome, autosomal recessive
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 130
Number of Genes: 127

Export to: CSV

AARS2

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 allfamilies AWK 6 rs771808127
dbSNP Clinvar
44269192 961.602 TC T,TT PASS 1/2 62 FRAME_SHIFT HIGH None None None None None None None TMEM151B|0.178433912|39.22%,AARS2|0.089485788|53.33%

ACBD3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWK 1 . 226352490 514.54 CT... CT... PASS 1/2 107 FRAME_SHIFT HIGH None None None None None None None ACBD3|0.308663424|26.94%

ADAM15

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 allfamilies AWK 1 . 155033907 47.78 GC G PASS 0/1 14 FRAME_SHIFT HIGH None None None None None None None ADAM15|0.077192579|55.85%

ADAR

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 allfamilies AWK 1 . 154574332 264.285 T TC PASS 0/1 23 FRAME_SHIFT HIGH None None None None None None None ADAR|0.149816666|43.06%

ADCK5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWK 8 rs148509143,rs563415390
dbSNP Clinvar
145617534 59.9 TG... T,... PASS 0/1 35 FRAME_SHIFT HIGH None 0.62700 0.62700 0.42097 None None None None None None ADCK5|0.009712798|81.05%

AK9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWK 6 . 109906329 220.18 GC... GC... PASS 1/1 12 FRAME_SHIFT HIGH None None None None None None None AK9|0.032678932|68.3%

ALG9

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 allfamilies AWK 11 rs10708475
dbSNP Clinvar
111742145 1228.93 CG C PASS 1/1 117 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

ANKRD30B

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 allfamilies AWK 18 . 14848820 1940.65 CG TG... PASS 1/1 76 FRAME_SHIFT HIGH None None None None None None None ANKRD30B|0.000995671|95.47%

AOAH

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 allfamilies AWK 7 rs57543920
dbSNP Clinvar
36552790 1110.12 G GT PASS 1/1 71 FRAME_SHIFT HIGH None 0.87740 0.87740 None None None None None None AOAH|0.05743156|60.58%

AQP12B

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 allfamilies AWK 2 rs201917032
dbSNP Clinvar
241621799 258.85 GC G PASS 0/1 80 FRAME_SHIFT HIGH None 0.23203 0.23200 0.19662 None None None None None None AQP12B|0.003305104|88.08%

ARHGEF11

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 allfamilies AWK 1 . 156931508 16.87 C CG PASS 0/1 32 FRAME_SHIFT HIGH None None None None None None None ARHGEF11|0.107056542|49.78%

C11orf40

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 allfamilies AWK 11 rs141600462
dbSNP Clinvar
4592706 354.701 T TAC PASS 0/1 217 FRAME_SHIFT HIGH None 0.42640 None None None None None None C11orf40|0.000863852|96.27%

C15orf32

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 allfamilies AWK 15 . 93015517 111.8 G GT PASS 0/1 194 FRAME_SHIFT HIGH None None None None None None None C15orf32|0.001308055|93.85%

C17orf47

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 allfamilies AWK 17 . 56621283 1685.75 CGGG CG... PASS 1/2 170 FRAME_SHIFT HIGH None None None None None None None C17orf47|0.004415017|86.48%

C4orf45

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 allfamilies AWK 4 . 159894304 930.304 CT C,CC PASS 1/2 78 FRAME_SHIFT HIGH None None None None None None None C4orf45|0.003496909|87.79%

C9orf173

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 allfamilies AWK 9 rs28376526
dbSNP Clinvar
140147152 86.75 C G,CG PASS 2/1 9 FRAME_SHIFT HIGH None 0.60982 0.60980 0.31119 None None None None None None C9orf173|0.002917649|88.78%

CALHM2

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 allfamilies AWK 10 rs200457105
dbSNP Clinvar
105209356 82.32 CAG C PASS 0/1 38 FRAME_SHIFT HIGH None 0.00399 0.00399 0.00903 None None None None None None CALHM2|0.171017325|40.18%

CARD8

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 allfamilies AWK 19 rs140826611,rs146319637
dbSNP Clinvar
48735017 159.29 C CTT PASS 0/1 129 FRAME_SHIFT HIGH None 0.04213 0.04213 0.04266 None None None None None None ZNF114|0.000389534|99%,CARD8|0.001005926|95.39%

CCDC150

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 allfamilies AWK 2 rs143904259
dbSNP Clinvar
197521468 332.28 CTG C PASS 0/1 185 FRAME_SHIFT HIGH None 0.01160 None None None None None None CCDC150|0.051856184|62.11%

CD6

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 allfamilies AWK 11 . 60785351 2946.0 CA C,CG PASS 0/1 268 FRAME_SHIFT HIGH None None None None None None None CD6|0.006908987|83.59%

CDC42EP1

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 allfamilies AWK 22 . 37962638 324.0 GC... GC... PASS 1/2 98 FRAME_SHIFT HIGH None None None None None None None CDC42EP1|0.088159393|53.62%

CDCP2

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 allfamilies AWK 1 rs36013100
dbSNP Clinvar
54605319 626.88 G GC PASS 0/1 103 FRAME_SHIFT HIGH None 0.47983 0.47980 None None None None None None CDCP2|0.053440915|61.64%

CEP112

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 allfamilies AWK 17 rs17704679
dbSNP Clinvar
64023624 196.069 T C,TC PASS 0/1 18 FRAME_SHIFT HIGH None 0.38099 0.38100 0.42548 None None None None None None CEP112|0.36305341|23.21%

CLECL1

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 allfamilies AWK 12 rs71045297,rs113222621
dbSNP Clinvar
9885707 754.29 A AT... PASS 1/1 96 FRAME_SHIFT HIGH None 0.54872 0.54870 0.43154 None None None None None None CLECL1|0.001440928|93.09%

COL18A1

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 allfamilies AWK 21 . 46924424 393.87 CC... CC,C PASS 1/1 60 FRAME_SHIFT HIGH None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%

COL26A1

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 allfamilies AWK 7 rs36008849,rs398095266
dbSNP Clinvar
101200669 1655.59 A AG PASS 1/1 148 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00137 None None None None None None COL26A1|0.059520302|60.03%

COL8A2

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 allfamilies AWK 1 . 36564628 98.3663 GGC G,... PASS 1/1 13 FRAME_SHIFT HIGH None None None None None None None COL8A2|0.188633378|37.99%

CPNE1

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 allfamilies AWK 20 rs147019139
dbSNP Clinvar
34215234 434.05 C CA PASS 0/1 230 FRAME_SHIFT HIGH None 0.10603 0.10600 0.10050 None None None None None None CPNE1|0.256351532|31.02%

CYYR1

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 allfamilies AWK 21 . 27945196 121.273 CA C PASS 0/1 88 FRAME_SHIFT HIGH None None None None None None None CYYR1|0.026615152|71.08%

DAZAP1

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 allfamilies AWK 19 . 1434834 868.36 GGC G,GG PASS 1/1 124 FRAME_SHIFT HIGH None None None None None None None DAZAP1|0.105859696|50.04%

DLX6

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 allfamilies AWK 7 . 96635644 54.61 A AC PASS 0/1 49 FRAME_SHIFT HIGH None None None None None None None DLX6|0.879390184|3.97%

DMWD

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 allfamilies AWK 19 rs8110017
dbSNP Clinvar
46289392 741.625 G C,GC PASS 0/1 145 FRAME_SHIFT HIGH None 0.90116 0.90120 0.13024 None None None None None None DMWD|0.031434746|68.82%

ETV4

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 allfamilies AWK 17 . 41610710 30.82 A AG PASS 0/1 14 FRAME_SHIFT HIGH None None None None None None None DHX8|0.375727885|22.33%,ETV4|0.879056141|3.98%

FAM151A

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 allfamilies AWK 1 rs373739034
dbSNP Clinvar
55076137 241.09 CC... C PASS 0/1 87 FRAME_SHIFT HIGH None 0.01937 0.01937 0.03019 None None None None None None ACOT11|0.083532045|54.52%,FAM151A|0.008566095|82.1%

FBLN1

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 allfamilies AWK 22 . 45958929 213.27 TC... TC... PASS 0/1 293 FRAME_SHIFT HIGH None None None None None None None FBLN1|0.107064259|49.78%

FCRL5

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 allfamilies AWK 1 . 157485640 430.29 T TG... PASS 1/2 52 FRAME_SHIFT HIGH None None None None None None None FCRL5|0.00052806|98.28%

FLVCR1

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 allfamilies AWK 1 . 213031944 513.86 TG... TG... PASS 1/3 131 FRAME_SHIFT HIGH None None None None None None None FLVCR1|0.104909636|50.24%

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 allfamilies AWK 6 . 1612053 216.63 AG ACG,A PASS 1/2 27 FRAME_SHIFT HIGH None None None None None None None FOXC1|0.68260094|9.01%

FREM2

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 allfamilies AWK 13 . 39430313 127.39 A AT PASS 1/1 20 FRAME_SHIFT HIGH None None None None None None None FREM2|0.138477767|44.62%

GLT6D1

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 allfamilies AWK 9 rs34217442
dbSNP Clinvar
138516346 413.35 CA C PASS 0/1 127 FRAME_SHIFT HIGH None 0.17173 0.17170 0.16404 None None None None None None GLT6D1|0.000296693|99.42%

GPATCH4

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 allfamilies AWK 1 rs72559129
dbSNP Clinvar
156565049 1159.12 A AAC PASS 1/1 57 FRAME_SHIFT HIGH None 0.99421 0.99420 0.00871 None None None None None None GPATCH4|0.009985342|80.84%

H6PD

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 allfamilies AWK 1 rs139855605
dbSNP Clinvar
9304978 406.321 CC... C PASS 0/1 139 FRAME_SHIFT HIGH None 0.10823 0.10820 0.09810 None None None None None None H6PD|0.129103047|46.01%

HEY2

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 allfamilies AWK 6 . 126080841 27.21 A AC PASS 0/1 48 FRAME_SHIFT HIGH None None None None None None None HEY2|0.662715118|9.61%

HSD17B1

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 allfamilies AWK 17 . 40705234 362.43 C CG,G PASS 0/1 62 FRAME_SHIFT HIGH None None None None None None None HSD17B1|0.020622705|73.88%

HSD17B11

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 allfamilies AWK 4 . 88258477 246.66 AT... AT... PASS 1/2 30 FRAME_SHIFT HIGH None None None None None None None HSD17B11|0.055099771|61.16%

HSPB6

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 allfamilies AWK 19 . 36246491 593.49 CG C PASS 0/1 93 FRAME_SHIFT HIGH None None None None None None None HSPB6|0.053364094|61.69%

HYDIN

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 allfamilies AWK 16 rs11337008,rs57797337
dbSNP Clinvar
70896015 1019.93 GA G PASS 0/1 452 FRAME_SHIFT HIGH None None None None None None None HYDIN|0.080749251|55.02%

ITIH5

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 allfamilies AWK 10 rs61199416,rs398102295
dbSNP Clinvar
7605077 1094.23 TC T PASS 1/1 82 FRAME_SHIFT HIGH None 0.90355 0.90360 0.09682 None None None None None None ITIH5|0.026992759|70.89%

KDM2B

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 allfamilies AWK 12 rs575373073
dbSNP Clinvar
122018732 227.07 CTG C PASS 0/1 126 FRAME_SHIFT HIGH None 0.00120 0.00120 None None None None None None KDM2B|0.441048653|18.62%

KIAA2013

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 allfamilies AWK 1 . 11983205 938.78 C CG PASS 1/1 116 FRAME_SHIFT HIGH None None None None None None None KIAA2013|0.052786762|61.81%

KLHL26

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 allfamilies AWK 19 . 18747928 170.65 GGC G PASS 0/1 29 FRAME_SHIFT HIGH None None None None None None None KLHL26|0.016280796|76.27%

KLRC1

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 allfamilies AWK 12 . 10603669 1524.54 G GC PASS 1/1 163 FRAME_SHIFT HIGH None None None None None None None KLRC1|0.000995781|95.46%

KRTAP19-6

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 allfamilies AWK 21 rs5843453
dbSNP Clinvar
31913981 651.8 AG A PASS 1/1 68 FRAME_SHIFT HIGH None 0.78714 0.78710 None None None None None None KRTAP19-6|0.002299977|90.16%

KRTAP4-7

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 allfamilies AWK 17 . 39240670 15.54 A AC PASS 0/1 8 FRAME_SHIFT HIGH None None None None None None None KRTAP4-7|0.005884004|84.72%

LARP7

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 allfamilies AWK 4 . 113565878 144.69 AAAAG A,AA PASS 0/2 42 FRAME_SHIFT HIGH None None None None None None None LARP7|0.077306287|55.82%

LCE1C

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 allfamilies AWK 1 . 152777869 78.94 C CG,G PASS 1/2 10 FRAME_SHIFT HIGH None None None None None None None LCE1C|0.011352019|79.73%

LEPREL2

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 allfamilies AWK 12 rs57050687
dbSNP Clinvar
6938023 585.524 C CG PASS 1/1 62 FRAME_SHIFT HIGH None 1.00000 0.00447 None None None None None None GPR162|0.14385703|43.89%,P3H3|0.042788046|64.86%

LILRB2

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 allfamilies AWK 19 . 54780730 70.78 GT G PASS 0/1 49 FRAME_SHIFT HIGH None None None None None None None LILRB2|0.000967305|95.68%

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 allfamilies AWK 3 . 100174738 31.35 A AC PASS 0/1 32 FRAME_SHIFT HIGH None None None None None None None LNP1|0.019558518|74.41%

LRIT3

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 allfamilies AWK 4 . 110791087 197.03 AT... AT... PASS 3/1 28 FRAME_SHIFT HIGH None None None None None None None LRIT3|0.01495213|77.16%

MAP9

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 allfamilies AWK 4 rs3733390
dbSNP Clinvar
156289900 353.35 C T,CT PASS 0/1 43 FRAME_SHIFT HIGH None 0.36901 0.36900 0.27603 None None None None None None MAP9|0.029230884|69.75%

MAST3

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 allfamilies AWK 19 . 18232560 30.16 T TC... PASS 0/1 15 FRAME_SHIFT HIGH None None None None None None None MAST3|0.05778294|60.46%

MEOX2

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 allfamilies AWK 7 . 15725797 735.86 AT... AT... PASS 0/1 55 FRAME_SHIFT HIGH None None None None None None None MEOX2|0.548155485|13.82%

MICA

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 allfamilies AWK 6 rs41293539
dbSNP Clinvar
31380161 321.42 G GC... PASS 0/2 104 FRAME_SHIFT HIGH None 0.00659 0.23380 None None None None None None MICA|0.000484981|98.52%

MMP28

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 allfamilies AWK 17 rs58543174
dbSNP Clinvar
34100350 1954.63 G GC PASS 1/1 174 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00208 None None None None None None MMP28|0.028140443|70.36%

MOG

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 allfamilies AWK 6 rs143182082
dbSNP Clinvar
29638515 132.05 CT... C PASS 0/1 73 FRAME_SHIFT HIGH None 0.01817 0.01817 0.01852 None None None None None None MOG|0.256831278|30.99%

MRPL18

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 allfamilies AWK 6 rs58504486,rs796468076
dbSNP Clinvar
160211645 1080.91 GGTT G,GG PASS 1/1 117 FRAME_SHIFT HIGH None 0.66514 0.66510 0.32806 None None None None None None MRPL18|0.107055217|49.79%

MS4A14

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 allfamilies AWK 11 rs3217518
dbSNP Clinvar
60165352 873.027 ATT A PASS 0/1 64 FRAME_SHIFT HIGH None 0.58706 0.58710 0.40829 None None None None None None MS4A14|0.000550519|98.18%

NELFE

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 allfamilies AWK 6 . 31922434 66.3 T TC PASS 0/1 38 FRAME_SHIFT HIGH None None None None None None None NELFE|0.303287948|27.42%

NLRC3

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 allfamilies AWK 16 rs56070390,rs398078461,rs796086799
dbSNP Clinvar
3602227 3460.34 AG A PASS 1/1 297 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00017 None None None None None None NLRC3|0.028009063|70.4%

NOP16

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 allfamilies AWK 5 rs56989856,rs397961096
dbSNP Clinvar
175811094 713.72 C CG... PASS 1/1 78 FRAME_SHIFT HIGH None None None None None None None ARL10|0.060845523|59.64%,NOP16|0.115932648|48.14%

NPAS1

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 allfamilies AWK 19 . 47542771 55.24 T TC... PASS 0/1 16 FRAME_SHIFT HIGH None None None None None None None NPAS1|0.050860776|62.41%

OR1L6

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 allfamilies AWK 9 rs758954902
dbSNP Clinvar
125512787 71.69 CG C,CA PASS 1/2 8 FRAME_SHIFT HIGH None None None None None None None OR1L6|0.017064632|75.81%

OR2T2

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 allfamilies AWK 1 rs763836447
dbSNP Clinvar
248616224 60.24 C CA PASS 0/1 216 FRAME_SHIFT HIGH None None None None None None None OR2T2|0.002797378|89.04%

OR2T35

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 allfamilies AWK 1 . 248801944 173.902 TC... T PASS 1/1 7 FRAME_SHIFT HIGH None None None None None None None OR2T35|0.002756684|89.14%

OR2T4

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 allfamilies AWK 1 rs34079073
dbSNP Clinvar
248525638 1347.53 CA C PASS 0/1 127 FRAME_SHIFT HIGH None 0.40136 0.40140 0.47987 None None None None None None OR2T4|0.002485835|89.73%

OR4L1

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 allfamilies AWK 14 rs112192573,rs33965693
dbSNP Clinvar
20528448 1184.67 TC... T PASS 1/1 128 FRAME_SHIFT HIGH None 0.53215 0.53210 None None None None None None OR4L1|0.011360474|79.72%

OR51F1

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 allfamilies AWK 11 rs34672924
dbSNP Clinvar
4790873 796.93 CG C PASS 1/1 84 FRAME_SHIFT HIGH None 0.21586 0.21590 0.31954 None None None None None None MMP26|0.003581364|87.64%,OR51F1|0.018439476|75%

OR51I2

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 allfamilies AWK 11 rs35301588
dbSNP Clinvar
5475431 459.469 T TCA PASS 0/1 199 FRAME_SHIFT HIGH None 0.17033 0.17030 0.27996 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51I2|0.044428581|64.36%

OR52B4

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 allfamilies AWK 11 rs11310407,rs398075683,rs397699893
dbSNP Clinvar
4389404 2019.12 AG A PASS 0/1 165 FRAME_SHIFT HIGH None 0.31969 0.31970 0.29346 None None None None None None OR52B4|0.005198892|85.59%

OR52E4

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 allfamilies AWK 11 . 5906290 1328.13 A AC PASS 0/1 127 FRAME_SHIFT HIGH None None None None None None None TRIM5|0.00243037|89.82%,OR52E4|0.042961367|64.81%

OR6C1

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 allfamilies AWK 12 rs5798345,rs80197193
dbSNP Clinvar
55714406 753.85 C CA PASS 0/1 88 FRAME_SHIFT HIGH None 0.32887 0.32890 0.34518 None None None None None None OR6C1|0.015896574|76.52%

OR7G3

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 allfamilies AWK 19 rs111867493,rs3029651
dbSNP Clinvar
9236698 581.34 G GA... PASS 1/1 71 FRAME_SHIFT HIGH None 0.42372 0.42370 0.41459 None None None None None None OR7G3|0.000877541|96.16%

OVCH1

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 allfamilies AWK 12 . 29648274 51.24 C CA PASS 0/1 28 FRAME_SHIFT HIGH None None None None None None None OVCH1|0.002336631|90.08%

PDE4DIP

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 allfamilies AWK 1 rs11295415,rs375854543
dbSNP Clinvar
144917827 589.68 CA C PASS 0/1 218 FRAME_SHIFT HIGH None 0.25579 0.25580 0.36421 None None None None None None PDE4DIP|0.07469644|56.36%
View allfamilies AWK 1 rs11341221
dbSNP Clinvar
144873962 610.47 CT C PASS 0/1 295 FRAME_SHIFT HIGH None 0.28914 0.28910 0.39100 None None None None None None PDE4DIP|0.07469644|56.36%

PEBP4

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 allfamilies AWK 8 rs35121552,rs398102329
dbSNP Clinvar
22570907 1681.66 GT G PASS 1/1 189 FRAME_SHIFT HIGH None 0.28634 0.28630 0.31105 None None None None None None PEBP4|0.009493021|81.28%

PGPEP1L

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 allfamilies AWK 15 rs5814919
dbSNP Clinvar
99511804 1233.09 A AC PASS 0/1 171 FRAME_SHIFT HIGH None 0.44269 0.44270 0.42317 None None None None None None PGPEP1L|0.005871674|84.73%

PLEKHG6

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 allfamilies AWK 12 . 6422859 273.89 GC... G PASS 0/1 94 FRAME_SHIFT HIGH None None None None None None None PLEKHG6|0.021055929|73.65%

POTEE

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 allfamilies AWK 2 rs9973941
dbSNP Clinvar
131976272 209.288 G C,... PASS 1/2 13 FRAME_SHIFT HIGH None None None None None None None PLEKHB2|0.091599144|52.9%,POTEE|0.001287221|93.99%

PRAP1

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 allfamilies AWK 10 . 135163607 28.6 T TC PASS 0/1 80 FRAME_SHIFT HIGH None None None None None None None ZNF511|0.006297748|84.28%,PRAP1|0.000648704|97.55%

PRKG1

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 allfamilies AWK 10 . 54041962 602.41 CTTTT CT... PASS 1/2 75 FRAME_SHIFT HIGH None None None None None None None PRKG1|0.985137344|1.27%

PRR21

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 allfamilies AWK 2 . 240982233 27.66 G GA PASS 0/1 18 FRAME_SHIFT HIGH None None None None None None None PRR21|0.000242527|99.66%

PRSS48

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 allfamilies AWK 4 rs148861921,rs77216366
dbSNP Clinvar
152201018 263.51 G GC... PASS 0/1 17 FRAME_SHIFT HIGH None 0.21246 0.21250 0.33572 None None None None None None SH3D19|0.131705972|45.65%,PRSS48|0.002048563|90.86%

PRX

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 allfamilies AWK 19 . 40902776 431.17 CT GT,C PASS 1/1 49 FRAME_SHIFT HIGH None None None None None None None PRX|0.104779801|50.28%

PSG8

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 allfamilies AWK 19 rs11355507,rs398102313
dbSNP Clinvar
43268140 2939.9 AG A PASS 1/1 315 FRAME_SHIFT HIGH None 0.10164 0.10160 0.08773 None None None None None None PSG8|0.000687941|97.34%

PTPN18

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 allfamilies AWK 2 . 131129928 123.49 AG... AG... PASS 0/1 36 FRAME_SHIFT HIGH None None None None None None None PTPN18|0.008124446|82.52%

RIBC2

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 allfamilies AWK 22 rs59404993,rs397816070
dbSNP Clinvar
45810278 2278.64 A AC PASS 1/1 141 FRAME_SHIFT HIGH None 0.99980 0.99980 0.00275 None None None None None None RIBC2|0.009518544|81.24%

RNASE3

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 allfamilies AWK 14 . 21360215 1724.48 AC A,AG PASS 1/1 97 FRAME_SHIFT HIGH None None None None None None None RNASE3|0.000849281|96.37%

RRM2B

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 allfamilies AWK 8 rs5893603
dbSNP Clinvar
103250839 816.705 C CG PASS 0/1 60 FRAME_SHIFT HIGH None 0.05132 0.05132 None None None None None None RRM2B|0.505193737|15.56%