SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

AAGAB, ACAN, ADAMTS17, AP4E1, BBS4, BUB1B, CA12, CEP152, CHD2, CHRNA3, CHRNA5, CHSY1, CIB2, CILP, DUOX2, DUOXA2, FAN1, FANCI, FBN1, GATM, HCN4, HDC, HEXA, IDH2, IGF1R, KBTBD13, KIF7, LIPC, MEF2A, MESP2, MPI, MYO1E, MYO5A, NDUFAF1, NIPA1, OCA2, PLIN1, PML, POLG, RORA, SEMA7A, SLC12A1, SLC12A6, SLC24A1, SMAD3, SPG11, SPRED1, STRA6, STRC, TPM1, TRPM1, TTBK2, VPS33B, WDR72,
AAGAB Keratoderma, palmoplantar, punctate type IA, 148600 (3)
ACAN ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3)
Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
ADAMTS17 Weill-Marchesani 4 syndrome, recessive, 613195 (3)
AP4E1 Spastic paraplegia 51, autosomal recessive, 613744 (3)
Stuttering, familial persistent, 1, 184450 (3)
BBS4 Bardet-Biedl syndrome 4, 615982 (3)
BUB1B Colorectal cancer, somatic, 114500 (3)
Mosaic variegated aneuploidy syndrome 1, 257300 (3)
[Premature chromatid separation trait], 176430 (3)
CA12 Hyperchlorhidrosis, isolated, 143860 (3)
CEP152 Microcephaly 9, primary, autosomal recessive, 614852 (3)
Seckel syndrome 5, 613823 (3)
CHD2 Epileptic encephalopathy, childhood-onset, 615369 (3)
CHRNA3 {Lung cancer susceptibility 2}, 612052 (3)
CHRNA5 {Lung cancer susceptibility 2}, 612052 (3)
{Nicotine dependence, susceptibility to}, 612052 (3)
CHSY1 Temtamy preaxial brachydactyly syndrome, 605282 (3)
CIB2 Deafness, autosomal recessive 48, 609439 (3)
Usher syndrome, type IJ, 614869 (3)
CILP {Lumbar disc disease, susceptibility to}, 603932 (3)
DUOX2 Thyroid dyshormonogenesis 6, 607200 (3)
DUOXA2 Thyroid dyshormonogenesis 5, 274900 (3)
FAN1 Interstitial nephritis, karyomegalic, 614817 (3)
FANCI Fanconi anemia, complementation group I, 609053 (3)
FBN1 Geleophysic dysplasia 2, 614185 (3)
Ectopia lentis, familial, 129600 (3)
MASS syndrome, 604308 (3)
Marfan lipodystrophy syndrome, 616914 (3)
Marfan syndrome, 154700 (3)
Acromicric dysplasia, 102370 (3)
Stiff skin syndrome, 184900 (3)
Weill-Marchesani syndrome 2, dominant, 608328 (3)
GATM Cerebral creatine deficiency syndrome 3, 612718 (3)
HCN4 Brugada syndrome 8, 613123 (3)
Sick sinus syndrome 2, 163800 (3)
HDC {Gilles de la Tourette syndrome, susceptibility to}, 137580 (3)
HEXA GM2-gangliosidosis, several forms, 272800 (3)
Tay-Sachs disease, 272800 (3)
[Hex A pseudodeficiency], 272800 (3)
IDH2 D-2-hydroxyglutaric aciduria 2, 613657 (3)
IGF1R Insulin-like growth factor I, resistance to, 270450 (3)
KBTBD13 Nemaline myopathy 6, autosomal dominant, 609273 (3)
KIF7 Acrocallosal syndrome, 200990 (3)
Joubert syndrome 12, 200990 (3)
?Hydrolethalus syndrome 2, 614120 (3)
?Al-Gazali-Bakalinova syndrome, 607131 (3)
LIPC Hepatic lipase deficiency, 614025 (3)
[High density lipoprotein cholesterol level QTL 12], 612797 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MESP2 Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MPI Congenital disorder of glycosylation, type Ib, 602579 (3)
MYO1E Glomerulosclerosis, focal segmental, 6, 614131 (3)
MYO5A Griscelli syndrome, type 1, 214450 (3)
NDUFAF1 Mitochondrial complex I deficiency, nuclear type 11, 618234 (3)
NIPA1 Spastic paraplegia 6, autosomal dominant, 600363 (3)
OCA2 Albinism, brown oculocutaneous, 203200 (3)
Albinism, oculocutaneous, type II, 203200 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
PLIN1 Lipodystrophy, familial partial, type 4, 613877 (3)
PML Leukemia, acute promyelocytic, PML/RARA type (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)
RORA Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 (3)
SEMA7A [Blood group, John-Milton-Hagen system], 614745 (3)
SLC12A1 Bartter syndrome, type 1, 601678 (3)
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
SLC24A1 Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3)
SMAD3 Loeys-Dietz syndrome 3, 613795 (3)
SPG11 Amyotrophic lateral sclerosis 5, juvenile, 602099 (3)
Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3)
Spastic paraplegia 11, autosomal recessive, 604360 (3)
SPRED1 Legius syndrome, 611431 (3)
STRA6 Microphthalmia, isolated, with coloboma 8, 601186 (3)
Microphthalmia, syndromic 9, 601186 (3)
STRC Deafness, autosomal recessive 16, 603720 (3)
TPM1 Cardiomyopathy, dilated, 1Y, 611878 (3)
Cardiomyopathy, hypertrophic, 3, 115196 (3)
Left ventricular noncompaction 9, 611878 (3)
TRPM1 Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)
TTBK2 Spinocerebellar ataxia 11, 604432 (3)
VPS33B Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)
WDR72 Amelogenesis imperfecta, type IIA3, 613211 (3)

Genes at Clinical Genomics Database

AAGAB, ACAN, ADAMTS17, AP4E1, BBS4, BUB1B, CA12, CEP152, CHD2, CHSY1, CIB2, CYP1A2, DUOX2, DUOXA2, DYX1C1, FAN1, FANCI, FBN1, GATM, HCN4, HDC, HEXA, IDH2, IGF1R, KBTBD13, KIF7, LIPC, MESP2, MPI, MYO1E, MYO5A, NDUFAF1, NIPA1, OCA2, PLIN1, POLG, SEMA7A, SLC12A1, SLC12A6, SLC24A1, SMAD3, SPG11, SPRED1, STRA6, STRC, TPM1, TRPM1, TTBK2, WDR72, ZNF592,
AAGAB Keratoderma, palmoplantar, punctate type IA
ACAN Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepiphyseal dysplasia, Kimberley type
Osteochondritis dissecans, short stature, and early-onset osteoarthritis
ADAMTS17 Weill-Marchesani-like syndrome
AP4E1 Stuttering, familial persistent, 1
Spastic paraplegia 51, autosomal recessive
BBS4 Bardet-Biedl syndrome 4
BUB1B Mosaic variegated aneuploidy syndrome
Premature chromatid separation trait
CA12 Hyperchlorhidrosis, isolated
CEP152 Seckel syndrome 5
Microcephaly 9, primary, autosomal recessive
CHD2 Epileptic encephalopathy, childhood-onset
CHSY1 Temtamy preaxial brachydactyly syndrome
CIB2 Deafness, autosomal recessive 48
Usher syndrome type IJ
CYP1A2 CYP1A2-related drug metabolism
DUOX2 Thyroid dyshormonogenesis 6
DUOXA2 Thyroid dyshormonogenesis 5
DYX1C1 Ciliary dyskinesia, primary 25
FAN1 Interstitial nephritis, karyomegalic
FANCI Fanconi anemia, complementation group I
FBN1 Marfan syndrome
MASS syndrome
Shprintzen-Goldberg syndrome
Marfan lipodystrophy syndrome
GATM Cerebral creatine deficiency syndrome 3
HCN4 Brugada syndrome 8
Sick sinus syndrome 2
HDC Tourette's syndrome
HEXA Tay-Sachs disease
GM2-gangliosidosis
Hexosaminidase A deficiency
IDH2 D-2-hydroxyglutaric aciduria 2
IGF1R Insulin-like growth factor I, resistance to
KBTBD13 Nemaline myopathy 6
KIF7 Hydrolethalus syndrome 2
Acrocallosal syndrome
Joubert syndrome 12
Al-Gazali-Bakalinova syndrome
LIPC Hepatic lipase deficiency
MESP2 Spondylocostal dysostosis 2, autosomal recessive
MPI Congenital disorder of glycosylation, type Ib
MYO1E Focal segmental glomerulosclerosis 6
MYO5A Griscelli syndrome, type 1
NDUFAF1 Mitochondrial complex I deficiency
NIPA1 Spastic paraplegia 6
OCA2 Albinism, oculocutaneous, type II
Albinism, brown oculocutaneous
Skin/hair/eye pigmentation 1
PLIN1 Lipodystrophy, familial partial, type 4
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
SEMA7A Blood group, John Milton Hagen
SLC12A1 Bartter syndrome, antenatal, type 1
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)
SLC24A1 Night blindness, congenital stationary, type 1D
SMAD3 Aneurysms-osteoarthritis syndrome
Loeys-Dietz syndrome, type 3
SPG11 Amyotrophic lateral sclerosis 5, juvenile recessive
Charcot-Marie-Tooth disease, axonal, type 2X
Spastic paraplegia 11
SPRED1 Legius syndrome
STRA6 Microphthalmia, syndromic 9
Microphthalmia, isolated, with coloboma 8
STRC Deafness, autosomal recessive 16
TPM1 Cardiomyopathy, dilated, 1Y
Cardiomyopathy, familial hypertrophic, 3
TRPM1 Night blindness, congenital stationary, type 1C
TTBK2 Spinocerebellar ataxia 11
WDR72 Amelogenesis imperfecta, hypomaturation type, IIA3
ZNF592 Spinocerebellar ataxia, autosomal recessive 5

Genes at HGMD

Summary

Number of Variants: 896
Number of Genes: 85

Export to: CSV

AAGAB

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 p545-full_variant_table 15 rs7173826
dbSNP Clinvar
67528374 257.0 T G PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36342 0.36340 0.25390 0.48 0.02 None None None None None None AAGAB|0.101167866|50.94%

ACAN

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 p545-full_variant_table 15 rs2882676
dbSNP Clinvar
89400339 293.0 A C PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42412 0.42410 0.43105 0.19 0.24 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs938608
dbSNP Clinvar
89398605 543.0 G T PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45268 0.45270 0.40313 0.01 0.84 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs938609
dbSNP Clinvar
89398631 573.0 T A PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39217 0.39220 0.43306 0.07 0.78 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs1126823
dbSNP Clinvar
89417238 746.0 A G PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40675 0.40670 0.39531 1.00 0.00 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs4080952
dbSNP Clinvar
89398825 323.0 C T low_variant_fraction 0/1 151 SYNONYMOUS_CODING LOW SILENT 0.31450 0.31450 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs3817428
dbSNP Clinvar
89415247 255.0 C G PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11422 0.11420 0.20206 0.00 0.29 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs11633157
dbSNP Clinvar
89398939 184.0 C T low_variant_fraction 0/1 186 SYNONYMOUS_CODING LOW SILENT 0.07029 0.07029 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs62023519
dbSNP Clinvar
89399110 304.0 C T low_variant_fraction 0/1 251 SYNONYMOUS_CODING LOW SILENT 0.43411 0.43410 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs698621
dbSNP Clinvar
89402596 397.0 T G PASS 0/1 73 SYNONYMOUS_CODING LOW SILENT 0.45148 0.45150 0.45219 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs1042631
dbSNP Clinvar
89402239 3214.0 T C PASS 1/1 133 SYNONYMOUS_CODING LOW SILENT 0.73642 0.73640 0.18514 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs1042630
dbSNP Clinvar
89402051 714.0 A G PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64597 0.64600 0.26503 0.20 0.01 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs3825994
dbSNP Clinvar
89401615 974.0 T G PASS 0/1 89 SYNONYMOUS_CODING LOW SILENT 0.53255 0.53250 0.35216 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs4932439
dbSNP Clinvar
89401109 1931.0 A G PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76038 0.76040 0.13224 1.00 0.01 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs12899191
dbSNP Clinvar
89400023 513.0 A G PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63 0.34 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs185960535
dbSNP Clinvar
89389082 523.0 C T PASS 0/1 73 SYNONYMOUS_CODING LOW SILENT 0.00419 0.00419 0.00220 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs2272023
dbSNP Clinvar
89391160 505.0 C A PASS 0/1 93 SYNONYMOUS_CODING LOW SILENT 0.69429 0.69430 0.20369 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs1568116
dbSNP Clinvar
89392745 3214.0 T C PASS 1/1 133 SYNONYMOUS_CODING LOW SILENT 0.99561 0.99560 0.00990 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs2351491
dbSNP Clinvar
89398105 210.0 C T PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.35004 0.35000 0.47549 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs3743399
dbSNP Clinvar
89398330 1107.0 G A PASS 1/1 47 SYNONYMOUS_CODING LOW SILENT 0.00040 0.75900 0.13242 None None None None None None ACAN|0.017538305|75.58%
View p545-full_variant_table 15 rs3743398
dbSNP Clinvar
89398407 443.0 C T PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08167 0.08167 0.14704 0.04 0.97 None None None None None None ACAN|0.017538305|75.58%

ADAMTS17

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 p545-full_variant_table 15 rs12907333
dbSNP Clinvar
100672237 2708.0 T G PASS 1/1 112 SYNONYMOUS_CODING LOW SILENT 0.99760 0.99760 0.00162 None None None None None None ADAMTS17|0.138524801|44.61%
View p545-full_variant_table 15 rs4965583
dbSNP Clinvar
100636586 873.0 G A PASS 0/1 100 SYNONYMOUS_CODING LOW SILENT 0.26378 0.26380 0.16569 None None None None None None ADAMTS17|0.138524801|44.61%

ADAMTSL3

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 p545-full_variant_table 15 rs8031704
dbSNP Clinvar
84651185 563.0 C A PASS 0/1 96 SYNONYMOUS_CODING LOW SILENT 0.37600 0.37600 0.40989 None None None None None None ADAMTSL3|0.040550889|65.6%
View p545-full_variant_table 15 rs7176737
dbSNP Clinvar
84651290 2515.0 T C PASS 1/1 104 SYNONYMOUS_CODING LOW SILENT 0.86921 0.86920 0.16600 None None None None None None ADAMTSL3|0.040550889|65.6%
View p545-full_variant_table 15 rs4842923
dbSNP Clinvar
84581904 1982.0 T C PASS 1/1 86 SYNONYMOUS_CODING LOW SILENT 0.68610 0.68610 0.38175 None None None None None None ADAMTSL3|0.040550889|65.6%
View p545-full_variant_table 15 rs950169
dbSNP Clinvar
84706461 566.0 C T PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12899 0.12900 0.19479 0.05 0.00 None None None None None None ADAMTSL3|0.040550889|65.6%
View p545-full_variant_table 15 rs12439867
dbSNP Clinvar
84581889 698.0 G A PASS 0/1 77 SYNONYMOUS_CODING LOW SILENT 0.38638 0.38640 0.28833 None None None None None None ADAMTSL3|0.040550889|65.6%
View p545-full_variant_table 15 rs4144691
dbSNP Clinvar
84539619 993.0 C G PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80751 0.80750 0.15170 1.00 0.00 None None None None None None ADAMTSL3|0.040550889|65.6%
View p545-full_variant_table 15 rs4483821
dbSNP Clinvar
84488636 2129.0 A G PASS 1/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67931 0.67930 0.43749 0.57 0.00 None None None None None None ADAMTSL3|0.040550889|65.6%
View p545-full_variant_table 15 rs4842838
dbSNP Clinvar
84582124 1766.0 G T PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68570 0.68570 0.38182 1.00 0.00 None None None None None None ADAMTSL3|0.040550889|65.6%

ALDH1A2

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 p545-full_variant_table 15 rs4646626
dbSNP Clinvar
58256127 470.0 C T PASS 0/1 89 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37280 0.37280 0.47193 0.33 0.00 None None None None None None ALDH1A2|0.864934326|4.39%

AP4E1

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 p545-full_variant_table 15 rs2306331
dbSNP Clinvar
51217361 456.0 T C PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.44090 0.44090 0.43713 1.00 0.00 None None None None None None AP4E1|0.148213005|43.26%

ATP10A

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 p545-full_variant_table 15 rs2076743
dbSNP Clinvar
25926186 296.0 G A PASS 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.67792 0.67790 0.31993 None None None None None None ATP10A|0.032097365|68.57%
View p545-full_variant_table 15 rs10873607
dbSNP Clinvar
25961964 10000.0 A G PASS 1/1 138 SYNONYMOUS_CODING LOW SILENT 0.99221 0.99220 0.00600 None None None None None None ATP10A|0.032097365|68.57%
View p545-full_variant_table 15 rs2066704
dbSNP Clinvar
25953442 1162.0 C T PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07169 0.07169 0.09426 0.63 0.07 None None None None None None ATP10A|0.032097365|68.57%
View p545-full_variant_table 15 rs3743438
dbSNP Clinvar
25933094 279.0 C T off_target 0/1 32 None None None 0.11921 0.11920 0.18 0.71 None None None None None None ATP10A|0.032097365|68.57%
View p545-full_variant_table 15 rs2076741
dbSNP Clinvar
25926204 268.0 C G PASS 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.12780 0.12780 0.08796 None None None None None None ATP10A|0.032097365|68.57%
View p545-full_variant_table 15 rs2076742
dbSNP Clinvar
25926198 297.0 C G PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12780 0.12780 0.08796 0.00 0.98 None None None None None None ATP10A|0.032097365|68.57%
View p545-full_variant_table 15 rs3816800
dbSNP Clinvar
25925094 925.0 C G PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.44609 0.44610 0.49047 0.92 0.00 None None None None None None ATP10A|0.032097365|68.57%

BBS4

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 p545-full_variant_table 15 rs12914333
dbSNP Clinvar
73023937 2563.0 T C PASS 1/1 106 SYNONYMOUS_CODING LOW SILENT 0.96046 0.96050 0.04396 None None None None None None BBS4|0.334154614|25.16%

BUB1B

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 p545-full_variant_table 15 rs1801376
dbSNP Clinvar
40477831 433.0 G A PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62820 0.62820 0.26403 1.00 0.00 None None None None None None BUB1B|0.539848425|14.21%
View p545-full_variant_table 15 rs1047130
dbSNP Clinvar
40488851 381.0 G A PASS 0/1 67 SYNONYMOUS_CODING LOW SILENT 0.19070 0.19070 0.22643 None None None None None None BUB1B|0.539848425|14.21%

CA12

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 p545-full_variant_table 15 rs369127344
dbSNP Clinvar
63632588 427.0 C T PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00008 0.05 0.01 None None None None None None CA12|0.074205068|56.48%

CASC5

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 p545-full_variant_table 15 rs8040502
dbSNP Clinvar
40915190 1272.0 A G PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70567 0.70570 0.13053 1.00 0.00 None None None None None None CASC5|0.071244707|57.17%
View p545-full_variant_table 15 rs11070285
dbSNP Clinvar
40915894 1718.0 T C PASS 1/1 71 SYNONYMOUS_CODING LOW SILENT 0.35184 0.35180 0.39279 None None None None None None CASC5|0.071244707|57.17%
View p545-full_variant_table 15 rs8041534
dbSNP Clinvar
40915045 1178.0 T G PASS 1/1 50 SYNONYMOUS_CODING LOW SILENT 0.35124 0.35120 0.39320 None None None None None None CASC5|0.071244707|57.17%
View p545-full_variant_table 15 rs2412541
dbSNP Clinvar
40913840 1319.0 G T PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65395 0.65400 0.17829 1.00 0.00 None None None None None None CASC5|0.071244707|57.17%
View p545-full_variant_table 15 rs11858113
dbSNP Clinvar
40914177 1531.0 T C PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35144 0.35140 0.39147 0.01 0.59 None None None None None None CASC5|0.071244707|57.17%
View p545-full_variant_table 15 rs11855334
dbSNP Clinvar
40914772 1743.0 C T PASS 1/1 74 SYNONYMOUS_CODING LOW SILENT 0.35084 0.35080 0.38989 None None None None None None CASC5|0.071244707|57.17%

CEP152

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 p545-full_variant_table 15 rs16961560
dbSNP Clinvar
49048705 283.0 G C PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05052 0.05052 0.05548 0.10 0.04 None None None None None None CEP152|0.092828159|52.66%

CHD2

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 p545-full_variant_table 15 rs11074121
dbSNP Clinvar
93521604 1343.0 A G PASS 1/1 57 SYNONYMOUS_CODING LOW SILENT 0.80911 0.80910 0.25235 None None None None None None CHD2|0.402314815|20.62%
View p545-full_variant_table 15 rs2272457
dbSNP Clinvar
93536197 714.0 C T PASS 0/1 89 SYNONYMOUS_CODING LOW SILENT 0.19349 0.19350 0.24850 None None None None None None CHD2|0.402314815|20.62%
View p545-full_variant_table 15 rs12906163
dbSNP Clinvar
93567864 463.0 A C PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.18650 0.18650 0.31468 None None None None None None CHD2|0.402314815|20.62%

CHRNA3

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 p545-full_variant_table 15 rs8040868
dbSNP Clinvar
78911181 693.0 T C PASS 0/1 98 SYNONYMOUS_CODING LOW SILENT 0.32847 0.32850 0.38519 None None None None None None CHRNA3|0.230381335|33.33%
View p545-full_variant_table 15 rs3743075
dbSNP Clinvar
78909452 385.0 T C PASS 0/1 77 SYNONYMOUS_CODING LOW SILENT 0.63498 0.63500 0.39567 None None None None None None CHRNA3|0.230381335|33.33%
View p545-full_variant_table 15 rs1051730
dbSNP Clinvar
78894339 601.0 G A PASS 0/1 88 SYNONYMOUS_CODING LOW SILENT 0.16813 0.16810 0.27192 None None None None None None CHRNA3|0.230381335|33.33%
View p545-full_variant_table 15 rs937143073
dbSNP Clinvar
78913085 2486.0 GCAGC G PASS 0/1 293 FRAME_SHIFT HIGH None None None None None None CHRNA3|0.230381335|33.33%

CHRNA5

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 p545-full_variant_table 15 rs16969968
dbSNP Clinvar
78882925 788.0 G A PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14956 0.14960 0.25173 0.16 0.01 None None None None None None CHRNA5|0.152935897|42.54%

CHRNA7

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 p545-full_variant_table 15 rs2292571
dbSNP Clinvar
32322929 699.0 G A PASS 0/1 76 SYNONYMOUS_CODING LOW SILENT 0.09125 0.09125 None None None None None None CHRNA7|0.168515319|40.52%

CHRNB4

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 p545-full_variant_table 15 rs56235003
dbSNP Clinvar
78921602 1048.0 G A PASS 0/1 173 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00399 0.00399 0.00694 0.00 0.99 None None None None None None CHRNB4|0.059890218|59.88%
View p545-full_variant_table 15 rs1948
dbSNP Clinvar
78917399 2729.0 A G PASS 1/1 116 None None None 0.69489 0.69490 None None None None None None CHRNB4|0.059890218|59.88%

CHSY1

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 p545-full_variant_table 15 rs7176149
dbSNP Clinvar
101791359 967.0 C G PASS 0/1 109 SYNONYMOUS_CODING LOW SILENT 0.22804 0.22800 0.23901 None None None None None None CHSY1|0.085657986|54.01%
View p545-full_variant_table 15 rs28364839
dbSNP Clinvar
101718097 2001.0 C G PASS 1/1 85 SYNONYMOUS_CODING LOW SILENT 0.24082 0.24080 0.29809 None None None None None None CHSY1|0.085657986|54.01%
View p545-full_variant_table 15 rs8024370
dbSNP Clinvar
101717680 2418.0 G T PASS 1/1 100 SYNONYMOUS_CODING LOW SILENT 0.75978 0.75980 0.33523 None None None None None None CHSY1|0.085657986|54.01%
View p545-full_variant_table 15 rs62621400
dbSNP Clinvar
101718239 1010.0 C G PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04772 0.04772 0.04713 0.27 0.04 None None None None None None CHSY1|0.085657986|54.01%
View p545-full_variant_table 15 rs7175303
dbSNP Clinvar
101791605 347.0 G A PASS 0/1 33 SYNONYMOUS_CODING LOW SILENT 0.21006 0.21010 None None None None None None CHSY1|0.085657986|54.01%

CIB2

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 p545-full_variant_table 15 rs200546031
dbSNP Clinvar
78398100 769.0 T G PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.00015 0.01 0.09 None None None None None None CIB2|0.08590016|53.95%
View p545-full_variant_table 15 rs10456
dbSNP Clinvar
78398146 779.0 G A PASS 0/1 100 SYNONYMOUS_CODING LOW SILENT 0.12760 0.12760 0.18786 None None None None None None CIB2|0.08590016|53.95%

CILP

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 p545-full_variant_table 15 rs2073711
dbSNP Clinvar
65494212 1791.0 A G PASS 1/1 74 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.49661 0.49660 0.36379 0.10 0.00 None None None None None None CILP|0.25593882|31.04%
View p545-full_variant_table 15 rs938952
dbSNP Clinvar
65489128 630.0 C T PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80571 0.80570 0.26881 0.74 0.00 None None None None None None CILP|0.25593882|31.04%
View p545-full_variant_table 15 rs2679117
dbSNP Clinvar
65489688 10000.0 T C PASS 1/1 143 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99101 0.99100 0.01392 1.00 0.00 None None None None None None CILP|0.25593882|31.04%
View p545-full_variant_table 15 rs2679118
dbSNP Clinvar
65490901 2273.0 T C PASS 1/1 94 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99101 0.99100 0.01377 1.00 0.00 None None None None None None CILP|0.25593882|31.04%

CYFIP1

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 p545-full_variant_table 15 rs2289824
dbSNP Clinvar
22926229 212.0 G A low_coverage;off_target 1/1 9 None None None 0.91913 0.91910 0.28 0.00 None None None None None None CYFIP1|0.362096046|23.3%
View p545-full_variant_table 15 rs4134802
dbSNP Clinvar
22925851 1065.0 C T PASS 0/1 153 SYNONYMOUS_CODING LOW SILENT 0.17692 0.17690 0.25188 None None None None None None CYFIP1|0.362096046|23.3%
View p545-full_variant_table 15 rs11633474
dbSNP Clinvar
22939192 159.0 G A PASS 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.33007 0.33010 0.44603 None None None None None None CYFIP1|0.362096046|23.3%
View p545-full_variant_table 15 rs7170637
dbSNP Clinvar
22969232 874.0 G A PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26578 0.26580 0.31001 0.58 0.00 None None None None None None CYFIP1|0.362096046|23.3%

CYP1A2

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 p545-full_variant_table 15 rs2470890
dbSNP Clinvar
75047426 671.0 C T PASS 0/1 106 SYNONYMOUS_CODING LOW SILENT 0.23622 0.23620 0.47482 None None None None None None CYP1A2|0.080566109|55.04%

DUOX2

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 p545-full_variant_table 15 rs2001616
dbSNP Clinvar
45404066 2800.0 G A PASS 1/1 119 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75998 0.76000 0.25685 0.13 0.05 None None None None None None DUOX2|0.097866177|51.55%
View p545-full_variant_table 15 rs269868
dbSNP Clinvar
45392075 10000.0 G A PASS 1/1 137 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.72025 0.72020 0.29726 0.04 0.02 None None None None None None DUOX2|0.097866177|51.55%
View p545-full_variant_table 15 rs269860
dbSNP Clinvar
45400358 1796.0 C G PASS 1/1 76 SYNONYMOUS_CODING LOW SILENT 0.86142 0.86140 0.14332 None None None None None None DUOX2|0.097866177|51.55%

DUOXA2

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 p545-full_variant_table 15 rs2576090
dbSNP Clinvar
45408414 1984.0 C G PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85843 0.85840 0.13562 1.00 0.00 None None None None None None DUOXA2|0.030794296|69.05%

DYX1C1

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 p545-full_variant_table 15 rs77641439
dbSNP Clinvar
55722872 551.0 G C PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10383 0.10380 0.08719 0.00 1.00 None None None None None None DYX1C1|0.073770721|56.56%
View p545-full_variant_table 15 rs600753
dbSNP Clinvar
55759193 1506.0 T C PASS 0/1 169 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52836 0.52840 0.45149 0.03 0.02 None None None None None None DYX1C1|0.073770721|56.56%

FAN1

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 p545-full_variant_table 15 rs4779794
dbSNP Clinvar
31197564 914.0 G A PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42252 0.42250 0.31952 0.25 0.03 None None None None None None FAN1|0.004030595|86.96%
View p545-full_variant_table 15 rs2955795
dbSNP Clinvar
31229420 1144.0 T C PASS 0/1 94 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.45707 0.45710 0.34820 None None None None None None FAN1|0.004030595|86.96%

FANCI

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 p545-full_variant_table 15 rs1138465
dbSNP Clinvar
89858602 686.0 T C PASS 0/1 82 SYNONYMOUS_CODING LOW SILENT 0.41234 0.41230 0.40960 None None None None None None FANCI|0.35466511|23.8%
View p545-full_variant_table 15 rs7183618
dbSNP Clinvar
89838236 1887.0 G A PASS 1/1 78 SYNONYMOUS_CODING LOW SILENT 0.98083 0.98080 0.03993 None None None None None None FANCI|0.35466511|23.8%
View p545-full_variant_table 15 rs17803620
dbSNP Clinvar
89804043 478.0 C T PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25978 0.25980 0.28628 0.10 0.06 None None None None None None FANCI|0.35466511|23.8%

FBN1

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 p545-full_variant_table 15 rs4775765
dbSNP Clinvar
48807637 1501.0 C T PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None FBN1|0.938751901|2.53%
View p545-full_variant_table 15 rs25458
dbSNP Clinvar
48797307 810.0 A G PASS 0/1 95 SYNONYMOUS_CODING LOW SILENT 0.29693 0.29690 0.24442 None None None None None None FBN1|0.938751901|2.53%

FEM1B

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 p545-full_variant_table 15 rs6494729
dbSNP Clinvar
68583175 2394.0 T C PASS 1/1 99 SYNONYMOUS_CODING LOW SILENT 0.99960 0.99960 None None None None None None FEM1B|0.258960254|30.82%

FMN1

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 p545-full_variant_table 15 rs2930131
dbSNP Clinvar
33261232 532.0 G A PASS 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.53195 0.53190 0.45191 None None None None None None FMN1|0.549093904|13.77%
View p545-full_variant_table 15 rs11072170
dbSNP Clinvar
33359370 701.0 C T PASS 0/1 85 None None None 0.26058 0.26060 0.29611 0.54 0.00 None None None None None None FMN1|0.549093904|13.77%
View p545-full_variant_table 15 rs28507600
dbSNP Clinvar
33446311 726.0 G C PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31729 0.31730 0.08 0.01 None None None None None None FMN1|0.549093904|13.77%
View p545-full_variant_table 15 rs11858145
dbSNP Clinvar
33359574 454.0 C A PASS 0/1 86 None None None 0.72324 0.72320 0.36727 0.40 0.00 None None None None None None FMN1|0.549093904|13.77%
View p545-full_variant_table 15 rs2291065
dbSNP Clinvar
33381000 434.0 A T PASS 0/1 83 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.23343 0.23340 0.29 0.00 None None None None None None FMN1|0.549093904|13.77%
View p545-full_variant_table 15 rs2306277
dbSNP Clinvar
33357262 393.0 A G PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.44988 0.44990 0.46326 1.00 0.00 None None None None None None FMN1|0.549093904|13.77%
View p545-full_variant_table 15 rs28377066
dbSNP Clinvar
33446258 699.0 G A PASS 0/1 86 SYNONYMOUS_CODING LOW SILENT 0.31749 0.31750 None None None None None None FMN1|0.549093904|13.77%

GATM

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 p545-full_variant_table 15 rs1145086
dbSNP Clinvar
45654327 449.0 A G PASS 0/1 90 SYNONYMOUS_CODING LOW SILENT 0.71765 0.71770 0.46606 None None None None None None GATM|0.454733426|17.95%