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Genes at Omim

ADH1B, ADH1C, ADRA2C, AFP, AGA, ALB, ANTXR2, CEP135, CFI, CNGA1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DRD5, DSPP, EGF, EIF4E, ENAM, ETFDH, EVC, EVC2, F11, FGB, FGFR3, FRAS1, GLRB, GRXCR1, GYPA, HMX1, HPGD, HTT, IDUA, IL21, KDR, KLKB1, MANBA, MTTP, MUC7, NAT8L, NFKB1, NKX3-2, NR3C2, PALLD, PDE6B, PDGFRA, PRDM5, PRSS12, SCARB2, SH3BP2, SLC26A1, SLC2A9, SLC34A2, SLC4A4, SOD3, TLL1, TLR1, TLR2, TMEM165, TRPC3, UCP1, UGT2B17, UVSSA, WDFY3, WFS1,
ADH1B {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3)
{Alcohol dependence, protection against}, 103780 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
ADRA2C {Congestive heart failure and beta-blocker response, modifier of} (3)
AFP Alpha-fetoprotein deficiency, 615969 (3)
[Hereditary persistence of alpha-fetoprotein], 615970 (3)
AGA Aspartylglucosaminuria, 208400 (3)
ALB Analbuminemia, 616000 (3)
[Dysalbuminemic hyperthyroxinemia], 615999 (3)
ANTXR2 Hyaline fibromatosis syndrome, 228600 (3)
CEP135 Microcephaly 8, primary, autosomal recessive, 614673 (3)
CFI {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3)
{Macular degeneration, age-related, 13, susceptibility to}, 615439 (3)
Complement factor I deficiency, 610984 (3)
CNGA1 Retinitis pigmentosa 49, 613756 (3)
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
{Multiple system atrophy, susceptibility to}, 146500 (3)
CORIN Preeclampsia/eclampsia 5, 614595 (3)
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 (3)
DMP1 Hypophosphatemic rickets, AR, 241520 (3)
DOK7 ?Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 10, 254300 (3)
DRD5 {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3)
{Blepharospasm, primary benign}, 606798 (3)
DSPP Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3)
Dentin dysplasia, type II, 125420 (3)
Dentinogenesis imperfecta, Shields type II, 125490 (3)
Dentinogenesis imperfecta, Shields type III, 125500 (3)
EGF Hypomagnesemia 4, renal, 611718 (3)
EIF4E {Autism, susceptibility to, 19}, 615091 (3)
ENAM Amelogenesis imperfecta, type IB, 104500 (3)
Amelogenesis imperfecta, type IC, 204650 (3)
ETFDH Glutaric acidemia IIC, 231680 (3)
EVC Ellis-van Creveld syndrome, 225500 (3)
?Weyers acrofacial dysostosis, 193530 (3)
EVC2 Ellis-van Creveld syndrome, 225500 (3)
Weyers acrofacial dysostosis, 193530 (3)
F11 Factor XI deficiency, autosomal dominant, 612416 (3)
Factor XI deficiency, autosomal recessive, 612416 (3)
FGB Afibrinogenemia, congenital, 202400 (3)
Hypofibrinogenemia, congenital, 202400 (3)
Dysfibrinogenemia, congenital, 616004 (3)
FGFR3 Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Hypochondroplasia, 146000 (3)
Achondroplasia, 100800 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FRAS1 Fraser syndrome 1, 219000 (3)
GLRB Hyperekplexia 2, 614619 (3)
GRXCR1 Deafness, autosomal recessive 25, 613285 (3)
GYPA {Malaria, resistance to}, 611162 (3)
[Blood group, MNSs system], 111300 (3)
HMX1 Oculoauricular syndrome, 612109 (3)
HPGD Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3)
Cranioosteoarthropathy, 259100 (3)
Digital clubbing, isolated congenital, 119900 (3)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
IDUA Mucopolysaccharidosis Ih, 607014 (3)
Mucopolysaccharidosis Ih/s, 607015 (3)
Mucopolysaccharidosis Is, 607016 (3)
IL21 ?Immunodeficiency, common variable, 11, 615767 (3)
KDR {Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
Hemangioma, capillary infantile, somatic, 602089 (3)
KLKB1 Fletcher factor (prekallikrein) deficiency, 612423 (3)
MANBA Mannosidosis, beta, 248510 (3)
MTTP Abetalipoproteinemia, 200100 (3)
{Metabolic syndrome, protection against}, 605552 (3)
MUC7 {Asthma, protection against}, 600807 (3)
NAT8L ?N-acetylaspartate deficiency, 614063 (3)
NFKB1 Immunodeficiency, common variable, 12, 616576 (3)
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3)
NR3C2 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)
Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)
PALLD {Pancreatic cancer, susceptibility to, 1}, 606856 (3)
PDE6B Night blindness, congenital stationary, autosomal dominant 2, 163500 (3)
Retinitis pigmentosa-40, 613801 (3)
PDGFRA Gastrointestinal stromal tumor, somatic, 606764 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PRDM5 Brittle cornea syndrome 2, 614170 (3)
PRSS12 Mental retardation, autosomal recessive 1, 249500 (3)
SCARB2 Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)
SH3BP2 Cherubism, 118400 (3)
SLC26A1 ?Nephrolithiasis, calcium oxalate, 167030 (3)
SLC2A9 Hypouricemia, renal, 2, 612076 (3)
{Uric acid concentration, serum, QTL 2}, 612076 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
SOD3 [Superoxide dismutase, elevated extracellular] (3)
TLL1 Atrial septal defect 6, 613087 (3)
TLR1 {Leprosy, protection against}, 613223 (3)
{Leprosy, susceptibility to, 5}, 613223 (3)
TLR2 {Leprosy, susceptibility to}, 246300 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
{Colorectal cancer, susceptibility to}, 114500 (3)
TMEM165 Congenital disorder of glycosylation, type IIk, 614727 (3)
TRPC3 ?Spinocerebellar ataxia 41, 616410 (3)
UCP1 {Obesity, susceptibility to}, 601665 (3)
UGT2B17 {Bone mineral density QTL 12, osteoporosis}, 612560 (3)
UVSSA UV-sensitive syndrome 3, 614640 (3)
WDFY3 ?Microcephaly 18, primary, autosomal dominant, 617520 (3)
WFS1 Deafness, autosomal dominant 6/14/38, 600965 (3)
?Cataract 41, 116400 (3)
Wolfram syndrome 1, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)

Genes at Clinical Genomics Database

ADRA2C, AFP, AGA, ALB, ANTXR2, CEP135, CFI, CNGA1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DSPP, EGF, ENAM, ETFDH, EVC, EVC2, F11, FGB, FGFR3, FRAS1, GLRB, GRXCR1, GYPA, HADH, HMX1, HPGD, HTT, IDUA, IL21, KLKB1, MANBA, MTTP, NAT8L, NFKB1, NKX3-2, NR3C2, PDE6B, PDGFRA, PRDM5, PRSS12, SCARB2, SH3BP2, SLC2A9, SLC34A2, SLC4A4, TLL1, TMEM165, TRPC3, UVSSA, WFS1,
ADRA2C Beta-blocker response, association with
AFP AFP deficiency, congenital
Hereditary persistence of AFP
AGA Aspartylglucosaminuria
ALB Dysalbuminemic hyperthyroxinemia
Analbuminemia
ANTXR2 Hyalinosis, infantile systemic
Fibromatosis, juveline hyaline
CEP135 Microcephaly 8, primary, autosomal recessive
CFI Hemolytic uremic syndrome, atypical
Complement factor I deficiency
CNGA1 Retinitis pigmentosa 49
COQ2 Coenzyme Q10 deficiency 1
CORIN Preeclampsia/eclampsia 5
CYP4V2 Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive
DMP1 Hypophosphatemic rickets, autosomal recessive 1
DOK7 Myasthenic syndrome, congenital 10
DSPP Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1
Dentinogenesis imperfecta, Shields type II
Dentinogenesis imperfecta, Shields type III
Dentin dysplasia, type II
EGF Hypomagnesemia 4, renal
ENAM Amelogenesis imperfecta, type IB
Amelogenesis imperfecta, type IC
ETFDH Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
EVC Ellis-van Creveld syndrome
Weyers acrofacial dysostosis
EVC2 Ellis-van Creveld syndrome
Weyers acrodental dysostosis
F11 Factor XI deficiency
FGB Afibrinogenemia, congenital
Dysfibrinogenemia, congenital
Hypodysfibrinogenemia, congenital
FGFR3 Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
Crouzon syndrome with acanthosis nigricans
Lacrimoauriculodentodigital syndrome (AD)
Muenke syndrome
FRAS1 Fraser syndrome
GLRB Hyperekplexia 2
GRXCR1 Deafness, autosomal recessive 25
GYPA Blood group, MN locus
Blood group, Erik
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia, familial, 4
HMX1 Oculoauricular syndrome
HPGD Hypertrophic osteoarthropathy, primary, autosomal recessive 1
Cranioosteoarthropathy
Digital clubbing, isolated congenital
HTT Huntington disease
IDUA Mucopolysaccharidosis type I
IL21 Immunodeficiency, common variable, 11
KLKB1 Prekallikrein deficiency
MANBA Mannosidosis, beta A, lysosomal
MTTP Abetalipoproteinemia
NAT8L N-acetylaspartate deficiency
NFKB1 Immunodeficiency, common variable, 12
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia
NR3C2 Pseudohypoaldosteronism type I, autosomal dominant
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
PDE6B Night blindness, congenital stationary, autosomal dominant 2
Retinitis pigmentosa 40
PDGFRA Gastrointestinal stromal tumor
PRDM5 Brittle cornea syndrome 2
PRSS12 Mental retardation, autosomal recessive 1
SCARB2 Epilepsy, progressive myoclonic 4, with or without renal failure
SH3BP2 Cherubism
SLC2A9 Hypouricemia, renal, 2
SLC34A2 Pulmonary alveolar microlithiasis
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities and/or migraine
TLL1 Atrial septal defect 6
TMEM165 Congenital disorder of glycosylation, type IIk
TRPC3 Spinocerebellar ataxia 41
UVSSA UV-sensitive syndrome 3
WFS1 Wolfram syndrome

Genes at HGMD

Summary

Number of Variants: 413
Number of Genes: 123

Export to: CSV

ADH1B

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 chu17257-cha-zoe_s2 4 rs1229984
dbSNP Clinvar
100239319 904.16 T C PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.84145 0.84150 0.03652 0.65 0.00 None None None None None None ADH1B|0.074839204|56.32%
View chu17257-cha-zoe_s2 4 rs1789882
dbSNP Clinvar
100235053 3917.26 A G PASS 1/1 136 SYNONYMOUS_CODING LOW None 0.82967 0.82970 0.19151 None None None None None None ADH1B|0.074839204|56.32%

ADH1C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs1693482
dbSNP Clinvar
100263965 3645.25 C T PASS 1/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.21426 0.21430 0.30478 0.14 0.01 None None None None None None None
View chu17257-cha-zoe_s2 4 rs283413
dbSNP Clinvar
100268190 1161.76 A C PASS 1/1 36 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None
View chu17257-cha-zoe_s2 4 rs698
dbSNP Clinvar
100260789 1135.46 T C PASS 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.21426 0.21430 0.30751 0.54 0.00 None None None None None None None
View chu17257-cha-zoe_s2 4 rs1693425
dbSNP Clinvar
100266112 3323.94 C T PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.21446 0.21450 0.30617 None None None None None None None
View chu17257-cha-zoe_s2 4 rs1789915
dbSNP Clinvar
100266371 1070.45 A G PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.15016 0.15020 0.23396 None None None None None None None

ADH4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs1126672
dbSNP Clinvar
100047812 958.83 G A PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.11721 0.11720 0.22797 None None None None None None ADH4|0.01057839|80.46%
View chu17257-cha-zoe_s2 4 rs1126673
dbSNP Clinvar
100045616 486.14 C T PASS 0/1 28 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.84724 0.84720 0.26992 1.00 0.00 None None None None None None ADH4|0.01057839|80.46%
View chu17257-cha-zoe_s2 4 rs2032349
dbSNP Clinvar
100062819 800.39 A G PASS 1/1 27 SYNONYMOUS_CODING LOW None 0.96406 0.96410 0.04121 None None None None None None ADH4|0.01057839|80.46%
View chu17257-cha-zoe_s2 4 rs1126670
dbSNP Clinvar
100052733 1193.34 C A PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.84724 0.84720 0.26872 None None None None None None ADH4|0.01057839|80.46%
View chu17257-cha-zoe_s2 4 rs1126671
dbSNP Clinvar
100048414 788.02 T C PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.84705 0.84700 0.26911 0.69 0.00 None None None None None None ADH4|0.01057839|80.46%

ADH7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs971074
dbSNP Clinvar
100341861 696.72 C T PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.11981 0.11980 0.13755 None None None None None None ADH7|0.005793386|84.83%

ADRA2C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs7434630
dbSNP Clinvar
3769500 786.28 C T PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.18970 0.18970 0.16292 None None None None None None ADRA2C|0.032603753|68.35%

AFP

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 chu17257-cha-zoe_s2 4 rs28482344
dbSNP Clinvar
74313193 396.77 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.00459 0.00459 0.01269 None None None None None None AFP|0.580248443|12.58%
View chu17257-cha-zoe_s2 4 rs4235117
dbSNP Clinvar
74318330 1148.24 A G PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.97704 0.97700 0.02007 None None None None None None AFP|0.580248443|12.58%

AGA

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 chu17257-cha-zoe_s2 4 rs2228119
dbSNP Clinvar
178359960 1627.18 G C PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.92093 0.92090 0.07474 0.45 0.00 None None None None None None AGA|0.096232451|51.89%

ALB

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs962004
dbSNP Clinvar
74285239 1593.96 C T PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.48343 0.48340 0.48170 None None None None None None ALB|0.999994036|0.04%

ANTXR2

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 chu17257-cha-zoe_s2 4 rs12647691
dbSNP Clinvar
80905990 1205.01 C G PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.80272 0.80270 0.28982 1.00 0.00 None None None None None None ANTXR2|0.866348045|4.33%

ARHGAP24

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 chu17257-cha-zoe_s2 4 rs6824722
dbSNP Clinvar
86844835 805.97 A G PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.39637 0.39640 0.31655 None None None None None None ARHGAP24|0.256470392|31.01%
View chu17257-cha-zoe_s2 4 rs11547776
dbSNP Clinvar
86915923 2159.91 G A PASS 0/1 122 SYNONYMOUS_CODING LOW None 0.25459 0.25460 0.19476 None None None None None None ARHGAP24|0.256470392|31.01%
View chu17257-cha-zoe_s2 4 rs10003909
dbSNP Clinvar
86915848 2062.13 T C PASS 0/1 151 SYNONYMOUS_CODING LOW None 0.35443 0.35440 0.29909 None None None None None None ARHGAP24|0.256470392|31.01%

ATP10D

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 chu17257-cha-zoe_s2 4 rs35012290
dbSNP Clinvar
47538044 390.76 G A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.05351 0.05351 0.05683 0.00 0.98 None None None None None None ATP10D|0.06998296|57.49%
View chu17257-cha-zoe_s2 4 rs11729411
dbSNP Clinvar
47560163 5541.2 C A PASS 1/1 178 SYNONYMOUS_CODING LOW None 0.22464 0.22460 0.21329 None None None None None None ATP10D|0.06998296|57.49%
View chu17257-cha-zoe_s2 4 rs33995001
dbSNP Clinvar
47514685 1152.82 C T PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.30491 0.30490 0.38967 0.05 0.10 None None None None None None ATP10D|0.06998296|57.49%

BANK1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs3113676
dbSNP Clinvar
102965043 2767.49 T C PASS 1/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00938 0.40 0.00 None None None None None None BANK1|0.027814487|70.51%
View chu17257-cha-zoe_s2 4 rs62321738
dbSNP Clinvar
102816467 349.42 C G PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.10703 0.10700 0.05316 0.03 0.19 None None None None None None BANK1|0.027814487|70.51%
View chu17257-cha-zoe_s2 4 rs10516486
dbSNP Clinvar
102751276 2125.25 C T PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.54034 0.54030 0.48862 None None None None None None BANK1|0.027814487|70.51%

BTC

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 chu17257-cha-zoe_s2 4 rs28549760
dbSNP Clinvar
75719517 61.21 A C SB;LowDP 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.25080 0.25080 0.19344 0.51 0.00 None None None None None None BTC|0.03501421|67.46%

CCNA2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs769242
dbSNP Clinvar
122742217 1361.59 T C PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.96865 0.96870 0.03091 0.77 0.00 None None None None None None CCNA2|0.718963702|7.99%

CEP135

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 chu17257-cha-zoe_s2 4 rs3214045
dbSNP Clinvar
56874517 521.44 A C PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.13918 0.13920 0.21078 1.00 0.00 None None None None None None CEP135|0.177031945|39.42%

CFI

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 chu17257-cha-zoe_s2 4 rs11098044
dbSNP Clinvar
110678925 2179.25 T C PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.96685 0.96690 0.03502 0.80 0.00 None None None None None None CFI|0.013786907|78.03%

CHRNA9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs56241474
dbSNP Clinvar
40337523 2156.13 C T PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.21705 0.21710 0.29894 None None None None None None CHRNA9|0.127142482|46.31%
View chu17257-cha-zoe_s2 4 rs55633891
dbSNP Clinvar
40356041 547.52 C T PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.14177 0.14180 0.13509 0.48 0.48 None None None None None None CHRNA9|0.127142482|46.31%
View chu17257-cha-zoe_s2 4 rs10009228
dbSNP Clinvar
40356422 2279.58 A G PASS 0/1 177 NON_SYNONYMOUS_CODING MODERATE None 0.74501 0.74500 0.23558 0.43 0.00 None None None None None None CHRNA9|0.127142482|46.31%
View chu17257-cha-zoe_s2 4 rs10022491
dbSNP Clinvar
40337908 3585.27 T C PASS 1/1 130 SYNONYMOUS_CODING LOW None 0.64437 0.64440 0.34546 None None None None None None CHRNA9|0.127142482|46.31%
View chu17257-cha-zoe_s2 4 rs56159866
dbSNP Clinvar
40337944 1092.27 C T PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.11482 0.11480 0.18315 None None None None None None CHRNA9|0.127142482|46.31%

CLNK

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs75741253
dbSNP Clinvar
10599670 886.97 G T PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.01458 0.01458 0.03599 None None None None None None CLNK|0.005919624|84.67%
View chu17257-cha-zoe_s2 4 rs2903960
dbSNP Clinvar
10502937 4330.67 T G PASS 1/1 141 SYNONYMOUS_CODING LOW None 0.99002 0.99000 0.00858 None None None None None None CLNK|0.005919624|84.67%

CLOCK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs3736544
dbSNP Clinvar
56309992 2169.22 A G PASS 0/1 141 SYNONYMOUS_CODING LOW None 0.72304 0.72300 0.34130 None None None None None None TMEM165|0.104313553|50.37%,CLOCK|0.729300056|7.68%

CNGA1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs28642966
dbSNP Clinvar
47945295 374.68 C T PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.19968 0.19970 0.12082 0.25 0.01 None None None None None None NIPAL1|0.065350151|58.53%,CNGA1|0.095013818|52.11%
View chu17257-cha-zoe_s2 4 rs28475840
dbSNP Clinvar
47973031 979.67 G A PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.23582 0.23580 None None None None None None NIPAL1|0.065350151|58.53%,CNGA1|0.095013818|52.11%
View chu17257-cha-zoe_s2 4 rs7693648
dbSNP Clinvar
47973110 517.63 G A PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.45927 0.45930 0.00 None None None None None None NIPAL1|0.065350151|58.53%,CNGA1|0.095013818|52.11%

COQ2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs1129617
dbSNP Clinvar
84188850 2318.71 G A PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.21026 0.21030 0.22084 None None None None None None COQ2|0.032632343|68.33%

CORIN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs2289433
dbSNP Clinvar
47839929 1336.57 C T PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.69349 0.69350 0.29479 1.00 0.00 None None None None None None CORIN|0.070281141|57.43%
View chu17257-cha-zoe_s2 4 rs10517195
dbSNP Clinvar
47682174 1255.67 A G PASS 0/1 155 SYNONYMOUS_CODING LOW None 0.37101 0.37100 0.49439 None None None None None None CORIN|0.070281141|57.43%

CPZ

Omim - GeneCards - NCBI
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RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs4431213
dbSNP Clinvar
8602935 4190.22 A G PASS 1/1 137 SYNONYMOUS_CODING LOW None 0.98343 0.98340 0.01584 None None None None None None GPR78|0.001761068|91.64%,CPZ|0.017285966|75.68%
View chu17257-cha-zoe_s2 4 rs2302583
dbSNP Clinvar
8594574 610.95 T C PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.80611 0.80610 0.16 0.00 None None None None None None GPR78|0.001761068|91.64%,CPZ|0.017285966|75.68%
View chu17257-cha-zoe_s2 4 rs34964084
dbSNP Clinvar
8594577 269.31 C T PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.13079 0.13080 0.09572 0.02 0.00 None None None None None None GPR78|0.001761068|91.64%,CPZ|0.017285966|75.68%
View chu17257-cha-zoe_s2 4 rs4301095
dbSNP Clinvar
8602884 3770.06 T C PASS 1/1 126 SYNONYMOUS_CODING LOW None 0.98343 0.98340 0.01607 None None None None None None GPR78|0.001761068|91.64%,CPZ|0.017285966|75.68%
View chu17257-cha-zoe_s2 4 rs35993494
dbSNP Clinvar
8603117 1504.15 A T PASS 0/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.10104 0.10100 0.14565 0.63 0.00 None None None None None None GPR78|0.001761068|91.64%,CPZ|0.017285966|75.68%
View chu17257-cha-zoe_s2 4 rs6852001
dbSNP Clinvar
8605818 2430.3 C T PASS 0/1 167 SYNONYMOUS_CODING LOW None 0.16114 0.16110 0.18709 None None None None None None GPR78|0.001761068|91.64%,CPZ|0.017285966|75.68%
View chu17257-cha-zoe_s2 4 rs7378066
dbSNP Clinvar
8616179 2458.72 T C PASS 1/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.99541 0.99540 0.00577 0.80 0.00 None None None None None None GPR78|0.001761068|91.64%,CPZ|0.017285966|75.68%
View chu17257-cha-zoe_s2 4 rs28514374
dbSNP Clinvar
8621194 2844.73 A G PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.99541 0.99540 0.00354 None None None None None None GPR78|0.001761068|91.64%,CPZ|0.017285966|75.68%

CXCL5

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs425535
dbSNP Clinvar
74863997 5419.72 T C PASS 1/1 186 SYNONYMOUS_CODING LOW None 0.81310 0.81310 0.20898 None None None None None None CXCL5|0.004284463|86.62%

CYP4V2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs1055138
dbSNP Clinvar
187113041 892.59 C G PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.40974 0.40970 0.46360 0.83 0.00 None None None None None None CYP4V2|0.027940176|70.46%
View chu17257-cha-zoe_s2 4 rs3736455
dbSNP Clinvar
187122319 421.72 T G LowDP 1/1 16 SYNONYMOUS_CODING LOW None 0.57748 0.57750 0.36007 None None None None None None CYP4V2|0.027940176|70.46%
View chu17257-cha-zoe_s2 4 rs13146272
dbSNP Clinvar
187120211 2176.59 C A PASS 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.55931 0.55930 0.37175 1.00 0.00 None None None None None None CYP4V2|0.027940176|70.46%

DMP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs10019009
dbSNP Clinvar
88583135 1393.51 A T PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.28894 0.28890 0.27610 0.02 0.97 None None None None None None DMP1|0.009519189|81.24%

DOK7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs4325970
dbSNP Clinvar
3475252 2322.77 T C PASS 1/1 79 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None DOK7|0.017888312|75.35%

DRD5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs6283
dbSNP Clinvar
9784631 1442.06 C T PASS 0/1 103 SYNONYMOUS_CODING LOW None 0.60903 0.60900 None None None None None None SLC2A9|0.040817675|65.52%,DRD5|0.112744756|48.72%

DSPP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs2736982
dbSNP Clinvar
88534235 2077.48 A G PASS 0/1 147 SYNONYMOUS_CODING LOW None 0.67432 0.67430 0.35227 None None None None None None DSPP|0.054175637|61.42%

EGF

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs2237051
dbSNP Clinvar
110901198 517.02 G A PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.61781 0.61780 0.47486 1.00 0.00 None None None None None None EGF|0.999660647|0.29%
View chu17257-cha-zoe_s2 4 rs4698803
dbSNP Clinvar
110914427 1828.68 A T PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.92053 0.92050 0.15108 1.00 0.00 None None None None None None EGF|0.999660647|0.29%

EIF4E

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs62323192
dbSNP Clinvar
99808254 454.43 G A PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.10943 0.10940 0.20775 None None None None None None EIF4E|0.900492309|3.42%

ENAM

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs3796703
dbSNP Clinvar
71509314 1508.48 C T PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.01278 0.01278 0.01139 0.18 0.11 None None None None None None ENAM|0.075985978|56.09%

EPHA5

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 chu17257-cha-zoe_s2 4 rs55860557
dbSNP Clinvar
66535284 702.13 G A PASS 0/1 45 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.11502 0.11500 0.16734 None None None None None None EPHA5|0.80352652|5.73%

ETFDH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs11559290
dbSNP Clinvar
159601676 1409.75 C T PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.67272 0.67270 0.34343 0.31 0.01 None None None None None None ETFDH|0.125810207|46.5%

EVC

Omim - GeneCards - NCBI
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RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs6446393
dbSNP Clinvar
5743509 1721.49 C T PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.96665 0.96670 0.04510 None None None None None None EVC|0.022926838|72.76%
View chu17257-cha-zoe_s2 4 rs6414624
dbSNP Clinvar
5743512 1648.43 T C PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.74481 0.74480 0.29306 0.20 0.02 None None None None None None EVC|0.022926838|72.76%
View chu17257-cha-zoe_s2 4 rs4688963
dbSNP Clinvar
5749904 1506.77 T C PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.47145 0.47140 0.40566 None None None None None None EVC|0.022926838|72.76%,CRMP1|0.148701425|43.19%
View chu17257-cha-zoe_s2 4 rs4688962
dbSNP Clinvar
5749961 1277.92 G C PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.58287 0.58290 0.46755 None None None None None None EVC|0.022926838|72.76%,CRMP1|0.148701425|43.19%
View chu17257-cha-zoe_s2 4 rs33929747
dbSNP Clinvar
5750003 1349.61 A G PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.21745 0.21750 0.27380 None None None None None None EVC|0.022926838|72.76%,CRMP1|0.148701425|43.19%
View chu17257-cha-zoe_s2 4 rs28483498
dbSNP Clinvar
5754579 930.42 C T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.02716 0.02716 0.06620 0.15 0.56 None None None None None None EVC|0.022926838|72.76%,CRMP1|0.148701425|43.19%
View chu17257-cha-zoe_s2 4 rs2302075
dbSNP Clinvar
5755542 6366.37 C A PASS 1/1 212 NON_SYNONYMOUS_CODING MODERATE None 0.84465 0.84460 0.14739 1.00 0.00 None None None None None None EVC|0.022926838|72.76%,CRMP1|0.148701425|43.19%
View chu17257-cha-zoe_s2 4 rs1383180
dbSNP Clinvar
5785442 1701.29 G A PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.30152 0.30150 0.30801 0.04 1.00 None None None None None None EVC|0.022926838|72.76%,CRMP1|0.148701425|43.19%

EVC2

Omim - GeneCards - NCBI
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RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs12511039
dbSNP Clinvar
5570221 628.56 G A PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.44090 0.44090 0.25639 None None None None None None EVC2|0.018780788|74.81%
View chu17257-cha-zoe_s2 4 rs6820907
dbSNP Clinvar
5710189 147.19 G A LowDP 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.21865 0.21870 0.13 0.22 None None None None None None EVC2|0.018780788|74.81%
View chu17257-cha-zoe_s2 4 rs13131655
dbSNP Clinvar
5642274 424.43 T C PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.23003 0.23000 0.29494 None None None None None None EVC2|0.018780788|74.81%
View chu17257-cha-zoe_s2 4 rs730469
dbSNP Clinvar
5624670 1155.64 T C PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.51757 0.51760 0.44595 1.00 0.00 None None None None None None EVC2|0.018780788|74.81%

F11

Omim - GeneCards - NCBI
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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 chu17257-cha-zoe_s2 4 rs5974
dbSNP Clinvar
187201211 2006.44 A G PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.16713 0.16710 0.16631 None None None None None None F11|0.02399549|72.21%
View chu17257-cha-zoe_s2 4 rs5970
dbSNP Clinvar
187205301 4322.55 T C PASS 1/1 157 SYNONYMOUS_CODING LOW None 0.16933 0.16930 0.16692 None None None None None None F11|0.02399549|72.21%

FABP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 4 rs1799883
dbSNP Clinvar
120241902 2063.79 T C PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.74661 0.74660 0.25127 0.08 0.00 None None None None None None FABP2|0.062671479|59.14%
View chu17257-cha-zoe_s2 4 rs4834770
dbSNP Clinvar
120241849 954.4 A G PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.58586 0.58590 0.43523 None None None None None None FABP2|0.062671479|59.14%
View chu17257-cha-zoe_s2 4 rs1511025
dbSNP Clinvar
120240238 158.52 T C LowDP 0/1 14 SYNONYMOUS_CODING LOW None 0.33307 0.33310 0.34413 None None None None None None FABP2|0.062671479|59.14%

FGB

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 chu17257-cha-zoe_s2 4 rs6056
dbSNP Clinvar
155488821 1093.92 C T PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.15336 0.15340 0.15631 None None None None None None FGB|0.115313793|48.24%
View chu17257-cha-zoe_s2 4 rs4681
dbSNP Clinvar
155490832 1677.95 C T PASS 0/1 138 SYNONYMOUS_CODING LOW None 0.13778 0.13780 0.14240 None None None None None None FGB|0.115313793|48.24%
View chu17257-cha-zoe_s2 4 rs4220
dbSNP Clinvar
155491759 613.51 G A PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.15336 0.15340 0.15554 1.00 0.00 None None None None None None FGB|0.115313793|48.24%

FGFBP1

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 chu17257-cha-zoe_s2 4 rs2072313
dbSNP Clinvar
15937731 3081.21 T C PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.91494 0.91490 0.05674 None None None None None None FGFBP1|0.003132741|88.42%

FGFR3

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 chu17257-cha-zoe_s2 4 rs7688609
dbSNP Clinvar
1807894 1926.47 G A PASS 1/1 71 SYNONYMOUS_CODING LOW None 0.95607 0.95610 0.04492 None None None None None None FGFR3|0.776648495|6.4%

FGFRL1

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 chu17257-cha-zoe_s2 4 rs4647942
dbSNP Clinvar
1006333 329.67 G A PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.50939 0.50940 0.40027 None None None None None None FGFRL1|0.054461749|61.34%
View chu17257-cha-zoe_s2 4 rs4647930
dbSNP Clinvar
1018705 563.78 C A PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.13698 0.13700 0.20350 0.19 0.03 None None None None None None FGFRL1|0.054461749|61.34%

FRAS1

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 chu17257-cha-zoe_s2 4 rs753752
dbSNP Clinvar
79372930 566.56 C T PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.57947 0.57950 0.31442 None None None None None None FRAS1|0.159366605|41.67%
View chu17257-cha-zoe_s2 4 rs6851427
dbSNP Clinvar
79385719 1294.5 G A PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.29752 0.29750 0.31030 None None None None None None FRAS1|0.159366605|41.67%
View chu17257-cha-zoe_s2 4 rs7684722
dbSNP Clinvar
79387464 3009.13 A G PASS 1/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.96765 0.96770 0.03049 1.00 0.00 None None None None None None FRAS1|0.159366605|41.67%
View chu17257-cha-zoe_s2 4 rs34840208
dbSNP Clinvar
79387586 843.14 A G PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.31370 0.31370 0.20827 None None None None None None FRAS1|0.159366605|41.67%
View chu17257-cha-zoe_s2 4 rs11098194
dbSNP Clinvar
79400868 245.21 C T SB;LowDP 0/1 15 SYNONYMOUS_CODING LOW None 0.29133 0.29130 0.31080 None None None None None None FRAS1|0.159366605|41.67%
View chu17257-cha-zoe_s2 4 rs147709711
dbSNP Clinvar
79173616 921.53 C G PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.00439 0.00439 0.01626 0.19 0.06 None None None None None None FRAS1|0.159366605|41.67%
View chu17257-cha-zoe_s2 4 rs3749488
dbSNP Clinvar
79432455 866.65 A C PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.40455 0.40460 0.29624 None None None None None None FRAS1|0.159366605|41.67%
View chu17257-cha-zoe_s2 4 rs931606
dbSNP Clinvar
79443850 1377.75 G A PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.51098 0.51100 0.46311 1.00 0.00 None None None None None None FRAS1|0.159366605|41.67%