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Genes at Omim

ALX4, AMPD3, ANO5, ARCN1, BBS1, C2CD3, CDON, CREB3L1, DHCR7, DYNC2H1, EXT2, FAM111A, FANCF, FERMT3, IFITM5, IGHMBP2, INPPL1, LRP4, LRP5, MTMR2, RAPSN, RASGRP2, ROBO3, SERPINH1, SLC39A13, TCIRG1, TMEM216, TNNI2, TNNT3,
ALX4 Frontonasal dysplasia 2, 613451 (3)
Parietal foramina 2, 609597 (3)
{Craniosynostosis 5, susceptibility to}, 615529 (3)
AMPD3 [AMP deaminase deficiency, erythrocytic], 612874 (3)
ANO5 Gnathodiaphyseal dysplasia, 166260 (3)
Miyoshi muscular dystrophy 3, 613319 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3)
ARCN1 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 (3)
BBS1 Bardet-Biedl syndrome 1, 209900 (3)
C2CD3 ?Orofaciodigital syndrome XIV, 615948 (3)
CDON Holoprosencephaly 11, 614226 (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (3)
DHCR7 Smith-Lemli-Opitz syndrome, 270400 (3)
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
EXT2 Exostoses, multiple, type 2, 133701 (3)
?Seizures, scoliosis, and macrocephaly syndrome, 616682 (3)
FAM111A Gracile bone dysplasia, 602361 (3)
Kenny-Caffey syndrome, type 2, 127000 (3)
FANCF Fanconi anemia, complementation group F, 603467 (3)
FERMT3 Leukocyte adhesion deficiency, type III, 612840 (3)
IFITM5 Osteogenesis imperfecta, type V, 610967 (3)
IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3)
Neuronopathy, distal hereditary motor, type VI, 604320 (3)
INPPL1 Opsismodysplasia, 258480 (3)
LRP4 Cenani-Lenz syndactyly syndrome, 212780 (3)
?Myasthenic syndrome, congenital, 17, 616304 (3)
Sclerosteosis 2, 614305 (3)
LRP5 Hyperostosis, endosteal, 144750 (3)
{Osteoporosis}, 166710 (3)
Exudative vitreoretinopathy 4, 601813 (3)
Osteopetrosis, autosomal dominant 1, 607634 (3)
Osteoporosis-pseudoglioma syndrome, 259770 (3)
Osteosclerosis, 144750 (3)
Polycystic liver disease 4 with or without kidney cysts, 617875 (3)
[Bone mineral density variability 1], 601884 (3)
van Buchem disease, type 2, 607636 (3)
MTMR2 Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
RAPSN Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3)
RASGRP2 ?Bleeding disorder, platelet-type, 18, 615888 (3)
ROBO3 Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)
SERPINH1 {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
Osteogenesis imperfecta, type X, 613848 (3)
SLC39A13 Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3)
TCIRG1 Osteopetrosis, autosomal recessive 1, 259700 (3)
TMEM216 Joubert syndrome 2, 608091 (3)
Meckel syndrome 2, 603194 (3)
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
TNNT3 Arthrogryposis, distal, type 2B, 601680 (3)

Genes at Clinical Genomics Database

ALX4, AMPD3, ANO5, BBS1, C2CD3, CDON, CREB3L1, DHCR7, DYNC2H1, EXT2, FAM111A, FANCF, FERMT3, IFITM5, IGHMBP2, INPPL1, LRP4, LRP5, MTMR2, RAPSN, RASGRP2, ROBO3, SERPINH1, SLC39A13, TCIRG1, TMEM216, TNNI2, TNNT3,
ALX4 Parietal foramina 2
Frontonasal dysplasia 2
AMPD3 Erythrocytic AMP deaminase deficiency
ANO5 Gnathodiaphyseal dysplasia
BBS1 Bardet-Biedl syndrome 1
C2CD3 Orofaciodigital syndrome XIV
CDON Holoprosencephaly 11
CREB3L1 Osteogenesis imperfecta, type XVI
DHCR7 Smith-Lemli-Opitz syndrome
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly
EXT2 Exostoses, multiple, type 2
FAM111A Kenny-Caffey syndrome, type 2
FANCF Fanconia anemia, complementation group F
FERMT3 Leukocyte adhesion deficiency, type III
IFITM5 Osteogenesis imperfecta, type V
IGHMBP2 Spinal muscular atrophy, distal, autosomal recessive, 1
Charcot-Marie-Tooth disease, axonal, type 2S
INPPL1 Opsismodysplasia
LRP4 Cenani-Lenz syndactyly syndrome
Myasthenic syndrome, congenital 17
Sclerosteosis 2
LRP5 van Buchem disease, type 2
Osteopetrosis, autosomal dominant 1
Osteosclerosis
Hyperostosis, endosteal
Exudative vitreoretinopathy 4
Osteoporosis-pseudoglioma syndrome
MTMR2 Charcot-Marie-Tooth disease, type 4B1
RAPSN Myasthenic syndrome, congenital 11, associated with acetylcholine receptor deficiency
RASGRP2 Bleeding disorder, platelet-type, 18
ROBO3 Gaze palsy, horizontal, with progressive scoliosis
SERPINH1 Osteogenesis imperfecta, type X
SLC39A13 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
TCIRG1 Osteopetrosis, autosomal recessive 1
TMEM216 Joubert syndrome 2
Meckel syndrome 2
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B
TNNT3 Arthyrgryposis, distal, type 2B

Genes at HGMD

Summary

Number of Variants: 307
Number of Genes: 31

Export to: CSV

ALX4

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 b12 11 . 44331517 1894.77 C G . 0/1 126 SYNONYMOUS_CODING LOW None None None None None None None ALX4|0.690991356|8.75%
View b12 11 rs3824915
dbSNP Clinvar
44331509 2169.77 C G . 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.47264 0.47260 0.42421 0.00 0.12 None None None None None None ALX4|0.690991356|8.75%
View b12 11 rs12421995
dbSNP Clinvar
44331309 1523.77 G A . 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.37201 0.37200 0.54 0.00 None None None None None None ALX4|0.690991356|8.75%
View b12 11 rs10769028
dbSNP Clinvar
44297054 5967.77 T C . 1/1 168 SYNONYMOUS_CODING LOW None 0.99161 0.99160 0.00877 None None None None None None ALX4|0.690991356|8.75%
View b12 11 rs3802805
dbSNP Clinvar
44286566 3634.77 G A . 0/1 235 SYNONYMOUS_CODING LOW None 0.35843 0.35840 0.27461 None None None None None None ALX4|0.690991356|8.75%

AMPD3

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 b12 11 rs3741041
dbSNP Clinvar
10521764 9857.77 T C . 1/1 246 SYNONYMOUS_CODING LOW None 0.36741 0.36740 0.31447 None None None None None None AMPD3|0.504907229|15.58%

ANO5

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 b12 11 rs4312063
dbSNP Clinvar
22242729 155.77 T C . 0/1 25 SYNONYMOUS_CODING LOW None 0.78994 0.78990 0.15557 None None None None None None ANO5|0.057436384|60.57%

ARCN1

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 b12 11 rs11216925
dbSNP Clinvar
118471423 298.77 T C . 0/1 25 SYNONYMOUS_CODING LOW None 0.28035 0.28040 0.14865 None None None None None None ARCN1|0.675421925|9.21%
View b12 11 . 118471362 294.77 A T . 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.17 None None None None None None ARCN1|0.675421925|9.21%

BBS1

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 b12 11 rs2298806
dbSNP Clinvar
66282095 2580.77 G A . 0/1 158 SYNONYMOUS_CODING LOW None 0.21166 0.21170 0.19761 None None None None None None BBS1|0.166866458|40.7%

C2CD3

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 b12 11 rs4453265
dbSNP Clinvar
73785326 2683.77 T C . 0/1 157 SYNONYMOUS_CODING LOW None 0.45108 0.45110 0.45172 None None None None None None C2CD3|0.097252382|51.67%
View b12 11 rs11235995
dbSNP Clinvar
73806443 531.77 C T . 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.22784 0.22780 0.21931 1.00 0.00 None None None None None None C2CD3|0.097252382|51.67%
View b12 11 rs10898957
dbSNP Clinvar
73825503 2199.77 T C . 0/1 147 SYNONYMOUS_CODING LOW None 0.16853 0.16850 0.15617 None None None None None None C2CD3|0.097252382|51.67%

CDON

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 b12 11 rs516664
dbSNP Clinvar
125871735 399.77 C T . 0/1 38 SYNONYMOUS_CODING LOW None 0.30252 0.30250 0.34539 None None None None None None CDON|0.175863279|39.54%
View b12 11 rs3740912
dbSNP Clinvar
125891269 1954.77 C T . 0/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.57228 0.57230 0.35485 0.91 0.01 None None None None None None CDON|0.175863279|39.54%
View b12 11 rs3740904
dbSNP Clinvar
125848261 4420.77 C T . 1/1 126 SYNONYMOUS_CODING LOW None 0.39956 0.39960 0.35646 None None None None None None CDON|0.175863279|39.54%
View b12 11 rs2276061
dbSNP Clinvar
125831701 8489.77 G A . 1/1 230 SYNONYMOUS_CODING LOW None 0.24221 0.24220 0.25308 None None None None None None CDON|0.175863279|39.54%
View b12 11 rs684535
dbSNP Clinvar
125830970 2231.77 A T . 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.27000 1.00 0.00 None None None None None None CDON|0.175863279|39.54%

CREB3L1

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 b12 11 rs79068197,rs386373762
dbSNP Clinvar
46342259 8236.73 A AG . 1/1 210 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00042 None None None None None None CREB3L1|0.229770101|33.39%
View b12 11 rs117481046
dbSNP Clinvar
46332740 818.77 C T . 0/1 97 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00559 0.00559 None None None None None None CREB3L1|0.229770101|33.39%

DHCR7

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 b12 11 rs949177
dbSNP Clinvar
71152461 8930.77 A G . 1/1 239 SYNONYMOUS_CODING LOW None 0.80731 0.80730 0.09001 None None None None None None DHCR7|0.081765547|54.8%
View b12 11 rs75225632
dbSNP Clinvar
71146841 3856.77 G A . 0/1 225 SYNONYMOUS_CODING LOW None 0.01657 0.01657 0.00100 None None None None None None DHCR7|0.081765547|54.8%
View b12 11 rs760241
dbSNP Clinvar
71146691 3864.77 A G . 0/1 236 SYNONYMOUS_CODING LOW None 0.75639 0.75640 0.12881 None None None None None None DHCR7|0.081765547|54.8%
View b12 11 rs1792268
dbSNP Clinvar
71146952 1160.77 G A . 0/1 78 None None None 0.73682 0.73680 0.07 0.86 None None None None None None DHCR7|0.081765547|54.8%
View b12 11 rs1790334
dbSNP Clinvar
71155153 9136.77 A G . 1/1 240 SYNONYMOUS_CODING LOW None 0.81010 0.81010 0.08708 None None None None None None DHCR7|0.081765547|54.8%

DYNC2H1

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 b12 11 rs658804
dbSNP Clinvar
103057048 1231.77 A G . 0/1 89 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.40245 None None None None None None DYNC2H1|0.272755366|29.66%
View b12 11 rs17301750
dbSNP Clinvar
103027234 411.77 A G . 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.07628 0.07628 0.08772 0.57 0.01 None None None None None None DYNC2H1|0.272755366|29.66%
View b12 11 rs17301182
dbSNP Clinvar
102991197 217.77 C T . 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.07169 0.07169 0.09045 0.13 0.17 None None None None None None DYNC2H1|0.272755366|29.66%
View b12 11 rs586592
dbSNP Clinvar
103058126 1273.77 C T . 0/1 83 SYNONYMOUS_CODING LOW None 0.61701 0.61700 0.35624 None None None None None None DYNC2H1|0.272755366|29.66%
View b12 11 rs589623
dbSNP Clinvar
103082590 59.74 G A . 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.73842 0.73840 0.24556 0.32 0.09 None None None None None None DYNC2H1|0.272755366|29.66%
View b12 11 rs12574626
dbSNP Clinvar
103152919 155.77 G A . 0/1 15 SYNONYMOUS_CODING LOW None 0.19369 0.19370 0.19203 None None None None None None DYNC2H1|0.272755366|29.66%
View b12 11 rs585692
dbSNP Clinvar
103047007 781.77 C A . 1/1 21 SYNONYMOUS_CODING LOW None 0.93131 0.93130 0.05539 None None None None None None DYNC2H1|0.272755366|29.66%
View b12 11 rs11225634
dbSNP Clinvar
103124135 351.77 T G . 0/1 30 SYNONYMOUS_CODING LOW None 0.18111 0.18110 0.17940 None None None None None None DYNC2H1|0.272755366|29.66%
View b12 11 rs2566913
dbSNP Clinvar
103229027 1693.77 T C . 1/1 53 SYNONYMOUS_CODING LOW None 0.49501 0.49500 0.44159 None None None None None None DYNC2H1|0.272755366|29.66%

EXT2

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 b12 11 rs4755228
dbSNP Clinvar
44129290 2456.77 C A . 0/1 157 SYNONYMOUS_CODING LOW None 0.07808 0.07808 0.00584 None None None None None None EXT2|0.524478579|14.77%

FAM111A

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 b12 11 rs10896928
dbSNP Clinvar
58919813 1583.77 A G . 0/1 104 SYNONYMOUS_CODING LOW None 0.28115 0.28120 0.25454 None None None None None None FAM111A|0.001120251|94.85%

FANCF

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 b12 11 rs11026706
dbSNP Clinvar
22646571 2510.77 T C . 0/1 157 SYNONYMOUS_CODING LOW None 0.02256 0.02256 0.00062 None None None None None None FANCF|0.011173944|79.88%

FERMT3

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 b12 11 rs3802932
dbSNP Clinvar
63988045 3182.76 G A . 0/1 176 SYNONYMOUS_CODING LOW None 0.16534 0.16530 0.07037 None None None None None None FERMT3|0.07725167|55.83%

IFITM5

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 b12 11 rs57285449
dbSNP Clinvar
299411 2689.77 C G . 0/1 166 NON_SYNONYMOUS_CODING MODERATE None 0.59265 0.59270 0.38807 0.20 0.01 None None None None None None None

IGHMBP2

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 b12 11 rs17612126
dbSNP Clinvar
68705674 1039.77 C A . 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.19709 0.19710 0.21012 0.44 0.03 None None None None None None IGHMBP2|0.010106738|80.78%
View b12 11 rs560096
dbSNP Clinvar
68678962 2221.77 T C . 0/1 166 NON_SYNONYMOUS_CODING MODERATE None 0.68051 0.68050 0.22144 1.00 0.00 None None None None None None IGHMBP2|0.010106738|80.78%
View b12 11 rs1249463
dbSNP Clinvar
68671477 1956.77 T C . 0/1 133 SYNONYMOUS_CODING LOW None 0.67512 0.67510 0.21239 None None None None None None IGHMBP2|0.010106738|80.78%

INPPL1

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 b12 11 rs2276048
dbSNP Clinvar
71941212 3602.77 A G . 0/1 236 SYNONYMOUS_CODING LOW None 0.36222 0.36220 0.28030 None None None None None None INPPL1|0.351693164|23.97%

LRP4

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 b12 11 rs10838631
dbSNP Clinvar
46914583 3922.77 T C . 1/1 120 SYNONYMOUS_CODING LOW None 0.98083 0.98080 0.02077 None None None None None None LRP4|0.507499481|15.5%
View b12 11 rs2306033
dbSNP Clinvar
46897446 8620.77 G A . 1/1 235 NON_SYNONYMOUS_CODING MODERATE None 0.21925 0.21920 0.09223 0.34 0.00 None None None None None None LRP4|0.507499481|15.5%
View b12 11 rs2290883
dbSNP Clinvar
46890197 4164.77 G A . 1/1 119 SYNONYMOUS_CODING LOW None 0.21925 0.21920 0.09231 None None None None None None LRP4|0.507499481|15.5%
View b12 11 rs10769215
dbSNP Clinvar
46914598 4070.77 A G . 1/1 123 SYNONYMOUS_CODING LOW None 0.99461 0.99460 0.00423 None None None None None None LRP4|0.507499481|15.5%

LRP5

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 b12 11 rs556442
dbSNP Clinvar
68192690 9296.77 G A . 1/1 236 SYNONYMOUS_CODING LOW None 0.57927 0.57930 0.47351 None None None None None None LRP5|0.688053439|8.86%
View b12 11 rs545382
dbSNP Clinvar
68171013 8764.77 T C . 1/1 237 SYNONYMOUS_CODING LOW None 0.84145 0.84150 0.18463 None None None None None None LRP5|0.688053439|8.86%

MTMR2

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 b12 11 rs3824874
dbSNP Clinvar
95657111 781.77 T G . 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.21286 0.21290 0.23982 0.04 0.01 None None None None None None MTMR2|0.352025802|23.95%
View b12 11 rs566204
dbSNP Clinvar
95580926 1338.77 G A . 0/1 93 SYNONYMOUS_CODING LOW None 0.20927 0.20930 0.29805 None None None None None None MTMR2|0.352025802|23.95%

RAPSN

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 b12 11 rs7111873
dbSNP Clinvar
47469439 2802.77 A G . 0/1 179 SYNONYMOUS_CODING LOW None 0.62560 0.62560 0.37989 None None None None None None RAPSN|0.501191515|15.77%
View b12 11 rs7126210
dbSNP Clinvar
47460306 687.77 A G . 0/1 61 SYNONYMOUS_CODING LOW None 0.62480 0.62480 0.38769 None None None None None None RAPSN|0.501191515|15.77%

RASGRP2

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 b12 11 rs2230414
dbSNP Clinvar
64496357 2620.77 G T . 0/1 158 SYNONYMOUS_CODING LOW None 0.18590 0.18590 0.10349 None None None None None None RASGRP2|0.194610558|37.32%

ROBO3

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 b12 11 rs7933204
dbSNP Clinvar
124747837 1165.77 G A . 0/1 82 SYNONYMOUS_CODING LOW None 0.63199 0.63200 0.27120 None None None None None None ROBO3|0.115094559|48.29%
View b12 11 rs55706177
dbSNP Clinvar
124746180 1277.77 C T . 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.11082 0.11080 0.08941 0.37 0.09 None None None None None None ROBO3|0.115094559|48.29%
View b12 11 rs74787566
dbSNP Clinvar
124744033 2457.77 G A . 0/1 198 NON_SYNONYMOUS_CODING MODERATE None 0.00479 0.00479 0.00031 0.03 0.98 None None None None None None ROBO3|0.115094559|48.29%

SERPINH1

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 b12 11 rs651581
dbSNP Clinvar
75277992 3673.77 C T . 0/1 234 SYNONYMOUS_CODING LOW None 0.29932 0.29930 0.42570 None None None None None None SERPINH1|0.421887911|19.52%
View b12 11 rs584961
dbSNP Clinvar
75277628 9483.77 A G . 1/1 237 SYNONYMOUS_CODING LOW None 0.88998 0.89000 0.08699 None None None None None None SERPINH1|0.421887911|19.52%

SLC39A13

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 b12 11 rs2010519
dbSNP Clinvar
47431728 4580.77 A G . 1/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.94050 0.94050 0.05587 1.00 0.00 None None None None None None SLC39A13|0.189426041|37.88%
View b12 11 rs2293576
dbSNP Clinvar
47434986 2703.77 G A . 0/1 171 SYNONYMOUS_CODING LOW None 0.27057 0.27060 0.24581 None None None None None None SLC39A13|0.189426041|37.88%

SOX6

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 b12 11 rs4617548
dbSNP Clinvar
16133413 3084.77 A G . 1/1 101 SYNONYMOUS_CODING LOW None 0.50579 0.50580 0.48953 None None None None None None SOX6|0.997679064|0.59%

TCIRG1

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 b12 11 rs2471829
dbSNP Clinvar
67814979 9041.77 G C . 1/1 240 SYNONYMOUS_CODING LOW None 0.96985 0.96980 0.02502 None None None None None None TCIRG1|0.050602528|62.47%

TM7SF2

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 b12 11 rs4930284
dbSNP Clinvar
64880090 1883.77 G C . 1/1 52 SYNONYMOUS_CODING LOW None 0.00040 0.99640 0.00086 None None None None None None TM7SF2|0.06257636|59.18%
View b12 11 rs1129195
dbSNP Clinvar
64882789 4856.77 C T . 1/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.36522 0.36520 0.40388 0.58 0.00 None None None None None None TM7SF2|0.06257636|59.18%

TMEM216

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 b12 11 rs3741265
dbSNP Clinvar
61165280 5690.77 G A . 1/1 163 SYNONYMOUS_CODING LOW None 0.85583 0.85580 0.16773 None None None None None None TMEM216|0.348803049|24.23%
View b12 11 rs10897158
dbSNP Clinvar
61165741 4152.77 G C . 1/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.71965 0.71960 0.29612 0.16 0.01 None None None None None None TMEM216|0.348803049|24.23%

TNNI2

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 b12 11 rs907610
dbSNP Clinvar
1861760 6658.77 T C . 1/1 188 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.82768 0.82770 0.19676 None None None None None None TNNI2|0.034249136|67.71%

TNNT3

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 b12 11 rs4727
dbSNP Clinvar
1959707 3546.77 C T . 1/1 100 SYNONYMOUS_CODING LOW None 0.13698 0.13700 0.11446 None None None None None None TNNT3|0.081518534|54.88%
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 b12 11 rs16909782
dbSNP Clinvar
22646126 43.77 A G . 0/1 6 None None None 0.02276 0.02276 None None None None None None FANCF|0.011173944|79.88%
View b12 11 rs1466426
dbSNP Clinvar
10518289 4098.77 T C . 1/1 106 None None None 0.72644 0.72640 None None None None None None AMPD3|0.504907229|15.58%
View b12 11 rs2303439
dbSNP Clinvar
36514290 350.78 T C . 1/1 11 None None None 0.77197 0.77200 None None None None None None TRAF6|0.200523121|36.71%
View b12 11 rs3830511
dbSNP Clinvar
36518824 1259.73 T TA . 1/1 48 None None None 0.77516 0.77520 None None None None None None TRAF6|0.200523121|36.71%
View b12 11 rs11037860
dbSNP Clinvar
44117898 6731.77 T G . 1/1 183 None None None 0.74181 0.74180 None None None None None None EXT2|0.524478579|14.77%
View b12 11 rs11037864
dbSNP Clinvar
44129086 102.77 A T . 0/1 13 None None None 0.21645 0.21650 None None None None None None EXT2|0.524478579|14.77%
View b12 11 rs3802917
dbSNP Clinvar
10508938 1512.77 T C . 0/1 100 None None None 0.27236 0.27240 0.23072 None None None None None None AMPD3|0.504907229|15.58%
View b12 11 rs10769018
dbSNP Clinvar
44146257 1194.77 A G . 1/1 30 None None None 0.02776 0.75960 None None None None None None EXT2|0.524478579|14.77%
View b12 11 rs7125352
dbSNP Clinvar
44151457 3150.77 T C . 1/1 79 None None None 0.90535 0.90540 None None None None None None EXT2|0.524478579|14.77%
View b12 11 rs11037881
dbSNP Clinvar
44151480 1559.77 G T . 0/1 102 None None None 0.29153 0.29150 None None None None None None EXT2|0.524478579|14.77%
View b12 11 rs11037882
dbSNP Clinvar
44151577 3315.77 T A . 0/1 214 None None None 0.32089 0.32090 0.23370 None None None None None None EXT2|0.524478579|14.77%
View b12 11 rs4755233
dbSNP Clinvar
44219286 380.77 C T . 0/1 44 None None None 0.50539 0.50540 None None None None None None EXT2|0.524478579|14.77%
View b12 11 rs11037909
dbSNP Clinvar
44255614 1157.77 T C . 0/1 61 None None None 0.31190 0.31190 0.22539 None None None None None None EXT2|0.524478579|14.77%
View b12 11 rs151110171
dbSNP Clinvar
44257708 316.73 GGT G . 0/1 81 None None None None None None None None None EXT2|0.524478579|14.77%
View b12 11 rs7113101
dbSNP Clinvar
10506707 393.77 C T . 0/1 26 None None None 0.68750 0.68750 None None None None None None AMPD3|0.504907229|15.58%
View b12 11 rs3740878
dbSNP Clinvar
44257802 2615.77 T C . 0/1 189 None None None 0.30052 0.30050 0.20871 None None None None None None EXT2|0.524478579|14.77%
View b12 11 rs7128132
dbSNP Clinvar
10506259 2408.77 A G . 1/1 61 None None None 0.94429 0.94430 None None None None None None AMPD3|0.504907229|15.58%
View b12 11 rs10742699
dbSNP Clinvar
44289289 1528.77 A G . 1/1 39 None None None 0.79014 0.79010 None None None None None None ALX4|0.690991356|8.75%
View b12 11 rs10769024
dbSNP Clinvar
44289312 139.77 C G . 0/1 23 None None None 0.60363 0.60360 None None None None None None ALX4|0.690991356|8.75%
View b12 11 rs11037927
dbSNP Clinvar
44296828 795.77 C T . 0/1 54 None None None 0.39437 0.39440 None None None None None None ALX4|0.690991356|8.75%
View b12 11 rs10770119
dbSNP Clinvar
10506255 1077.77 G T . 0/1 54 None None None 0.56929 0.56930 None None None None None None AMPD3|0.504907229|15.58%
View b12 11 rs2071016
dbSNP Clinvar
10518521 5739.77 C T . 1/1 156 None None None 0.47923 0.47920 0.48245 None None None None None None AMPD3|0.504907229|15.58%
View b12 11 rs11037929
dbSNP Clinvar
44297253 2500.77 A G . 1/1 69 None None None 0.93590 0.93590 0.07098 None None None None None None ALX4|0.690991356|8.75%
View b12 11 rs11037930
dbSNP Clinvar
44297343 1077.77 C A . 1/1 26 None None None 0.99062 0.99060 None None None None None None ALX4|0.690991356|8.75%
View b12 11 rs7937988
dbSNP Clinvar
10503881 759.77 A G . 1/1 20 None None None 0.99880 0.99880 None None None None None None AMPD3|0.504907229|15.58%
View b12 11 rs3741043
dbSNP Clinvar
10499995 1124.77 G A . 0/1 71 None None None 0.11542 0.11540 None None None None None None AMPD3|0.504907229|15.58%
View b12 11 rs67946579
dbSNP Clinvar
46342081 6960.73 TG T . 1/1 194 None None None 1.00000 1.00000 0.00008 None None None None None None CREB3L1|0.229770101|33.39%
View b12 11 rs35417007,rs398075717,rs397849293
dbSNP Clinvar
10472492 610.73 GC G . 0/1 25 None None None 0.52995 0.53000 0.44330 None None None None None None AMPD3|0.504907229|15.58%
View b12 11 rs10500716
dbSNP Clinvar
10024311 84.77 A G . 0/1 6 None None None 0.20667 0.20670 None None None None None None SBF2|0.666536202|9.49%
View b12 11 rs4752946
dbSNP Clinvar
46896908 2687.77 G C . 1/1 66 None None None 0.25379 0.25380 None None None None None None LRP4|0.507499481|15.5%
View b12 11 rs7128234
dbSNP Clinvar
10022585 111.77 A T . 0/1 11 None None None 0.18431 0.18430 0.16210 None None None None None None SBF2|0.666536202|9.49%