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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

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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
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Genes at Omim

ARSB, B4GALT7, CCT5, CEP120, FAM134B, FBN2, HEXB, HSPB3, MSX2, NIPBL, NSD1, PITX1, SH3PXD2B, SH3TC2, SLC26A2, TCOF1, XRCC4,
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
B4GALT7 Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CEP120 Joubert syndrome 31, 617761 (3)
Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
FBN2 Contractural arachnodactyly, congenital, 121050 (3)
Macular degeneration, early-onset, 616118 (3)
HEXB Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
HSPB3 ?Neuronopathy, distal hereditary motor, type IIC, 613376 (3)
MSX2 Craniosynostosis 2, 604757 (3)
Parietal foramina 1, 168500 (3)
Parietal foramina with cleidocranial dysplasia, 168550 (3)
NIPBL Cornelia de Lange syndrome 1, 122470 (3)
NSD1 Leukemia, acute myeloid, 601626 (1)
Sotos syndrome 1, 117550 (3)
PITX1 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3)
Liebenberg syndrome, 186550 (4)
SH3PXD2B Frank-ter Haar syndrome, 249420 (3)
SH3TC2 Charcot-Marie-Tooth disease, type 4C, 601596 (3)
Mononeuropathy of the median nerve, mild, 613353 (3)
SLC26A2 Atelosteogenesis, type II, 256050 (3)
De la Chapelle dysplasia, 256050 (3)
Diastrophic dysplasia, 222600 (3)
Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3)
Epiphyseal dysplasia, multiple, 4, 226900 (3)
Achondrogenesis Ib, 600972 (3)
TCOF1 Treacher Collins syndrome 1, 154500 (3)
XRCC4 Short stature, microcephaly, and endocrine dysfunction, 616541 (3)

Genes at Clinical Genomics Database

ARSB, B4GALT7, CCT5, CEP120, FAM134B, FBN2, HEXB, HSPB3, MSX2, NIPBL, NSD1, PITX1, SH3PXD2B, SH3TC2, SLC26A2, TCOF1, XRCC4,
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
B4GALT7 Ehlers-Danlos syndrome with short stature and limb anomalies
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
CEP120 Short-rib thoracic dysplasia 13 with or without polydactyly
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB
FBN2 Congenital contractural arachnodactyly (Beals syndrome)
HEXB Sandhoff disease
HSPB3 Neuronopathy, distal hereditary motor, type IIC
MSX2 Craniosynostosis, type 2
Parietal foramina with cleidocranial dysplasia
Parietal foramina 1
NIPBL Cornelia de Lange syndrome 1
NSD1 Sotos syndrome
Weaver syndrome
Beckwith-Wiedemann syndrome
PITX1 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
Liebenberg syndrome
SH3PXD2B Frank-ter Haar syndrome
SH3TC2 Charcot-Marie-Tooth disease, type 4C
Mononeuropathy of the median nerve, mild
SLC26A2 Achondrogenesis, type IB
Atelosteogenesis II
De la Chapelle dysplasia
Diastrophic dysplasia
Epiphyseal dysplasia, multiple, 4
TCOF1 Treacher Collins syndrome 1
XRCC4 Short stature, microcephaly, and endocrine dysfunction

Genes at HGMD

Summary

Number of Variants: 196
Number of Genes: 20

Export to: CSV

ARSB

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 5 rs1065757
dbSNP Clinvar
78181477 1336.77 C T . 0/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.28554 0.28550 0.32470 0.06 0.89 None None None None None None ARSB|0.08485524|54.24%

B4GALT7

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 5 rs11537644
dbSNP Clinvar
177031348 4413.77 T C . 1/1 119 SYNONYMOUS_CODING LOW None 0.66134 0.66130 0.36735 None None None None None None B4GALT7|0.160454345|41.46%
View b12 5 rs729459
dbSNP Clinvar
177035964 5877.77 T C . 1/1 162 SYNONYMOUS_CODING LOW None 0.60503 0.60500 0.42519 None None None None None None B4GALT7|0.160454345|41.46%

CCT5

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 5 rs2548546
dbSNP Clinvar
10250430 2985.77 G A . 1/1 89 None None None 0.68530 0.68530 0.28702 0.00 None None None None None None None
View b12 5 rs2578617
dbSNP Clinvar
10254817 3508.77 A G . 1/1 100 SYNONYMOUS_CODING LOW None 0.68590 0.68590 0.28133 None None None None None None None
View b12 5 rs2578618
dbSNP Clinvar
10250443 3405.77 T C . 1/1 94 START_GAINED LOW None 0.68530 0.68530 0.28195 0.00 None None None None None None None
View b12 5 rs1042392
dbSNP Clinvar
10256161 5446.77 T C . 1/1 160 SYNONYMOUS_CODING LOW None 0.69249 0.69250 0.27264 None None None None None None None

CEP120

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 5 rs6595440
dbSNP Clinvar
122718736 571.77 G C . 1/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.41234 0.41230 0.39109 0.00 1.00 None None None None None None CEP120|0.184727315|38.38%
View b12 5 rs1047438
dbSNP Clinvar
122682348 2468.77 A G . 1/1 80 SYNONYMOUS_CODING LOW None 0.68271 0.68270 0.27041 None None None None None None CEP120|0.184727315|38.38%
View b12 5 rs6876883
dbSNP Clinvar
122727026 1162.77 G A . 1/1 32 SYNONYMOUS_CODING LOW None 0.46126 0.46130 0.44030 None None None None None None CEP120|0.184727315|38.38%
View b12 5 rs1047437
dbSNP Clinvar
122685727 1668.77 C G . 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.18530 0.18530 0.15503 1.00 0.00 None None None None None None CEP120|0.184727315|38.38%

FAM134B

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 5 rs162848
dbSNP Clinvar
16478200 276.77 G A . 0/1 22 SYNONYMOUS_CODING LOW None 0.67752 0.67750 0.26937 None None None None None None FAM134B|0.118709498|47.64%

FBN2

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 5 rs154001
dbSNP Clinvar
127685135 3297.77 C T . 1/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.73103 0.73100 0.33784 0.37 0.00 None None None None None None FBN2|0.394987399|21.09%
View b12 5 rs190450
dbSNP Clinvar
127614472 4380.77 A G . 1/1 128 SYNONYMOUS_CODING LOW None 0.72664 0.72660 0.32208 None None None None None None FBN2|0.394987399|21.09%
View b12 5 rs32209
dbSNP Clinvar
127622491 1263.77 T C . 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.23283 0.23280 0.09780 0.32 0.00 None None None None None None FBN2|0.394987399|21.09%

HEXB

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 5 rs820878
dbSNP Clinvar
73981270 8230.77 T C . 1/1 237 NON_SYNONYMOUS_CODING MODERATE None 0.98143 0.98140 0.03066 1.00 0.00 None None None None None None HEXB|0.021508316|73.45%

HSPB3

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 5 rs7823
dbSNP Clinvar
53751988 7510.77 T C . 1/1 213 SYNONYMOUS_CODING LOW None 0.57788 0.57790 0.33969 None None None None None None HSPB3|0.055815155|60.97%
View b12 5 rs7699
dbSNP Clinvar
53751901 7792.77 G A . 1/1 220 SYNONYMOUS_CODING LOW None 0.48263 0.48260 0.44526 None None None None None None HSPB3|0.055815155|60.97%

KIF3A

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 5 rs3798130
dbSNP Clinvar
132042146 478.77 C T . 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.43371 0.43370 0.57 0.00 None None None None None None KIF3A|0.779999913|6.32%

MSX2

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 5 rs4242182
dbSNP Clinvar
174156168 2481.77 T C . 1/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.76578 0.76580 0.24473 0.13 0.00 None None None None None None MSX2|0.979010378|1.48%

MYO10

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 5 rs7737765
dbSNP Clinvar
16794780 3250.77 G A . 0/1 225 NON_SYNONYMOUS_CODING MODERATE None 0.19329 0.19330 0.14808 0.13 0.45 None None None None None None MYO10|0.141886283|44.16%
View b12 5 rs25901
dbSNP Clinvar
16673975 2605.77 C G . 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.82368 0.82370 0.24733 1.00 0.00 None None None None None None MYO10|0.141886283|44.16%
View b12 5 rs11750538
dbSNP Clinvar
16769273 451.77 G A . 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.48123 0.48120 0.46837 0.33 0.72 None None None None None None MYO10|0.141886283|44.16%
View b12 5 rs396514
dbSNP Clinvar
16794916 3530.77 G A . 0/1 227 SYNONYMOUS_CODING LOW None 0.26198 0.26200 0.31776 None None None None None None MYO10|0.141886283|44.16%

NIPBL

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 5 . 37051934 253.77 C T . 0/1 22 SYNONYMOUS_CODING LOW None None None None None None None NIPBL|0.918653114|3.01%

NSD1

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 5 rs28932178
dbSNP Clinvar
176637576 1602.77 T C . 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.24960 0.24960 0.12633 0.27 0.85 None None None None None None NSD1|0.279087649|29.19%
View b12 5 rs28580074
dbSNP Clinvar
176721198 2565.77 T C . 0/1 163 SYNONYMOUS_CODING LOW None 0.77137 0.77140 0.10103 None None None None None None NSD1|0.279087649|29.19%
View b12 5 rs3733875
dbSNP Clinvar
176637240 1236.77 G T . 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.22863 0.22860 0.09934 0.70 0.00 None None None None None None NSD1|0.279087649|29.19%
View b12 5 rs1363405
dbSNP Clinvar
176636882 1305.77 C T . 0/1 96 SYNONYMOUS_CODING LOW None 0.46805 0.46810 0.35414 None None None None None None NSD1|0.279087649|29.19%
View b12 5 rs3733874
dbSNP Clinvar
176637149 1216.77 G A . 0/1 86 SYNONYMOUS_CODING LOW None 0.10043 None None None None None None NSD1|0.279087649|29.19%

PITX1

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 5 rs479632
dbSNP Clinvar
134364518 1997.77 C G . 0/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.31989 0.31990 0.21659 0.50 0.06 None None None None None None PITX1|0.672494217|9.31%

SH3PXD2B

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 5 rs138316493
dbSNP Clinvar
171777382 940.77 C T . 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.00008 1.00 0.00 None None None None None None SH3PXD2B|0.062507541|59.2%
View b12 5 rs3812017
dbSNP Clinvar
171766825 2140.77 C G . 0/1 134 SYNONYMOUS_CODING LOW None 0.04972 0.04972 0.04544 None None None None None None SH3PXD2B|0.062507541|59.2%

SH3TC2

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 5 rs1432793
dbSNP Clinvar
148408101 3250.77 A G . 0/1 226 SYNONYMOUS_CODING LOW None 0.43710 0.43710 0.48470 None None None None None None SH3TC2|0.11815413|47.72%
View b12 5 rs17722209
dbSNP Clinvar
148406386 3108.77 T C . 0/1 184 None None None 0.16374 0.16370 0.15147 0.21 0.01 None None None None None None SH3TC2|0.11815413|47.72%
View b12 5 rs1432794
dbSNP Clinvar
148407708 5761.77 A C . 1/1 149 SYNONYMOUS_CODING LOW None 0.99062 0.99060 0.02230 None None None None None None SH3TC2|0.11815413|47.72%
View b12 5 rs6871030
dbSNP Clinvar
148386525 2410.77 T G . 0/1 165 SYNONYMOUS_CODING LOW None 0.14637 0.14640 0.45971 None None None None None None SH3TC2|0.11815413|47.72%

SLC26A2

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 5 rs3776070
dbSNP Clinvar
149361221 1835.77 A T . 0/1 118 NON_SYNONYMOUS_CODING MODERATE None 0.19289 0.19290 0.19383 1.00 0.00 None None None None None None SLC26A2|0.126085569|46.46%
View b12 5 rs30832
dbSNP Clinvar
149360877 3047.77 T C . 1/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.00677 0.84 0.00 None None None None None None SLC26A2|0.126085569|46.46%

TCF7

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 5 rs30489
dbSNP Clinvar
133481467 3256.77 G A . 0/1 201 None None None 0.15336 0.15340 0.06454 0.01 0.00 None None None None None None TCF7|0.879727049|3.97%

TCOF1

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 5 rs2071238
dbSNP Clinvar
149754991 1014.77 C T . 0/1 87 SYNONYMOUS_CODING LOW None 0.15875 0.15870 0.18338 None None None None None None TCOF1|0.029215491|69.76%
View b12 5 rs2071240
dbSNP Clinvar
149755744 2439.77 G C . 0/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.06050 0.06050 0.05791 0.06 1.00 None None None None None None TCOF1|0.029215491|69.76%
View b12 5 rs2071239
dbSNP Clinvar
149755421 2917.77 A G . 0/1 199 SYNONYMOUS_CODING LOW None 0.16254 0.16250 0.19076 None None None None None None TCOF1|0.029215491|69.76%
View b12 5 rs7715100
dbSNP Clinvar
149763305 1378.77 A G . 0/1 88 None None None 0.15775 0.15770 0.15956 0.04 0.00 None None None None None None TCOF1|0.029215491|69.76%
View b12 5 rs72492454
dbSNP Clinvar
149754365 2726.77 G A . 0/1 182 SYNONYMOUS_CODING LOW None 0.00359 0.00359 0.00015 None None None None None None TCOF1|0.029215491|69.76%
View b12 5 rs7713638
dbSNP Clinvar
149759096 3357.77 T C . 0/1 204 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.16274 0.16270 0.19122 0.80 0.00 None None None None None None TCOF1|0.029215491|69.76%

XRCC4

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 5 rs1056503
dbSNP Clinvar
82648977 32.77 T G . 0/1 9 SYNONYMOUS_CODING LOW None 0.37560 0.37560 0.23047 None None None None None None XRCC4|0.324520999|25.84%
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 5 rs7710976
dbSNP Clinvar
16877701 5055.77 C G . 1/1 154 None None None 0.27376 0.27380 0.33567 None None None None None None MYO10|0.141886283|44.16%
View b12 5 rs549379132,rs56022335
dbSNP Clinvar
32710965 77.73 GT G . 0/1 51 None None None 0.19109 0.19110 None None None None None None NPR3|0.308047181|26.99%
View b12 5 rs1173743
dbSNP Clinvar
32775047 1391.77 G T . 1/1 36 None None None 0.62340 0.62340 None None None None None None NPR3|0.308047181|26.99%
View b12 5 rs159753
dbSNP Clinvar
37007629 75.77 T C . 0/1 11 None None None 0.62201 0.62200 None None None None None None NIPBL|0.918653114|3.01%
View b12 5 rs300060
dbSNP Clinvar
37019354 65.77 G A . 0/1 14 None None None 0.61921 0.61920 None None None None None None NIPBL|0.918653114|3.01%
View b12 5 rs301859
dbSNP Clinvar
37045841 397.56 A G . 0/1 12 None None None 0.62101 0.62100 None None None None None None NIPBL|0.918653114|3.01%
View b12 5 rs3729741
dbSNP Clinvar
38496779 1372.77 C T . 1/1 37 None None None 0.31869 0.31870 None None None None None None LIFR|0.085028401|54.2%
View b12 5 rs16903989
dbSNP Clinvar
38504303 95.28 A T . 1/1 3 None None None 0.31550 0.31550 None None None None None None LIFR|0.085028401|54.2%
View b12 5 rs34968906,rs397690301
dbSNP Clinvar
38510481 309.74 AC A . 1/1 10 None None None 0.47764 0.47760 None None None None None None LIFR|0.085028401|54.2%
View b12 5 rs1037033
dbSNP Clinvar
38512154 976.77 T C . 1/1 25 None None None 0.32388 0.32390 None None None None None None LIFR|0.085028401|54.2%
View b12 5 rs768501276
dbSNP Clinvar
38528967 1699.73 CA... C . 0/1 20 None None None 0.23495 None None None None None None LIFR|0.085028401|54.2%
View b12 5 rs71604901
dbSNP Clinvar
38528969 434.38 CA... C . 1/1 20 None None None 0.23495 None None None None None None LIFR|0.085028401|54.2%
View b12 5 rs11293177,rs796845023
dbSNP Clinvar
38530485 64.25 CA C . 1/1 3 None None None 0.86941 0.86940 None None None None None None LIFR|0.085028401|54.2%
View b12 5 rs2290070
dbSNP Clinvar
44305309 1011.77 C G . 0/1 80 None None None 0.18391 0.18390 0.16239 None None None None None None FGF10|0.998100205|0.55%
View b12 5 rs6881797
dbSNP Clinvar
44310492 838.77 A T . 0/1 53 None None None 0.23263 0.23260 0.21000 None None None None None None FGF10|0.998100205|0.55%
View b12 5 rs10051847
dbSNP Clinvar
58271696 54.77 C T . 0/1 17 None None None 0.16214 0.16210 0.14677 None None None None None None PDE4D|0.8692191|4.24%
View b12 5 rs3763084
dbSNP Clinvar
58272116 485.77 G A . 0/1 36 None None None 0.16274 0.16270 None None None None None None PDE4D|0.8692191|4.24%
View b12 5 rs3763083
dbSNP Clinvar
58272361 151.77 C T . 0/1 13 None None None 0.16274 0.16270 None None None None None None PDE4D|0.8692191|4.24%
View b12 5 rs3805557
dbSNP Clinvar
58284208 196.77 C T . 0/1 9 None None None 0.80831 0.80830 None None None None None None PDE4D|0.8692191|4.24%
View b12 5 rs3805556
dbSNP Clinvar
58284283 347.77 G A . 0/1 23 None None None 0.86701 0.86700 0.12939 None None None None None None PDE4D|0.8692191|4.24%
View b12 5 rs11373971,rs11421072,rs11387250
dbSNP Clinvar
58285813 129.73 T TA . 0/1 16 None None None 0.11741 0.67670 None None None None None None PDE4D|0.8692191|4.24%
View b12 5 rs1553114
dbSNP Clinvar
58286625 470.77 C T . 0/1 28 None None None 0.80931 0.80930 0.18347 None None None None None None PDE4D|0.8692191|4.24%
View b12 5 rs1973451
dbSNP Clinvar
58286836 78.77 A G . 0/1 7 None None None 0.84105 0.84110 None None None None None None PDE4D|0.8692191|4.24%
View b12 5 rs1973450
dbSNP Clinvar
58286867 81.77 G T . 0/1 6 None None None 0.80751 0.80750 None None None None None None PDE4D|0.8692191|4.24%
View b12 5 rs148212719
dbSNP Clinvar
58287554 95.73 AAC A . 0/1 4 None None None 0.15256 0.15260 None None None None None None PDE4D|0.8692191|4.24%
View b12 5 rs7737685
dbSNP Clinvar
58289046 78.77 G T . 0/1 7 None None None 0.84066 0.84070 None None None None None None PDE4D|0.8692191|4.24%
View b12 5 rs7724713
dbSNP Clinvar
58289334 108.77 A G . 0/1 15 None None None 0.80990 0.80990 0.18157 None None None None None None PDE4D|0.8692191|4.24%
View b12 5 rs2279737
dbSNP Clinvar
58334645 1360.77 A G . 0/1 83 None None None 0.18311 0.18310 0.24265 None None None None None None PDE4D|0.8692191|4.24%
View b12 5 rs1445950
dbSNP Clinvar
58489218 45.77 G A . 0/1 3 None None None 0.78035 0.78040 None None None None None None PDE4D|0.8692191|4.24%
View b12 5 rs27175
dbSNP Clinvar
58489384 1229.77 G A . 1/1 39 None None None 0.97604 0.97600 0.00025 None None None None None None PDE4D|0.8692191|4.24%
View b12 5 rs6450512
dbSNP Clinvar
58511501 729.77 G A . 0/1 27 None None None 0.60363 0.60360 None None None None None None PDE4D|0.8692191|4.24%
View b12 5 rs71627068
dbSNP Clinvar
73980960 608.77 C T . 1/1 16 None None None 0.51038 0.51040 None None None None None None HEXB|0.021508316|73.45%
View b12 5 rs70976124
dbSNP Clinvar
73980963 634.73 GC G . 1/1 16 None None None 0.51038 0.51040 None None None None None None HEXB|0.021508316|73.45%
View b12 5 rs25415
dbSNP Clinvar
78135276 1946.77 T G . 1/1 56 None None None 0.28834 0.28830 0.33938 None None None None None None ARSB|0.08485524|54.24%
View b12 5 rs1805377
dbSNP Clinvar
82648943 41.77 G A . 0/1 6 None None None 0.37520 0.37520 0.22958 None None None None None None XRCC4|0.324520999|25.84%
View b12 5 rs3734000
dbSNP Clinvar
86564995 301.77 T A . 0/1 19 None None None 0.36941 0.36940 None None None None None None RASA1|0.937593822|2.57%
View b12 5 rs35014912,rs58320668
dbSNP Clinvar
86667856 291.73 G GA . 1/1 14 None None None None None None None None None RASA1|0.937593822|2.57%
View b12 5 rs2303719
dbSNP Clinvar
122682154 178.9 T G . 1/1 5 None None None 0.65355 0.65360 None None None None None None CEP120|0.184727315|38.38%
View b12 5 rs485847
dbSNP Clinvar
122685801 1032.77 G A . 1/1 27 None None None 1.00000 1.00000 None None None None None None CEP120|0.184727315|38.38%
View b12 5 rs35423173,rs398093707
dbSNP Clinvar
122685906 148.77 CT C . 1/1 8 None None None 0.58027 0.58030 None None None None None None CEP120|0.184727315|38.38%
View b12 5 rs149208336,rs59558008
dbSNP Clinvar
122753918 241.0 T TCTTA . 1/1 4 None None None 0.45747 0.45750 None None None None None None CEP120|0.184727315|38.38%
View b12 5 rs13159477
dbSNP Clinvar
122720923 312.78 T A . 1/1 8 None None None 0.42073 0.42070 None None None None None None CEP120|0.184727315|38.38%
View b12 5 rs590279
dbSNP Clinvar
122727138 262.8 T A . 1/1 8 None None None 0.98522 0.98520 None None None None None None CEP120|0.184727315|38.38%
View b12 5 rs35574017
dbSNP Clinvar
122728913 1185.77 C T . 1/1 35 None None None 0.45847 0.45850 None None None None None None CEP120|0.184727315|38.38%
View b12 5 rs547152106,rs11419318,rs397688511
dbSNP Clinvar
122734724 66.73 T TA . 0/1 8 None None None 0.42412 0.42410 None None None None None None CEP120|0.184727315|38.38%
View b12 5 rs71574108
dbSNP Clinvar
122754293 451.73 GTT G . 1/1 17 None None None 0.45347 0.45350 None None None None None None CEP120|0.184727315|38.38%
View b12 5 rs426987
dbSNP Clinvar
127613791 3991.77 C G . 1/1 100 None None None 0.72584 0.72580 None None None None None None FBN2|0.394987399|21.09%
View b12 5 rs564353240,rs3830367
dbSNP Clinvar
127622609 296.73 G GT . 0/1 16 None None None None None None None None None FBN2|0.394987399|21.09%
View b12 5 rs2042327
dbSNP Clinvar
127622983 1599.77 C T . 0/1 122 None None None 0.35763 0.35760 0.44357 None None None None None None FBN2|0.394987399|21.09%
View b12 5 rs7732520
dbSNP Clinvar
132070242 100.28 C T . 1/1 3 None None None 0.99980 0.99980 None None None None None None KIF3A|0.779999913|6.32%
View b12 5 rs142034531
dbSNP Clinvar
177035488 1352.73 GCCC G . 0/1 73 None None None 0.14457 0.14460 None None None None None None B4GALT7|0.160454345|41.46%
View b12 5 rs42688
dbSNP Clinvar
127623170 1348.77 A G . 0/1 75 None None None 0.23303 0.23300 0.09796 None None None None None None FBN2|0.394987399|21.09%
View b12 5 rs32210
dbSNP Clinvar
127623205 862.77 C T . 0/1 42 None None None 0.23283 0.23280 None None None None None None FBN2|0.394987399|21.09%