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+ Genes 6

Genes:
FGFR3, GAMT, SH3BP2, TH, TPO, TSC2,

+ Genes associated with diseases 6

Genes at Omim

FGFR3, GAMT, SH3BP2, TH, TPO, TSC2,
FGFR3 Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
Hypochondroplasia, 146000 (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)
Achondroplasia, 100800 (3)
GAMT Cerebral creatine deficiency syndrome 2, 612736 (3)
SH3BP2 Cherubism, 118400 (3)
TH Segawa syndrome, recessive, 605407 (3)
TPO Thyroid dyshormonogenesis 2A, 274500 (3)
TSC2 Lymphangioleiomyomatosis, somatic, 606690 (3)
Tuberous sclerosis-2, 613254 (3)
?Focal cortical dysplasia, type II, somatic, 607341 (3)

Genes at Clinical Genomics Database

FGFR3, GAMT, SH3BP2, TH, TPO, TSC2,
FGFR3 Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
Crouzon syndrome with acanthosis nigricans
Lacrimoauriculodentodigital syndrome (AD)
Muenke syndrome
GAMT Guanidinoacetate methyltransferase deficiency
SH3BP2 Cherubism
TH Segawa syndrome, autosomal recessive
TPO Thyroid dyshormonogenesis 2A
TSC2 Lymphangioleiomyomatosis
Tuberous sclerosis 2

Genes at HGMD

Summary

Number of Variants: 50
Number of Genes: 6

Export to: CSV
  • Page 1 of 1

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 i29p2-c-18094-iii 4 rs2234909
dbSNP Clinvar 		1803704 35705.0 T C PASS 0/1 132 SYNONYMOUS_CODING LOW None 0.20747 0.20750 0.21393 None None None None None None FGFR3|0.776648495|6.4%

GAMT
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 i29p2-c-18094-iii 19 rs17851582
dbSNP Clinvar 		1397443 5091.0 G A PASS 0/1 63 None None None 0.03654 0.03654 0.07121 0.15 0.21 None None None None None None GAMT|0.050956603|62.39%

SH3BP2
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 i29p2-c-18094-iii 4 rs1709004
dbSNP Clinvar 		2814148 20341.0 A G PASS 0/1 231 None None None 0.10583 0.10580 0.08433 None None None None None None SH3BP2|0.045893952|63.94%
View i29p2-c-18094-iii 4 rs231399
dbSNP Clinvar 		2831383 20225.0 T G PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.46625 0.46630 0.45433 None None None None None None SH3BP2|0.045893952|63.94%
View i29p2-c-18094-iii 4 rs231402
dbSNP Clinvar 		2822467 129754.0 G T PASS 0/1 191 SYNONYMOUS_CODING LOW None 0.37201 0.37200 0.34974 None None None None None None SH3BP2|0.045893952|63.94%

TH
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 i29p2-c-18094-iii 11 rs6356
dbSNP Clinvar 		2190951 71578.0 C T PASS 0/1 155 NON_SYNONYMOUS_CODING MODERATE None 0.43051 0.43050 0.28800 0.23 0.00 None None None None None None None

TPO
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 i29p2-c-18094-iii 2 rs1126799
dbSNP Clinvar 		1520676 160461.0 T C PASS 0/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.66394 0.66390 0.38675 1.00 0.00 None None None None None None None
View i29p2-c-18094-iii 2 rs732608
dbSNP Clinvar 		1499899 189089.0 C T PASS 0/1 239 SYNONYMOUS_CODING LOW None 0.43890 0.43890 0.41304 None None None None None None None
View i29p2-c-18094-iii 2 rs732609
dbSNP Clinvar 		1499927 183057.0 A C PASS 0/1 236 NON_SYNONYMOUS_CODING MODERATE None 0.49840 0.49840 0.47032 1.00 0.00 None None None None None None None
View i29p2-c-18094-iii 2 rs1126797
dbSNP Clinvar 		1497803 139201.0 C T PASS 0/1 202 SYNONYMOUS_CODING LOW None 0.35903 0.35900 0.35053 None None None None None None None
View i29p2-c-18094-iii 2 rs2280132
dbSNP Clinvar 		1481155 18701.0 G T PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.40815 0.40810 0.40690 1.00 0.02 None None None None None None None
View i29p2-c-18094-iii 2 rs9678281
dbSNP Clinvar 		1418192 84198.0 C G PASS 0/1 151 SYNONYMOUS_CODING LOW None 0.00040 0.31170 0.35530 None None None None None None None

TSC2
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 i29p2-c-18094-iii 16 rs1748
dbSNP Clinvar 		2138269 79350.0 T C PASS 0/1 248 SYNONYMOUS_CODING LOW None 0.27636 0.27640 0.33246 None None None None None None None
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 i29p2-c-18094-iii 4 rs781036706
dbSNP Clinvar 		1809123 101606.0 TGTGC T VQSRTrancheINDEL99.00to99.90 0/1 194 None None None None None None None None None FGFR3|0.776648495|6.4%
View i29p2-c-18094-iii 4 rs747937861
dbSNP Clinvar 		1809125 85810.0 TGC T VQSRTrancheINDEL99.00to99.90 0/1 187 None None None None None None None None None FGFR3|0.776648495|6.4%
View i29p2-c-18094-iii 4 . 1809145 51870.0 TGC T VQSRTrancheINDEL99.00to99.90 0/1 177 None None None None None None None None None FGFR3|0.776648495|6.4%
View i29p2-c-18094-iii 5 rs2853690
dbSNP Clinvar 		1253744 47795.0 G A PASS 0/1 205 None None None 0.15316 0.15320 None None None None None None None
View i29p2-c-18094-iii 5 rs402710
dbSNP Clinvar 		1320722 65844.0 C T PASS 0/1 102 None None None 0.33586 0.33590 0.36296 None None None None None None CLPTM1L|0.070898112|57.26%
View i29p2-c-18094-iii 5 rs5865369,rs752405772,rs397768407
dbSNP Clinvar 		1334507 102238.0 GA G PASS 0/1 62 None None None 0.63219 0.63220 None None None None None None CLPTM1L|0.070898112|57.26%
View i29p2-c-18094-iii 5 rs31490
dbSNP Clinvar 		1344458 70875.0 G A PASS 0/1 101 None None None 0.33666 0.33670 0.45255 None None None None None None CLPTM1L|0.070898112|57.26%
View i29p2-c-18094-iii 7 rs286560
dbSNP Clinvar 		2552986 12447.0 A C PASS 0/1 36 None None None 0.25879 0.25880 0.29107 None None None None None None None
View i29p2-c-18094-iii 7 . 2566965 6498.0 CG... C PASS 0/1 114 None None None None None None None None None None
View i29p2-c-18094-iii 7 rs796983514
dbSNP Clinvar 		2566971 19039.0 CGT C PASS 0/1 110 None None None 0.03934 0.03934 None None None None None None None
View i29p2-c-18094-iii 7 rs147211886
dbSNP Clinvar 		2567002 1690.0 C T PASS 0/1 109 None None None 0.00220 0.00220 None None None None None None None
View i29p2-c-18094-iii 11 rs200462975
dbSNP Clinvar 		2189929 1408.0 GAGAA G PASS 0/1 14 None None None 0.00149 None None None None None None None
View i29p2-c-18094-iii 16 rs1800720
dbSNP Clinvar 		2105400 18759.0 C T PASS 0/1 99 None None None 0.09205 0.09205 0.12842 None None None None None None None
View i29p2-c-18094-iii 16 rs7196184
dbSNP Clinvar 		2122822 5798.0 A G PASS 0/1 99 None None None 0.10943 0.10940 0.11242 None None None None None None None
View i29p2-c-18094-iii 16 rs13331451
dbSNP Clinvar 		2125788 16527.0 C T PASS 0/1 105 None None None 0.20547 0.20550 0.22498 None None None None None None None
View i29p2-c-18094-iii 16 rs1800718
dbSNP Clinvar 		2138218 83040.0 A C PASS 0/1 244 None None None 0.25699 0.25700 0.32849 None None None None None None None
View i29p2-c-18094-iii 16 rs13332222
dbSNP Clinvar 		2138422 44719.0 C G PASS 0/1 244 None None None 0.20088 0.20090 0.23130 None None None None None None None
View i29p2-c-18094-iii 16 rs13332015
dbSNP Clinvar 		2138637 3726.0 G A PASS 0/1 221 None None None 0.03854 0.03854 0.03725 None None None None None None None
View i29p2-c-18094-iii 17 . 2588909 51166.0 AG... A VQSRTrancheINDEL99.00to99.90 0/1 31 None None None None None None None None None None
View i29p2-c-18094-iii 18 rs11571507
dbSNP Clinvar 		3418219 3233.0 T C PASS 0/1 96 None None None 0.02276 0.02276 None None None None None None None
View i29p2-c-18094-iii 19 rs886054213
dbSNP Clinvar 		1206807 163.0 C T VQSRTrancheSNP99.00to99.90 0/1 231 None None None None None None None None None None
View i29p2-c-18094-iii 19 rs3764640
dbSNP Clinvar 		1207238 36220.0 G T PASS 0/1 98 None None None 0.35344 0.35340 0.22951 None None None None None None None
View i29p2-c-18094-iii 19 rs10415095
dbSNP Clinvar 		1228191 49529.0 T C PASS 0/1 44 None None None 0.70787 0.70790 None None None None None None None
View i29p2-c-18094-iii 17 . 2588941 40247.0 TT... T VQSRTrancheINDEL99.00to99.90 0/1 24 None None None None None None None None None None
View i29p2-c-18094-iii 19 rs55776826
dbSNP Clinvar 		1399056 64468.0 C T PASS 0/1 246 None None None None None None None None None GAMT|0.050956603|62.39%
View i29p2-c-18094-iii 17 . 2588945 14533.0 TG... T VQSRTrancheINDEL99.00to99.90 0/1 24 None None None None None None None None None None
View i29p2-c-18094-iii 19 rs903142806
dbSNP Clinvar 		1228058 2017.0 CT C PASS 0/1 27 None None None None None None None None None None
View i29p2-c-18094-iii 17 . 2588911 29727.0 AT... A PASS 0/1 31 None None None None None None None None None None
View i29p2-c-18094-iii 17 . 2588913 29625.0 GT... G PASS 0/1 30 None None None None None None None None None None
View i29p2-c-18094-iii 17 rs749703802
dbSNP Clinvar 		2588915 267053.0 GA... G VQSRTrancheINDEL99.00to99.90 0/1 30 None None None None None None None None None None
View i29p2-c-18094-iii 2 rs2071402
dbSNP Clinvar 		1417199 57344.0 G A PASS 0/1 64 None None None 0.39197 0.39200 None None None None None None None
View i29p2-c-18094-iii 2 rs2071403
dbSNP Clinvar 		1417244 136237.0 A G PASS 0/1 94 START_GAINED LOW None 0.63239 0.63240 None None None None None None None
View i29p2-c-18094-iii 2 rs2276701
dbSNP Clinvar 		1426787 40632.0 G A PASS 0/1 129 None None None 0.23063 0.23060 0.21375 None None None None None None None
View i29p2-c-18094-iii 2 rs2280127
dbSNP Clinvar 		1546531 37482.0 C T PASS 0/1 81 None None None 0.31270 0.31270 None None None None None None None
View i29p2-c-18094-iii 4 rs774295977
dbSNP Clinvar 		1806023 3388.0 GC G PASS 0/1 137 None None None None None None None None None FGFR3|0.776648495|6.4%
View i29p2-c-18094-iii 4 rs754209375
dbSNP Clinvar 		1809110 18472.0 CTG C PASS 0/1 224 None None None 0.14118 None None None None None None FGFR3|0.776648495|6.4%
View i29p2-c-18094-iii 4 rs768819011
dbSNP Clinvar 		1809121 87974.0 TG... T VQSRTrancheINDEL99.00to99.90 0/1 198 None None None None None None None None None FGFR3|0.776648495|6.4%
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