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+ Genes 7

+ Genes associated with diseases 6

Genes at Omim

ALK, DIS3L2, EPCAM, MLPH, MSH6, TMEM127,
ALK {Neuroblastoma, susceptibility to, 3}, 613014 (3)
DIS3L2 Perlman syndrome, 267000 (3)
EPCAM Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)
Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3)
MLPH Griscelli syndrome, type 3, 609227 (3)
MSH6 Mismatch repair cancer syndrome, 276300 (3)
Endometrial cancer, familial, 608089 (3)
Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3)
TMEM127 {Pheochromocytoma, susceptibility to}, 171300 (3)

Genes at Clinical Genomics Database

ALK, DIS3L2, EPCAM, FANCL, MLPH, MSH6, TMEM127,
ALK Neuroblastoma, susceptibility to, 3
DIS3L2 Perlman syndrome
EPCAM Diarrhea 5, with tufting enteropathy, congenital
Colorectal cancer, hereditary nonpolyposis, type 8
FANCL Fanconi anemia type L
MLPH Griscelli syndrome, type 3
MSH6 Endometrial cancer
Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 5
TMEM127 Pheochromocytoma

Genes at HGMD

Summary

Number of Variants: 26
Number of Genes: 7

Export to: CSV
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 pc751_s1 2 rs1364054
dbSNP		 8178735 2016.15 A G PASS 1/1 81 None None None 0.48822 0.48820 0.41036 None None None None None None None
View pc751_s1 2 rs7584993
dbSNP		 223845942 2025.66 C A PASS 1/1 82 None None None 0.60184 0.60180 None None None None None None None
View pc751_s1 2 rs13016963
dbSNP		 202162811 2647.83 A G PASS 1/1 109 None None None 0.63818 0.63820 None None None None None None None
View pc751_s1 2 rs2072590
dbSNP		 177042633 2306.55 A C PASS 1/1 99 None None None 0.81749 0.81750 None None None None None None None

FANCL
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 pc751_s1 2 rs848291
dbSNP		 58388696 2738.19 A G PASS 1/1 108 SYNONYMOUS_CODING LOW SILENT 0.70647 0.70650 0.29591 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 pc751_s1 2 rs7579899
dbSNP		 46537604 2676.9 A G PASS 1/1 109 None None None 0.42572 0.42570 None None None None None None None
View pc751_s1 2 rs1465618
dbSNP		 43553949 2516.94 T C PASS 1/1 96 None None None 0.70487 0.70490 None None None None None None None

ALK
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 pc751_s1 2 rs4358080
dbSNP		 30143499 2626.07 G C PASS 1/1 86 SYNONYMOUS_CODING LOW SILENT 0.89377 0.89380 0.09071 None None None None None None None
View pc751_s1 2 rs2246745
dbSNP		 29940529 2024.66 A T PASS 1/1 83 SYNONYMOUS_CODING LOW SILENT 0.58926 0.58930 0.37298 None None None None None None None
View pc751_s1 2 rs2256740
dbSNP		 29455267 1730.0 A G PASS 1/1 60 SYNONYMOUS_CODING LOW SILENT 0.50000 0.50000 0.33861 None None None None None None None
View pc751_s1 2 rs1670283
dbSNP		 29416572 1773.94 T C PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99221 0.99220 0.00969 0.71 0.00 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 pc751_s1 2 rs6734275
dbSNP		 67241174 927.56 G A PASS 0/1 90 None None None 0.40316 0.40320 None None None None None None None
View pc751_s1 2 rs1432295
dbSNP		 61066666 1101.91 G A PASS 0/1 107 None None None 0.82129 0.82130 None None None None None None None

MLPH
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 pc751_s1 2 rs2292884
dbSNP		 238443226 671.36 A G PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37141 0.37140 0.36076 1.00 0.00 None None None None None None None

MSH6
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 pc751_s1 2 rs1800935
dbSNP		 48023115 1067.08 T C PASS 0/1 93 SYNONYMOUS_CODING LOW SILENT 0.13518 0.13520 0.25065 None None None None None None None
View pc751_s1 2 rs1800932
dbSNP		 48018081 2134.25 A G PASS 0/1 158 SYNONYMOUS_CODING LOW SILENT 0.08666 0.08666 0.16523 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 pc751_s1 2 rs7584330
dbSNP		 238387228 1752.76 A G PASS 0/1 159 None None None 0.40655 0.40650 None None None None None None None

DIS3L2
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 pc751_s1 2 rs3811578
dbSNP		 233201328 244.19 A G PASS 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.20208 0.20210 0.09947 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 pc751_s1 2 rs13397985
dbSNP		 231091223 1391.58 T G PASS 0/1 131 None None None 0.10643 0.10640 None None None None None None None

MSH6
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 pc751_s1 2 rs1042820
dbSNP		 48010558 84.6 C A SB 0/1 18 SYNONYMOUS_CODING LOW SILENT 0.06909 0.06909 0.11665 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 pc751_s1 2 rs966423
dbSNP		 218310340 1163.53 C T PASS 0/1 128 None None None 0.29133 0.29130 None None None None None None None
View pc751_s1 2 rs6435862
dbSNP		 215672546 736.09 G T PASS 0/1 63 None None None 0.76877 0.76880 None None None None None None None

EPCAM
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 pc751_s1 2 rs1126497
dbSNP		 47601106 363.75 T C PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66613 0.66610 0.43326 1.00 0.00 None None None None None None None

ALK
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 pc751_s1 2 rs2293564
dbSNP		 29543663 409.5 T C PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.77656 0.77660 0.20906 None None None None None None None

TMEM127
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 pc751_s1 2 rs3852673
dbSNP		 96919642 181.3 C T LowGQ;LowGQX;SB 0/1 7 SYNONYMOUS_CODING LOW SILENT 0.13938 0.13940 0.13871 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 pc751_s1 2 rs10187424
dbSNP		 85794297 427.33 T C PASS 0/1 62 None None None 0.46765 0.46770 None None None None None None None