SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

SELE, SGCG,
SELE [Blood pressure regulation QTL], 145500 (2)
SGCG Muscular dystrophy, limb-girdle, type 2C, 253700 (3)

Genes at Clinical Genomics Database

SGCG,
SGCG Muscular dystrophy, limb-girdle, type 2C

Genes at HGMD

Summary

Number of Variants: 34
Number of Genes: 34

Export to: CSV

ADAMTS12

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 23 recalibrated filtered postcgp gqfiltered 5 . 33649800 24156.11 G A PASS 0/1 12 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

CAMK1G

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 23 recalibrated filtered postcgp gqfiltered 1 . 209783197 40672.25 C A PASS 0/1 69 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 1.15 None None None None None None None

CBWD1

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 23 recalibrated filtered postcgp gqfiltered 9 . 154795 112022.06 T C PASS 1/1 56 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.78694 0.23615 None None None None None None None

CCL24

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 23 recalibrated filtered postcgp gqfiltered 7 . 75442739 379.26 G A PASS 0/1 26 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

CNTLN

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 23 recalibrated filtered postcgp gqfiltered 9 . 17273733 26716.67 A G PASS 1/1 23 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.21 None None None None None None None

DESI2

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 23 recalibrated filtered postcgp gqfiltered 1 . 244855322 23458.84 C A PASS 0/1 96 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None

EMC4

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 23 recalibrated filtered postcgp gqfiltered 15 . 34520631 36668.24 C T PASS 0/1 178 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

FBXO18

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 23 recalibrated filtered postcgp gqfiltered 10 . 5953089 5475.35 C T PASS 0/1 55 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

HAUS8

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 23 recalibrated filtered postcgp gqfiltered 19 . 17184145 3011.22 T C PASS 1/1 5 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

KLK11

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 23 recalibrated filtered postcgp gqfiltered 19 . 51527894 3966.36 T G PASS 0/1 40 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

MAP4K1

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 23 recalibrated filtered postcgp gqfiltered 19 . 39098549 12000.84 C T PASS 0/1 77 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

MYOM1

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 23 recalibrated filtered postcgp gqfiltered 18 . 3176042 31853.02 C G PASS 1/1 43 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT -1.05 None None None None None None None

NOL6

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 23 recalibrated filtered postcgp gqfiltered 9 . 33466221 13700.39 A C PASS 0/1 73 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

PAIP1

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 23 recalibrated filtered postcgp gqfiltered 5 . 43527571 48886.88 C G PASS 1/1 14 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None

PCNXL2

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 23 recalibrated filtered postcgp gqfiltered 1 . 233161145 13366.61 T C PASS 1/1 44 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

PIK3AP1

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 23 recalibrated filtered postcgp gqfiltered 10 . 98411005 2220.98 C T PASS 0/1 37 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

PPP1R18

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 23 recalibrated filtered postcgp gqfiltered 6 . 30646958 287.92 G A PASS 0/1 23 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

PPP2R5C

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 23 recalibrated filtered postcgp gqfiltered 14 . 102348608 9977.47 G A PASS 0/1 33 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None

PTPN6

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 23 recalibrated filtered postcgp gqfiltered 12 . 7064316 17498.35 C T PASS 0/1 69 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

PTPRM

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 23 recalibrated filtered postcgp gqfiltered 18 . 8248337 4276.34 G T PASS 1/1 57 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None

RINT1

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 23 recalibrated filtered postcgp gqfiltered 7 . 105205726 4859.34 A G PASS 1/1 28 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

SBNO2

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 23 recalibrated filtered postcgp gqfiltered 19 . 1113702 3874.47 G A PASS 0/1 50 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.04 None None None None None None None

SEC14L5

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 23 recalibrated filtered postcgp gqfiltered 16 . 5056049 6444.75 A G PASS 0/1 22 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

SELE

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 23 recalibrated filtered postcgp gqfiltered 1 . 169696491 3324.92 T C PASS 0/1 46 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None

SEMA3G

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 23 recalibrated filtered postcgp gqfiltered 3 . 52476576 99774.89 G A PASS 0/1 101 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW 0.68 None None None None None None None

SGCG

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 23 recalibrated filtered postcgp gqfiltered 13 . 23869624 17729.17 T C PASS 1/1 12 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None

SH3YL1

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 23 recalibrated filtered postcgp gqfiltered 2 rs2290911
dbSNP
224919 43420.17 A G PASS 0/1 46 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.25559 0.25560 0.29910 None None None None None None None

SPTLC3

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 23 recalibrated filtered postcgp gqfiltered 20 . 13090864 7095.09 C G PASS 0/1 10 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

SUV420H2

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 23 recalibrated filtered postcgp gqfiltered 19 . 55857582 22138.93 C T PASS 0/1 36 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

TMEM120B

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 23 recalibrated filtered postcgp gqfiltered 12 . 122208878 23.52 A G PASS 0/1 6 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

USP14

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 23 recalibrated filtered postcgp gqfiltered 18 rs563155
dbSNP
166819 19262.3 T C PASS 0/1 62 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.15455 0.15460 0.20706 None None None None None None None

WDR24

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 23 recalibrated filtered postcgp gqfiltered 16 . 737827 937.29 A C PASS 0/1 6 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

ZNF106

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 23 recalibrated filtered postcgp gqfiltered 15 . 42729430 61709.69 C T PASS 1/1 74 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None

ZNF77

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 23 recalibrated filtered postcgp gqfiltered 19 . 2939403 26070.28 C G PASS 0/1 207 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW -1.94 None None None None None None None