+ Filter Options

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 174

+ Genes associated with diseases 44

Genes at Omim

AMELX, AR, ARSE, ATP11C, ATP2B3, ATP7A, AVPR2, BGN, BRWD3, CACNA1F, CCDC22, CLCN5, COL4A6, CXorf56, DIAPH2, DKC1, DLG3, DMD, EIF2S3, FLNA, FRMPD4, G6PD, GDI1, GRIA3, HUWE1, IGSF1, KAL1, KIF4A, MAOA, MED12, NHS, NR0B1, NSDHL, NYX, OPN1LW, PDHA1, POU3F4, PTCHD1, RBMX, SLC16A2, TEX11, UBA1, VMA21, XG,
AMELX Amelogenesis imperfecta, type 1E, 301200 (3)
AR Androgen insensitivity, 300068 (3)
Androgen insensitivity, partial, with or without breast cancer, 312300 (3)
Hypospadias 1, X-linked, 300633 (3)
{Prostate cancer, susceptibility to}, 176807 (3)
Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)
ARSE Chondrodysplasia punctata, X-linked recessive, 302950 (3)
ATP11C ?Hemolytic anemia, congenital, X-linked, 301015 (3)
ATP2B3 ?Spinocerebellar ataxia, X-linked 1, 302500 (3)
ATP7A Menkes disease, 309400 (3)
Occipital horn syndrome, 304150 (3)
Spinal muscular atrophy, distal, X-linked 3, 300489 (3)
AVPR2 Diabetes insipidus, nephrogenic, 304800 (3)
Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3)
BGN Meester-Loeys syndrome, 300989 (3)
Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3)
BRWD3 Mental retardation, X-linked 93, 300659 (3)
CACNA1F Aland Island eye disease, 300600 (3)
Cone-rod dystrophy, X-linked, 3, 300476 (3)
Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3)
CCDC22 Ritscher-Schinzel syndrome 2, 300963 (3)
CLCN5 Hypophosphatemic rickets, 300554 (3)
Dent disease, 300009 (3)
Nephrolithiasis, type I, 310468 (3)
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3)
COL4A6 ?Deafness, X-linked 6, 300914 (3)
CXorf56 ?Mental retardation, X-linked 107, 301013 (3)
DIAPH2 ?Premature ovarian failure 2A, 300511 (3)
DKC1 Dyskeratosis congenita, X-linked, 305000 (3)
DLG3 Mental retardation, X-linked 90, 300850 (3)
DMD Becker muscular dystrophy, 300376 (3)
Cardiomyopathy, dilated, 3B, 302045 (3)
Duchenne muscular dystrophy, 310200 (3)
EIF2S3 MEHMO syndrome, 300148 (3)
FLNA Frontometaphyseal dysplasia 1, 305620 (3)
Cardiac valvular dysplasia, X-linked, 314400 (3)
Heterotopia, periventricular, 1, 300049 (3)
Congenital short bowel syndrome, 300048 (3)
Intestinal pseudoobstruction, neuronal, 300048 (3)
Melnick-Needles syndrome, 309350 (3)
?FG syndrome 2, 300321 (3)
Otopalatodigital syndrome, type I, 311300 (3)
Otopalatodigital syndrome, type II, 304120 (3)
Terminal osseous dysplasia, 300244 (3)
FRMPD4 Mental retardation, X-linked 104, 300983 (3)
G6PD Hemolytic anemia, G6PD deficient (favism), 300908 (3)
{Resistance to malaria due to G6PD deficiency}, 611162 (3)
GDI1 Mental retardation, X-linked 41, 300849 (3)
GRIA3 Mental retardation, X-linked 94, 300699 (3)
HUWE1 Mental retardation, X-linked syndromic, Turner type, 300706 (3)
IGSF1 Hypothyroidism, central, and testicular enlargement, 300888 (3)
KAL1 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3)
KIF4A ?Mental retardation, X-linked 100, 300923 (3)
MAOA Brunner syndrome, 300615 (3)
{Antisocial behavior}, 300615 (3)
MED12 Lujan-Fryns syndrome, 309520 (3)
Ohdo syndrome, X-linked, 300895 (3)
Opitz-Kaveggia syndrome, 305450 (3)
NHS Cataract 40, X-linked, 302200 (3)
Nance-Horan syndrome, 302350 (3)
NR0B1 Adrenal hypoplasia, congenital, 300200 (3)
46XY sex reversal 2, dosage-sensitive, 300018 (3)
NSDHL CK syndrome, 300831 (3)
CHILD syndrome, 308050 (3)
NYX Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3)
OPN1LW Blue cone monochromacy, 303700 (3)
Colorblindness, protan, 303900 (3)
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)
POU3F4 Deafness, X-linked 2, 304400 (3)
PTCHD1 {Autism, susceptibility to, X-linked 4}, 300830 (3)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
SLC16A2 Allan-Herndon-Dudley syndrome, 300523 (3)
TEX11 Spermatogenic failure, X-linked, 2, 309120 (3)
UBA1 Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
VMA21 Myopathy, X-linked, with excessive autophagy, 310440 (3)
XG [Blood group, XG system] (3)

Genes at Clinical Genomics Database

AMELX, AR, ARSE, ATP2B3, ATP7A, AVPR2, BRWD3, CACNA1F, CCDC22, CLCN5, COL4A6, DIAPH2, DKC1, DLG3, DMD, FLNA, G6PD, GDI1, GRIA3, HUWE1, IGSF1, KIF4A, MAOA, MED12, NHS, NR0B1, NSDHL, NYX, OPN1LW, PDHA1, POU3F4, PTCHD1, RBMX, SLC16A2, TEX11, UBA1, VMA21, XG,
AMELX Amelogenesis imperfecta, type 1E
AR Androgen insensitivity
Androgen insensitivity, partial
ARSE Chondrodysplasia punctata 1, X-linked recessive
ATP2B3 Spinocerebellar ataxia, X-linked 1
ATP7A Menkes disease
AVPR2 Diabetes insipidus, nephrogenic, X-linked
BRWD3 Mental retardation, X-linked 93
CACNA1F Aland Island eye disease
Cone-rod dystrophy, X-linked, 3
Night blindness, congenital stationary, X-linked, type 2A
CCDC22 Ritscher-Schinzel syndrome 2
CLCN5 Dent disease 1
Hypophosphatemic rickets, X-linked recessive
Nephrolithiasis, type I
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
COL4A6 Deafness, X-linked, with cochlear malformation
DIAPH2 Premature ovarian failure 2A
DKC1 Dyskeratosis congenita, X-linked
Hoyeraal-Hreidarsson syndrome
DLG3 Mental retardation, X-linked 90
DMD Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy, dilated, 3B
FLNA Cardiac valvular dysplasia, X-linked
Heterotopia, periventricular, Ehlers-Danlos variant
Intestinal pseudoobstruction, neuronal, X-linked/Congenital short bowel syndrome
G6PD Glucose-6-phosphate dehydrogenase deficiency
GDI1 Mental retardation, X-linked 41
GRIA3 Mental retardation, X-linked 94
HUWE1 Mental retardation, X-linked syndromic, Turner type
IGSF1 Central hypothyroidism and testicular enlargement
KIF4A Mental retardation, X-linked 100
MAOA Brunner syndrome
MED12 Lujan-Fryns syndrome
Opitz-Kaveggia syndrome
Mental retardation, X-linked, with Marfanoid habitus
FG syndrome
Ohdo syndrome
NHS Nance-Horan syndrome
Cataract 40
NR0B1 Adrenal hypoplasia, congenital
46,XY sex reversal 2
NSDHL Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
CK syndrome
NYX Night blindness, congenital stationary, type 1A
OPN1LW Colorblindness, partial, protan series
Blue cone monochromacy
Red cone polymorphism
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency
Leigh syndrome, X-linked
POU3F4 Deafness, X-linked 2
PTCHD1 Autism susceptibility, X-linked 4
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
SLC16A2 Allan-Herndon-Dudley syndrome
TEX11 Spermatogenic failure, X-linked 2
UBA1 Spinal muscular atrophy, X-linked 2, infantile
VMA21 Myopathy, X-linked, with excessive autophagy
XG XG blood group

Genes at HGMD

Summary

Number of Variants: 1979
Number of Genes: 174

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 index31 X rs78672295
dbSNP Clinvar 		52891542 340.77 A G . 0/1 23 None None None None None None None None None None
View index31 X rs11117532
dbSNP Clinvar 		148626755 75.28 C G . 1/1 3 None None None None None None None None None CXorf40A|0.004189314|86.75%
View index31 X rs375406492
dbSNP Clinvar 		2832589 96.77 C T . 0/1 15 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs372524806
dbSNP Clinvar 		2832596 139.77 T C . 0/1 14 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs375922987
dbSNP Clinvar 		2832602 143.77 C A . 0/1 15 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs373881149
dbSNP Clinvar 		2832607 606.73 A AA... . 0/1 15 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs370201439
dbSNP Clinvar 		2832614 155.77 T A . 0/1 18 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs79831867
dbSNP Clinvar 		52891565 351.77 A G . 0/1 24 None None None None None None None None None XAGE3|0.000778659|96.8%
View index31 X rs79449844
dbSNP Clinvar 		52891738 513.77 C T . 0/1 57 None None None None None None None None None XAGE3|0.000778659|96.8%
View index31 X rs75999615
dbSNP Clinvar 		52891739 560.77 A G . 0/1 57 None None None None None None None None None XAGE3|0.000778659|96.8%
View index31 X rs73488230
dbSNP Clinvar 		52891818 334.77 G A . 0/1 38 None None None None None None None None None XAGE3|0.000778659|96.8%
View index31 X rs66491662
dbSNP Clinvar 		52891832 305.73 CT C . 0/1 34 None None None None None None None None None XAGE3|0.000778659|96.8%
View index31 X rs75623644
dbSNP Clinvar 		52891881 232.77 T C . 0/1 17 None None None None None None None None None XAGE3|0.000778659|96.8%
View index31 X rs77456086
dbSNP Clinvar 		52891887 247.77 C T . 0/1 16 None None None None None None None None None XAGE3|0.000778659|96.8%
View index31 X rs74859568
dbSNP Clinvar 		52891889 234.77 T C . 0/1 16 None None None None None None None None None XAGE3|0.000778659|96.8%
View index31 X rs78701252
dbSNP Clinvar 		52891901 214.77 G A . 0/1 12 None None None None None None None None None XAGE3|0.000778659|96.8%
View index31 X rs75388341
dbSNP Clinvar 		52891918 188.77 T C . 0/1 10 None None None None None None None None None XAGE3|0.000778659|96.8%
View index31 X rs75535538
dbSNP Clinvar 		52891928 135.77 G A . 0/1 9 None None None None None None None None None XAGE3|0.000778659|96.8%
View index31 X rs78686459
dbSNP Clinvar 		52891932 102.77 T A . 0/1 10 None None None None None None None None None XAGE3|0.000778659|96.8%
View index31 X rs35061036,rs397897075
dbSNP Clinvar 		83319457 594.73 TA T . 1/1 25 None None None None None None None None None RPS6KA6|0.298519631|27.74%
View index31 X rs5902508,rs781940036,rs34135345
dbSNP Clinvar 		52895579 292.75 GGT G . 1/1 10 None None None 0.85800 None None None None None None XAGE3|0.000778659|96.8%

RPS6KA6
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 index31 X rs6616890
dbSNP Clinvar 		83320017 1240.77 C T . 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.09483 0.09483 0.05169 0.63 0.00 2.04 None None None None None None RPS6KA6|0.298519631|27.74%
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 index31 X rs73632952
dbSNP Clinvar 		2832618 229.77 G T . 0/1 20 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs111318153
dbSNP Clinvar 		2832661 214.77 A T . 0/1 21 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs139484145
dbSNP Clinvar 		2832668 209.77 A G . 0/1 20 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs113031742
dbSNP Clinvar 		2832696 232.77 T C . 0/1 33 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs112408163
dbSNP Clinvar 		2832708 240.77 G T . 0/1 37 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs71233843
dbSNP Clinvar 		61729502 31.74 C A . 1/1 2 None None None 0.00026 0.00026 None None None None None None None
View index31 X rs143365062
dbSNP Clinvar 		48141281 80.28 A T . 1/1 3 None None None 0.02543 0.02543 None None None None None None None
View index31 X rs5907732
dbSNP Clinvar 		140008385 392.77 G T . 1/1 13 None None None 0.71020 0.71020 0.29532 None None None None None None None

MAGEC1
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 index31 X rs176040
dbSNP Clinvar 		140993905 756.77 C T . 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.00503 0.00503 0.44 0.00 -1.16 None None None None None None MAGEC1|0.000995741|95.47%
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 index31 X rs73632953
dbSNP Clinvar 		2832715 265.77 T C . 0/1 39 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs373093086
dbSNP Clinvar 		2832928 130.77 A G . 0/1 16 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs377295657
dbSNP Clinvar 		2832931 139.77 A G . 0/1 15 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs370694965
dbSNP Clinvar 		2832937 144.77 A G . 0/1 15 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs112130956
dbSNP Clinvar 		2833014 53.77 C G . 0/1 9 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs754144236
dbSNP Clinvar 		2833476 109.77 G A . 0/1 9 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs115063380
dbSNP Clinvar 		2833752 617.77 C T . 0/1 65 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs199688335
dbSNP Clinvar 		2833769 467.77 T C . 0/1 55 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs200976696
dbSNP Clinvar 		2833771 436.77 T C . 0/1 53 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs1010801425
dbSNP Clinvar 		2833913 87.77 T C . 0/1 8 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs111382152
dbSNP Clinvar 		2833943 134.9 C T . 1/1 6 None None None 0.00026 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs966643216
dbSNP Clinvar 		2833955 101.8 T C . 0/1 5 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X . 2833967 52.77 G A . 0/1 5 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs75490251
dbSNP Clinvar 		2835831 197.77 C T . 0/1 26 None None None None None None None None None ARSD|0.001611053|92.29%

ARSD
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 index31 X rs78034736
dbSNP Clinvar 		2835863 267.77 G T . 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.96 5.25 None None None None None None ARSD|0.001611053|92.29%
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 index31 X rs138206271
dbSNP Clinvar 		2836293 118.77 A G . 0/1 30 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs113510342
dbSNP Clinvar 		2836317 70.77 G T . 0/1 27 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs111614007
dbSNP Clinvar 		2836349 35.77 G C . 0/1 15 None None None None None None None None None ARSD|0.001611053|92.29%

ARSE
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 index31 X rs11222
dbSNP Clinvar 		2852951 345.77 G A . 1/1 13 SYNONYMOUS_CODING LOW None 0.56583 0.56580 0.45809 None None None None None None ARSE|0.002669381|89.33%
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 index31 X rs773803378
dbSNP Clinvar 		8270527 999.73 A AAG . 1/1 27 None None None None None None None None None None
View index31 X rs745800982,rs755068883
dbSNP Clinvar 		8270575 1977.73 A AAG . 1/1 47 None None None None None None None None None None
View index31 X rs777015428,rs752656813
dbSNP Clinvar 		8270577 2063.73 GAA G . 1/1 49 None None None None None None None None None None
View index31 X rs372864266
dbSNP Clinvar 		8270613 2135.73 GAA G . 1/1 51 None None None None None None None None None None

SHROOM2
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 index31 X rs150369562
dbSNP Clinvar 		9905440 867.77 G T . 1/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.00980 0.00980 0.00890 0.22 0.07 -1.24 None None None None None None SHROOM2|0.057329178|60.6%
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 index31 X rs210576
dbSNP Clinvar 		151283599 998.77 T G . 1/1 32 None None None 0.98676 0.98680 0.01278 None None None None None None None

MAGEA10
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 index31 X rs210586
dbSNP Clinvar 		151303393 1433.77 C T . 1/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.97431 0.97430 0.02613 1.00 0.00 -0.09 None None None None None None MAGEA10|0.000454799|98.66%
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 index31 X rs311174
dbSNP Clinvar 		2713012 114.03 T C . 1/1 4 None None None 0.57748 0.57750 None None None None None None None
View index31 X rs2306737
dbSNP Clinvar 		2699968 513.77 A G . 1/1 18 None None None 0.52742 0.52740 None None None None None None None
View index31 X rs2306736
dbSNP Clinvar 		2700027 942.77 T C . 1/1 31 None None None 0.49033 0.49030 None None None None None None None
View index31 X rs2291380
dbSNP Clinvar 		2712283 128.9 C T . 1/1 5 None None None 0.45060 0.45060 None None None None None None None
View index31 X rs112050060
dbSNP Clinvar 		2832570 98.77 C T . 0/1 13 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs1639329
dbSNP Clinvar 		2713069 36.74 G A . 1/1 2 None None None 0.57457 0.57460 None None None None None None None
View index31 X rs1639330
dbSNP Clinvar 		2713073 44.74 C T . 1/1 2 None None None 0.58782 0.58780 None None None None None None None
View index31 X rs311175
dbSNP Clinvar 		2713089 41.74 A G . 1/1 2 None None None 0.57589 0.57590 None None None None None None None
View index31 X rs4484858
dbSNP Clinvar 		2715425 972.77 A G . 1/1 31 None None None 0.56795 0.56790 0.38406 None None None None None None None

XG
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 index31 X rs3749988
dbSNP Clinvar 		2724760 826.77 T C . 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.96503 0.96500 0.05029 0.32 0.00 0.22 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 index31 X rs35902344
dbSNP Clinvar 		2725036 706.73 C CAT . 0/1 18 None None None 0.46993 0.46990 None None None None None None None
View index31 X rs6567645
dbSNP Clinvar 		2726396 495.77 A G . 1/1 15 None None None 0.95391 0.95390 None None None None None None None
View index31 X rs11439714,rs386416475,rs386419237
dbSNP Clinvar 		2729540 743.73 T TA . 1/1 27 None None None 0.68480 None None None None None None None
View index31 X rs66851024,rs34201156
dbSNP Clinvar 		2732356 513.74 C CTT . 0/1 18 None None None 0.01801 0.64190 None None None None None None None
View index31 X rs6642032
dbSNP Clinvar 		2748253 751.77 G C . 1/1 24 None None None 0.91868 0.91870 0.07349 None None None None None None GYG2|0.001763876|91.62%
View index31 X rs5982883
dbSNP Clinvar 		2760976 157.84 T G . 1/1 6 None None None 0.37245 0.37250 None None None None None None GYG2|0.001763876|91.62%

GYG2
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 index31 X rs11797037
dbSNP Clinvar 		2761050 270.78 C T . 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.15841 0.15840 0.00 0.04 0.57 None None None None None None GYG2|0.001763876|91.62%
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 index31 X rs5982884
dbSNP Clinvar 		2761724 42.74 A G . 1/1 2 None None None 0.42570 0.42570 None None None None None None GYG2|0.001763876|91.62%
View index31 X rs6567664
dbSNP Clinvar 		2772772 78.28 T C . 1/1 3 None None None 0.75921 0.75920 None None None None None None GYG2|0.001763876|91.62%
View index31 X rs5939132
dbSNP Clinvar 		2774478 802.77 A G . 1/1 29 None None None 0.96371 0.96370 None None None None None None GYG2|0.001763876|91.62%
View index31 X rs72232490,rs367904775
dbSNP Clinvar 		2793725 832.92 CTA C . 1/1 20 None None None 0.12980 0.12980 None None None None None None GYG2|0.001763876|91.62%
View index31 X rs149319890
dbSNP Clinvar 		2815964 37.74 C T . 1/1 2 None None None 0.01007 0.01007 None None None None None None None
View index31 X rs5939390
dbSNP Clinvar 		2816082 182.84 T C . 1/1 6 None None None 0.48185 0.48190 None None None None None None None
View index31 X rs211648
dbSNP Clinvar 		2832742 1431.77 G C . 1/1 46 None None None 0.74570 0.74570 0.29016 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs78142040
dbSNP Clinvar 		2832771 616.77 C T . 0/1 60 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs73632954
dbSNP Clinvar 		2832787 695.77 A G . 0/1 58 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs73632955
dbSNP Clinvar 		2832860 326.77 G A . 0/1 28 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs115343387
dbSNP Clinvar 		2832871 231.77 A G . 0/1 22 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs201839082
dbSNP Clinvar 		2832880 291.73 A AAT . 0/1 18 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs200436106
dbSNP Clinvar 		2832920 251.73 T TTA . 0/1 19 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs371305173
dbSNP Clinvar 		2833486 107.77 G A . 0/1 11 None None None 0.00954 0.00954 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs211649
dbSNP Clinvar 		2833506 190.77 G C . 0/1 19 None None None 0.74808 0.74810 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs73632956
dbSNP Clinvar 		2833507 302.77 T C . 0/1 19 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs369423737
dbSNP Clinvar 		2833533 1139.73 GT... G . 0/1 21 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs114724695
dbSNP Clinvar 		2833551 306.77 A T . 0/1 28 None None None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs115030126
dbSNP Clinvar 		2833552 329.77 C G . 0/1 29 None None None 0.00503 0.00503 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs112594989
dbSNP Clinvar 		2833580 365.77 A G . 0/1 41 None None None None None None None None None ARSD|0.001611053|92.29%

ARSD
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 index31 X rs111939179
dbSNP Clinvar 		2833605 476.77 C T . 0/1 44 STOP_GAINED HIGH None 10.47 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs373216270
dbSNP Clinvar 		2833628 462.77 A C . 0/1 59 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs377542415
dbSNP Clinvar 		2833631 505.77 A G . 0/1 62 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs370769167
dbSNP Clinvar 		2833638 507.77 C T . 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 4.61 0.39 0.93207 D None None None None ARSD|0.001611053|92.29%
View index31 X rs115332247
dbSNP Clinvar 		2833643 661.77 C A . 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.01 -0.75 0.05 0.63688 D None None None None ARSD|0.001611053|92.29%
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 index31 X rs112924969
dbSNP Clinvar 		2833749 625.77 T C . 0/1 68 None None None None None None None None None ARSD|0.001611053|92.29%