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Genes:
AC002365.1, AFF2, AIFM1, ALG13, AR, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX4, ARSD, ARSF, ARSH, ASB11, ASB12, ATP11C, ATP2B3, ATP6AP1, ATP7A, ATRX, BCOR, BCORL1, BGN, BRWD3, C1GALT1C1, CA5B, CACNA1F, CAPN6, CCDC160, CCDC22, CD40LG, CFP, CHM, CITED1, COL4A6, CPXCR1, CSAG1, CT45A5, CT47B1, CXorf21, CXorf38, CXorf40A, CXorf40B, CXorf56, CXorf58, CXorf64, CXorf67, CYSLTR1, DCAF12L2, DKC1, DMD, DNASE1L1, DOCK11, EBP, EDA2R, EIF2S3, ELF4, F9, FAAH2, FAM120C, FAM155B, FAM46D, FAM47B, FAM58A, FATE1, FGD1, FGF13, FMR1NB, FOXO4, FOXR2, FTHL17, GABRE, GABRQ, GDPD2, GLRA4, GLUD2, GPC4, GPR101, GPR112, GPR174, GPR50, GPR82, GPRASP1, GRIA3, GRIPAP1, GUCY2F, GYG2, H2BFM, H2BFWT, HCFC1, HDHD1, HDX, HEPH, HTATSF1, HTR2C, HUWE1, IDS, IGSF1, IRAK1, IRS4, KAL1, KCNE1L, KIAA1210, KIF4A, KLHL4, LAMP2, LCA10, LONRF3, MAGEA10, MAGEA11, MAGEA4, MAGEA6, MAGEA8, MAGEB10, MAGEB16, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGEH1, MAGIX, MAMLD1, MAOA, MAP3K15, MAP7D2, MBTPS2, MCF2, MED14, MORC4, MOSPD2, MPP1, MTMR1, MXRA5, NAP1L3, NHSL2, NOX1, NR0B1, NRK, NSDHL, NUDT10, NUDT11, NUP62CL, NXF5, OR13H1, PAGE1, PAGE2, PAGE3, PCDH19, PIN4, PIR, PJA1, PLXNB3, PNMA3, PNMA5, POF1B, POU3F4, PRKX, PRPS2, PRRG3, PTCHD1, RAB40A, RAI2, RBBP7, RBM3, RBM41, RBMX, RBMXL3, RGAG4, RIBC1, RP11-706O15.1, RPA4, RPGR, RPL10, RPS4X, RPS6KA3, SAGE1, SATL1, SHROOM2, SLC16A2, SLC25A43, SLC25A5, SLC7A3, SLC9A7, SLITRK2, SOWAHD, SPANXD, SPANXN5, SRPK3, SRPX, SSX5, SYN1, SYTL4, TAB3, TAF7L, TBC1D25, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL6, TCEANC, TENM1, TEX11, TEX13A, TFE3, TGIF2LX, TLR8, TMEM47, TRO, TRPC5, TXLNG, U82695.9, UBA1, UBE2NL, UBQLN2, UPRT, USP26, UTP14A, VBP1, VCX2, VSIG4, WDR13, WDR44, WWC3, XAGE3, XG, XIAP, ZBTB33, ZMAT1, ZNF182, ZNF280C, ZNF630, ZNF81, ZXDA, ZXDB,

Genes at Omim

AFF2, AIFM1, ALG13, AR, ARHGEF9, ATP11C, ATP2B3, ATP6AP1, ATP7A, ATRX, BCOR, BGN, BRWD3, C1GALT1C1, CACNA1F, CCDC22, CHM, COL4A6, CXorf56, DKC1, DMD, EBP, EIF2S3, F9, FAM58A, FGD1, GLUD2, GPR101, GRIA3, HCFC1, HUWE1, IDS, IGSF1, KAL1, KIF4A, LAMP2, MAMLD1, MAOA, MBTPS2, NR0B1, NSDHL, PCDH19, POU3F4, PTCHD1, RBMX, RPGR, RPL10, RPS6KA3, SLC16A2, SYN1, TEX11, TFE3, UBA1, UBQLN2, XG, XIAP,
AFF2 Mental retardation, X-linked, FRAXE type, 309548 (3)
AIFM1 Combined oxidative phosphorylation deficiency 6, 300816 (3)
Cowchock syndrome, 310490 (3)
Deafness, X-linked 5, 300614 (3)
ALG13 Epileptic encephalopathy, early infantile, 36, 300884 (3)
?Congenital disorder of glycosylation, type Is, 300884 (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)
ARHGEF9 Epileptic encephalopathy, early infantile, 8, 300607 (3)
ATP11C ?Hemolytic anemia, congenital, X-linked, 301015 (3)
ATP2B3 ?Spinocerebellar ataxia, X-linked 1, 302500 (3)
ATP6AP1 Immunodeficiency 47, 300972 (3)
ATP7A Menkes disease, 309400 (3)
Occipital horn syndrome, 304150 (3)
Spinal muscular atrophy, distal, X-linked 3, 300489 (3)
ATRX Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3)
Alpha-thalassemia/mental retardation syndrome, 301040 (3)
Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
BCOR Microphthalmia, syndromic 2, 300166 (3)
BGN Meester-Loeys syndrome, 300989 (3)
Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3)
BRWD3 Mental retardation, X-linked 93, 300659 (3)
C1GALT1C1 Tn polyagglutination syndrome, somatic, 300622 (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)
CHM Choroideremia, 303100 (3)
COL4A6 ?Deafness, X-linked 6, 300914 (3)
CXorf56 ?Mental retardation, X-linked 107, 301013 (3)
DKC1 Dyskeratosis congenita, X-linked, 305000 (3)
DMD Becker muscular dystrophy, 300376 (3)
Cardiomyopathy, dilated, 3B, 302045 (3)
Duchenne muscular dystrophy, 310200 (3)
EBP Chondrodysplasia punctata, X-linked dominant, 302960 (3)
MEND syndrome, 300960 (3)
EIF2S3 MEHMO syndrome, 300148 (3)
F9 Hemophilia B, 306900 (3)
{Warfarin sensitivity}, 122700 (3)
Thrombophilia, X-linked, due to factor IX defect, 300807 (3)
{Deep venous thrombosis, protection against}, 300807 (3)
FAM58A STAR syndrome, 300707 (3)
FGD1 Aarskog-Scott syndrome, 305400 (3)
Mental retardation, X-linked syndromic 16, 305400 (3)
GLUD2 {Parkinson disease, age of onset, modifier}, 168600 (3)
GPR101 Pituitary adenoma 2, GH-secreting, 300943 (3)
GRIA3 Mental retardation, X-linked 94, 300699 (3)
HCFC1 Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)
HUWE1 Mental retardation, X-linked syndromic, Turner type, 300706 (3)
IDS Mucopolysaccharidosis II, 309900 (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)
LAMP2 Danon disease, 300257 (3)
MAMLD1 Hypospadias 2, X-linked, 300758 (3)
MAOA Brunner syndrome, 300615 (3)
{Antisocial behavior}, 300615 (3)
MBTPS2 IFAP syndrome with or without BRESHECK syndrome, 308205 (3)
Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3)
Osteogenesis imperfecta, type XIX, 301014 (3)
?Olmsted syndrome, X-linked, 300918 (3)
NR0B1 Adrenal hypoplasia, congenital, 300200 (3)
46XY sex reversal 2, dosage-sensitive, 300018 (3)
NSDHL CK syndrome, 300831 (3)
CHILD syndrome, 308050 (3)
PCDH19 Epileptic encephalopathy, early infantile, 9, 300088 (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)
RPGR Cone-rod dystrophy, X-linked, 1, 304020 (3)
Macular degeneration, X-linked atrophic, 300834 (3)
Retinitis pigmentosa 3, 300029 (3)
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3)
RPL10 Mental retardation, X-linked, syndromic, 35, 300998 (3)
{Autism, susceptibility to, X-linked 5}, 300847 (3)
RPS6KA3 Coffin-Lowry syndrome, 303600 (3)
Mental retardation, X-linked 19, 300844 (3)
SLC16A2 Allan-Herndon-Dudley syndrome, 300523 (3)
SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
TEX11 Spermatogenic failure, X-linked, 2, 309120 (3)
TFE3 Renal cell carcinoma, papillary, 1, 300854 (3)
UBA1 Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
UBQLN2 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 (3)
XG [Blood group, XG system] (3)
XIAP Lymphoproliferative syndrome, X-linked, 2, 300635 (3)

Genes at Clinical Genomics Database

AFF2, AIFM1, ALG13, AR, ARHGEF9, ATP2B3, ATP7A, ATRX, BCOR, BRWD3, CACNA1F, CCDC22, CD40LG, CFP, CHM, COL4A6, DKC1, DMD, EBP, F9, FAM58A, FGD1, GPR101, GRIA3, HCFC1, HUWE1, IDS, IGSF1, KIF4A, LAMP2, MAMLD1, MAOA, MBTPS2, NR0B1, NSDHL, NXF5, PCDH19, POF1B, POU3F4, PTCHD1, RBMX, RPGR, RPS6KA3, SLC16A2, SYN1, TENM1, TEX11, UBA1, UBQLN2, XG, XIAP, ZNF81,
AFF2 Premature ovarian failure
AIFM1 Deafness, X-linked 5
ALG13 Epileptic encephalopathy, early infantile, 36
AR Androgen insensitivity
Androgen insensitivity, partial
ARHGEF9 Epileptic encephalopathy, early infantile, 8
ATP2B3 Spinocerebellar ataxia, X-linked 1
ATP7A Menkes disease
ATRX Mental retardation-hypotonic facies syndrome, X-linked
Juberg-Marsidi syndrome
Carpenter-Waziri syndrome
Holmes-Gang syndrome
Smith-Fineman-Myers syndrome
Alpha-thalassemia/mental retardation syndrome
BCOR Microphthalmia, syndromic 2
Oculofaciocardiodental syndrome
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
CD40LG Immunodeficiency, with hyper-IgM, type 1
CFP Properdin deficiency, X-linked
CHM Choiroideremia
COL4A6 Deafness, X-linked, with cochlear malformation
DKC1 Dyskeratosis congenita, X-linked
Hoyeraal-Hreidarsson syndrome
DMD Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy, dilated, 3B
EBP Chondrodysplasia punctata 2, X-linked dominant
Male EBP disorder with neurologic defects (MEND)
F9 Hemophilia B
Thrombophilia, X-linked, due to factor IX defect
Warfarin sensitivity
FAM58A STAR syndrome
Toe syndactyly, telecanthus, and anogenital and renal malformations
FGD1 Aarskog-Scott syndrome
Mental retardation, X-linked syndromic 16
GPR101 Pituitary adenoma, growth hormone secreting, 2
GRIA3 Mental retardation, X-linked 94
HCFC1 Combined methylmalonic acidemia and hyperhomocysteinemia
HUWE1 Mental retardation, X-linked syndromic, Turner type
IDS Mucopolysaccharidosis type II
IGSF1 Central hypothyroidism and testicular enlargement
KIF4A Mental retardation, X-linked 100
LAMP2 Danon disease
MAMLD1 Hypospadias 2, X-linked
MAOA Brunner syndrome
MBTPS2 Keratosis follicularis spinulosa decalvans, X-linked
IFAP syndrome with or without BRESHECK syndrome
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
NR0B1 Adrenal hypoplasia, congenital
46,XY sex reversal 2
NSDHL Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
CK syndrome
NXF5 Familial heart block and focal segmental glomerulosclerosis
PCDH19 Epileptic encephalopathy, early infantile, 9
POF1B Premature ovarian failure 2B
POU3F4 Deafness, X-linked 2
PTCHD1 Autism susceptibility, X-linked 4
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
RPGR Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
RPS6KA3 Coffin-Lowry syndrome
Mental retardation, X-linked 19
SLC16A2 Allan-Herndon-Dudley syndrome
SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders
TENM1 Microphthalmia, isolated, with coloboma 9
TEX11 Spermatogenic failure, X-linked 2
UBA1 Spinal muscular atrophy, X-linked 2, infantile
UBQLN2 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
XG XG blood group
XIAP Lymphoproliferative syndrome, X-linked, 2
ZNF81 Mental retardation, X-linked 45

Genes at HGMD

Summary

Number of Variants: 2646
Number of Genes: 239

Export to: CSV

AC002365.1

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 myexome-1 annotated mendelmd X rs5934731
dbSNP Clinvar
9935844 4420.77 C T PASS 1/1 130 SYNONYMOUS_CODING LOW None 0.51656 0.51660 None None None None None None None
View myexome-1 annotated mendelmd X rs5934730
dbSNP Clinvar
9935526 5432.77 G T PASS 1/1 160 SYNONYMOUS_CODING LOW None 0.42967 0.42970 None None None None None None None
View myexome-1 annotated mendelmd X rs5934731
dbSNP Clinvar
9935844 4420.77 C T PASS 1/1 130 SYNONYMOUS_CODING LOW None 0.51656 0.51660 None None None None None None None
View myexome-1 annotated mendelmd X rs5934730
dbSNP Clinvar
9935526 5432.77 G T PASS 1/1 160 SYNONYMOUS_CODING LOW None 0.42967 0.42970 None None None None None None None

AFF2

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 myexome-1 annotated mendelmd X rs241084
dbSNP Clinvar
147800748 1176.77 A G PASS 0/1 116 None None None 0.28106 0.28110 0.30 0.00 None None None None None None AFF2|0.928741292|2.76%
View myexome-1 annotated mendelmd X rs241084
dbSNP Clinvar
147800748 1176.77 A G PASS 0/1 116 None None None 0.28106 0.28110 0.30 0.00 None None None None None None AFF2|0.928741292|2.76%

AIFM1

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 myexome-1 annotated mendelmd X rs1139851
dbSNP Clinvar
129283520 1438.77 A G PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.49113 0.49110 0.49020 None None None None None None AIFM1|0.770044974|6.56%
View myexome-1 annotated mendelmd X rs1139851
dbSNP Clinvar
129283520 1438.77 A G PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.49113 0.49110 0.49020 None None None None None None AIFM1|0.770044974|6.56%

ALG13

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 myexome-1 annotated mendelmd X rs5985637
dbSNP Clinvar
110963338 39.77 T C PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.00530 0.00530 0.01305 None None None None None None ALG13|0.14657544|43.52%
View myexome-1 annotated mendelmd X rs5985637
dbSNP Clinvar
110963338 39.77 T C PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.00530 0.00530 0.01305 None None None None None None ALG13|0.14657544|43.52%

AR

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 myexome-1 annotated mendelmd X rs6152
dbSNP Clinvar
66765627 1886.77 G A PASS 0/1 131 SYNONYMOUS_CODING LOW None 0.23868 0.23870 0.31894 None None None None None None AR|0.999436019|0.35%
View myexome-1 annotated mendelmd X rs6152
dbSNP Clinvar
66765627 1886.77 G A PASS 0/1 131 SYNONYMOUS_CODING LOW None 0.23868 0.23870 0.31894 None None None None None None AR|0.999436019|0.35%

ARHGEF9

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 myexome-1 annotated mendelmd X . 62926288 903.77 G A PASS 0/1 62 SYNONYMOUS_CODING LOW None None None None None None None ARHGEF9|0.63673638|10.55%
View myexome-1 annotated mendelmd X . 62926288 903.77 G A PASS 0/1 62 SYNONYMOUS_CODING LOW None None None None None None None ARHGEF9|0.63673638|10.55%

ARL13A

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 myexome-1 annotated mendelmd X rs6523438
dbSNP Clinvar
100245606 2917.77 A G PASS 1/1 94 None None None 0.85642 0.85640 0.16250 None None None None None None ARL13A|0.006011211|84.59%
View myexome-1 annotated mendelmd X rs3934462
dbSNP Clinvar
100243459 2369.77 G T PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.91338 0.91340 0.10304 0.12 0.00 None None None None None None ARL13A|0.006011211|84.59%
View myexome-1 annotated mendelmd X rs3934462
dbSNP Clinvar
100243459 2369.77 G T PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.91338 0.91340 0.10304 0.12 0.00 None None None None None None ARL13A|0.006011211|84.59%
View myexome-1 annotated mendelmd X rs6523438
dbSNP Clinvar
100245606 2917.77 A G PASS 1/1 94 None None None 0.85642 0.85640 0.16250 None None None None None None ARL13A|0.006011211|84.59%

ARMCX1

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 myexome-1 annotated mendelmd X rs1044275
dbSNP Clinvar
100808222 1400.77 C T PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.02649 0.02649 0.06987 None None None None None None ARMCX1|0.030084559|69.36%
View myexome-1 annotated mendelmd X rs1044275
dbSNP Clinvar
100808222 1400.77 C T PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.02649 0.02649 0.06987 None None None None None None ARMCX1|0.030084559|69.36%

ARMCX2

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 myexome-1 annotated mendelmd X rs3850315
dbSNP Clinvar
100911066 1682.77 C T PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.96689 0.96690 0.05737 None None None None None None ARMCX2|0.023937868|72.22%
View myexome-1 annotated mendelmd X rs3850315
dbSNP Clinvar
100911066 1682.77 C T PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.96689 0.96690 0.05737 None None None None None None ARMCX2|0.023937868|72.22%

ARMCX4

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 myexome-1 annotated mendelmd X rs5951336
dbSNP Clinvar
100749127 631.77 A G PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.69166 0.69170 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View myexome-1 annotated mendelmd X rs5991911
dbSNP Clinvar
100748078 1832.77 A G PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View myexome-1 annotated mendelmd X rs3174476
dbSNP Clinvar
100749585 1953.77 C T PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.44106 0.44110 None None None None None None ARMCX4|0.006015436|84.57%
View myexome-1 annotated mendelmd X rs5951333
dbSNP Clinvar
100745825 4209.77 T C PASS 1/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.66199 0.66200 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View myexome-1 annotated mendelmd X rs5951332
dbSNP Clinvar
100743826 2247.77 A G PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.61934 0.61930 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View myexome-1 annotated mendelmd X rs963618
dbSNP Clinvar
100743037 2099.77 C T PASS 1/1 58 START_GAINED LOW None 0.65987 0.65990 None None None None None None ARMCX4|0.006015436|84.57%
View myexome-1 annotated mendelmd X rs5951333
dbSNP Clinvar
100745825 4209.77 T C PASS 1/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.66199 0.66200 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View myexome-1 annotated mendelmd X rs3174476
dbSNP Clinvar
100749585 1953.77 C T PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.44106 0.44110 None None None None None None ARMCX4|0.006015436|84.57%
View myexome-1 annotated mendelmd X rs963618
dbSNP Clinvar
100743037 2099.77 C T PASS 1/1 58 START_GAINED LOW None 0.65987 0.65990 None None None None None None ARMCX4|0.006015436|84.57%
View myexome-1 annotated mendelmd X rs5991911
dbSNP Clinvar
100748078 1832.77 A G PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View myexome-1 annotated mendelmd X rs5951336
dbSNP Clinvar
100749127 631.77 A G PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.69166 0.69170 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View myexome-1 annotated mendelmd X rs5951332
dbSNP Clinvar
100743826 2247.77 A G PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.61934 0.61930 0.00 None None None None None None ARMCX4|0.006015436|84.57%

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 myexome-1 annotated mendelmd X rs211653
dbSNP Clinvar
2836037 505.77 G C PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.40636 0.40640 0.44466 0.13 0.05 None None None None None None ARSD|0.001611053|92.29%
View myexome-1 annotated mendelmd X rs211653
dbSNP Clinvar
2836037 505.77 G C PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.40636 0.40640 0.44466 0.13 0.05 None None None None None None ARSD|0.001611053|92.29%

ARSF

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 myexome-1 annotated mendelmd X rs5983003
dbSNP Clinvar
3002687 270.77 A G PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.79364 0.79360 0.29556 None None None None None None ARSF|0.001220406|94.34%
View myexome-1 annotated mendelmd X rs5983003
dbSNP Clinvar
3002687 270.77 A G PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.79364 0.79360 0.29556 None None None None None None ARSF|0.001220406|94.34%

ARSH

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 myexome-1 annotated mendelmd X rs5939407
dbSNP Clinvar
2942109 299.77 T C PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.74702 0.74700 0.36846 None None None None None None ARSH|0.004353843|86.54%
View myexome-1 annotated mendelmd X rs5939407
dbSNP Clinvar
2942109 299.77 T C PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.74702 0.74700 0.36846 None None None None None None ARSH|0.004353843|86.54%

ASB11

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 myexome-1 annotated mendelmd X rs5935944
dbSNP Clinvar
15332558 1806.77 A G PASS 0/1 172 None None None 0.35921 0.35920 0.32046 None None None None None None ASB11|0.151540693|42.75%
View myexome-1 annotated mendelmd X rs5935944
dbSNP Clinvar
15332558 1806.77 A G PASS 0/1 172 None None None 0.35921 0.35920 0.32046 None None None None None None ASB11|0.151540693|42.75%

ASB12

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 myexome-1 annotated mendelmd X rs147025022
dbSNP Clinvar
63445033 1940.77 G A PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.00053 0.00053 0.00038 None None None None None None ASB12|0.05455441|61.32%,MTMR8|0.017673392|75.49%
View myexome-1 annotated mendelmd X rs147025022
dbSNP Clinvar
63445033 1940.77 G A PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.00053 0.00053 0.00038 None None None None None None ASB12|0.05455441|61.32%,MTMR8|0.017673392|75.49%

ATP11C

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 myexome-1 annotated mendelmd X rs2491014
dbSNP Clinvar
138897130 1048.77 A C PASS 1/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.99205 0.99210 0.01516 1.00 0.00 None None None None None None ATP11C|0.389494809|21.44%
View myexome-1 annotated mendelmd X rs2491014
dbSNP Clinvar
138897130 1048.77 A C PASS 1/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.99205 0.99210 0.01516 1.00 0.00 None None None None None None ATP11C|0.389494809|21.44%

ATP2B3

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 myexome-1 annotated mendelmd X rs3020949
dbSNP Clinvar
152815089 5351.77 A G PASS 1/1 164 SYNONYMOUS_CODING LOW None 0.98543 0.98540 0.01051 None None None None None None ATP2B3|0.203946244|36.25%
View myexome-1 annotated mendelmd X rs2269415
dbSNP Clinvar
152823728 2502.77 G C PASS 0/1 192 SYNONYMOUS_CODING LOW None 0.47391 0.47390 0.38938 None None None None None None ATP2B3|0.203946244|36.25%
View myexome-1 annotated mendelmd X rs3020949
dbSNP Clinvar
152815089 5351.77 A G PASS 1/1 164 SYNONYMOUS_CODING LOW None 0.98543 0.98540 0.01051 None None None None None None ATP2B3|0.203946244|36.25%
View myexome-1 annotated mendelmd X rs2269415
dbSNP Clinvar
152823728 2502.77 G C PASS 0/1 192 SYNONYMOUS_CODING LOW None 0.47391 0.47390 0.38938 None None None None None None ATP2B3|0.203946244|36.25%

ATP6AP1

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 myexome-1 annotated mendelmd X rs28497482
dbSNP Clinvar
153657083 1090.77 A G PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.89351 0.89350 0.09485 None None None None None None ATP6AP1|0.067534855|57.98%
View myexome-1 annotated mendelmd X rs28497482
dbSNP Clinvar
153657083 1090.77 A G PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.89351 0.89350 0.09485 None None None None None None ATP6AP1|0.067534855|57.98%

ATP7A

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 myexome-1 annotated mendelmd X rs4826245
dbSNP Clinvar
77298857 1098.77 G A PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ATP7A|0.267298986|30.07%
View myexome-1 annotated mendelmd X rs4826245
dbSNP Clinvar
77298857 1098.77 G A PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ATP7A|0.267298986|30.07%

ATRX

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 myexome-1 annotated mendelmd X rs3088074
dbSNP Clinvar
76937963 1869.77 G C PASS 0/1 153 NON_SYNONYMOUS_CODING MODERATE None 0.55232 0.55230 0.49167 0.00 None None None None None None ATRX|0.768191445|6.65%
View myexome-1 annotated mendelmd X rs3088074
dbSNP Clinvar
76937963 1869.77 G C PASS 0/1 153 NON_SYNONYMOUS_CODING MODERATE None 0.55232 0.55230 0.49167 0.00 None None None None None None ATRX|0.768191445|6.65%

BCOR

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 myexome-1 annotated mendelmd X rs144606152
dbSNP Clinvar
39932808 1108.77 G A PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.01669 0.01669 0.03731 None None None None None None BCOR|0.481414102|16.71%
View myexome-1 annotated mendelmd X rs5917933
dbSNP Clinvar
39933339 6805.77 A G PASS 1/1 207 SYNONYMOUS_CODING LOW None 0.90305 0.90300 0.10425 None None None None None None BCOR|0.481414102|16.71%
View myexome-1 annotated mendelmd X rs144606152
dbSNP Clinvar
39932808 1108.77 G A PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.01669 0.01669 0.03731 None None None None None None BCOR|0.481414102|16.71%
View myexome-1 annotated mendelmd X rs5917933
dbSNP Clinvar
39933339 6805.77 A G PASS 1/1 207 SYNONYMOUS_CODING LOW None 0.90305 0.90300 0.10425 None None None None None None BCOR|0.481414102|16.71%

BCORL1

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 myexome-1 annotated mendelmd X rs4830173
dbSNP Clinvar
129147079 3170.77 T C PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None BCORL1|0.202266088|36.48%
View myexome-1 annotated mendelmd X rs4830173
dbSNP Clinvar
129147079 3170.77 T C PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None BCORL1|0.202266088|36.48%

BGN

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 myexome-1 annotated mendelmd X rs4833
dbSNP Clinvar
152770230 3115.77 G A PASS 0/1 183 SYNONYMOUS_CODING LOW None 0.38861 0.38860 0.35757 None None None None None None BGN|0.555214937|13.51%
View myexome-1 annotated mendelmd X rs1126499
dbSNP Clinvar
152771509 878.77 C T PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.33536 0.33540 0.35624 None None None None None None BGN|0.555214937|13.51%
View myexome-1 annotated mendelmd X rs4833
dbSNP Clinvar
152770230 3115.77 G A PASS 0/1 183 SYNONYMOUS_CODING LOW None 0.38861 0.38860 0.35757 None None None None None None BGN|0.555214937|13.51%
View myexome-1 annotated mendelmd X rs1126499
dbSNP Clinvar
152771509 878.77 C T PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.33536 0.33540 0.35624 None None None None None None BGN|0.555214937|13.51%

BRWD3

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 myexome-1 annotated mendelmd X rs3122407
dbSNP Clinvar
79943569 3546.77 T C PASS 1/1 113 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.98967 0.98970 0.00975 1.00 0.00 None None None None None None BRWD3|0.286279937|28.63%
View myexome-1 annotated mendelmd X rs3122407
dbSNP Clinvar
79943569 3546.77 T C PASS 1/1 113 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.98967 0.98970 0.00975 1.00 0.00 None None None None None None BRWD3|0.286279937|28.63%

C1GALT1C1

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 myexome-1 annotated mendelmd X rs17261572
dbSNP Clinvar
119760629 1871.77 A T PASS 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.14755 0.14750 0.15983 1.00 0.00 None None None None None None C1GALT1C1|0.400695181|20.72%
View myexome-1 annotated mendelmd X rs17261572
dbSNP Clinvar
119760629 1871.77 A T PASS 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.14755 0.14750 0.15983 1.00 0.00 None None None None None None C1GALT1C1|0.400695181|20.72%

CA5B

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 myexome-1 annotated mendelmd X rs1808
dbSNP Clinvar
15800751 1295.77 G A PASS 0/1 133 SYNONYMOUS_CODING LOW None 0.34782 0.34780 0.31696 None None None None None None CA5B|0.115811341|48.17%
View myexome-1 annotated mendelmd X rs1808
dbSNP Clinvar
15800751 1295.77 G A PASS 0/1 133 SYNONYMOUS_CODING LOW None 0.34782 0.34780 0.31696 None None None None None None CA5B|0.115811341|48.17%

CACNA1F

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 myexome-1 annotated mendelmd X rs2235127
dbSNP Clinvar
49081291 1028.77 G A PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.44053 0.44050 0.33374 None None None None None None CACNA1F|0.172930076|39.96%
View myexome-1 annotated mendelmd X rs2075866
dbSNP Clinvar
49071964 716.77 A G PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.55205 0.55210 0.45565 None None None None None None CACNA1F|0.172930076|39.96%
View myexome-1 annotated mendelmd X rs2235127
dbSNP Clinvar
49081291 1028.77 G A PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.44053 0.44050 0.33374 None None None None None None CACNA1F|0.172930076|39.96%
View myexome-1 annotated mendelmd X rs2075866
dbSNP Clinvar
49071964 716.77 A G PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.55205 0.55210 0.45565 None None None None None None CACNA1F|0.172930076|39.96%

CAPN6

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 myexome-1 annotated mendelmd X rs17882616
dbSNP Clinvar
110494277 2160.77 A G PASS 0/1 198 SYNONYMOUS_CODING LOW None 0.00848 0.00848 0.02215 None None None None None None CAPN6|0.398354771|20.87%
View myexome-1 annotated mendelmd X rs17882616
dbSNP Clinvar
110494277 2160.77 A G PASS 0/1 198 SYNONYMOUS_CODING LOW None 0.00848 0.00848 0.02215 None None None None None None CAPN6|0.398354771|20.87%

CCDC160

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 myexome-1 annotated mendelmd X rs2428577
dbSNP Clinvar
133379551 2162.77 C T PASS 1/1 71 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CCDC160|0.006302974|84.27%
View myexome-1 annotated mendelmd X rs2428577
dbSNP Clinvar
133379551 2162.77 C T PASS 1/1 71 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CCDC160|0.006302974|84.27%

CCDC22

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 myexome-1 annotated mendelmd X rs2294020
dbSNP Clinvar
49103224 262.77 G A PASS 0/1 15 SYNONYMOUS_CODING LOW None 0.46623 0.46620 0.37489 None None None None None None CCDC22|0.132061966|45.6%
View myexome-1 annotated mendelmd X rs2294020
dbSNP Clinvar
49103224 262.77 G A PASS 0/1 15 SYNONYMOUS_CODING LOW None 0.46623 0.46620 0.37489 None None None None None None CCDC22|0.132061966|45.6%

CD40LG

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 myexome-1 annotated mendelmd X rs1126535
dbSNP Clinvar
135730555 714.77 T C PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.22490 0.22490 0.17258 None None None None None None CD40LG|0.703733653|8.39%
View myexome-1 annotated mendelmd X rs1126535
dbSNP Clinvar
135730555 714.77 T C PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.22490 0.22490 0.17258 None None None None None None CD40LG|0.703733653|8.39%

CFP

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 myexome-1 annotated mendelmd X rs1048118
dbSNP Clinvar
47483800 1864.77 G A PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.20689 0.20690 0.23819 None None None None None None CFP|0.039345456|66%
View myexome-1 annotated mendelmd X rs1048118
dbSNP Clinvar
47483800 1864.77 G A PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.20689 0.20690 0.23819 None None None None None None CFP|0.039345456|66%

CHM

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 myexome-1 annotated mendelmd X rs10217950
dbSNP Clinvar
85219021 937.77 T C PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.12000 0.12000 0.16937 None None None None None None CHM|0.332696206|25.28%
View myexome-1 annotated mendelmd X rs10217950
dbSNP Clinvar
85219021 937.77 T C PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.12000 0.12000 0.16937 None None None None None None CHM|0.332696206|25.28%

CITED1

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 myexome-1 annotated mendelmd X rs3012627
dbSNP Clinvar
71521867 1643.77 G C PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.80927 0.80930 0.08629 1.00 0.00 None None None None None None PIN4|0.129268487|45.97%,CITED1|0.122175989|47.09%
View myexome-1 annotated mendelmd X rs3012627
dbSNP Clinvar
71521867 1643.77 G C PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.80927 0.80930 0.08629 1.00 0.00 None None None None None None PIN4|0.129268487|45.97%,CITED1|0.122175989|47.09%

COL4A6

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 myexome-1 annotated mendelmd X rs5973851
dbSNP Clinvar
107417730 1016.77 G A PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.40609 0.40610 0.23260 None None None None None None COL4A6|0.130757642|45.78%
View myexome-1 annotated mendelmd X rs1266719
dbSNP Clinvar
107437848 1586.77 G C PASS 0/1 89 None None None 0.44980 0.44980 0.36476 0.00 None None None None None None COL4A6|0.130757642|45.78%
View myexome-1 annotated mendelmd X rs1042065
dbSNP Clinvar
107433688 1125.77 A G PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.57325 0.57320 0.25741 0.00 None None None None None None COL4A6|0.130757642|45.78%
View myexome-1 annotated mendelmd X rs4623610
dbSNP Clinvar
107418906 1562.77 A G PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.98384 0.98380 0.01695 None None None None None None COL4A6|0.130757642|45.78%
View myexome-1 annotated mendelmd X rs1266719
dbSNP Clinvar
107437848 1586.77 G C PASS 0/1 89 None None None 0.44980 0.44980 0.36476 0.00 None None None None None None COL4A6|0.130757642|45.78%
View myexome-1 annotated mendelmd X rs5973851
dbSNP Clinvar
107417730 1016.77 G A PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.40609 0.40610 0.23260 None None None None None None COL4A6|0.130757642|45.78%
View myexome-1 annotated mendelmd X rs1042065
dbSNP Clinvar
107433688 1125.77 A G PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.57325 0.57320 0.25741 0.00 None None None None None None COL4A6|0.130757642|45.78%
View myexome-1 annotated mendelmd X rs4623610
dbSNP Clinvar
107418906 1562.77 A G PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.98384 0.98380 0.01695 None None None None None None COL4A6|0.130757642|45.78%

CPXCR1

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 myexome-1 annotated mendelmd X rs5940915
dbSNP Clinvar
88008423 839.77 A C PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.91364 0.91360 0.09442 1.00 0.00 None None None None None None CPXCR1|0.001467264|92.95%
View myexome-1 annotated mendelmd X rs5940915
dbSNP Clinvar
88008423 839.77 A C PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.91364 0.91360 0.09442 1.00 0.00 None None None None None None CPXCR1|0.001467264|92.95%