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+ Genes 223

Genes:
AC002365.1, AFF2, AIFM1, AMELX, APEX2, ARHGAP6, ARL13A, ARMCX2, ARMCX4, ARSD, ASB11, ATP11C, ATP2B3, ATP6AP1, ATP7A, ATXN3L, BCOR, BCORL1, BEX2, BGN, BRWD3, C1GALT1C1, CA5B, CACNA1F, CCDC160, CCDC22, CFP, CHRDL1, CITED1, CLCN4, CNKSR2, COL4A6, CPXCR1, CSAG1, CT45A5, CT47B1, CXorf21, CXorf24, CXorf38, CXorf40A, CXorf56, CXorf58, CXorf65, CXorf66, CYSLTR1, DACH2, DKC1, DLG3, DMD, DNASE1L1, DRP2, EBP, EDA2R, EIF2S3, ELF4, ENOX2, FAAH2, FAM104B, FAM120C, FAM127B, FAM155B, FAM46D, FANCB, FATE1, FGF13, FMR1, FOXR2, GABRE, GABRQ, GAGE12J, GDPD2, GK, GLRA2, GLRA4, GPR112, GPR174, GPR50, GPR82, GRIA3, GRIPAP1, GRPR, GUCY2F, GYG2, H2BFM, H2BFWT, HAUS7, HCCS, HCFC1, HDX, HEPH, HUWE1, IDS, IGSF1, IL13RA1, IRAK1, KAL1, KCNE1L, KIAA1210, KIF4A, KLHL4, LCA10, LONRF3, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA4, MAGEA8, MAGEB16, MAGEB2, MAGEB3, MAGEB4, MAGEC1, MAGEC2, MAGEC3, MAGED2, MAGIX, MAMLD1, MAOA, MAP3K15, MAP7D2, MAP7D3, MBTPS2, MCF2, MED12, MED14, MORC4, MPP1, MTMR1, NAP1L3, NHSL2, NONO, NR0B1, NRK, NSDHL, NXF5, OPN1LW, OR13H1, OTC, PAGE2, PAGE3, PASD1, PCDH11X, PCSK1N, PDHA1, PDZD4, PGAM4, PIN4, PIR, PJA1, PLXNB3, PNMA3, POF1B, POU3F4, PRPS2, PRRG3, PTCHD1, RAB40A, RAB40AL, RAI2, RBBP7, RBMX, RBMXL3, RGAG1, RGAG4, RIBC1, RP11-706O15.1, RPA4, RPL10, RPS4X, SATL1, SHROOM2, SHROOM4, SLC25A43, SLC25A5, SLC7A3, SLC9A7, SLITRK2, SNX12, SOWAHD, SPANXN2, SPANXN5, SPIN2A, SRPK3, SSX1, SSX5, SYN1, SYTL4, TAB3, TAF7L, TBC1D25, TCEAL2, TCEANC, TENM1, TEX11, TFE3, TGIF2LX, TIMM17B, TIMP1, TLR8, TMEM47, TNMD, TXLNG, UBA1, UPRT, USP26, USP51, VBP1, VCX, WDR13, WDR44, WWC3, XAGE3, XG, XPNPEP2, ZMAT1, ZNF280C, ZNF41, ZNF645, ZNF75D, ZNF81, ZRSR2, ZXDB,

+ Genes associated with diseases 57

Genes at Omim

AFF2, AIFM1, AMELX, ATP11C, ATP2B3, ATP6AP1, ATP7A, BCOR, BGN, BRWD3, C1GALT1C1, CACNA1F, CCDC22, CHRDL1, CLCN4, CNKSR2, COL4A6, CXorf56, DKC1, DLG3, DMD, EBP, EIF2S3, FANCB, FMR1, GK, GRIA3, HCCS, HCFC1, HUWE1, IDS, IGSF1, KAL1, KIF4A, MAGED2, MAMLD1, MAOA, MBTPS2, MED12, NONO, NR0B1, NSDHL, OPN1LW, OTC, PDHA1, POU3F4, PTCHD1, RBMX, RPL10, SHROOM4, SSX1, SYN1, TEX11, TFE3, UBA1, XG, XPNPEP2,
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)
AMELX Amelogenesis imperfecta, type 1E, 301200 (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)
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)
CHRDL1 Megalocornea 1, X-linked 309300 (3)
CLCN4 Raynaud-Claes syndrome, 300114 (3)
CNKSR2 Mental retardation, X-linked, syndromic, Houge type, 301008 (3)
COL4A6 ?Deafness, X-linked 6, 300914 (3)
CXorf56 ?Mental retardation, X-linked 107, 301013 (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)
EBP Chondrodysplasia punctata, X-linked dominant, 302960 (3)
MEND syndrome, 300960 (3)
EIF2S3 MEHMO syndrome, 300148 (3)
FANCB Fanconi anemia, complementation group B, 300514 (3)
FMR1 Fragile X syndrome, 300624 (3)
Fragile X tremor/ataxia syndrome, 300623 (3)
Premature ovarian failure 1, 311360 (3)
GK Glycerol kinase deficiency, 307030 (3)
GRIA3 Mental retardation, X-linked 94, 300699 (3)
HCCS Linear skin defects with multiple congenital anomalies 1, 309801 (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)
MAGED2 Bartter syndrome, type 5, antenatal, transient, 300971 (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)
MED12 Lujan-Fryns syndrome, 309520 (3)
Ohdo syndrome, X-linked, 300895 (3)
Opitz-Kaveggia syndrome, 305450 (3)
NONO Mental retardation, X-linked, syndromic 34, 300967 (3)
NR0B1 Adrenal hypoplasia, congenital, 300200 (3)
46XY sex reversal 2, dosage-sensitive, 300018 (3)
NSDHL CK syndrome, 300831 (3)
CHILD syndrome, 308050 (3)
OPN1LW Blue cone monochromacy, 303700 (3)
Colorblindness, protan, 303900 (3)
OTC Ornithine transcarbamylase deficiency, 311250 (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)
RPL10 Mental retardation, X-linked, syndromic, 35, 300998 (3)
{Autism, susceptibility to, X-linked 5}, 300847 (3)
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
SSX1 ?Sarcoma, synovial, 300813 (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)
XG [Blood group, XG system] (3)
XPNPEP2 {Angioedema induced by ACE inhibitors, susceptibility to}, 300909 (3)

Genes at Clinical Genomics Database

AFF2, AIFM1, AMELX, ATP2B3, ATP7A, BCOR, BRWD3, CACNA1F, CCDC22, CFP, CHRDL1, COL4A6, DKC1, DLG3, DMD, EBP, FANCB, FMR1, GK, GRIA3, HCCS, HCFC1, HUWE1, IDS, IGSF1, KIF4A, MAGED2, MAMLD1, MAOA, MBTPS2, MED12, NONO, NR0B1, NSDHL, NXF5, OPN1LW, OTC, PDHA1, POF1B, POU3F4, PTCHD1, RBMX, SHROOM4, SYN1, TENM1, TEX11, UBA1, XG, XPNPEP2, ZNF41, ZNF81,
AFF2 Premature ovarian failure
AIFM1 Deafness, X-linked 5
AMELX Amelogenesis imperfecta, type 1E
ATP2B3 Spinocerebellar ataxia, X-linked 1
ATP7A Menkes disease
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
CFP Properdin deficiency, X-linked
CHRDL1 Megalocornea 1, X-linked
COL4A6 Deafness, X-linked, with cochlear malformation
DKC1 Dyskeratosis congenita, X-linked
Hoyeraal-Hreidarsson syndrome
DLG3 Mental retardation, X-linked 90
DMD Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy, dilated, 3B
EBP Chondrodysplasia punctata 2, X-linked dominant
Male EBP disorder with neurologic defects (MEND)
FANCB Fanconi anemia,complementation group B
FMR1 Premature ovarian failure
GK Glycerol kinase deficiency
GRIA3 Mental retardation, X-linked 94
HCCS Linear skin defects with multiple congenital anomalies 1 (MIDAS syndrome)
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
MAGED2 Bartter syndrome type 5, antenatal transient
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
MED12 Lujan-Fryns syndrome
Opitz-Kaveggia syndrome
Mental retardation, X-linked, with Marfanoid habitus
FG syndrome
Ohdo syndrome
NONO Mental retardation, X-linked, syndrome 34
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
OPN1LW Colorblindness, partial, protan series
Blue cone monochromacy
Red cone polymorphism
OTC Ornithine transcarbamylase deficiency
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency
Leigh syndrome, X-linked
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
SHROOM4 Stocco dos Santos X-linked mental retardation 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
XG XG blood group
XPNPEP2 Angioedema induced by ACE inhibitors, susceptibility to
ZNF41 Mental retardation, X-linked 89
ZNF81 Mental retardation, X-linked 45

Genes at HGMD

Summary

Number of Variants: 1021
Number of Genes: 223

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 fpd-aix-mes-312-12 X rs5934730
dbSNP Clinvar 		9935526 15213.0 G T PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.42967 0.42970 None None None None None None None
View fpd-aix-mes-312-12 X rs5934731
dbSNP Clinvar 		9935844 6321.0 C T PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.51656 0.51660 None None None None None None None

AFF2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 X rs782733571
dbSNP Clinvar 		147744121 1216.0 C T PASS 0/1 123 SYNONYMOUS_CODING LOW None 0.00026 0.00026 None None None None None None AFF2|0.928741292|2.76%
View fpd-aix-mes-312-12 X rs241084
dbSNP Clinvar 		147800748 8538.0 A G PASS 0/1 139 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 X rs1139851
dbSNP Clinvar 		129283520 11845.0 A G PASS 1/1 119 SYNONYMOUS_CODING LOW None 0.49113 0.49110 0.49020 None None None None None None AIFM1|0.770044974|6.56%

AMELX
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 X rs2106416
dbSNP Clinvar 		11316742 2042.0 C T PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.16477 0.16480 0.24510 None None None None None None ARHGAP6|0.321783914|26.02%,AMELX|0.618887456|11.12%

APEX2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 X rs61752443
dbSNP Clinvar 		55028691 1531.0 C T PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.00424 0.00424 0.00757 None None None None None None APEX2|0.037237497|66.69%

ARHGAP6
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 fpd-aix-mes-312-12 X rs1009758
dbSNP Clinvar 		11157535 3255.0 G C PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.15656 0.15660 0.20941 0.37 0.00 None None None None None None ARHGAP6|0.321783914|26.02%

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 fpd-aix-mes-312-12 X rs6523438
dbSNP Clinvar 		100245606 17784.0 A G PASS 0/1 119 None None None 0.85642 0.85640 0.16250 None None None None None None ARL13A|0.006011211|84.59%
View fpd-aix-mes-312-12 X rs3934462
dbSNP Clinvar 		100243459 20616.0 G T PASS 0/1 140 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%

ARMCX2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 X rs3850315
dbSNP Clinvar 		100911066 16397.0 C T PASS 1/1 75 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
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 X rs963618
dbSNP Clinvar 		100743037 5198.0 C T PASS 0/1 64 START_GAINED LOW None 0.65987 0.65990 None None None None None None ARMCX4|0.006015436|84.57%
View fpd-aix-mes-312-12 X rs5991911
dbSNP Clinvar 		100748078 11760.0 A G PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View fpd-aix-mes-312-12 X rs5951333
dbSNP Clinvar 		100745825 4645.0 T C PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.66199 0.66200 0.61 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View fpd-aix-mes-312-12 X rs5951332
dbSNP Clinvar 		100743826 9348.0 A G PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.61934 0.61930 0.65 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View fpd-aix-mes-312-12 X . 100745974 35.0 A T AltDepth 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.01 None None None None None None ARMCX4|0.006015436|84.57%
View fpd-aix-mes-312-12 X rs5951336
dbSNP Clinvar 		100749127 1190.0 A G AltDepth 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.69166 0.69170 1.00 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View fpd-aix-mes-312-12 X rs3174476
dbSNP Clinvar 		100749585 9019.0 C T PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.44106 0.44110 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 fpd-aix-mes-312-12 X rs146636025
dbSNP Clinvar 		2833720 2346.0 G A PASS 1/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.00026 0.00026 0.00123 0.01 0.99 None None None None None None ARSD|0.001611053|92.29%
View fpd-aix-mes-312-12 X rs67272620
dbSNP Clinvar 		2836041 3798.0 A G,T SnpCluster 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.98 0.00 None None None None None None ARSD|0.001611053|92.29%
View fpd-aix-mes-312-12 X rs211653
dbSNP Clinvar 		2836037 4760.0 G C SnpCluster 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.40636 0.40640 0.44466 0.13 0.08 None None None None None None ARSD|0.001611053|92.29%

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 fpd-aix-mes-312-12 X rs5935944
dbSNP Clinvar 		15332558 21515.0 A G PASS 0/1 249 None None None 0.35921 0.35920 0.32046 None None None None None None ASB11|0.151540693|42.75%

ATP11C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 X rs2491014
dbSNP Clinvar 		138897130 49125.0 A C PASS 1/1 269 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 fpd-aix-mes-312-12 X rs3020949
dbSNP Clinvar 		152815089 10967.0 A G PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.98543 0.98540 0.01051 None None None None None None ATP2B3|0.203946244|36.25%
View fpd-aix-mes-312-12 X rs2269415
dbSNP Clinvar 		152823728 9347.0 G C PASS 1/1 70 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
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-aix-mes-312-12 X rs28497482
dbSNP Clinvar 		153657083 1765.0 A G PASS 1/1 15 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 fpd-aix-mes-312-12 X rs4826245
dbSNP Clinvar 		77298857 34442.0 G A PASS 1/1 155 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ATP7A|0.267298986|30.07%

ATXN3L
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 fpd-aix-mes-312-12 X rs4830842
dbSNP Clinvar 		13337059 10630.0 C T PASS 0/1 156 NON_SYNONYMOUS_CODING MODERATE None 0.65351 0.65350 0.47569 1.00 0.00 None None None None None None ATXN3L|0.001386148|93.42%

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 fpd-aix-mes-312-12 X rs5917933
dbSNP Clinvar 		39933339 13263.0 A G PASS 1/1 78 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 fpd-aix-mes-312-12 X rs4830173
dbSNP Clinvar 		129147079 32203.0 T C PASS 1/1 158 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None BCORL1|0.202266088|36.48%

BEX2
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 fpd-aix-mes-312-12 X rs7557
dbSNP Clinvar 		102564583 18411.0 A G PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.83285 0.83280 0.30247 None None None None None None BEX2|0.018970374|74.68%

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 fpd-aix-mes-312-12 X rs1126499
dbSNP Clinvar 		152771509 10558.0 C T PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.33536 0.33540 0.35624 None None None None None None BGN|0.555214937|13.51%
View fpd-aix-mes-312-12 X rs4833
dbSNP Clinvar 		152770230 4754.0 G A PASS 0/1 97 SYNONYMOUS_CODING LOW None 0.38861 0.38860 0.35757 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 fpd-aix-mes-312-12 X rs3122407
dbSNP Clinvar 		79943569 26518.0 T C PASS 1/1 151 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 fpd-aix-mes-312-12 X rs17261572
dbSNP Clinvar 		119760629 3907.0 A T PASS 1/1 104 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 fpd-aix-mes-312-12 X rs1808
dbSNP Clinvar 		15800751 6343.0 G A PASS 1/1 104 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 fpd-aix-mes-312-12 X rs2075866
dbSNP Clinvar 		49071964 657.0 A G PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.55205 0.55210 0.45565 None None None None None None CACNA1F|0.172930076|39.96%
View fpd-aix-mes-312-12 X rs2235127
dbSNP Clinvar 		49081291 4824.0 G A PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.44053 0.44050 0.33374 None None None None None None CACNA1F|0.172930076|39.96%

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 fpd-aix-mes-312-12 X rs2428577
dbSNP Clinvar 		133379551 39126.0 C T PASS 1/1 161 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 fpd-aix-mes-312-12 X rs2294020
dbSNP Clinvar 		49103224 7630.0 G A PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.46623 0.46620 0.37489 None None None None None None CCDC22|0.132061966|45.6%

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 fpd-aix-mes-312-12 X rs1048118
dbSNP Clinvar 		47483800 1622.0 G A PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.20689 0.20690 0.23819 None None None None None None CFP|0.039345456|66%

CHRDL1
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 fpd-aix-mes-312-12 X rs5943053
dbSNP Clinvar 		109931856 9527.0 T C PASS 1/1 115 SYNONYMOUS_CODING LOW None 0.38782 0.38780 0.46246 None None None None None None CHRDL1|0.341792402|24.72%

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 fpd-aix-mes-312-12 X rs3012627
dbSNP Clinvar 		71521867 7786.0 G C PASS 1/1 32 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%

CLCN4
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 fpd-aix-mes-312-12 X rs36049237
dbSNP Clinvar 		10182007 1775.0 C T PASS 0/1 153 SYNONYMOUS_CODING LOW None 0.00026 0.00026 0.00028 None None None None None None CLCN4|0.28863626|28.47%

CNKSR2
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 fpd-aix-mes-312-12 X rs781274036
dbSNP Clinvar 		21393016 1750.0 A G PASS 0/1 172 START_LOST HIGH None 0.00 0.95 None None None None None None CNKSR2|0.732601094|7.56%

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 fpd-aix-mes-312-12 X rs4623610
dbSNP Clinvar 		107418906 41350.0 A G PASS 1/1 216 SYNONYMOUS_CODING LOW None 0.98384 0.98380 0.01695 None None None None None None COL4A6|0.130757642|45.78%
View fpd-aix-mes-312-12 X rs1266719
dbSNP Clinvar 		107437848 21117.0 G C PASS 1/1 158 None None None 0.44980 0.44980 0.36476 0.95 0.00 None None None None None None COL4A6|0.130757642|45.78%
View fpd-aix-mes-312-12 X rs750814219
dbSNP Clinvar 		107422570 2152.0 C T PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None COL4A6|0.130757642|45.78%
View fpd-aix-mes-312-12 X rs756582576
dbSNP Clinvar 		107433664 3323.0 C T PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.19 0.02 None None None None None None COL4A6|0.130757642|45.78%
View fpd-aix-mes-312-12 X rs1042065
dbSNP Clinvar 		107433688 16167.0 A G PASS 1/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.57325 0.57320 0.25741 1.00 0.00 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 fpd-aix-mes-312-12 X rs5984611
dbSNP Clinvar 		88008807 9611.0 G A PASS 0/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.23046 0.23050 0.32926 0.63 0.50 None None None None None None CPXCR1|0.001467264|92.95%
View fpd-aix-mes-312-12 X rs5940915
dbSNP Clinvar 		88008423 61234.0 A C PASS 1/1 271 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%

CSAG1
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 fpd-aix-mes-312-12 X rs2515848
dbSNP Clinvar 		151909156 102006.0 A G PASS 1/1 608 NON_SYNONYMOUS_CODING MODERATE None 0.57642 0.57640 0.36315 0.55 0.00 None None None None None None CSAG1|0.000765743|96.9%

CT45A5
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 fpd-aix-mes-312-12 X rs2034920
dbSNP Clinvar 		134948034 56149.0 A G PASS 1/1 404 SYNONYMOUS_CODING LOW None 0.83470 0.83470 0.22066 None None None None None None CT45A4|0.000504008|98.41%,CT45A5|0.000543107|98.22%

CT47B1
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 fpd-aix-mes-312-12 X rs871733
dbSNP Clinvar 		120008979 10417.0 T C PASS 1/1 83 SYNONYMOUS_CODING LOW None 0.67894 0.67890 0.37382 None None None None None None CT47B1|0.000279084|99.49%

CXorf21
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 fpd-aix-mes-312-12 X rs887369
dbSNP Clinvar 		30577846 13449.0 A C PASS 1/1 87 SYNONYMOUS_CODING LOW None 0.89722 0.89720 0.19572 None None None None None None CXorf21|0.11528982|48.25%

CXorf24
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 fpd-aix-mes-312-12 X rs2071778
dbSNP Clinvar 		47343254 12689.0 C T PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.24848 0.24850 0.00 None None None None None None LINC01560|0.001037144|95.23%

CXorf38
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 fpd-aix-mes-312-12 X rs6610447
dbSNP Clinvar 		40506697 2589.0 A G AltDepth 0/1 9 SYNONYMOUS_CODING LOW None 0.97669 0.97670 0.03974 None None None None None None CXorf38|0.065046146|58.62%

CXorf40A
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 fpd-aix-mes-312-12 X rs626560
dbSNP Clinvar 		148627384 10652.0 A G PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.94013 0.94010 1.00 0.00 None None None None None None CXorf40A|0.004189314|86.75%
View fpd-aix-mes-312-12 X rs12116111
dbSNP Clinvar 		148628490 15653.0 A T PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.94252 0.94250 None None None None None None CXorf40A|0.004189314|86.75%

CXorf56
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 fpd-aix-mes-312-12 X rs5910611
dbSNP Clinvar 		118678364 19503.0 G A PASS 1/1 103 SYNONYMOUS_CODING LOW None 0.60583 0.60580 0.42658 None None None None None None CXorf56|0.412595461|20.01%

CXorf58
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 fpd-aix-mes-312-12 X rs2707164
dbSNP Clinvar 		23928489 24348.0 C T PASS 1/1 192 NON_SYNONYMOUS_CODING MODERATE None 0.37007 0.37010 0.46161 0.19 0.55 None None None None None None CXorf58|0.013383355|78.26%

CXorf65
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 fpd-aix-mes-312-12 X rs1130009
dbSNP Clinvar 		70324157 2740.0 C T PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.11179 0.11180 0.22683 None None None None None None CXorf65|0.013213084|78.35%

CXorf66
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 fpd-aix-mes-312-12 X rs5955139
dbSNP Clinvar 		139038443 2918.0 G A PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.32662 0.32660 0.28098 0.84 0.00 None None None None None None CXorf66|0.000287232|99.46%

CYSLTR1
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 fpd-aix-mes-312-12 X rs320995
dbSNP Clinvar 		77528317 21509.0 G A PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.66305 0.66300 0.25994 None None None None None None CYSLTR1|0.093771876|52.42%

DACH2
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 fpd-aix-mes-312-12 X . 85404074 907.0 A G PASS 0/1 128 SYNONYMOUS_CODING LOW None None None None None None None DACH2|0.697778795|8.56%

DKC1
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 fpd-aix-mes-312-12 X rs2728532
dbSNP Clinvar 		153994596 17655.0 G T PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.99258 0.99260 0.00814 None None None None None None DKC1|0.779908958|6.32%

DLG3
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 fpd-aix-mes-312-12 X rs2281868
dbSNP Clinvar 		69668463 7402.0 A G PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.57616 0.57620 0.18 0.00 None None None None None None DLG3|0.532941322|14.46%

DMD
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 fpd-aix-mes-312-12 X rs1800280
dbSNP Clinvar 		31496350 13855.0 C T PASS 0/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.88185 0.88190 0.04318 1.00 0.00 None None None None None None DMD|0.999751041|0.27%
View fpd-aix-mes-312-12 X rs228406
dbSNP Clinvar 		32503194 9442.0 T C PASS 0/1 151 NON_SYNONYMOUS_CODING MODERATE None 0.74834 0.74830 0.34978 0.48 0.00 None None None None None None DMD|0.999751041|0.27%
View fpd-aix-mes-312-12 X rs1801187
dbSNP Clinvar 		32380996 9679.0 C T PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.46517 0.46520 0.33311 0.07 0.74 None None None None None None DMD|0.999751041|0.27%

DNASE1L1
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 fpd-aix-mes-312-12 X rs1130929
dbSNP Clinvar 		153633359 15778.0 G C PASS 1/1 89 SYNONYMOUS_CODING LOW None 0.69722 0.69720 0.31923 None None None None None None RPL10|0.202311641|36.48%,DNASE1L1|0.011941688|79.28%

DRP2
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 fpd-aix-mes-312-12 X . 100486723 1750.0 C T PASS 0/1 87 SYNONYMOUS_CODING LOW None None None None None None None DRP2|0.392002817|21.27%

EBP
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 fpd-aix-mes-312-12 X rs3048
dbSNP Clinvar 		48382174 4611.0 G T PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.00053 0.00053 0.29272 None None None None None None EBP|0.065187638|58.58%

EDA2R
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 fpd-aix-mes-312-12 X rs1385698
dbSNP Clinvar 		65822607 12232.0 T C PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.92901 0.92900 0.08077 0.38 0.00 None None None None None None EDA2R|0.057303601|60.61%
View fpd-aix-mes-312-12 X rs1385699
dbSNP Clinvar 		65824986 8687.0 C T PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.66543 0.66540 0.44012 0.84 0.00 None None None None None None EDA2R|0.057303601|60.61%

EIF2S3
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 fpd-aix-mes-312-12 X rs16997659
dbSNP Clinvar 		24075862 18316.0 A G PASS 0/1 389 NON_SYNONYMOUS_CODING MODERATE None 0.10225 0.10230 0.11578 0.50 0.01 None None None None None None EIF2S3|0.31714361|26.3%
View fpd-aix-mes-312-12 X rs36018672
dbSNP Clinvar 		24073761 18096.0 C T PASS 0/1 192 SYNONYMOUS_CODING LOW None 0.36318 0.36320 0.49986 None None None None None None EIF2S3|0.31714361|26.3%

ELF4
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 fpd-aix-mes-312-12 X rs2181440
dbSNP Clinvar 		129201179 5149.0 C T PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.20450 0.20450 0.19015 None None None None None None ELF4|0.110553761|49.1%

ENOX2
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 fpd-aix-mes-312-12 X rs147547500
dbSNP Clinvar 		129765508 3227.0 C T PASS 1/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.00076 0.14 0.43 None None None None None None ENOX2|0.580447853|12.56%

FAAH2
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 fpd-aix-mes-312-12 X rs1367830
dbSNP Clinvar 		57475132 15241.0 T C PASS 1/1 133 SYNONYMOUS_CODING LOW None 0.47073 0.47070 0.49181 None None None None None None FAAH2|0.005909057|84.68%
View fpd-aix-mes-312-12 X rs4826543
dbSNP Clinvar 		57405163 18404.0 T C PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.91815 0.91810 0.08823 None None None None None None FAAH2|0.005909057|84.68%

FAM104B
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 fpd-aix-mes-312-12 X rs111573608
dbSNP Clinvar 		55172572 17291.0 G A VQSRTrancheSNP99.90to100.00 0/1 627 None None None 1.00 0.00 None None None None None None FAM104B|0.001440975|93.08%
View fpd-aix-mes-312-12 X rs1047034
dbSNP Clinvar 		55172708 76498.0 T G VQSRTrancheSNP99.90to100.00 0/1 375 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.03 None None None None None None FAM104B|0.001440975|93.08%
View fpd-aix-mes-312-12 X rs1047037
dbSNP Clinvar 		55172687 44012.0 T C SnpCluster 0/1 300 NON_SYNONYMOUS_CODING MODERATE None 0.18 0.00 None None None None None None FAM104B|0.001440975|93.08%
View fpd-aix-mes-312-12 X rs111638770
dbSNP Clinvar 		55172680 13437.0 G C SnpCluster 0/1 307 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None FAM104B|0.001440975|93.08%
View fpd-aix-mes-312-12 X rs1047042
dbSNP Clinvar 		55172645 77588.0 C T PASS 0/1 372 NON_SYNONYMOUS_CODING MODERATE None 0.00132 0.00133 0.84 0.00 None None None None None None FAM104B|0.001440975|93.08%
View fpd-aix-mes-312-12 X rs113263757
dbSNP Clinvar 		55172630 27223.0 G A PASS 0/1 446 STOP_GAINED HIGH None None None None None None None FAM104B|0.001440975|93.08%
View fpd-aix-mes-312-12 X rs113745415
dbSNP Clinvar 		55172606 23595.0 G A PASS 0/1 549 None None None 0.00 0.01 None None None None None None FAM104B|0.001440975|93.08%
View fpd-aix-mes-312-12 X rs1047054
dbSNP Clinvar 		55172537 123724.0 G A PASS 0/1 656 None None None None None None None None None FAM104B|0.001440975|93.08%

FAM120C
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 fpd-aix-mes-312-12 X rs2495783
dbSNP Clinvar 		54209387 2079.0 A G PASS 1/1 10 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None FAM120C|0.175300288|39.59%

FAM127B
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 fpd-aix-mes-312-12 X rs2498776
dbSNP Clinvar 		134185997 34473.0 T A PASS 1/1 212 NON_SYNONYMOUS_CODING MODERATE None 0.00026 0.72080 0.20301 0.01 0.05 None None None None None None FAM127B|0.010606007|80.43%

FAM155B
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 fpd-aix-mes-312-12 X rs1171942
dbSNP Clinvar 		68725640 5548.0 T C PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.64318 0.64320 0.48702 0.30 0.00 None None None None None None FAM155B|0.652325515|10.02%

FAM46D
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 fpd-aix-mes-312-12 X rs1113265
dbSNP Clinvar 		79698593 24776.0 C G PASS 0/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.37245 0.37250 0.40570 1.00 0.00 None None None None None None FAM46D|0.04862911|63.07%

FANCB
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 fpd-aix-mes-312-12 X rs41309679
dbSNP Clinvar 		14877404 2189.0 C T PASS 0/1 275 NON_SYNONYMOUS_CODING MODERATE None 0.03656 0.03656 0.05900 0.00 1.00 None None None None None None FANCB|0.07080547|57.28%

FATE1
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 fpd-aix-mes-312-12 X rs3810715
dbSNP Clinvar 		150884620 5058.0 C T PASS 1/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.11788 0.11790 0.08740 0.00 0.16 None None None None None None FATE1|0.000967268|95.68%

FGF13
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 fpd-aix-mes-312-12 X rs34825181
dbSNP Clinvar 		138067202 15953.0 A G PASS 1/1 98 None None None 0.68291 0.68290 0.26079 None None None None None None FGF13|0.912569109|3.18%

FMR1
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 fpd-aix-mes-312-12 X rs25707
dbSNP Clinvar 		147010320 11277.0 G A PASS 1/1 220 SYNONYMOUS_CODING LOW None 0.09960 0.09960 0.11163 None None None None None None FMR1|0.940937361|2.45%

FOXR2
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 fpd-aix-mes-312-12 X rs2375465
dbSNP Clinvar 		55651001 4034.0 T C PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.81166 0.81170 0.19862 1.00 0.00 None None None None None None FOXR2|0.00232069|90.12%

GABRE
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 fpd-aix-mes-312-12 X rs1139916
dbSNP Clinvar 		151138179 20893.0 A C PASS 0/1 180 NON_SYNONYMOUS_CODING MODERATE None 0.70649 0.70650 0.38995 0.15 0.42 None None None None None None GABRE|0.027020862|70.86%