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+ Genes 80

+ Genes associated with diseases 51

Genes at Omim

AFF2, AIFM1, AMELX, AR, ARSE, ATP2B3, ATP7A, ATRX, BCOR, BGN, BRWD3, CNKSR2, COL4A6, CSF2RA, CUL4B, DKC1, DMD, EBP, EIF2S3, F9, FAM58A, FOXP3, G6PD, GDI1, GRIA3, HCFC1, HUWE1, IGSF1, KAL1, KDM6A, LAMP2, MAMLD1, MAOA, MBTPS2, MECP2, MED12, NR0B1, NSDHL, PDHA1, POU3F4, PTCHD1, RBM10, RPL10, SHOX, SHROOM4, SLC16A2, SYN1, TFE3, XG, XIAP, ZIC3,
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)
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)
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)
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)
CNKSR2 Mental retardation, X-linked, syndromic, Houge type, 301008 (3)
COL4A6 ?Deafness, X-linked 6, 300914 (3)
CSF2RA Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3)
CUL4B Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (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)
FOXP3 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)
{Diabetes mellitus, type I, susceptibility to}, 222100 (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)
HCFC1 Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (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)
KDM6A Kabuki syndrome 2, 300867 (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)
MECP2 Encephalopathy, neonatal severe, 300673 (3)
Mental retardation, X-linked syndromic, Lubs type, 300260 (3)
Mental retardation, X-linked, syndromic 13, 300055 (3)
Rett syndrome, 312750 (3)
Rett syndrome, atypical, 312750 (3)
Rett syndrome, preserved speech variant, 312750 (3)
{Autism susceptibility, X-linked 3}, 300496 (3)
MED12 Lujan-Fryns syndrome, 309520 (3)
Ohdo syndrome, X-linked, 300895 (3)
Opitz-Kaveggia syndrome, 305450 (3)
NR0B1 Adrenal hypoplasia, congenital, 300200 (3)
46XY sex reversal 2, dosage-sensitive, 300018 (3)
NSDHL CK syndrome, 300831 (3)
CHILD syndrome, 308050 (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)
RBM10 TARP syndrome, 311900 (3)
RPL10 Mental retardation, X-linked, syndromic, 35, 300998 (3)
{Autism, susceptibility to, X-linked 5}, 300847 (3)
SHOX Leri-Weill dyschondrosteosis, 127300 (3)
Langer mesomelic dysplasia, 249700 (3)
Short stature, idiopathic familial, 300582 (3)
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
SLC16A2 Allan-Herndon-Dudley syndrome, 300523 (3)
SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
TFE3 Renal cell carcinoma, papillary, 1, 300854 (3)
XG [Blood group, XG system] (3)
XIAP Lymphoproliferative syndrome, X-linked, 2, 300635 (3)
ZIC3 Heterotaxy, visceral, 1, X-linked 306955 (3)
Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3)
VACTERL association, X-linked, 314390 (3)

Genes at Clinical Genomics Database

AFF2, AIFM1, AMELX, AR, ARSE, ATP2B3, ATP7A, ATRX, BCOR, BRWD3, COL4A6, CSF2RA, CUL4B, DKC1, DMD, EBP, F9, FAM58A, FOXP3, G6PD, GDI1, GRIA3, HCFC1, HUWE1, IGSF1, KDM6A, LAMP2, MAMLD1, MAOA, MBTPS2, MECP2, MED12, NR0B1, NSDHL, PDHA1, POF1B, POU3F4, PTCHD1, RBM10, SHOX, SHROOM4, SLC16A2, SYN1, XG, XIAP, ZIC3, ZNF81,
AFF2 Premature ovarian failure
AIFM1 Deafness, X-linked 5
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
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
COL4A6 Deafness, X-linked, with cochlear malformation
CSF2RA Surfactant metabolism dysfunction, pulmonary, 4
CUL4B Mental retardation, X-linked, syndromic 15 (Cabezas type)
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
FOXP3 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX)
G6PD Glucose-6-phosphate dehydrogenase deficiency
GDI1 Mental retardation, X-linked 41
GRIA3 Mental retardation, X-linked 94
HCFC1 Combined methylmalonic acidemia and hyperhomocysteinemia
HUWE1 Mental retardation, X-linked syndromic, Turner type
IGSF1 Central hypothyroidism and testicular enlargement
KDM6A Kabuki syndrome 2
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
MECP2 Rett syndrome
Encephalopathy, neonatal severe, due to MECP2 mutations
Autism, X-linked 3
Mental retardation, X-lnked syndromic 13
Angelman-like syndrome
Mental retardation, X-linked 79
MED12 Lujan-Fryns syndrome
Opitz-Kaveggia syndrome
Mental retardation, X-linked, with Marfanoid habitus
FG syndrome
Ohdo syndrome
NR0B1 Adrenal hypoplasia, congenital
46,XY sex reversal 2
NSDHL Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
CK syndrome
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
RBM10 TARP syndrome
SHOX Langer mesomelic dysplasia
Leri-Weill dyschondrosteosis
Short stature, idiopathic familial
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome
SLC16A2 Allan-Herndon-Dudley syndrome
SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders
XG XG blood group
XIAP Lymphoproliferative syndrome, X-linked, 2
ZIC3 Congenital heart defects, nonsyndromic, 1, X-linked
Heterotaxy, visceral, 1, X-linked
VACTERL association, X-linked, with or without hydrocephalus
ZNF81 Mental retardation, X-linked 45

Genes at HGMD

Summary

Number of Variants: 736
Number of Genes: 80

Export to: CSV

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 il-full_variant_table X rs241084
dbSNP Clinvar 		147800748 382.0 A G PASS 0/1 56 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 il-full_variant_table X rs1139851
dbSNP Clinvar 		129283520 717.0 A G PASS 0/1 88 SYNONYMOUS_CODING LOW SILENT 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View il-full_variant_table X rs2106416
dbSNP Clinvar 		11316742 1624.0 C T PASS 0/1 166 SYNONYMOUS_CODING LOW SILENT 0.16477 0.16480 0.24510 None None None None None None ARHGAP6|0.321783914|26.02%,AMELX|0.618887456|11.12%

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 il-full_variant_table X rs778920072
dbSNP Clinvar 		66765158 130.0 TGCA T low_variant_fraction 0/1 184 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None AR|0.999436019|0.35%
View il-full_variant_table X rs772149730
dbSNP Clinvar 		66765158 1050.0 TG... T PASS 0/1 184 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None AR|0.999436019|0.35%

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 il-full_variant_table X rs1009758
dbSNP Clinvar 		11157535 2169.0 G C PASS 0/1 200 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15656 0.15660 0.20941 0.37 0.00 None None None None None None ARHGAP6|0.321783914|26.02%
View il-full_variant_table X . 11682842 2482.0 C T PASS 0/1 233 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.02 None None None None None None ARHGAP6|0.321783914|26.02%

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 il-full_variant_table X rs11222
dbSNP Clinvar 		2852951 10000.0 G A PASS 0/1 362 SYNONYMOUS_CODING LOW SILENT 0.56583 0.56580 0.45809 None None None None None None ARSE|0.002669381|89.33%
View il-full_variant_table X rs35143646
dbSNP Clinvar 		2856155 2302.0 C T PASS 0/1 239 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57457 0.57460 0.49223 0.18 0.49 None None None None None None ARSE|0.002669381|89.33%
View il-full_variant_table X rs17325750
dbSNP Clinvar 		2867413 2590.0 C T PASS 0/1 216 SYNONYMOUS_CODING LOW SILENT 0.03974 0.03974 0.05595 None None None None None None ARSE|0.002669381|89.33%

ASMT
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 il-full_variant_table X rs191250233
dbSNP Clinvar 		1752084 2372.0 C T PASS 0/1 243 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.01 0.99 None None None None None None ASMT|0.002201059|90.42%

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 il-full_variant_table X rs3020949
dbSNP Clinvar 		152815089 10000.0 A G PASS 1/1 283 SYNONYMOUS_CODING LOW SILENT 0.98543 0.98540 0.01051 None None None None None None ATP2B3|0.203946244|36.25%
View il-full_variant_table X rs2269415
dbSNP Clinvar 		152823728 2267.0 G C PASS 0/1 180 SYNONYMOUS_CODING LOW SILENT 0.47391 0.47390 0.38938 None None None None None None ATP2B3|0.203946244|36.25%

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 il-full_variant_table X rs2227291
dbSNP Clinvar 		77268502 10000.0 G C PASS 1/1 188 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29934 0.29930 0.25554 0.04 0.96 None None None None None None ATP7A|0.267298986|30.07%
View il-full_variant_table X rs4826245
dbSNP Clinvar 		77298857 2233.0 G A PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 il-full_variant_table X rs3088074
dbSNP Clinvar 		76937963 10000.0 G C PASS 1/1 214 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.55232 0.55230 0.49167 0.00 None None None None None None ATRX|0.768191445|6.65%

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 il-full_variant_table X rs4830842
dbSNP Clinvar 		13337059 1212.0 C T PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 il-full_variant_table X rs5917933
dbSNP Clinvar 		39933339 10000.0 A G PASS 1/1 199 SYNONYMOUS_CODING LOW SILENT 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 il-full_variant_table X rs4830173
dbSNP Clinvar 		129147079 10000.0 T C PASS 1/1 247 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 il-full_variant_table X rs1126499
dbSNP Clinvar 		152771509 2424.0 C T PASS 0/1 182 SYNONYMOUS_CODING LOW SILENT 0.33536 0.33540 0.35624 None None None None None None BGN|0.555214937|13.51%
View il-full_variant_table X rs4833
dbSNP Clinvar 		152770230 2472.0 G A PASS 0/1 242 SYNONYMOUS_CODING LOW SILENT 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 il-full_variant_table X rs3122407
dbSNP Clinvar 		79943569 628.0 T C PASS 1/1 21 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.98967 0.98970 0.00975 1.00 0.00 None None None None None None BRWD3|0.286279937|28.63%

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 il-full_variant_table X rs778488952
dbSNP Clinvar 		21627677 123.0 AGAG A low_variant_fraction 0/1 107 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 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 il-full_variant_table X rs1266719
dbSNP Clinvar 		107437848 341.0 G C off_target 0/1 41 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 il-full_variant_table X rs1042065
dbSNP Clinvar 		107433688 667.0 A G PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57325 0.57320 0.25741 1.00 0.00 None None None None None None COL4A6|0.130757642|45.78%
View il-full_variant_table X rs5973851
dbSNP Clinvar 		107417730 778.0 G A PASS 0/1 98 SYNONYMOUS_CODING LOW SILENT 0.40609 0.40610 0.23260 None None None None None None COL4A6|0.130757642|45.78%
View il-full_variant_table X rs4623610
dbSNP Clinvar 		107418906 1759.0 A G PASS 1/1 59 SYNONYMOUS_CODING LOW SILENT 0.98384 0.98380 0.01695 None None None None None None COL4A6|0.130757642|45.78%

CSF2RA
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 il-full_variant_table X rs28460440
dbSNP Clinvar 		1422868 10000.0 G A PASS 1/1 177 SYNONYMOUS_CODING LOW SILENT 0.32628 0.32630 0.37983 None None None None None None CSF2RA|0.001975868|91.07%

CUL4B
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 il-full_variant_table X rs766883719,rs776907411
dbSNP Clinvar 		119694116 158.0 TGAG T low_variant_fraction 0/1 222 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.00882 None None None None None None CUL4B|0.706839918|8.31%

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 il-full_variant_table X rs782576893,rs878854453
dbSNP Clinvar 		154005088 353.0 CAAG C low_variant_fraction 0/1 404 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None DKC1|0.779908958|6.32%
View il-full_variant_table X rs2728532
dbSNP Clinvar 		153994596 2914.0 G T PASS 1/1 98 SYNONYMOUS_CODING LOW SILENT 0.99258 0.99260 0.00814 None None None None None None DKC1|0.779908958|6.32%

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 il-full_variant_table X rs1801187
dbSNP Clinvar 		32380996 1874.0 C T PASS 0/1 158 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46517 0.46520 0.33311 0.07 0.74 None None None None None None DMD|0.999751041|0.27%
View il-full_variant_table X rs228406
dbSNP Clinvar 		32503194 1257.0 T C PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.74834 0.74830 0.34978 0.48 0.00 None None None None None None DMD|0.999751041|0.27%
View il-full_variant_table X rs1800280
dbSNP Clinvar 		31496350 10000.0 C T PASS 1/1 181 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88185 0.88190 0.04318 1.00 0.00 None None None None None None DMD|0.999751041|0.27%

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 il-full_variant_table X rs3048
dbSNP Clinvar 		48382174 1631.0 G T PASS 1/1 58 SYNONYMOUS_CODING LOW SILENT 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 il-full_variant_table X rs1385698
dbSNP Clinvar 		65822607 10000.0 T C PASS 1/1 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92901 0.92900 0.08077 0.38 0.00 None None None None None None EDA2R|0.057303601|60.61%
View il-full_variant_table X rs1385699
dbSNP Clinvar 		65824986 10000.0 C T PASS 1/1 163 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 il-full_variant_table X rs16997659
dbSNP Clinvar 		24075862 1099.0 A G PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10225 0.10230 0.11578 0.50 0.01 None None None None None None EIF2S3|0.31714361|26.3%

F9
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 il-full_variant_table X rs6048
dbSNP Clinvar 		138633280 1329.0 A G PASS 0/1 128 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14570 0.14570 0.23488 0.48 0.00 None None None None None None F9|0.170306612|40.27%

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 il-full_variant_table X rs4826543
dbSNP Clinvar 		57405163 10000.0 T C PASS 1/1 118 SYNONYMOUS_CODING LOW SILENT 0.91815 0.91810 0.08823 None None None None None None FAAH2|0.005909057|84.68%
View il-full_variant_table X rs1367830
dbSNP Clinvar 		57475132 3169.0 T C PASS 1/1 110 SYNONYMOUS_CODING LOW SILENT 0.47073 0.47070 0.49181 None None None None None None FAAH2|0.005909057|84.68%

FAM58A
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 il-full_variant_table X . 152864513 10000.0 GCC GCCC PASS 1/1 332 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None FAM58A|0.05294971|61.79%
View il-full_variant_table X . 152864477 10000.0 GCCC GCCCC PASS 1/1 322 FRAME_SHIFT HIGH None None None None None None FAM58A|0.05294971|61.79%

FOXP3
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 il-full_variant_table X rs2232367
dbSNP Clinvar 		49113312 1424.0 G A PASS 0/1 160 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.01483 0.01483 0.02973 None None None None None None FOXP3|0.61779401|11.16%

G6PD
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 il-full_variant_table X rs2230037
dbSNP Clinvar 		153760654 2165.0 G A PASS 0/1 171 SYNONYMOUS_CODING LOW SILENT 0.21589 0.21590 0.16671 None None None None None None G6PD|0.540907|14.16%

GDI1
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 il-full_variant_table X rs4834
dbSNP Clinvar 		153667176 1232.0 T C PASS 0/1 110 SYNONYMOUS_CODING LOW SILENT 0.29086 0.29090 0.30976 None None None None None None GDI1|0.264243897|30.35%

GPC4
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 il-full_variant_table X rs1129980
dbSNP Clinvar 		132438872 1485.0 C A PASS 0/1 146 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45881 0.45880 0.40472 0.33 0.12 None None None None None None GPC4|0.466713815|17.33%
View il-full_variant_table X rs1048369
dbSNP Clinvar 		132437337 1376.0 G A PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45828 0.45830 0.40481 0.07 0.41 None None None None None None GPC4|0.466713815|17.33%

GRIA3
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 il-full_variant_table X rs502434
dbSNP Clinvar 		122537277 10000.0 T C PASS 1/1 118 SYNONYMOUS_CODING LOW SILENT 0.52901 0.52900 0.45451 None None None None None None GRIA3|0.935818586|2.64%
View il-full_variant_table X . 122336600 3154.0 TGGG TGGGG PASS 1/1 203 None None None None None None None None None GRIA3|0.935818586|2.64%

GRPR
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 il-full_variant_table X rs4986945
dbSNP Clinvar 		16168467 1926.0 T C PASS 0/1 167 SYNONYMOUS_CODING LOW SILENT 0.27497 0.27500 0.34110 None None None None None None GRPR|0.391292698|21.32%
View il-full_variant_table X rs4986946
dbSNP Clinvar 		16168677 1887.0 T C PASS 0/1 173 SYNONYMOUS_CODING LOW SILENT 0.38967 0.38970 0.46209 None None None None None None GRPR|0.391292698|21.32%

GUCY2F
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 il-full_variant_table X rs502209
dbSNP Clinvar 		108708516 10000.0 C T PASS 1/1 123 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94861 0.94860 0.11607 0.62 0.00 None None None None None None GUCY2F|0.157201193|42.01%
View il-full_variant_table X rs12008095
dbSNP Clinvar 		108708552 1498.0 A G PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16185 0.16190 0.25968 0.00 0.84 None None None None None None GUCY2F|0.157201193|42.01%

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 il-full_variant_table X rs2306734
dbSNP Clinvar 		2777985 10000.0 C T PASS 1/1 218 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57828 0.57830 0.39229 0.37 0.02 None None None None None None GYG2|0.001763876|91.62%
View il-full_variant_table X rs2306735
dbSNP Clinvar 		2779570 10000.0 A G PASS 1/1 121 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57536 0.57540 0.40820 0.62 0.00 None None None None None None GYG2|0.001763876|91.62%

HCFC1
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 il-full_variant_table X rs730106
dbSNP Clinvar 		153221657 2120.0 T C PASS 0/1 228 SYNONYMOUS_CODING LOW SILENT 0.58517 0.58520 0.36361 None None None None None None HCFC1|0.161458383|41.35%
View il-full_variant_table X rs1051152
dbSNP Clinvar 		153220360 2416.0 A G PASS 0/1 202 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58596 0.58600 0.34239 1.00 0.00 None None None None None None HCFC1|0.161458383|41.35%
View il-full_variant_table X rs2071133
dbSNP Clinvar 		153219665 2266.0 C T PASS 0/1 190 SYNONYMOUS_CODING LOW SILENT 0.40318 0.40320 0.15127 None None None None None None HCFC1|0.161458383|41.35%
View il-full_variant_table X rs2071134
dbSNP Clinvar 		153222835 1770.0 G C PASS 0/1 168 SYNONYMOUS_CODING LOW SILENT 0.38411 0.38410 0.11584 None None None None None None HCFC1|0.161458383|41.35%
View il-full_variant_table X rs3027875
dbSNP Clinvar 		153215839 1716.0 G A PASS 0/1 190 SYNONYMOUS_CODING LOW SILENT 0.19126 0.19130 0.43930 None None None None None None HCFC1|0.161458383|41.35%
View il-full_variant_table X rs3027878
dbSNP Clinvar 		153218365 2148.0 C A PASS 0/1 201 SYNONYMOUS_CODING LOW SILENT 0.38384 0.38380 0.11924 None None None None None None HCFC1|0.161458383|41.35%

HDX
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 il-full_variant_table X rs5922966
dbSNP Clinvar 		83591866 233.0 C T PASS 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.06331 0.06331 0.14198 None None None None None None HDX|0.278129485|29.25%

HEPH
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 il-full_variant_table X rs5919015
dbSNP Clinvar 		65382685 1657.0 T C PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92080 0.92080 0.21750 1.00 0.00 None None None None None None HEPH|0.080329009|55.09%

HUWE1
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 il-full_variant_table X rs426298
dbSNP Clinvar 		53563589 1992.0 A G PASS 1/1 69 SYNONYMOUS_CODING LOW SILENT 0.99497 0.99500 0.00805 None None None None None None HUWE1|0.636259624|10.58%
View il-full_variant_table X rs6638360
dbSNP Clinvar 		53641647 2567.0 T C PASS 1/1 89 SYNONYMOUS_CODING LOW SILENT 0.38967 0.38970 0.37792 None None None None None None HUWE1|0.636259624|10.58%

IGSF1
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 il-full_variant_table X rs5930458
dbSNP Clinvar 		130420006 2884.0 T C PASS 1/1 97 SYNONYMOUS_CODING LOW SILENT 0.94464 0.94460 0.06324 None None None None None None IGSF1|0.217194784|34.71%
View il-full_variant_table X rs6529473
dbSNP Clinvar 		130408745 1820.0 G A PASS 0/1 199 SYNONYMOUS_CODING LOW SILENT 0.46596 0.46600 0.26886 None None None None None None IGSF1|0.217194784|34.71%
View il-full_variant_table X rs1128617
dbSNP Clinvar 		130415818 10000.0 T C PASS 1/1 150 SYNONYMOUS_CODING LOW SILENT 0.50278 0.50280 0.47979 None None None None None None IGSF1|0.217194784|34.71%
View il-full_variant_table X rs5932877
dbSNP Clinvar 		130416958 1283.0 C T PASS 1/1 43 SYNONYMOUS_CODING LOW SILENT 0.90623 0.90620 0.11181 None None None None None None IGSF1|0.217194784|34.71%
View il-full_variant_table X rs4830219
dbSNP Clinvar 		130410965 1469.0 A G PASS 0/1 141 SYNONYMOUS_CODING LOW SILENT 0.24371 0.24370 0.37972 None None None None None None IGSF1|0.217194784|34.71%
View il-full_variant_table X rs4495600
dbSNP Clinvar 		130420415 1283.0 T C PASS 1/1 43 SYNONYMOUS_CODING LOW SILENT 0.97351 0.97350 0.02850 None None None None None None IGSF1|0.217194784|34.71%

IL9R
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 il-full_variant_table X rs754099000
dbSNP Clinvar 		155239798 131.0 GAGC G low_variant_fraction 0/1 387 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.07189 0.07188 None None None None None None IL9R|0.003289279|88.09%
View il-full_variant_table X rs147385831
dbSNP Clinvar 		155239602 360.0 G A low_variant_fraction 0/1 221 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56 0.00 None None None None None None IL9R|0.003289279|88.09%
View il-full_variant_table X rs200413398
dbSNP Clinvar 		155239824 10000.0 A G PASS 0/1 380 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14197 0.14200 0.06 0.00 None None None None None None IL9R|0.003289279|88.09%
View il-full_variant_table X rs150178903
dbSNP Clinvar 		155239827 10000.0 A G PASS 0/1 379 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10443 0.10440 1.00 0.00 None None None None None None IL9R|0.003289279|88.09%

IRS4
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 il-full_variant_table X rs2073114
dbSNP Clinvar 		107979512 2894.0 C T PASS 0/1 227 SYNONYMOUS_CODING LOW SILENT 0.54252 0.54250 0.36715 None None None None None None IRS4|0.092969045|52.62%
View il-full_variant_table X rs1801164
dbSNP Clinvar 		107976940 1365.0 G C PASS 0/1 162 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53589 0.53590 0.35643 1.00 0.00 None None None None None None IRS4|0.092969045|52.62%
View il-full_variant_table X rs2073115
dbSNP Clinvar 		107979515 2914.0 C T PASS 0/1 221 SYNONYMOUS_CODING LOW SILENT 0.42649 0.42650 0.25279 None None None None None None IRS4|0.092969045|52.62%

KAL1
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 il-full_variant_table X rs808119
dbSNP Clinvar 		8504833 10000.0 C T PASS 1/1 142 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48821 0.48820 0.43643 1.00 0.00 None None None None None None ANOS1|0.057660159|60.51%

KCNE1L
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 il-full_variant_table X rs17003955
dbSNP Clinvar 		108868153 2260.0 G A PASS 0/1 206 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05192 0.05192 0.09681 0.58 0.00 None None None None None None KCNE5|0.041771536|65.19%,ACSL4|0.504424276|15.6%

KDM6A
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 il-full_variant_table X rs2230018
dbSNP Clinvar 		44929077 10000.0 C A PASS 1/1 191 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15550 0.15550 0.09278 0.08 0.05 None None None None None None KDM6A|0.845633626|4.72%

LAMP2
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 il-full_variant_table X rs12097
dbSNP Clinvar 		119590533 10000.0 T A PASS 1/1 118 SYNONYMOUS_CODING LOW SILENT 0.38093 0.38090 0.39856 None None None None None None LAMP2|0.08295171|54.6%
View il-full_variant_table X rs73219144
dbSNP Clinvar 		119576455 627.0 G A PASS 0/1 53 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.01325 0.01325 0.02869 None None None None None None LAMP2|0.08295171|54.6%

MAMLD1
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 il-full_variant_table X rs2070779
dbSNP Clinvar 		149680554 10000.0 C T PASS 1/1 187 SYNONYMOUS_CODING LOW SILENT 0.63232 0.63230 None None None None None None MAMLD1|0.025037852|71.77%
View il-full_variant_table X rs186833799
dbSNP Clinvar 		149680832 10000.0 C T PASS 0/1 315 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01457 0.01457 0.55 0.00 None None None None None None MAMLD1|0.025037852|71.77%
View il-full_variant_table X rs782166574
dbSNP Clinvar 		149639324 307.0 ACAG A low_variant_fraction 0/1 368 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None MAMLD1|0.025037852|71.77%

MAOA
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 il-full_variant_table X rs6323
dbSNP Clinvar 		43591036 10000.0 G T PASS 1/1 156 SYNONYMOUS_CODING LOW SILENT 0.62490 0.62490 0.24150 None None None None None None MAOA|0.148857367|43.16%
View il-full_variant_table X rs1137070
dbSNP Clinvar 		43603391 1128.0 T C PASS 1/1 39 SYNONYMOUS_CODING LOW SILENT 0.55179 0.55180 0.32680 None None None None None None MAOA|0.148857367|43.16%

MAP3K15
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 il-full_variant_table X rs5909299
dbSNP Clinvar 		19482476 1557.0 C T PASS 0/1 139 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67947 0.67950 0.32209 0.02 0.36 None None None None None None MAP3K15|0.054956774|61.21%

MBTPS2
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 il-full_variant_table X rs3213451
dbSNP Clinvar 		21861434 1140.0 A G PASS 0/1 122 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.45775 0.45770 0.41731 None None None None None None MBTPS2|0.462378865|17.54%

MECP2
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 il-full_variant_table X rs782643925
dbSNP Clinvar 		153363099 124.0 CGCG C low_variant_fraction 0/1 455 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.10547 None None None None None None MECP2|0.982603095|1.39%

MED12
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 il-full_variant_table X rs5030619
dbSNP Clinvar 		70349947 10000.0 A C PASS 1/1 147 SYNONYMOUS_CODING LOW SILENT 0.11099 0.11100 0.22591 None None None None None None MED12|0.779576048|6.34%
View il-full_variant_table X rs757160341,rs1060504498
dbSNP Clinvar 		70360647 312.0 ACAG A low_variant_fraction 0/1 282 CODON_DELETION MODERATE 0.03492 None None None None None None MED12|0.779576048|6.34%
View il-full_variant_table X . 70360679 319.0 GGCA G low_variant_fraction 0/1 323 CODON_DELETION MODERATE None None None None None None MED12|0.779576048|6.34%
View il-full_variant_table X rs766775649
dbSNP Clinvar 		70361097 301.0 ACAG A low_variant_fraction 0/1 317 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.03571 None None None None None None MED12|0.779576048|6.34%

NR0B1
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 il-full_variant_table X rs6150
dbSNP Clinvar 		30327367 3025.0 G A PASS 0/1 294 SYNONYMOUS_CODING LOW SILENT 0.09563 0.09563 0.14246 None None None None None None NR0B1|0.508741554|15.44%

NSDHL
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 il-full_variant_table X rs5969919
dbSNP Clinvar 		152018832 10000.0 T G PASS 1/1 156 SYNONYMOUS_CODING LOW SILENT 0.86146 0.86150 0.17931 None None None None None None NSDHL|0.042707237|64.89%

PDHA1
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 il-full_variant_table X rs1126565
dbSNP Clinvar 		19373839 386.0 A G PASS 0/1 87 SYNONYMOUS_CODING LOW SILENT 0.30464 0.30460 0.32462 None None None None None None PDHA1|0.214623621|35.05%
View il-full_variant_table X rs7883320
dbSNP Clinvar 		19364644 1051.0 C T PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24795 0.24790 0.31 0.00 None None None None None None PDHA1|0.214623621|35.05%