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+ Genes 177

+ Genes associated with diseases 45

Genes at Omim

ACAN, ADAMTS17, AGBL1, ALPK3, BUB1B, C15orf41, CDAN1, CHD2, CHSY1, CIB2, CILP, CYP19A1, DLL4, EIF2AK4, FAH, FAN1, FBN1, GATM, HERC1, HERC2, IGF1R, KIF7, LIPC, LOXL1, MAPKBP1, MEF2A, MESP2, MYO5A, NDUFAF1, NIPA1, OCA2, PLCB2, RORA, SLC12A1, SLC12A6, SPG11, SPRED1, TPM1, TRIP4, TRPM1, TTBK2, UBR1, USP8, VPS13C, WDR73,
ACAN ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3)
Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
ADAMTS17 Weill-Marchesani 4 syndrome, recessive, 613195 (3)
AGBL1 Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
ALPK3 Cardiomyopathy, familial hypertrophic 27, 618052 (3)
BUB1B Colorectal cancer, somatic, 114500 (3)
Mosaic variegated aneuploidy syndrome 1, 257300 (3)
[Premature chromatid separation trait], 176430 (3)
C15orf41 Dyserythropoietic anemia, congenital, type Ib, 615631 (3)
CDAN1 Dyserythropoietic anemia, congenital, type Ia, 224120 (3)
CHD2 Epileptic encephalopathy, childhood-onset, 615369 (3)
CHSY1 Temtamy preaxial brachydactyly syndrome, 605282 (3)
CIB2 Deafness, autosomal recessive 48, 609439 (3)
Usher syndrome, type IJ, 614869 (3)
CILP {Lumbar disc disease, susceptibility to}, 603932 (3)
CYP19A1 Aromatase deficiency, 613546 (3)
Aromatase excess syndrome, 139300 (3)
DLL4 Adams-Oliver syndrome 6, 616589 (3)
EIF2AK4 Pulmonary venoocclusive disease 2, 234810 (3)
FAH Tyrosinemia, type I, 276700 (3)
FAN1 Interstitial nephritis, karyomegalic, 614817 (3)
FBN1 Geleophysic dysplasia 2, 614185 (3)
Ectopia lentis, familial, 129600 (3)
MASS syndrome, 604308 (3)
Marfan lipodystrophy syndrome, 616914 (3)
Marfan syndrome, 154700 (3)
Acromicric dysplasia, 102370 (3)
Stiff skin syndrome, 184900 (3)
Weill-Marchesani syndrome 2, dominant, 608328 (3)
GATM Cerebral creatine deficiency syndrome 3, 612718 (3)
HERC1 Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3)
HERC2 Mental retardation, autosomal recessive 38, 615516 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
IGF1R Insulin-like growth factor I, resistance to, 270450 (3)
KIF7 Acrocallosal syndrome, 200990 (3)
Joubert syndrome 12, 200990 (3)
?Hydrolethalus syndrome 2, 614120 (3)
?Al-Gazali-Bakalinova syndrome, 607131 (3)
LIPC Hepatic lipase deficiency, 614025 (3)
[High density lipoprotein cholesterol level QTL 12], 612797 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
LOXL1 {Exfoliation syndrome, susceptibility to}, 177650 (3)
MAPKBP1 Nephronophthisis 20, 617271 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MESP2 Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MYO5A Griscelli syndrome, type 1, 214450 (3)
NDUFAF1 Mitochondrial complex I deficiency, nuclear type 11, 618234 (3)
NIPA1 Spastic paraplegia 6, autosomal dominant, 600363 (3)
OCA2 Albinism, brown oculocutaneous, 203200 (3)
Albinism, oculocutaneous, type II, 203200 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
PLCB2 Platelet PLC beta-2 deficiency (1)
RORA Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 (3)
SLC12A1 Bartter syndrome, type 1, 601678 (3)
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
SPG11 Amyotrophic lateral sclerosis 5, juvenile, 602099 (3)
Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3)
Spastic paraplegia 11, autosomal recessive, 604360 (3)
SPRED1 Legius syndrome, 611431 (3)
TPM1 Cardiomyopathy, dilated, 1Y, 611878 (3)
Cardiomyopathy, hypertrophic, 3, 115196 (3)
Left ventricular noncompaction 9, 611878 (3)
TRIP4 ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066 (3)
Spinal muscular atrophy with congenital bone fractures 1, 616866 (3)
TRPM1 Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)
TTBK2 Spinocerebellar ataxia 11, 604432 (3)
UBR1 Johanson-Blizzard syndrome, 243800 (3)
USP8 Pituitary adenoma 4, ACTH-secreting, somatic, 219090 (3)
VPS13C Parkinson disease 23, autosomal recessive, early onset, 616840 (3)
WDR73 Galloway-Mowat syndrome 1, 251300 (3)

Genes at Clinical Genomics Database

ACAN, ADAMTS17, AGBL1, BLM, BUB1B, CDAN1, CHD2, CHSY1, CIB2, CYP19A1, CYP1A2, DLL4, EIF2AK4, FAH, FAN1, FBN1, GATM, HERC2, IGF1R, KIF7, LIPC, MESP2, MYO5A, NDUFAF1, NIPA1, OCA2, SLC12A1, SLC12A6, SPG11, SPRED1, TPM1, TRIP4, TRPM1, TTBK2, UBR1, VPS13C, VPS39, WDR73, ZNF592,
ACAN Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepiphyseal dysplasia, Kimberley type
Osteochondritis dissecans, short stature, and early-onset osteoarthritis
ADAMTS17 Weill-Marchesani-like syndrome
AGBL1 Corneal dystrophy, Fuchs endothelial, 8
BLM Bloom syndrome
BUB1B Mosaic variegated aneuploidy syndrome
Premature chromatid separation trait
CDAN1 Anemia, dyserythropoietic congenital, type Ia
CHD2 Epileptic encephalopathy, childhood-onset
CHSY1 Temtamy preaxial brachydactyly syndrome
CIB2 Deafness, autosomal recessive 48
Usher syndrome type IJ
CYP19A1 Aromatase deficiency
CYP1A2 CYP1A2-related drug metabolism
DLL4 Adams-Oliver syndrome 6
EIF2AK4 Pulmonary venoocclusive disease 2
FAH Tyrosinemia, type I
FAN1 Interstitial nephritis, karyomegalic
FBN1 Marfan syndrome
MASS syndrome
Shprintzen-Goldberg syndrome
Marfan lipodystrophy syndrome
GATM Cerebral creatine deficiency syndrome 3
HERC2 Skin/hair/eye pigmentation 1
Mental retardation, autosomal recessive 38
IGF1R Insulin-like growth factor I, resistance to
KIF7 Hydrolethalus syndrome 2
Acrocallosal syndrome
Joubert syndrome 12
Al-Gazali-Bakalinova syndrome
LIPC Hepatic lipase deficiency
MESP2 Spondylocostal dysostosis 2, autosomal recessive
MYO5A Griscelli syndrome, type 1
NDUFAF1 Mitochondrial complex I deficiency
NIPA1 Spastic paraplegia 6
OCA2 Albinism, oculocutaneous, type II
Albinism, brown oculocutaneous
Skin/hair/eye pigmentation 1
SLC12A1 Bartter syndrome, antenatal, type 1
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)
SPG11 Amyotrophic lateral sclerosis 5, juvenile recessive
Charcot-Marie-Tooth disease, axonal, type 2X
Spastic paraplegia 11
SPRED1 Legius syndrome
TPM1 Cardiomyopathy, dilated, 1Y
Cardiomyopathy, familial hypertrophic, 3
TRIP4 Spinal muscular atrophy with congenital bone fractures 1 (AR)
TRPM1 Night blindness, congenital stationary, type 1C
TTBK2 Spinocerebellar ataxia 11
UBR1 Johanson-Blizzard syndrome
VPS13C Parkinson disease 23, autosomal recessive, early onset
VPS39 Schizophrenia
WDR73 Galloway-Mowat syndrome
ZNF592 Spinocerebellar ataxia, autosomal recessive 5

Genes at HGMD

Summary

Number of Variants: 1258
Number of Genes: 177

Export to: CSV

ACAN
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 miller 15 rs3825994
dbSNP Clinvar 		89401615 310.11 T G PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.53255 0.53250 0.35216 None None None None None None ACAN|0.017538305|75.58%
View miller 15 rs1126823
dbSNP Clinvar 		89417238 188.23 A G PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.40675 0.40670 0.39531 1.00 0.00 None None None None None None ACAN|0.017538305|75.58%
View miller 15 rs1042630
dbSNP Clinvar 		89402051 239.37 A G PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.64597 0.64600 0.26503 0.20 0.01 None None None None None None ACAN|0.017538305|75.58%
View miller 15 rs2272023
dbSNP Clinvar 		89391160 389.54 C A PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.69429 0.69430 0.20369 None None None None None None ACAN|0.017538305|75.58%
View miller 15 rs938608
dbSNP Clinvar 		89398605 201.64 G T PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.45268 0.45270 0.40313 0.01 0.84 None None None None None None ACAN|0.017538305|75.58%
View miller 15 rs938609
dbSNP Clinvar 		89398631 459.67 T A PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.39217 0.39220 0.43306 0.07 0.78 None None None None None None ACAN|0.017538305|75.58%
View miller 15 rs2882676
dbSNP Clinvar 		89400339 430.13 A C PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.42412 0.42410 0.43105 0.19 0.24 None None None None None None ACAN|0.017538305|75.58%

ACSBG1
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 miller 15 rs2304824
dbSNP Clinvar 		78466127 560.96 T C PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.52676 0.52680 0.43674 0.87 0.00 None None None None None None ACSBG1|0.055446923|61.08%

ADAMTS17
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 miller 15 rs61752832
dbSNP Clinvar 		100649248 588.26 G A PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.08526 0.08526 0.08811 None None None None None None ADAMTS17|0.138524801|44.61%
View miller 15 rs4965583
dbSNP Clinvar 		100636586 1661.86 G A PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.26378 0.26380 0.16569 None None None None None None ADAMTS17|0.138524801|44.61%

ADAMTS7
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 miller 15 rs7495616
dbSNP Clinvar 		79054900 99.86 C G PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.66653 0.66650 0.26927 1.00 0.00 None None None None None None ADAMTS7|0.010836867|80.23%
View miller 15 rs2127898
dbSNP Clinvar 		79083120 340.3 G A PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.27030 0.01 0.98 None None None None None None ADAMTS7|0.010836867|80.23%
View miller 15 rs2929155
dbSNP Clinvar 		79058013 242.59 C T PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.67013 0.67010 0.25344 1.00 0.00 None None None None None None ADAMTS7|0.010836867|80.23%

ADAMTSL3
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 miller 15 rs950169
dbSNP Clinvar 		84706461 483.77 C T PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.12899 0.12900 0.19479 0.05 0.00 None None None None None None ADAMTSL3|0.040550889|65.6%
View miller 15 rs12439867
dbSNP Clinvar 		84581889 475.43 G A PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.38638 0.38640 0.28833 None None None None None None ADAMTSL3|0.040550889|65.6%
View miller 15 rs8031704
dbSNP Clinvar 		84651185 839.53 C A PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.37600 0.37600 0.40989 None None None None None None ADAMTSL3|0.040550889|65.6%

AEN
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 miller 15 rs147477549
dbSNP Clinvar 		89169738 518.63 G A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.00269 0.73 0.00 None None None None None None AEN|0.108873578|49.4%
View miller 15 rs34649587
dbSNP Clinvar 		89169653 106.2 G A PASS 0/1 8 SYNONYMOUS_CODING LOW None 0.04034 0.04034 0.04096 None None None None None None AEN|0.108873578|49.4%

AGBL1
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 miller 15 rs1006030
dbSNP Clinvar 		87531281 1455.29 A C PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.82069 0.82070 0.19396 None None None None None None AGBL1|0.082073978|54.74%

AKAP13
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 miller 15 rs2241268
dbSNP Clinvar 		86278309 1501.1 G A PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.13658 0.13660 0.19151 0.04 0.97 None None None None None None AKAP13|0.042148693|65.04%
View miller 15 rs61734378
dbSNP Clinvar 		86286787 1208.87 C T PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.05551 0.05551 0.04122 0.14 0.02 None None None None None None AKAP13|0.042148693|65.04%
View miller 15 rs79991499
dbSNP Clinvar 		86262383 369.24 G A PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.00240 0.00240 0.00400 None None None None None None AKAP13|0.042148693|65.04%
View miller 15 rs16942564
dbSNP Clinvar 		86182670 567.94 G A PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.06070 0.06070 0.05122 None None None None None None AKAP13|0.042148693|65.04%
View miller 15 rs4843073
dbSNP Clinvar 		86124419 1124.65 C T PASS 1/1 35 SYNONYMOUS_CODING LOW None 0.58147 0.58150 0.37371 None None None None None None AKAP13|0.042148693|65.04%
View miller 15 rs745191
dbSNP Clinvar 		86123170 554.46 G T PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.13459 0.13460 0.20412 0.01 0.00 None None None None None None AKAP13|0.042148693|65.04%

ALPK3
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 miller 15 rs3803405
dbSNP Clinvar 		85383640 183.43 G A PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.13798 0.13800 0.19734 0.06 0.09 None None None None None None ALPK3|0.009711296|81.06%
View miller 15 rs3803403
dbSNP Clinvar 		85383145 93.62 C G PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.13638 0.13640 0.19848 0.07 0.06 None None None None None None ALPK3|0.009711296|81.06%

ANPEP
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 miller 15 rs2305443
dbSNP Clinvar 		90346861 473.41 C T PASS 0/1 31 None None None 0.45567 0.45570 0.48831 0.00 0.00 None None None None None None ANPEP|0.009750059|81.03%
View miller 15 rs41276916
dbSNP Clinvar 		90347792 787.12 C A PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.03335 0.03335 0.05662 None None None None None None ANPEP|0.009750059|81.03%
View miller 15 rs25654
dbSNP Clinvar 		90334240 584.31 A G PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.31350 0.31350 0.33221 None None None None None None ANPEP|0.009750059|81.03%
View miller 15 rs17240240
dbSNP Clinvar 		90347783 915.67 C T PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.03994 0.03994 0.06309 None None None None None None ANPEP|0.009750059|81.03%
View miller 15 rs41276922
dbSNP Clinvar 		90349461 307.02 G A PASS 0/1 19 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04253 0.04253 0.06724 None None None None None None ANPEP|0.009750059|81.03%
View miller 15 rs25652
dbSNP Clinvar 		90335534 1110.24 G A PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.25220 0.25220 0.26219 None None None None None None ANPEP|0.009750059|81.03%
View miller 15 rs17240268
dbSNP Clinvar 		90347814 651.27 G A PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.07189 0.07188 0.09994 0.20 0.51 None None None None None None ANPEP|0.009750059|81.03%
View miller 15 rs25651
dbSNP Clinvar 		90335788 438.21 C T PASS 0/1 33 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.35064 0.35060 0.37537 1.00 0.00 None None None None None None ANPEP|0.009750059|81.03%

APBA2
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 miller 15 rs141358568
dbSNP Clinvar 		29346257 537.9 C T PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00069 0.39 0.00 None None None None None None APBA2|0.06363753|58.98%

ARRDC4
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 miller 15 rs2130882
dbSNP Clinvar 		98513845 122.38 T C PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.41913 0.41910 0.37514 0.17 0.88 None None None None None None ARRDC4|0.053899861|61.5%

ATP10A
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 miller 15 rs1047700
dbSNP Clinvar 		25924539 742.19 T C PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.26637 0.26640 0.22836 None None None None None None ATP10A|0.032097365|68.57%
View miller 15 rs2076744
dbSNP Clinvar 		25926179 414.83 C T PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.28215 0.28210 0.24735 0.06 0.10 None None None None None None ATP10A|0.032097365|68.57%
View miller 15 rs2076743
dbSNP Clinvar 		25926186 417.32 G A PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.67792 0.67790 0.31993 None None None None None None ATP10A|0.032097365|68.57%

ATP8B4
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 miller 15 rs2452524
dbSNP Clinvar 		50226313 537.72 G T PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.63978 0.63980 0.25628 0.18 0.00 None None None None None None ATP8B4|0.392767287|21.21%

BCL2A1
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 miller 15 rs8026803
dbSNP Clinvar 		80260014 411.54 T C PASS 0/1 27 None None None 0.38938 0.38940 0.29010 None None None None None None BCL2A1|0.007127851|83.37%
View miller 15 rs1138358
dbSNP Clinvar 		80263345 1127.59 A C PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.45887 0.45890 0.36291 1.00 0.00 None None None None None None BCL2A1|0.007127851|83.37%

BLM
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 miller 15 rs7167216
dbSNP Clinvar 		91354521 273.52 G A PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.06709 0.06709 0.07535 0.33 0.00 None None None None None None BLM|0.189946543|37.81%
View miller 15 rs2227935
dbSNP Clinvar 		91326099 206.35 C T PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.05132 0.05132 0.06804 0.00 0.15 None None None None None None BLM|0.189946543|37.81%

BUB1B
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 miller 15 rs1047130
dbSNP Clinvar 		40488851 960.48 G A PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.19070 0.19070 0.22643 None None None None None None BUB1B|0.539848425|14.21%
View miller 15 rs1801376
dbSNP Clinvar 		40477831 794.76 G A PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.62820 0.62820 0.26403 1.00 0.00 None None None None None None BUB1B|0.539848425|14.21%

C15orf39
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 miller 15 rs28509789
dbSNP Clinvar 		75499995 394.36 T G PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.39237 0.39240 0.33076 0.62 0.00 None None None None None None C15orf39|0.009123795|81.57%

C15orf40
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 miller 15 rs4842860
dbSNP Clinvar 		83680287 167.75 A G PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.62340 0.62340 0.34738 0.43 0.00 None None None None None None C15orf40|0.007724332|82.82%

C15orf41
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 miller 15 rs3784678
dbSNP Clinvar 		36946303 143.69 C G PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.49701 0.49700 0.43983 0.08 0.50 None None None None None None C15orf41|0.924370547|2.88%

C15orf59
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 miller 15 rs28594180
dbSNP Clinvar 		74032783 1136.98 A G PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.44808 0.44810 0.37104 None None None None None None C15orf59|0.082244238|54.72%

CCDC33
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 miller 15 rs56107695
dbSNP Clinvar 		74560776 536.37 G T PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.08207 0.08207 0.07449 0.00 0.88 None None None None None None CCDC33|0.011870787|79.31%
View miller 15 rs10552820,rs35899977,rs397774110
dbSNP Clinvar 		74536400 1689.26 TAAG T PASS 1/1 38 CODON_DELETION MODERATE None 0.37700 0.37700 0.46150 None None None None None None CCDC33|0.011870787|79.31%

CCPG1
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 miller 15 rs501231
dbSNP Clinvar 		55653031 473.09 A G PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.45547 0.45550 0.44157 None None None None None None CCPG1|0.045894968|63.94%

CDAN1
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 miller 15 rs7167392
dbSNP Clinvar 		43028592 188.37 G A PASS 0/1 14 SYNONYMOUS_CODING LOW None 0.26058 0.26060 0.26875 None None None None None None CDAN1|0.166826698|40.71%
View miller 15 rs12917189
dbSNP Clinvar 		43023482 835.71 T C PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.45367 0.45370 0.41626 0.95 0.00 None None None None None None CDAN1|0.166826698|40.71%
View miller 15 rs8023524
dbSNP Clinvar 		43020983 334.93 G A PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.26298 0.26300 0.26961 0.05 0.41 None None None None None None CDAN1|0.166826698|40.71%
View miller 15 rs16957091
dbSNP Clinvar 		43017426 541.97 T G PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.46146 0.46150 0.43025 None None None None None None CDAN1|0.166826698|40.71%

CHD2
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 miller 15 rs12906163
dbSNP Clinvar 		93567864 689.73 A C PASS 1/1 28 SYNONYMOUS_CODING LOW None 0.18650 0.18650 0.31468 None None None None None None CHD2|0.402314815|20.62%
View miller 15 rs2272457
dbSNP Clinvar 		93536197 253.99 C T PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.19349 0.19350 0.24850 None None None None None None CHD2|0.402314815|20.62%

CHRNB4
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 miller 15 rs55919125
dbSNP Clinvar 		78922194 177.97 G A PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.02216 0.02216 0.03768 None None None None None None CHRNB4|0.059890218|59.88%

CHSY1
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 miller 15 rs8024370
dbSNP Clinvar 		101717680 355.28 G T PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.75978 0.75980 0.33523 None None None None None None CHSY1|0.085657986|54.01%
View miller 15 rs28364839
dbSNP Clinvar 		101718097 742.44 C G PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.24082 0.24080 0.29809 None None None None None None CHSY1|0.085657986|54.01%

CIB2
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 miller 15 rs10456
dbSNP Clinvar 		78398146 538.33 G A PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.12760 0.12760 0.18786 None None None None None None CIB2|0.08590016|53.95%

CILP
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 miller 15 rs2679117
dbSNP Clinvar 		65489688 1283.82 T C PASS 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.99101 0.99100 0.01392 1.00 0.00 None None None None None None CILP|0.25593882|31.04%

CPEB1
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 miller 15 rs1267657
dbSNP Clinvar 		83215251 838.25 T C PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.44149 0.44150 0.38515 None None None None None None CPEB1|0.852594576|4.58%

CRABP1
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 miller 15 rs1127472
dbSNP Clinvar 		78632830 101.5 C G PASS 0/1 7 SYNONYMOUS_CODING LOW None 0.53275 0.53270 0.41919 None None None None None None CRABP1|0.428631582|19.21%

CRTC3
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 miller 15 rs8033595
dbSNP Clinvar 		91083353 177.83 G A PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.37360 0.37360 0.49823 0.17 0.85 None None None None None None CRTC3|0.105797026|50.06%

CSK
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 miller 15 rs11553760
dbSNP Clinvar 		75091247 352.19 C T PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.08926 0.08926 0.02611 None None None None None None CSK|0.400426562|20.75%

CSNK1G1
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 miller 15 rs6494466
dbSNP Clinvar 		64508763 443.11 G A PASS 0/1 34 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.48542 0.48540 0.46202 None None None None None None CSNK1G1|0.679298986|9.11%

CSPG4
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 miller 15 rs7182906
dbSNP Clinvar 		75982428 204.34 C T PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.28415 0.28410 None None None None None None CSPG4|0.030731108|69.09%
View miller 15 rs8023621
dbSNP Clinvar 		75970070 940.9 C T PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.26298 0.26300 0.33292 0.24 0.00 None None None None None None CSPG4|0.030731108|69.09%
View miller 15 rs8030131
dbSNP Clinvar 		75979782 505.98 G T PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.38439 0.38440 0.45978 None None None None None None CSPG4|0.030731108|69.09%
View miller 15 rs4414463
dbSNP Clinvar 		75980112 483.42 A G PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.44129 0.44130 0.49122 None None None None None None CSPG4|0.030731108|69.09%
View miller 15 rs12900539
dbSNP Clinvar 		75981507 285.03 A G PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.37340 0.37340 0.45398 None None None None None None CSPG4|0.030731108|69.09%

CTSH
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 miller 15 rs13345
dbSNP Clinvar 		79224747 384.73 C T PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.30292 0.30290 0.27824 None None None None None None CTSH|0.049946338|62.67%

CYFIP1
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 miller 15 rs11633474
dbSNP Clinvar 		22939192 1124.57 G A PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.33007 0.33010 0.44603 None None None None None None CYFIP1|0.362096046|23.3%

CYP19A1
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 miller 15 rs700518
dbSNP Clinvar 		51529112 715.79 T C PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.32588 0.32590 0.40461 None None None None None None CYP19A1|0.496999765|15.99%

CYP1A2
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 miller 15 rs2470890
dbSNP Clinvar 		75047426 397.41 C T PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.23622 0.23620 0.47482 None None None None None None CYP1A2|0.080566109|55.04%

DIS3L
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 miller 15 rs17851970
dbSNP Clinvar 		66612965 323.33 T C PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.18790 0.18790 0.20469 None None None None None None DIS3L|0.054992004|61.19%

DLL4
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 miller 15 rs28568593
dbSNP Clinvar 		41227149 836.24 T C PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.01158 0.01158 0.01409 None None None None None None DLL4|0.68345451|8.98%

DNAJA4
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 miller 15 rs7163689
dbSNP Clinvar 		78565478 480.61 C T PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.43271 0.43270 0.48382 None None None None None None DNAJA4|0.073657596|56.59%

DPP8
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 miller 15 rs118088815
dbSNP Clinvar 		65804892 1034.43 G A PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.00719 0.00719 0.01769 None None None None None None DPP8|0.33895907|24.9%

DUOX1
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 miller 15 rs1706804
dbSNP Clinvar 		45444518 157.18 A G PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.57668 0.57670 0.38855 None None None None None None DUOX1|0.119511675|47.53%
View miller 15 rs2458236
dbSNP Clinvar 		45446156 401.74 C T PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.55332 0.55330 0.40856 0.32 0.02 None None None None None None DUOX1|0.119511675|47.53%

EFTUD1
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 miller 15 rs905450
dbSNP Clinvar 		82444437 743.16 A G PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.78554 0.78550 0.19270 None None None None None None EFTUD1|0.03346086|67.96%

EHD4
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 miller 15 rs113393602
dbSNP Clinvar 		42192885 167.79 G A PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.04093 0.04093 0.04825 None None None None None None EHD4|0.250712904|31.47%

EIF2AK4
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 miller 15 rs2307105
dbSNP Clinvar 		40265799 1049.05 A G PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.84445 0.84440 0.05733 0.64 0.00 None None None None None None EIF2AK4|0.222061517|34.2%
View miller 15 rs3207297
dbSNP Clinvar 		40313141 891.2 C T PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.30511 0.30510 0.35547 None None None None None None EIF2AK4|0.222061517|34.2%
View miller 15 rs35602605
dbSNP Clinvar 		40308859 322.17 G T PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.06989 0.06989 0.13751 0.05 1.00 None None None None None None EIF2AK4|0.222061517|34.2%

EXD1
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 miller 15 rs690733
dbSNP Clinvar 		41476465 1025.61 G A PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.52396 0.52400 0.45917 None None None None None None EXD1|0.051051344|62.34%
View miller 15 rs1971131
dbSNP Clinvar 		41483682 325.7 A G PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.34145 0.34150 0.28010 None None None None None None EXD1|0.051051344|62.34%

FAH
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 miller 15 rs147016995
dbSNP Clinvar 		80464532 371.02 C A PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00015 None None None None None None FAH|0.042597045|64.92%

FAM154B
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 miller 15 rs16973457
dbSNP Clinvar 		82563991 242.56 C T PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.37380 0.37380 0.46271 0.10 0.65 None None None None None None SAXO2|0.010010378|80.83%
View miller 15 rs11631813
dbSNP Clinvar 		82555242 63.59 A G PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.20787 0.20790 0.16172 0.14 0.03 None None None None None None SAXO2|0.010010378|80.83%
View miller 15 rs11630197
dbSNP Clinvar 		82574879 496.44 T C PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.23482 0.23480 0.22574 0.00 1.00 None None None None None None SAXO2|0.010010378|80.83%

FAM214A
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 miller 15 rs58018557
dbSNP Clinvar 		52901284 1108.95 T C PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.49361 0.49360 0.26788 None None None None None None FAM214A|0.372550339|22.57%
View miller 15 rs3751613
dbSNP Clinvar 		52901914 167.16 T C PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.07668 0.07668 0.03506 None None None None None None FAM214A|0.372550339|22.57%
View miller 15 rs8036680
dbSNP Clinvar 		52903772 420.94 T C PASS 0/1 31 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.07808 0.07808 0.10675 0.17 0.99 None None None None None None FAM214A|0.372550339|22.57%
View miller 15 rs61731670
dbSNP Clinvar 		52901283 1163.05 T C PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.43071 0.43070 0.21681 0.27 0.00 None None None None None None FAM214A|0.372550339|22.57%