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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
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CADD

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Genes at Omim

ACADSB, ATN1, C4A, CES1, CYP2A6, DDX11, GIGYF2, GYPA, HLA-DRB1, HYDIN, KMT2C, KRT4, MYO5B, NEFH, NOTCH2, PER3, PRSS1, PSPH, SFTPA2,
ACADSB 2-methylbutyrylglycinuria, 610006 (3)
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)
C4A C4a deficiency, 614380 (3)
[Blood group, Rodgers], 614374 (3)
CES1 Drug metabolism, altered, CES1-related, 618057 (3)
CYP2A6 {Lung cancer, resistance to}, 211980 (3)
Coumarin resistance, 122700 (3)
{Nicotine addiction, protection from}, 188890 (3)
DDX11 Warsaw breakage syndrome, 613398 (3)
GIGYF2 {Parkinson disease 11}, 607688 (3)
GYPA {Malaria, resistance to}, 611162 (3)
[Blood group, MNSs system], 111300 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
KRT4 White sponge nevus 1, 193900 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3)
?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
NOTCH2 Alagille syndrome 2, 610205 (3)
Hajdu-Cheney syndrome, 102500 (3)
PER3 ?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)
PSPH Phosphoserine phosphatase deficiency, 614023 (3)
SFTPA2 Pulmonary fibrosis, idiopathic, 178500 (3)

Genes at Clinical Genomics Database

ACADSB, ATN1, C4A, CES1, CYP2A6, CYP4F2, DDX11, GIGYF2, GYPA, KRT4, MYO5B, NEFH, NOTCH2, PER3, PRSS1, PSPH, SFTPA2,
ACADSB 2-methylbutyryl-CoA dehydrogenase deficiency
ATN1 Dentatorubro-pallidoluysian atrophy
C4A Blood group, Chido/Rodgers system
CES1 Carboxylesterase 1 deficiency
CYP2A6 CYP2A6-related drug metabolism
CYP4F2 Warfarin metabolism
DDX11 Warsaw breakage syndrome
GIGYF2 Parkinson disease, autosomal dominant, 11
GYPA Blood group, MN locus
Blood group, Erik
KRT4 White sponge nevus 1
MYO5B Diarrhea 2, with microvillus atrophy
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC
NOTCH2 Alagille syndrome 2
PER3 Advanced sleep phase syndrome, familial, 3
PRSS1 Pancreatitis, hereditary
PSPH Phosphoserine phosphatase deficiency
SFTPA2 Pulmonary fibrosis, idiopathic

Genes at HGMD

Summary

Number of Variants: 65
Number of Genes: 33

Export to: CSV
  • Page 1 of 1

ACADSB

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 wanguard_s1 10 rs1140591
dbSNP Clinvar
124800853 82.54 C T LowVariantFreq 0/1 27 SYNONYMOUS_CODING LOW None 0.22784 0.22780 0.22813 None None None None None None ACADSB|0.041043879|65.42%

APOBEC3B

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 wanguard_s1 22 rs1065184
dbSNP Clinvar
39387558 262.09 C T LowVariantFreq 0/1 91 SYNONYMOUS_CODING LOW None 0.48365 None None None None None None APOBEC3B|0.000325736|99.32%

ATN1

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 wanguard_s1 12 rs60216939
dbSNP Clinvar
7045891 4548.35 AC... A,... LowVariantFreq 1/2 126 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ATN1|0.702926343|8.41%

C4A

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 wanguard_s1 6 rs28357074
dbSNP Clinvar
31964316 241.21 G C LowVariantFreq 0/1 110 SYNONYMOUS_CODING LOW None None None None None None None C4A|0.012992445|78.51%
View wanguard_s1 6 rs28357075
dbSNP Clinvar
31964321 229.17 T C LowVariantFreq 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.14 0.00 None None None None None None C4A|0.012992445|78.51%

CDK5RAP3

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 wanguard_s1 17 rs202125432
dbSNP Clinvar
46053334 62.67 A G LowVariantFreq 0/1 68 SYNONYMOUS_CODING LOW None None None None None None None CDK5RAP3|0.244591627|32.06%

CES1

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 wanguard_s1 16 rs76828834
dbSNP Clinvar
55862717 307.94 T C LowVariantFreq 0/1 178 SYNONYMOUS_CODING LOW None None None None None None None CES1|0.015845795|76.58%
View wanguard_s1 16 rs62028647
dbSNP Clinvar
55862691 356.59 G A LowVariantFreq 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.32 None None None None None None CES1|0.015845795|76.58%
View wanguard_s1 16 rs3826190
dbSNP Clinvar
55862883 260.84 C A LowVariantFreq 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.89 None None None None None None CES1|0.015845795|76.58%
View wanguard_s1 16 rs3826193
dbSNP Clinvar
55862791 310.84 T C LowVariantFreq 0/1 293 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None CES1|0.015845795|76.58%
View wanguard_s1 16 rs3826194
dbSNP Clinvar
55862762 283.93 C G LowVariantFreq 0/1 289 SYNONYMOUS_CODING LOW None None None None None None None CES1|0.015845795|76.58%
View wanguard_s1 16 rs74019278
dbSNP Clinvar
55862720 241.08 T C LowVariantFreq 0/1 205 SYNONYMOUS_CODING LOW None None None None None None None CES1|0.015845795|76.58%

CYP2A6

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 wanguard_s1 19 rs2302990
dbSNP Clinvar
41355849 66.04 A G LowVariantFreq 0/1 127 SYNONYMOUS_CODING LOW None None None None None None None CYP2A6|0.439107836|18.72%

CYP4F2

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 wanguard_s1 19 rs4020346
dbSNP Clinvar
15989730 173.75 T C LowVariantFreq 0/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.29 0.01 None None None None None None CYP4F2|0.005649881|85.05%

DDX11

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 wanguard_s1 12 rs141443776
dbSNP Clinvar
31255227 116.34 A G LowVariantFreq 0/1 58 SYNONYMOUS_CODING LOW None None None None None None None DDX11|0.01203892|79.21%

FOLH1

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 wanguard_s1 11 rs75111588
dbSNP Clinvar
49208267 106.43 G A LowVariantFreq 0/1 126 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 0.67 None None None None None None FOLH1|0.065976588|58.36%

FRG1

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 wanguard_s1 4 rs150472183
dbSNP Clinvar
190876301 17.75 C A LowVariantFreq 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.04 None None None None None None FRG1|0.098149242|51.5%
View wanguard_s1 4 rs201275486
dbSNP Clinvar
190874256 570.54 C T LowVariantFreq 0/1 231 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.34 None None None None None None FRG1|0.098149242|51.5%
View wanguard_s1 4 rs17425201
dbSNP Clinvar
190874255 252.62 A T LowVariantFreq 0/1 237 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.07 None None None None None None FRG1|0.098149242|51.5%
View wanguard_s1 4 rs200620299
dbSNP Clinvar
190874234 362.48 C T LowVariantFreq 0/1 269 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.98 None None None None None None FRG1|0.098149242|51.5%

GIGYF2

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 wanguard_s1 2 . 233712226 8575.44 CA... C,... LowVariantFreq 1/2 121 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None GIGYF2|0.544298923|14.01%

GON4L

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 wanguard_s1 1 rs607834
dbSNP Clinvar
155733257 173.77 T C LowVariantFreq 0/1 133 SYNONYMOUS_CODING LOW None None None None None None None GON4L|0.039108686|66.06%
View wanguard_s1 1 rs754443748
dbSNP Clinvar
155733245 118.72 C T LowVariantFreq 0/1 144 SYNONYMOUS_CODING LOW None None None None None None None GON4L|0.039108686|66.06%

GYPA

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 wanguard_s1 4 rs7682260
dbSNP Clinvar
145041720 151.08 A G LowVariantFreq 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.28514 0.28510 0.21740 0.08 0.00 None None None None None None GYPB|0.000311955|99.37%,GYPA|0.000199751|99.78%

HLA-DRB1

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 wanguard_s1 6 rs113175445
dbSNP Clinvar
32548581 22.08 A G LowVariantFreq 0/1 252 SYNONYMOUS_CODING LOW None None None None None None None HLA-DRB1|0.032266025|68.49%
View wanguard_s1 6 rs1136881
dbSNP Clinvar
32548632 191.29 T A LowVariantFreq 0/1 113 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.05 0.20 None None None None None None HLA-DRB1|0.032266025|68.49%

HYDIN

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 wanguard_s1 16 rs1774311
dbSNP Clinvar
70908239 427.67 G A LowVariantFreq 0/1 227 SYNONYMOUS_CODING LOW None None None None None None None HYDIN|0.080749251|55.02%
View wanguard_s1 16 rs2271453
dbSNP Clinvar
71094434 416.0 G A LowVariantFreq 0/1 108 SYNONYMOUS_CODING LOW None None None None None None None HYDIN|0.080749251|55.02%

IGHA1

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 wanguard_s1 14 rs1407
dbSNP Clinvar
106174261 1213.98 C G LowVariantFreq 0/1 301 NON_SYNONYMOUS_CODING MODERATE None 0.33007 0.33010 0.23669 0.34 0.51 None None None None None None None

KIR2DL3

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 wanguard_s1 19 rs143258060
dbSNP Clinvar
55250979 251.37 C A LowVariantFreq 0/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.02 None None None None None None KIR3DL1|0.000640018|97.61%,KIR2DL4|0.000718329|97.16%,KIR2DL3|0.000872917|96.18%

KMT2C

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 wanguard_s1 7 rs62478356
dbSNP Clinvar
151962176 37.31 T A LowVariantFreq 0/1 40 SYNONYMOUS_CODING LOW None None None None None None None KMT2C|0.088346598|53.58%
View wanguard_s1 7 rs111791757
dbSNP Clinvar
151932916 173.08 C G LowVariantFreq 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.17 0.01 None None None None None None KMT2C|0.088346598|53.58%
View wanguard_s1 7 rs774336646
dbSNP Clinvar
151932923 195.98 G A LowVariantFreq 0/1 111 SYNONYMOUS_CODING LOW None None None None None None None KMT2C|0.088346598|53.58%

KRT4

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 wanguard_s1 12 rs11267392
dbSNP Clinvar
53207583 7589.72 C CC... LowVariantFreq 1/1 25 CODON_INSERTION MODERATE None 0.00080 0.87900 None None None None None None KRT4|0.094749162|52.19%

KRTAP1-1

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 wanguard_s1 17 rs145621540
dbSNP Clinvar
39197593 452.02 G T LowVariantFreq 0/1 204 SYNONYMOUS_CODING LOW None None None None None None None KRTAP1-1|0.015451113|76.85%
View wanguard_s1 17 rs748281420
dbSNP Clinvar
39197549 455.34 G C LowVariantFreq 0/1 226 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None KRTAP1-1|0.015451113|76.85%
View wanguard_s1 17 rs146863522
dbSNP Clinvar
39197538 392.25 G T LowVariantFreq 0/1 222 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None KRTAP1-1|0.015451113|76.85%

MAP2K3

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 wanguard_s1 17 rs2230436
dbSNP Clinvar
21207844 565.13 C T LowVariantFreq 0/1 178 SYNONYMOUS_CODING LOW None None None None None None None MAP2K3|0.4379498|18.79%

MUC3A

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 wanguard_s1 7 rs73714276
dbSNP Clinvar
100608370 214.32 A C LowVariantFreq 0/1 87 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.04 0.29 None None None None None None MUC3A|0.001683398|91.94%

MYO5B

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 wanguard_s1 18 rs79271359
dbSNP Clinvar
47363930 216.39 A G LowVariantFreq 0/1 172 SYNONYMOUS_CODING LOW None None None None None None None MYO5B|0.123721802|46.86%
View wanguard_s1 18 rs77840018
dbSNP Clinvar
47363931 201.34 G C LowVariantFreq 0/1 175 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None MYO5B|0.123721802|46.86%

NBPF1

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 wanguard_s1 1 rs3872309
dbSNP Clinvar
16891333 685.47 C T LowVariantFreq 0/1 408 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.36 None None None None None None NBPF1|0.000800065|96.65%

NEFH

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 wanguard_s1 22 rs75808076
dbSNP Clinvar
29885567 60.42 A C LowVariantFreq 0/1 101 SYNONYMOUS_CODING LOW None None None None None None None NEFH|0.345641231|24.44%

NOTCH2

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 wanguard_s1 1 rs782113557
dbSNP Clinvar
120612014 25.39 C A LowVariantFreq 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.50 0.84 None None None None None None NOTCH2|0.911167567|3.21%
View wanguard_s1 1 rs200646249
dbSNP Clinvar
120612013 28.36 G A LowVariantFreq 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.57 0.74 None None None None None None NOTCH2|0.911167567|3.21%
View wanguard_s1 1 rs11810554
dbSNP Clinvar
120611964 45.17 G C LowVariantFreq 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.18 0.00 None None None None None None NOTCH2|0.911167567|3.21%
View wanguard_s1 1 rs2603926
dbSNP Clinvar
120611960 78.86 C T LowVariantFreq 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.57 0.01 None None None None None None NOTCH2|0.911167567|3.21%

PER3

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 wanguard_s1 1 rs1776342
dbSNP Clinvar
7890053 53.15 G A LowVariantFreq 0/1 155 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None PER3|0.006025566|84.56%

PRSS1

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 wanguard_s1 7 rs201719096
dbSNP Clinvar
142460369 70.48 G A LowVariantFreq 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.60 0.00 None None None None None None PRSS1|0.013065246|78.46%

PSPH

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 wanguard_s1 7 rs77329757
dbSNP Clinvar
56088902 48.86 C T LowVariantFreq 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.26 0.00 None None None None None None PSPH|0.136807206|44.89%

RHPN2

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 wanguard_s1 19 rs78615454
dbSNP Clinvar
33490585 89.03 G A LowVariantFreq 0/1 106 STOP_GAINED HIGH None None None None None None None RHPN2|0.04493503|64.24%

SFTPA2

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 wanguard_s1 10 rs1965707
dbSNP Clinvar
81317292 97.65 G A LowVariantFreq 0/1 128 SYNONYMOUS_CODING LOW None 0.34884 0.34880 None None None None None None SFTPA2|0.00560902|85.09%

TPTE

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 wanguard_s1 21 rs76723236
dbSNP Clinvar
10942923 420.08 G A LowVariantFreq 0/1 133 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00 0.01 None None None None None None TPTE|0.001635216|92.18%
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 wanguard_s1 6 rs3830127
dbSNP Clinvar
32548520 434.44 C T LowVariantFreq 0/1 217 None None None None None None None None None HLA-DRB1|0.032266025|68.49%
View wanguard_s1 6 rs3830128
dbSNP Clinvar
32548514 407.82 G A LowVariantFreq 0/1 218 None None None None None None None None None HLA-DRB1|0.032266025|68.49%
View wanguard_s1 19 rs761764097
dbSNP Clinvar
36642561 29.74 G C LowVariantFreq 0/1 73 None None None 0.63518 0.63520 None None None None None None COX7A1|0.025100668|71.74%
View wanguard_s1 21 rs6582917
dbSNP Clinvar
10935004 501.37 A T LowVariantFreq 0/1 196 None None None None None None None None None TPTE|0.001635216|92.18%
View wanguard_s1 19 rs765192413
dbSNP Clinvar
33490487 12.44 C T LowVariantFreq 0/1 78 None None None None None None None None None RHPN2|0.04493503|64.24%
View wanguard_s1 7 rs77025884
dbSNP Clinvar
148106477 28.42 C G LowVariantFreq 0/1 59 None None None 0.54792 0.54790 None None None None None None CNTNAP2|0.836009361|4.94%
View wanguard_s1 7 rs75592954
dbSNP Clinvar
100608375 178.77 G A LowVariantFreq 0/1 85 None None None None None None None None None MUC3A|0.001683398|91.94%
View wanguard_s1 16 rs141146619,rs71142795
dbSNP Clinvar
1025977 6610.12 G GC... LowVariantFreq 0/1 214 None None None 0.50759 0.50760 None None None None None None LMF1|0.017657655|75.51%
View wanguard_s1 9 rs76143126
dbSNP Clinvar
33386064 165.87 C G LowVariantFreq 0/1 65 None None None None None None None None None AQP7|0.012677613|78.76%
View wanguard_s1 2 rs200985332
dbSNP Clinvar
112615875 68.96 A C LowVariantFreq 0/1 68 None None None None None None None None None ANAPC1|0.14646446|43.53%
View wanguard_s1 4 rs111797658
dbSNP Clinvar
190874290 294.38 T A LowVariantFreq 0/1 200 None None None None None None None None None FRG1|0.098149242|51.5%
View wanguard_s1 4 rs146400730
dbSNP Clinvar
144801671 550.6 A C LowVariantFreq 0/1 228 None None None None None None None None None GYPE|0.000492079|98.47%
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