Mendel,MD | Dashboard

+ Filter Options

SELECT VARIANTS FROM		EXCLUDE VARIANTS FROM
INDIVIDUALS: SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
SELECT INHERITANCE:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:

VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

DBSNP BUILD: EXCLUDE VARIANTS AT VARISNP	READ DEPTH: QUAL:	VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

OPEN RESULT IN A NEW WINDOW

RESET FILTER | Save Config | Save Analysis

Genes:
A2ML1, AC005609.1, AC008686.1, AC012123.1, AC017104.2, AC096644.1, AGAP3, AGAP6, AL133373.1, AL136115.1, ALG9, ANKRD36, ANKRD36C, AOAH, AP001468.1, AQP12B, ARHGEF28, ASB10, ATG9B, ATP2B3, B3GNT3, B3GNT6, BCL11A, BCR, C11orf40, C14orf23, C17orf100, C21orf49, CARD8, CASP9, CCDC144NL, CCNK, CD200R1L, CDC27, CDCP2, CDK12, CELA1, CEP89, CHTF18, CLEC1A, CLECL1, CNN2, COL26A1, COL6A5, COPZ2, CRIPAK, CSHL1, CTB-78H18.1, CTBP2, CYP2D6, CYP2D7P, CYP2F1, DCAF7, DEFB126, DHDH, DNAH7, DUX4L7, EPDR1, EPPK1, FAM104B, FAM136A, FLG, FOXD1, FOXD4, FOXO6, FRG1B, FRG2C, GAB2, GAS2L1, GCN1L1, GDPD4, GLTSCR1, GNRH2, GOLGA6L2, GOLGA6L6, GPATCH4, GRIN3B, H6PD, HCG27, HLA-A, HLA-B, HLA-DQA1, HLA-DRB1, HLA-DRB5, HRCT1, HRNR, HS3ST6, HSH2D, HYDIN, IFNL4, IGHJ6, IGHV3-48, IGHV6-1, IGLV3-16, IGLV5-45, IL32, IQSEC1, ITIH5, KIAA1522, KIAA1683, KIR2DL1, KIR2DL4, KMT2E, KRT24, KRTAP10-1, KRTAP19-6, KRTAP2-4, KRTAP29-1, KRTAP4-7, LCA10, LEPREL2, LINC00955, MADCAM1, MAML3, MAPK7, MDK, MESP1, MICA, MMP28, MPND, MS4A14, MTPAP, MUC16, MUC19, MUC20, MUC4, MUC6, NCAM1, NCR3LG1, NLRC3, NOP16, OBP2A, OR10J4, OR11G2, OR13C2, OR13C5, OR2D3, OR2T12, OR2T35, OR2T4, OR2T7, OR4C5, OR4L1, OR4Q2, OR51F1, OR51I2, OR52A1, OR5K3, OR5K4, OR8U1, P2RX5, PABPC3, PCDHA4, PDE4DIP, PGPEP1L, PKD1L2, PNLIPRP2, PNPLA7, POLR1B, PRDM15, PRIM2, PRKRA, PRR14, PRR25, PRSS3, PRSS48, PSORS1C1, RAI1, RBMX, RIBC2, RP11-131H24.4, RP11-166B2.1, RP11-17M16.1, RP11-297N6.4, RP11-368I7.4, RP11-383H13.1, RP11-758M4.1, RYK, SARM1, SBK3, SCARF2, SCRN3, SHANK1, SIGLEC12, SIRPA, SIRPB1, SKA3, SLAIN1, SLC25A5, SLC41A3, SLC9B1, SON, SPATA4, SPZ1, SRA1, SRL, SRRM3, SRSF8, TAS2R43, TAS2R50, TCEAL6, TCP11, TGIF1, TIGD6, TMEM80, TP53I11, TPM2, TPSD1, TRAJ37, TRBV10-1, TRBV11-1, TRBV3-1, TRBV5-4, TRBV6-5, TRBV7-3, TSHZ1, TTC24, TTLL6, TVP23C, UBBP4, VCX, WNK1, ZFPM1, ZFYVE19, ZNF141, ZNF233, ZNF443, ZNF480, ZNF516, ZNF626, ZNF681, ZNF717, ZNF852,

+ Genes associated with diseases 27

Genes at Omim

A2ML1, ALG9, ASB10, ATP2B3, BCL11A, BCR, CCNK, CLEC1A, CYP2D6, FLG, H6PD, HLA-A, HLA-B, HLA-DQA1, HLA-DRB1, HYDIN, MTPAP, PRKRA, RAI1, RBMX, SCARF2, SON, TGIF1, TPM2, TSHZ1, WNK1, ZNF141,

A2ML1	{Otitis media, susceptibility to}, 166760 (3)
ALG9	Congenital disorder of glycosylation, type Il, 608776 (3) Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
ASB10	Glaucoma 1, open angle, F, 603383 (3)
ATP2B3	?Spinocerebellar ataxia, X-linked 1, 302500 (3)
BCL11A	Dias-Logan syndrome, 617101 (3)
BCR	Leukemia, acute lymphocytic, somatic, 613065 (3) Leukemia, chronic myeloid, somatic, 608232 (3)
CCNK	?Intellectual developmental disorder with hypertelorism and distinctive facies, 618147 (3)
CLEC1A	{Aspergillosis, susceptibility to}, 614079 (3)
CYP2D6	{Codeine sensitivity}, 608902 (3) {Debrisoquine sensitivity}, 608902 (3)
FLG	{Dermatitis, atopic, susceptibility to, 2}, 605803 (3) Ichthyosis vulgaris, 146700 (3)
H6PD	Cortisone reductase deficiency 1, 604931 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B	{Drug-induced liver injury due to flucloxacillin} (3) {Spondyloarthropathy, susceptibility to, 1}, 106300 (3) {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) {Synovitis, chronic, susceptibility to} (3) {Toxic epidermal necrolysis, susceptibility to}, 608579 (3) {Abacavir hypersensitivity, susceptibility to} (3)
HLA-DQA1	{Celiac disease, susceptibility to}, 212750 (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
MTPAP	?Spastic ataxia 4, autosomal recessive, 613672 (3)
PRKRA	Dystonia 16, 612067 (3)
RAI1	Smith-Magenis syndrome, 182290 (3)
RBMX	?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
SCARF2	Van den Ende-Gupta syndrome, 600920 (3)
SON	ZTTK syndrome, 617140 (3)
TGIF1	Holoprosencephaly 4, 142946 (3)
TPM2	Arthrogryposis multiplex congenita, distal, type 1, 108120 (3) Arthrogryposis, distal, type 2B, 601680 (3) CAP myopathy 2, 609285 (3) Nemaline myopathy 4, autosomal dominant, 609285 (3)
TSHZ1	Aural atresia, congenital, 607842 (3)
WNK1	Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) Pseudohypoaldosteronism, type IIC, 614492 (3)
ZNF141	?Polydactyly, postaxial, type A6, 615226 (3)

Genes at Clinical Genomics Database

ALG9, ATP2B3, BCL11A, BCR, CYP2D6, FLG, H6PD, HLA-A, HLA-B, MTPAP, PRKRA, RAI1, RBMX, SCARF2, TGIF1, TPM2, TSHZ1, WNK1, ZNF141, ZNF480,

ALG9	Congenital disorder of glycosylation, type Il
ATP2B3	Spinocerebellar ataxia, X-linked 1
BCL11A	Severe speech sound disorder
BCR	CML treatment, response to
CYP2D6	Drug metabolism, CYP2CD6-related
FLG	Icthyosis vulgaris
H6PD	Cortisone reductase deficiency
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to
MTPAP	Spastic ataxia 4, autosomal recessive
PRKRA	Dystonia 16
RAI1	Smith-Magenis syndrome
RBMX	Mental retardation, X-linked, syndromic 11, Shashi type
SCARF2	Van den Ende-Gupta syndrome
TGIF1	Holoprosencephaly 4
TPM2	Nemaline myopathy 4 CAP myopathy Arthrogryposis, distal, type 1A Arthrogryposis, distal, type 2B
TSHZ1	Aural atresia, congenital
WNK1	Pseudohypoaldosteronism, type IIC Neuropathy, hereditary sensory and autonomic, type IIA
ZNF141	Postaxial polydactyly type A, autosomal recessive
ZNF480	Schizophrenia

Genes at HGMD

Summary

Number of Variants: 392
Number of Genes: 233

Export to: CSV

Page 1 of 4
next

Page 1 of 4
next

H6PD
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	combined sample_47.variant11	1	rs139855605 dbSNP Clinvar	9304978	4733.41	CC...	C	PASS	0/1	143	FRAME_SHIFT	HIGH	None	0.10823	0.10820	0.09810				None None	None None None None	H6PD\|0.129103047\|46.01%
CASP9
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	combined sample_47.variant11	1	rs2234723,rs397776921 dbSNP Clinvar	15820307	660.28	A	AC	PASS	0/1	54	FRAME_SHIFT	HIGH	None	0.23582	0.23580					None None	None None None None	CASP9\|0.380237916\|22.03%
KIAA1522
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	combined sample_47.variant11	1	.	33236550	215.58	T	TC	PASS	0/1	102	FRAME_SHIFT	HIGH	None							None None	None None None None	KIAA1522\|0.033386063\|67.99%
HRNR
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	combined sample_47.variant11	1	.	152192101	49.14	ATC	A	DRAGENHardINDEL	0/1	399	FRAME_SHIFT	HIGH	None							None None	None None None None	HRNR\|0.000187528\|99.8%
	View	combined sample_47.variant11	1	rs760437151 dbSNP Clinvar	152185812	817.73	C	CAG	PASS	0/1	239	FRAME_SHIFT	HIGH	None							None None	None None None None	HRNR\|0.000187528\|99.8%
	View	combined sample_47.variant11	1	.	152192097	235.1	C	CGG	DRAGENHardINDEL	0/1	372	FRAME_SHIFT	HIGH	None							None None	None None None None	HRNR\|0.000187528\|99.8%
FLG
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	combined sample_47.variant11	1	rs770547637 dbSNP Clinvar	152284603	565.5	G	GCC	PASS	0/1	676	FRAME_SHIFT	HIGH	None							None None	None None None None	FLG\|0.000223203\|99.71%
	View	combined sample_47.variant11	1	rs759142251 dbSNP Clinvar	152284605	539.75	ATG	A	PASS	0/1	682	FRAME_SHIFT	HIGH	None							None None	None None None None	FLG\|0.000223203\|99.71%
OR10J4
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	combined sample_47.variant11	1	rs11419544,rs397744229 dbSNP Clinvar	159402584	4436.21	G	GT	PASS	1/1	121	FRAME_SHIFT	HIGH	None	0.90515	0.90520					None None	None None None None	None
AC096644.1
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	combined sample_47.variant11	1	rs10553491,rs67066512 dbSNP Clinvar	220603310	948.83	TGTGA	T	PASS	1/1	32	FRAME_SHIFT	HIGH	None							None None	None None None None	None
PDE4DIP
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	combined sample_47.variant11	1	rs11341221 dbSNP Clinvar	144873962	1440.02	CT	C	PASS	0/1	313	FRAME_SHIFT	HIGH	None	0.28914	0.28910	0.39100				None None	None None None None	PDE4DIP\|0.07469644\|56.36%
	View	combined sample_47.variant11	1	rs66512216 dbSNP Clinvar	144915623	403.0	AG	A	PASS	0/1	72	FRAME_SHIFT	HIGH	None			0.12828				None None	None None None None	PDE4DIP\|0.07469644\|56.36%
	View	combined sample_47.variant11	1	rs11295415,rs375854543 dbSNP Clinvar	144917827	82.25	CA	C	PASS	0/1	31	FRAME_SHIFT	HIGH	None	0.25579	0.25580	0.36421				None None	None None None None	PDE4DIP\|0.07469644\|56.36%
	View	combined sample_47.variant11	1	rs3215779,rs369106087 dbSNP Clinvar	144923728	1284.28	GT	G	PASS	0/1	207	FRAME_SHIFT	HIGH	None	0.18530	0.18530					None None	None None None None	PDE4DIP\|0.07469644\|56.36%
OR2T12
Omim - GeneCards - NCBI