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

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CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

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Genes:
ALLC, ANKRD31, APOBEC3H, AR, ARHGEF40, ATF7IP2, ATXN2, AXIN2, C1orf173, C4orf17, C6orf132, CCDC34, CCDC9, CDKN2AIP, CEP68, CLIC6, COBL, COL18A1, CREB3L2, DCP1A, DEFB132, DMKN, ENAH, FAM109A, FAM174B, FAM230A, FAM46A, FAM71E2, FIGF, FMN2, FNDC1, FOXD4L5, GFM2, GOLGA6L2, GPR50, GPRIN1, GPSM2, GSE1, HAVCR1, HOMEZ, HOXA1, HTT, IRF2BPL, IRF5, IST1, ITPKB, KANK3, KCNA7, KIF1A, KLRF1, KRTAP5-5, LRRC49, MAFA, MAGEA4, MAP3K4, MEA1, MESP2, MEX3C, MRPL18, MUC20, NCOA3, NRD1, NUMBL, OR14A16, OR2A14, OR4C3, OR5H6, ORAI1, PCDHAC2, PELP1, PHLDA1, PHRF1, POLI, PRKCSH, PRUNE2, PTPRZ1, RAI1, RGPD1, RIC8A, RIN3, RPL29, RYR3, SEC31A, SIRPA, SMARCA2, SMPD1, SPATA3, SRRD, SSSCA1, SYNPO2, TAF9, TBP, TCERG1, TMC3, TMPRSS13, TRAV29DV5, TRIM52, TRIOBP, TROAP, TULP1, UBXN11, URI1, VEGFC, VSIG10, WWC1, YEATS2, ZCCHC3, ZFHX4, ZFPM1, ZNF2, ZNF384, ZNF787,

+ Genes associated with diseases 24

Genes at Omim

AR, ATXN2, AXIN2, COL18A1, FMN2, GPSM2, HOXA1, HTT, IRF2BPL, IRF5, KIF1A, MAFA, MESP2, ORAI1, PRKCSH, RAI1, SMARCA2, SMPD1, TBP, TRIOBP, TULP1, VEGFC, WWC1, ZFHX4,

AR	Androgen insensitivity, 300068 (3) Androgen insensitivity, partial, with or without breast cancer, 312300 (3) {Prostate cancer, susceptibility to}, 176807 (3) Hypospadias 1, X-linked, 300633 (3) Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)
ATXN2	{Parkinson disease, late-onset, susceptibility to}, 168600 (3) Spinocerebellar ataxia 2, 183090 (3) {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
AXIN2	Colorectal cancer, somatic, 114500 (3) Oligodontia-colorectal cancer syndrome, 608615 (3)
COL18A1	Knobloch syndrome, type 1, 267750 (3)
FMN2	Mental retardation, autosomal recessive 47, 616193 (3)
GPSM2	Chudley-McCullough syndrome, 604213 (3)
HOXA1	Athabaskan brainstem dysgenesis syndrome, 601536 (3) Bosley-Salih-Alorainy syndrome, 601536 (3)
HTT	Huntington disease, 143100 (3) Lopes-Maciel-Rodan syndrome, 617435 (3)
IRF2BPL	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
IRF5	{Inflammatory bowel disease 14}, 612245 (3) {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
KIF1A	Mental retardation, autosomal dominant 9, 614255 (3) Neuropathy, hereditary sensory, type IIC, 614213 (3) Spastic paraplegia 30, autosomal recessive, 610357 (3)
MAFA	Insulinomatosis and diabetes mellitus, 147630 (3)
MESP2	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
ORAI1	Immunodeficiency 9, 612782 (3) Myopathy, tubular aggregate, 2, 615883 (3)
PRKCSH	Polycystic liver disease 1, 174050 (3)
RAI1	Smith-Magenis syndrome, 182290 (3)
SMARCA2	Nicolaides-Baraitser syndrome, 601358 (3)
SMPD1	Niemann-Pick disease, type A, 257200 (3) Niemann-Pick disease, type B, 607616 (3)
TBP	{Parkinson disease, susceptibility to}, 168600 (3) Spinocerebellar ataxia 17, 607136 (3)
TRIOBP	Deafness, autosomal recessive 28, 609823 (3)
TULP1	Leber congenital amaurosis 15, 613843 (3) Retinitis pigmentosa 14, 600132 (3)
VEGFC	Lymphatic malformation 4, 615907 (3)
WWC1	[Memory, enhanced, QTL], 615602 (3)
ZFHX4	?Ptosis, congenital, 178300 (2)

Genes at Clinical Genomics Database

AR, ATXN2, AXIN2, COL18A1, FMN2, GPSM2, HOXA1, HTT, KIF1A, MESP2, ORAI1, PRKCSH, RAI1, SMARCA2, SMPD1, TBP, TRIOBP, TULP1, VEGFC,

AR	Androgen insensitivity Androgen insensitivity, partial
ATXN2	Spinocerebellar ataxia 2
AXIN2	Oligodontia-colorectal cancer syndrome
COL18A1	Knobloch syndrome 1
FMN2	Mental retardation, autosomal recessive, 47
GPSM2	Chudley-McCullough syndrome Deafness, autosomal recessive 82
HOXA1	Athabaskan brainstem dysgenesis syndrome Bosley-Salih-Alorainy syndrome
HTT	Huntington disease
KIF1A	Mental retardation, autosomal dominant 9 Neuropathy, hereditary sensory, type IIC Spastic paraplegia 30, autosomal recessive
MESP2	Spondylocostal dysostosis 2, autosomal recessive
ORAI1	Immunodeficiency 9
PRKCSH	Polycystic liver disease
RAI1	Smith-Magenis syndrome
SMARCA2	Nicolaides-Baraitser syndrome
SMPD1	Niemann-Pick disease, type A Niemann-Pick disease, type B
TBP	Spinocerebellar ataxia 17
TRIOBP	Deafness, autosomal recessive 28
TULP1	Leber congenital amaurosis 15 Retinitis pigmentosa 14
VEGFC	Lymphedema, hereditary, ID

Genes at HGMD

Summary

Number of Variants: 118
Number of Genes: 112

Export to: CSV

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ALLC
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	snps raw-variants selected 3403_16	2	rs66473381,rs759577715,rs796898978,rs201406139,rs34308920 dbSNP Clinvar	3749151	12379.9	GGAA	G	PASS	1/1	90	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.41194	0.41190	0.49313				None None	None None None None	ALLC\|0.091233568\|52.99%
ANKRD31
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	snps raw-variants selected 3403_16	5	rs10563854,rs796339850 dbSNP Clinvar	74491715	28061.3	TTCA	T	PASS	1/1	128	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.58147	0.58150	0.49535				None None	None None None None	ANKRD31\|0.011398689\|79.69%
APOBEC3H
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	snps raw-variants selected 3403_16	22	rs140936762,rs201177427,rs139292 dbSNP Clinvar	39496322	4473.86	TAAC	T	PASS	0/1	49	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.31749	0.31750	0.32481				None None	None None None None	APOBEC3H\|0.000715686\|97.18%
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	snps raw-variants selected 3403_16	X	rs745982326 dbSNP Clinvar	66765158	9646.29	TG...	TG...	PASS	0/2	89	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	AR\|0.999436019\|0.35%
ARHGEF40
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	snps raw-variants selected 3403_16	14	rs377320500 dbSNP Clinvar	21542955	20264.9	AG...	A	PASS	0/1	133	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.00080	0.00659	0.01263				None None	None None None None	ARHGEF40\|0.101019692\|50.98%
ATF7IP2
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	snps raw-variants selected 3403_16	16	rs56252625,rs113642662,rs571414967 dbSNP Clinvar	10524656	9638.9	GGAC	G	PASS	0/1	120	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.60324	0.60320	0.41109				None None	None None None None	ATF7IP2\|0.022985481\|72.74%
ATXN2
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	snps raw-variants selected 3403_16	12	rs10560189,rs67658094 dbSNP Clinvar	112036753	825.87	GGCT	G	PASS	1/1	3	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.95108	0.95110	0.09190				None None	None None None None	ATXN2\|0.872313714\|4.16%
AXIN2
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	snps raw-variants selected 3403_16	17	rs151279728 dbSNP Clinvar	63532554	5820.86	AC...	A	PASS	0/1	36	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.02177	0.02177	0.03425				None None	None None None None	AXIN2\|0.837375797\|4.92%
C1orf173
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	snps raw-variants selected 3403_16	1	rs10539747 dbSNP Clinvar	75037857	2780.86	CCCT	C	PASS	0/1	55	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.12360	0.12360	0.08147				None None	None None None None	ERICH3\|0.0119525\|79.27%
C4orf17
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	snps raw-variants selected 3403_16	4	.	100451038	7824.86	TC...	T	PASS	0/1	101	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None			0.02325				None None	None None None None	C4orf17\|0.007285279\|83.23%