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:
ABCA2, ALDH1B1, ANKRD18B, BRD3, C9orf172, C9orf62, CACNA1B, CBWD6, CCL27, COL27A1, EGFL7, EXD3, FGD3, FOCAD, FOXE1, GALT, GBGT1, GKAP1, LPAR1, LRRC8A, MED27, NANS, NDOR1, NPDC1, PRKACG, RASEF, RGP1, SETX, SMARCA2, SPIN1, SVEP1, TNC, VPS13A,

+ Genes associated with diseases 11

Genes at Omim

CACNA1B, COL27A1, FOXE1, GALT, LRRC8A, NANS, PRKACG, SETX, SMARCA2, TNC, VPS13A,

CACNA1B	?Dystonia 23, 614860 (3)
COL27A1	Steel syndrome, 615155 (3)
FOXE1	Bamforth-Lazarus syndrome, 241850 (3) {Thyroid cancer, nonmedullary, 4}, 616534 (3)
GALT	Galactosemia, 230400 (3)
LRRC8A	?Agammaglobulinemia 5, 613506 (3)
NANS	Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3)
PRKACG	?Bleeding disorder, platelet-type, 19, 616176 (3)
SETX	Amyotrophic lateral sclerosis 4, juvenile, 602433 (3) Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
SMARCA2	Nicolaides-Baraitser syndrome, 601358 (3)
TNC	Deafness, autosomal dominant 56, 615629 (3)
VPS13A	Choreoacanthocytosis, 200150 (3)

Genes at Clinical Genomics Database

CACNA1B, COL27A1, FOXE1, GALT, LRRC8A, PRKACG, SETX, SMARCA2, TNC, VPS13A,

CACNA1B	Dystonia 23
COL27A1	Steel syndrome
FOXE1	Thyroid cancer, nonmedullary 4 Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome) Congenital hypothyroidism
GALT	Galactosemia
LRRC8A	Agammaglobulinemia 5
PRKACG	Bleeding disorder, platelet-type, 19
SETX	Spinocerebellar ataxia, autosomal recessive 1 Amyotrophic lateral sclerosis 4, juvenile Ataxia with oculomotor apraxia, type 2
SMARCA2	Nicolaides-Baraitser syndrome
TNC	Deafness, autosomal dominant 56
VPS13A	Choreoacanthocytosis

Genes at HGMD

Summary

Number of Variants: 141
Number of Genes: 33

Export to: CSV

Page 1 of 2
next

Page 1 of 2
next

ABCA2
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	eb1954_unique	9	rs372488285 dbSNP Clinvar	139903021	559.18	C	T	PASS	0/1	73	SYNONYMOUS_CODING	LOW	None			0.00008				None None	None None None None	ABCA2\|0.074227496\|56.47%
ALDH1B1
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	eb1954_unique	9	.	38395849	2469.18	C	T	PASS	0/1	194	NON_SYNONYMOUS_CODING	MODERATE	None				0.27	0.00	-0.69	0.00 0.12218 T	None None None None	ALDH1B1\|0.096225216\|51.9%
ANKRD18B
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	eb1954_unique	9	.	33567261	1013.18	C	T	PASS	0/1	117	NON_SYNONYMOUS_CODING	MODERATE	None				0.12	0.31	2.57	0.01 0.26701 T	None None None None	ANKRD18B\|0.001295646\|93.93%
BRD3
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	eb1954_unique	9	rs199545411 dbSNP Clinvar	136905284	1374.18	C	G	PASS	0/1	120	NON_SYNONYMOUS_CODING	MODERATE	None				0.45	0.00	-0.12	0.02 0.3879 T	None None None None	BRD3\|0.108368545\|49.49%
C9orf172
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	eb1954_unique	9	rs112144236 dbSNP Clinvar	139740734	45.11	C	A	PASS	0/1	14	NON_SYNONYMOUS_CODING	MODERATE	None				0.55	0.04	-0.69	None None	None None None None	C9orf172\|0.015366861\|76.9%
C9orf62
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	eb1954_unique	9	.	138235983	1692.18	A	G	PASS	0/1	166	SYNONYMOUS_CODING	LOW	None							None None	None None None None	C9orf62\|0.000423696\|98.81%
CACNA1B
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	eb1954_unique	9	rs2229950 dbSNP Clinvar	140952690	1070.18	G	A	PASS	0/1	112	SYNONYMOUS_CODING	LOW	None	0.19968	0.19970	0.14136				None None	None None None None	CACNA1B\|0.168604934\|40.5%
	View	eb1954_unique	9	rs757235316 dbSNP Clinvar	140772403	197.55	C	T	VQSRTrancheSNP99.00to99.90	0/1	43	SYNONYMOUS_CODING	LOW	None							None None	None None None None	CACNA1B\|0.168604934\|40.5%
CBWD6
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	eb1954_unique	9	rs113407575 dbSNP Clinvar	69256833	4112.87	A	G	VQSRTrancheSNP99.00to99.90	1/1	15	NON_SYNONYMOUS_CODING	MODERATE	None	0.12320	0.12320	0.09472	0.06	1.00		None None	None None None None	CBWD6\|0.011508605\|79.59%
CCL27
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	eb1954_unique	9	rs34352067 dbSNP Clinvar	34661980	1735.18	C	T	PASS	0/1	157	SYNONYMOUS_CODING	LOW	None	0.04892	0.04892	0.04337				None None	None None None None	CCL27\|0.04854809\|63.08%
COL27A1
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