Mendel,MD | Dashboard

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

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

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

Genes:
CDC27, FLNA, PDIA3, TMEM230,

FLNA,

FLNA	Cardiac valvular dysplasia, X-linked, 314400 (3) Congenital short bowel syndrome, 300048 (3) Frontometaphyseal dysplasia 1, 305620 (3) Heterotopia, periventricular, 1, 300049 (3) Intestinal pseudoobstruction, neuronal, 300048 (3) Melnick-Needles syndrome, 309350 (3) Otopalatodigital syndrome, type I, 311300 (3) Otopalatodigital syndrome, type II, 304120 (3) Terminal osseous dysplasia, 300244 (3) ?FG syndrome 2, 300321 (3)

FLNA,

FLNA	Cardiac valvular dysplasia, X-linked Heterotopia, periventricular, Ehlers-Danlos variant Intestinal pseudoobstruction, neuronal, X-linked/Congenital short bowel syndrome

Number of Variants: 4
Number of Genes: 4

Export to: CSV

CDC27
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	44_s44	17	rs62077264 dbSNP Clinvar	45234360	14.86	A	C	LowGQX;LowGQ	1/1	2	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	CDC27\|0.658499283\|9.78%
FLNA
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	44_s44	X	.	153592680	11.01	A	T	LowGQX;LowGQ	1/1	1	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH					0.00	0.77		None None	None None None None	FLNA\|0.71803245\|8.01%
PDIA3
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	44_s44	15	.	44061823	11.01	G	A	LowGQX;LowGQ	1/1	1	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	PDIA3\|0.596533201\|11.89%
TMEM230
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	44_s44	20	.	5092174	5.06	G	C	LowGQX;LowGQ	1/1	2	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	TMEM230\|0.201207193\|36.62%

Some information about this general settings option

Other sets of options are available

Allow the user to show his name in blog posts