Folate PolyPHEN-SIFT Prediction Data

‹ Prev

rs ID	Chromosome	Start	End	Nucleotide	Function	Region	Clinical Significance	Disease	SIFT Score	SIFT Prediction	PolyPHEN Score	PolyPhen Prediction	MAF	Gene Symbol
rs2032582	chr 7	87160617	87160618	A > T	missense	nonsynonymous SNV	non-pathogenic	not_specified,not_specified	0.03	Deleterious	0.001	Benign	0.054	ABCB1
rs2032582	chr 7	87160617	87160618	A > C	missense	nonsynonymous SNV	non-pathogenic	not_specified,not_specified	1	Tolerated	0	Benign	0.97	ABCB1
rs140176911	chr 1	115220522	115220523	C > T	intron		non-pathogenic	not_specified	0		0		0.09	AMPD1
rs34526199	chr 1	115222236	115222237	T > A	missense	nonsynonymous SNV	pathogenic	Muscle_AMP_deaminase_deficiency	0	Deleterious	1	Probably Damaging	0.05	AMPD1
rs6683173	chr 1	115231171	115231172	C > T	intron		non-pathogenic	not_specified	0		0		0.1	AMPD1
rs61752479	chr 1	115231253	115231254	G > A	missense	nonsynonymous SNV	pathogenic	not_provided	0	Deleterious	1	Probably Damaging	0.13	AMPD1
rs17602729	chr 1	115236056	115236057	G > A	intron,nonsense	stopgain	pathogenic	Muscle_AMP_deaminase_deficiency	0		0		0.13	AMPD1
rs2227289	chr 19	8367358	8367359	G > C	coding-synon	synonymous SNV	non-pathogenic	not_provided	0	Deleterious	0		0.33	CD320
rs250511	chr 19	8367503	8367504	T > A	intron		non-pathogenic	not_provided	0		0		0.14	CD320
rs2336573	chr 19	8367708	8367709	C > T	missense	nonsynonymous SNV	non-pathogenic	not_provided	0.06	Tolerated	0.589	Possibly Damaging	0.33	CD320
rs2232784	chr 19	8368757	8368758	G > A	coding-synon	synonymous SNV	non-pathogenic	not_provided	0		0		0.33	CD320
rs2232783	chr 19	8368793	8368794	C > A	coding-synon	synonymous SNV	non-pathogenic	not_provided	0		0		0.33	CD320
rs2232780	chr 19	8369895	8369896	A > C	intron		non-pathogenic	not_provided	0		0		0.33	CD320
rs2232776	chr 19	8373022	8373023	C > G	intron		non-pathogenic	not_provided	0		0		0.33	CD320
rs2232775	chr 19	8373151	8373152	T > C	missense	nonsynonymous SNV	non-pathogenic	not_provided	1	Tolerated	0	Benign	0.45	CD320
rs2232773	chr 19	8373175	8373176	C > T	untranslated-5		non-pathogenic	not_provided	0		0		0.33	CD320
rs1801181	chr 21	44480615	44480616	G > A	coding-synon	synonymous SNV	non-pathogenic	not_specified	0		0		0.58	CBS
rs75616587	chr 21	44483199	44483200	G > A	intron		non-pathogenic	not_provided	0		0		0.05	CBS
rs234706	chr 21	44485349	44485350	G > A	coding-synon	synonymous SNV	non-pathogenic	not_specified	0		0		0.34	CBS
rs34040148	chr 21	44488630	44488631	T > G	missense	nonsynonymous SNV	non-pathogenic	not_provided	0.18	Tolerated	0.556	Possibly Damaging	0.05	CBS
rs2228613	chr 19	10265592	10265593	G > T	coding-synon,mi	synonymous SNV	non-pathogenic	not_provided	0		0		0.093	DNMT1
rs2228613	chr 19	10265592	10265593	G > C	coding-synon,mi	nonsynonymous SNV	non-pathogenic	not_provided	0.01	Deleterious	0.966	Probably Damaging	0	DNMT1
rs2228612	chr 19	10273371	10273372	T > G	missense	nonsynonymous SNV	non-pathogenic	not_provided	0.31	Tolerated	0.001	Benign	0	DNMT1
rs2228612	chr 19	10273371	10273372	T > C	missense	nonsynonymous SNV	non-pathogenic	not_provided	0.31	Tolerated	0	Benign	0.39	DNMT1
rs2228612	chr 19	10273371	10273372	T > A	missense	nonsynonymous SNV	non-pathogenic	not_provided	0.06	Tolerated	0.091	Benign	0	DNMT1
rs79622089	chr 21	47556881	47556882	G > A	intron,untransl		non-pathogenic	not_specified	0	Deleterious	0.001	Benign	0.095	FTCD
rs1047179	chr 21	47558472	47558473	G > C	coding-synon	synonymous SNV	non-pathogenic	not_specified	0		0	Benign	0.63	FTCD
rs61735841	chr 21	47558551	47558552	G > A	missense	nonsynonymous SNV	non-pathogenic	not_specified	0.17	Tolerated	0.281	Benign	0.1	FTCD
rs61729391	chr 21	47571844	47571845	C > T	coding-synon	synonymous SNV	non-pathogenic	not_specified	0		0		0.098	FTCD
rs2277820	chr 21	47575371	47575372	C > T	intron		non-pathogenic	not_specified	0		0		0.8	FTCD
rs35477493	chr 15	65295504	65295505	C > T	coding-synon	synonymous SNV	non-pathogenic	not_provided	0		0		0.04	MTFMT
rs34636936	chr 15	65297260	65297261	C > T	coding-synon	synonymous SNV	non-pathogenic	not_provided	0		0		0.03	MTFMT
rs2946655	chr 15	65321937	65321938	A > G	missense	nonsynonymous SNV	non-pathogenic	not_provided	0.31	Tolerated	0	Benign	0.15	MTFMT
rs1127354	chr 20	3193841	3193842	C > A	intron,ncRNA,mi	nonsynonymous SNV	pathogenic	Inosine_triphosphatase_deficiency	0.32	Tolerated	0.791	Possibly Damaging	0.13	ITPA
rs1127354	chr 20	3193841	3193842	C > G	intron,ncRNA,mi	nonsynonymous SNV	pathogenic	Inosine_triphosphatase_deficiency	0.45	Tolerated	0.414	Benign	0	ITPA
rs1127354	chr 20	3193841	3193842	C > T	intron,ncRNA,mi	nonsynonymous SNV	pathogenic	Inosine_triphosphatase_deficiency	0.45	Tolerated	0.303	Benign	0	ITPA
rs7270101	chr 20	3193892	3193893	A > C	intron		pathogenic	Inosine_triphosphatase_deficiency	0		0		0.13	ITPA
rs4846051	chr 1	11854456	11854457	G > A	coding-synon	synonymous SNV	non-pathogenic	not_specified	0		0		1	MTHFR
rs1801131	chr 1	11854475	11854476	T > G	missense	nonsynonymous SNV	non-pathogenic	MTHFR_deficiencyx2c_thermolabile_type	0.18	Tolerated	0.462	Possibly Damaging	0.32	MTHFR
rs1801133	chr 1	11856377	11856378	G > A	missense	nonsynonymous SNV	non-pathogenic	MTHFR_deficiencyx2c_thermolabile_type	0.05	Deleterious	0.999	Probably Damaging	0.49	MTHFR
rs1131449	chr 1	237058827	237058828	C > G	coding-synon	synonymous SNV	non-pathogenic	not_provided	0		0		0	MTR
rs1131449	chr 1	237058827	237058828	C > T	coding-synon	synonymous SNV	non-pathogenic	not_provided	0		0		0.59	MTR
rs12022937	chr 1	237060849	237060850	T > C	intron		non-pathogenic	not_provided	0		0		0.4	MTR
rs7526063	chr 1	236971997	236971998	C > T	intron		non-pathogenic	not_provided	0		0		0.14	MTR
rs1770449	chr 1	237038160	237038161	T > C	intron		non-pathogenic	not_provided	0		0		0.42	MTR
rs1805087	chr 1	237048499	237048500	A > G	missense	nonsynonymous SNV	non-pathogenic	not_provided	0.04	Deleterious	0.586	Possibly Damaging	0.31	MTR
rs2229276	chr 1	237054568	237054569	A > G	coding-synon	synonymous SNV	non-pathogenic	not_provided	0		0		0.46	MTR
rs12070777	chr 1	237058743	237058744	C > A	coding-synon	synonymous SNV	non-pathogenic	not_provided	0		0		0.45	MTR
rs3820571	chr 1	237060432	237060433	G > T	intron		non-pathogenic	not_provided	0		0		0.9	MTR
rs72716536	chr 5	7869234	7869235	T > C	near-gene-5,unt		non-pathogenic	not_provided	0		0		0.33	MTRR

‹ Prev

Next ›