PTH1R SNP variants

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samples Tabelle1

Variant ID	vf	Location	Chr: bp	vf_allele	Alleles	gmaf_allele	gmaf_freq	Global MAF	Class	Source	Evidence	Clin. Sig.	Conseq. Type	AA	AA coord	AA coord_1	sift_sort	sift_class	SIFT	polyphen_sort	polyphen_class	PolyPhen	cadd_sort	cadd_class	CADD	revel_sort	revel_class	REVEL	meta_lr_sort	meta_lr_class	MetaLR	mutation_assessor_sort	mutation_assessor_class	Mutation Assessor	Transcript
rs121434598_1	95524940	3:46902542	3:46902542	C	A/C			-	SNP	dbSNP	Frequency~Cited~Phenotype_or_Disease	pathogenic	missense variant	T/P	410	410	1	deleterious	0	1001	probably damaging	1	29001	likely benign	29	631	likely disease causing	63	341	tolerated	34	964	high	963	ENST00000313049.9
rs121434597_2	95524920	3:46898691	3:46898691	G	A/G			-	SNP	dbSNP	Frequency~Cited~Phenotype_or_Disease	pathogenic	missense variant	H/R	223	223	1	deleterious	0	977	probably damaging	976	27001	likely benign	27	685	likely disease causing	684	514	damaging	513	983	high	982	ENST00000313049.9
rs121434602_3	95525015	3:46902543	3:46902543	G	C/G/T			-	SNP	dbSNP	Frequency~Cited~Phenotype_or_Disease~ExAC~gnomAD	pathogenic	missense variant	T/R	410	410	11	deleterious	1	1001	probably damaging	1	28001	likely benign	28	503	likely disease causing	502	359	tolerated	358	982	high	981	ENST00000313049.9
rs121434599_4	95524956	3:46897936	3:46897936	T	C/T			-	SNP	dbSNP	Frequency~Cited~Phenotype_or_Disease	pathogenic	missense variant	P/L	132	132	1	deleterious	0	1001	probably damaging	1	27001	likely benign	27	886	likely disease causing	885	726	damaging	725	967	high	966	ENST00000313049.9
rs398122843_5	98780067	3:46901797	3:46901797	A	G/A			-	SNP	dbSNP	Frequency~Cited~Phenotype_or_Disease~gnomAD	pathogenic	missense variant	R/Q	383	383	1	deleterious	0	1001	probably damaging	1	34001	likely deleterious	34	602	likely disease causing	601	307	tolerated	306	854	medium	853	ENST00000313049.9
rs121434605_6	95525085	3:46898112	3:46898112	A	G/A/T			-	SNP	dbSNP	Frequency~Cited~Phenotype_or_Disease~ExAC~gnomAD	pathogenic	missense variant	E/K	155	155	181	tolerated	18	316	benign	315	23001	likely benign	23	262	likely benign	261	217	tolerated	216	684	medium	683	ENST00000313049.9
rs769180471_7	119775971	3:46898445	3:46898445	A	T/A/C			-	SNP	dbSNP	Frequency~Phenotype_or_Disease~ExAC~gnomAD	pathogenic	missense variant	V/E	204	204	1	deleterious	0	993	probably damaging	992	28001	likely benign	28	587	likely disease causing	586	364	tolerated	363	889	medium	888	ENST00000313049.9
rs121434600_8	95524978	3:46902768	3:46902768	G	T/G			-	SNP	dbSNP	Frequency~Cited~Phenotype_or_Disease	pathogenic	missense variant	I/R	458	458	1	deleterious	0	991	probably damaging	99	31001	likely deleterious	31	635	likely disease causing	634	461	tolerated	46	801	medium	8	ENST00000313049.9