SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1555498118 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1555498120 USB1 Health Risk Likely pathogenic Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS1555498129 USB1 Health Risk Pathogenic Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS1555498221 TSC2 Health Risk Pathogenic —
RS1555498399 USB1 Health Risk Pathogenic Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS1555498563 USB1 Health Risk Conflicting classifications of pathogenicity Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS1555498565 USB1 Health Risk Pathogenic Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS1555498573 USB1 Health Risk Pathogenic Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS1555498800 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555498820 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555499119 TSC2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555499123 SLC12A3 Health Risk Pathogenic —
RS1555499151 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1555499234 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1555499768 GNAO1 Health Risk Likely pathogenic —
RS1555499769 GNAO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1555499800 GNAO1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 17
RS1555500356 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, Rheumatoid arthritis
RS1555500535 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555500560 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555500581 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1555500988 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555501030 ADAMTS17 Health Risk Pathogenic Weill-Marchesani 4 syndrome, recessive
RS1555501093 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555501140 TBC1D24 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS1555501320 TBC1D24 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS1555501373 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555501389 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555501437 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1555501456 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS1555501632 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1555501694 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555502518 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555502530 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555502574 PRRT2 Health Risk Likely pathogenic —
RS1555502589 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS1555502624 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1555502665 PRRT2 Health Risk Likely pathogenic Infantile convulsions and choreoathetosis, Infantile convulsions and choreoathetosis
RS1555502708 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia 1
RS1555502908 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1555503131 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555503254 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1555504716 EARS2 Health Risk Likely pathogenic —
RS1555505094 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555505103 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555505128 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555505208 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555505211 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555505742 TSC2 Health Risk Pathogenic —
RS1555505954 TSC2 Health Risk Pathogenic —
RS1555506150 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555506201 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555506395 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555506428 TSC2 Health Risk Pathogenic —
RS1555506453 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555506557 TSC2 Health Risk Pathogenic —
RS1555506740 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555506823 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555506829 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1555506986 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555507383 GNAO1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555507411 CIITA Health Risk Pathogenic MHC class II deficiency 1, MHC class II deficiency 1
RS1555507462 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555507477 GNAO1 Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1555507479 GNAO1 Health Risk Likely pathogenic Neurodevelopmental disorder with involuntary movements, Neurodevelopmental disorder with involuntary movements
RS1555507504 TSC2 Health Risk Likely pathogenic —
RS1555507612 TSC2 Health Risk Pathogenic —
RS1555507623 TSC2 Health Risk Pathogenic —
RS1555507893 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555507903 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555507925 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555507927 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555508316 GNAO1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 17
RS1555508569 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555508570 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1555508604 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555508630 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555508917 TSC2 Health Risk Pathogenic —
RS1555508929 TSC2 Health Risk Pathogenic/Likely pathogenic Bone osteosarcoma, Tuberous sclerosis 2
RS1555508938 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555509499 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS1555509569 FUS Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 6, Tremor
RS1555509605 FUS Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 6, Tremor
RS1555509609 FUS Health Risk Pathogenic Amyotrophic lateral sclerosis type 6, Amyotrophic lateral sclerosis type 6
RS1555509622 CDH1 Health Risk Pathogenic/Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555509623 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555509636 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555509646 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555509656 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555509693 FUS Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 6, Tremor
RS1555509699 FUS Health Risk Likely pathogenic Tremor, hereditary essential
RS1555509751 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555509771 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555509773 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555509780 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555510028 CACNA1H Health Risk Likely pathogenic —
RS1555510299 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555510519 TSC2 Health Risk Likely pathogenic —
RS1555510579 TSC2 Health Risk Pathogenic —
RS1555510754 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
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