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
RS2151047525 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2151047618 BBS4 Health Risk Likely pathogenic Retinitis pigmentosa, Bardet-Biedl syndrome 4
RS2151047655 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS2151047692 PIGQ Health Risk Likely pathogenic Epilepsy, Epilepsy
RS2151048301 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2151049015 ADGRV1 Health Risk Pathogenic —
RS2151049768 ADGRV1 Health Risk Pathogenic —
RS2151049870 ADGRV1 Health Risk Likely pathogenic —
RS2151055229 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS2151056579 RPGRIP1L Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151057083 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2151058791 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151059839 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2151060021 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151060082 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151060146 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2151060257 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2151060309 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2151061858 TSC2 Health Risk Pathogenic Lymphangiomyomatosis, Lymphangiomyomatosis
RS2151062416 CORO1A Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CORO1A deficiency, Autism spectrum disorder
RS2151063096 CORO1A Health Risk Pathogenic Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
RS2151063274 CORO1A Health Risk Likely pathogenic Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
RS2151063606 CORO1A Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS2151069014 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151070794 LHFPL5 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67
RS2151070992 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151078845 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2151078913 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151079297 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151080318 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151081778 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151081990 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151082372 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2151087352 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151088094 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151092282 TUBB3 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS2151092293 TUBB3 Health Risk Likely pathogenic —
RS2151092738 TUBB3 Health Risk Likely pathogenic —
RS2151092804 TUBB3 Health Risk Likely pathogenic Abnormal cerebral morphology, Abnormal cerebral morphology
RS2151092918 TUBB3 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS2151092961 TUBB3 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS2151092964 TUBB3 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS2151093027 TUBB3 Health Risk Conflicting classifications of pathogenicity —
RS2151093952 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2151094080 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B
RS2151094378 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B
RS2151094398 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2151094540 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2151094632 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2151094729 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B
RS2151095155 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2151096983 CHRNE Health Risk Conflicting classifications of pathogenicity Abnormality of the musculature, Congenital myasthenic syndrome 4A
RS2151097082 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2151097188 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2151097209 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2151097217 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2151097307 C17orf107;CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2151097420 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2151097489 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 4C
RS2151097742 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2151098283 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS2151098295 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2151098410 CHRNE Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
RS2151098412 C17orf107;CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2151098538 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2151098864 CHRNE Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2151098905 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2151098928 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B
RS2151099050 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2151099353 CPLANE1 Health Risk Pathogenic —
RS2151100918 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2151101668 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2151102253 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151102857 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2151105953 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2151107661 GP1BA Health Risk Pathogenic Bernard-Soulier syndrome, type A2
RS2151107674 GP1BA Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2151107696 GP1BA Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2151107705 GP1BA Health Risk Likely pathogenic Bernard-Soulier syndrome, type A2
RS2151107825 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2151107940 GP1BA Health Risk Pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2151107964 GP1BA Health Risk Pathogenic Pseudo von Willebrand disease, Pseudo von Willebrand disease
RS2151108081 TSC2 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151108281 TCOF1 Health Risk Pathogenic/Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2151108313 GP1BA Health Risk Likely pathogenic —
RS2151108403 GP1BA Health Risk Pathogenic Pseudo von Willebrand disease, Pseudo von Willebrand disease
RS2151108410 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2151108738 GP1BA Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS2151108833 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2151108913 PRPF8 Health Risk Pathogenic —
RS2151110209 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2151114374 PRPF8 Health Risk Likely pathogenic —
RS2151115927 SLX4 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2151116570 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151116816 SLX4 Health Risk Pathogenic —
RS2151116846 PRPF8 Health Risk Pathogenic PRPF8-related disorder, PRPF8-related disorder
RS2151120967 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151122078 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151123189 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151123420 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
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