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
RS2148708041 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148708928 SPAST Health Risk Pathogenic —
RS2148708949 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148710558 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148710617 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148711374 AGO1 Health Risk Likely pathogenic Intellectual disability, Neurodevelopmental disorder with language delay and behavioral abnormalities
RS2148711383 AGO1 Health Risk Likely pathogenic Intellectual disability, Neurodevelopmental disorder with language delay and behavioral abnormalities
RS2148715376 AGO1 Health Risk Pathogenic/Likely pathogenic AGO1-related disorder, Intellectual disability
RS2148719433 ANKRD17 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2148719956 ANKRD17 Health Risk Likely pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS2148721126 ANKRD17 Health Risk Pathogenic/Likely pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS2148721365 ASH1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 52
RS2148721714 ASH1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 52
RS2148721833 RPS6KA3 Health Risk Likely pathogenic Intellectual disability, X-linked 19
RS2148721855 RPS6KA3 Health Risk Likely pathogenic See cases, See cases
RS2148721928 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS2148721944 RPS6KA3 Health Risk Pathogenic Intellectual disability, X-linked 19
RS2148722723 LPIN1 Health Risk Pathogenic —
RS2148722783 LPIN1 Health Risk Likely pathogenic —
RS2148723294 ATP11C Health Risk Pathogenic X-linked congenital hemolytic anemia, Nonpapillary renal cell carcinoma
RS2148724390 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2148725560 AGO1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2148725649 ASH1L Health Risk Pathogenic —
RS2148725999 AGO1 Health Risk Conflicting classifications of pathogenicity AGO1-related Intellectual disability, AGO1-related Intellectual disability
RS2148726029 AGO1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2148727707 ASH1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 52
RS2148727943 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2148732123 RPS6KA3 Health Risk Likely pathogenic —
RS2148732436 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148732461 ASH1L Health Risk Pathogenic —
RS2148732716 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148732927 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148732951 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148733074 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148733110 SPAST Health Risk Pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2148733237 SPEN Health Risk Pathogenic —
RS2148733515 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148734025 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS2148734097 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148734189 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148734269 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148734459 INTU Health Risk Pathogenic Short-rib thoracic dysplasia 20 with polydactyly, Orofaciodigital syndrome 17
RS2148734462 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148734474 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148734527 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148734539 SPAST Health Risk Pathogenic —
RS2148734579 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148734583 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148734593 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2148734605 SPAST Health Risk Likely pathogenic —
RS2148734626 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148735901 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2148737783 SPEN Health Risk Pathogenic —
RS2148737840 SPEN Health Risk Conflicting classifications of pathogenicity Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2148737960 SPEN Health Risk Pathogenic —
RS2148738318 SPEN Health Risk Likely pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2148738489 SPEN Health Risk Pathogenic —
RS2148738538 SPEN Health Risk Pathogenic —
RS2148738629 SPEN Health Risk Pathogenic —
RS2148739141 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2148739431 SPEN Health Risk Pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2148739946 SPEN Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2148740239 SPEN Health Risk Pathogenic —
RS2148740737 SPEN Health Risk Likely pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2148740780 SPEN Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2148740878 SPEN Health Risk Pathogenic/Likely pathogenic Radio-Tartaglia syndrome, Encephalopathy
RS2148741007 SPEN Health Risk Pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2148741011 SPEN Health Risk Conflicting classifications of pathogenicity Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2148741116 SPEN Health Risk Pathogenic —
RS2148741262 SPEN Health Risk Pathogenic —
RS2148741614 SPEN Health Risk Pathogenic —
RS2148741741 SPEN Health Risk Pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2148741876 SPEN Health Risk Pathogenic —
RS2148741878 SPEN Health Risk Pathogenic —
RS2148741888 SPEN Health Risk Pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2148741907 SPEN Health Risk Pathogenic —
RS2148741910 SPEN Health Risk Pathogenic —
RS2148742008 SPEN Health Risk Pathogenic —
RS2148742017 SPEN Health Risk Likely pathogenic —
RS2148744884 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148744935 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148744957 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148744982 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148745001 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148745015 SPAST Health Risk Likely pathogenic —
RS2148746207 SPEN Health Risk Pathogenic —
RS2148746358 SPAST Health Risk Pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2148746390 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148746437 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148750563 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148750599 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148750700 DMD Health Risk Pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2148750714 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148750854 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148750934 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148751467 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2148751523 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Dystrophin deficiency
RS2148751752 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148752584 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2148753625 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
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