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
RS1555997580 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1555997626 AR Health Risk Pathogenic —
RS1555997735 RLIM Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 61
RS1555997775 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS1555997799 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1555997810 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1555998085 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1555998102 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1555998105 AR Health Risk Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS1555998108 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1555998114 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1555998436 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1555998851 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1555999948 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1556000257 CASK Health Risk Likely pathogenic —
RS1556000842 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1556000892 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1556001138 SMS Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556001304 SMS Health Risk Likely pathogenic SMS-related disorder, SMS-related disorder
RS1556001351 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1556001856 MID1 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1556001968 MID1 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1556002004 MID1 Health Risk Pathogenic —
RS1556002344 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1556002457 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1556002536 NF2 Health Risk Likely pathogenic Neurofibromatosis, type 2
RS1556002568 NF2 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 2
RS1556003095 MID1 Health Risk Pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1556003200 MID1 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1556003799 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1556003801 NF2 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 2
RS1556004104 CASK Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556004366 MID1 Health Risk Pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1556004400 MID1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, X-linked Opitz G/BBB syndrome
RS1556004404 MID1 Health Risk Pathogenic —
RS1556004792 ZDHHC9 Health Risk Pathogenic —
RS1556004813 ZDHHC9 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556005930 THOC2 Health Risk Pathogenic X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS1556006174 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1556007364 ZDHHC9 Health Risk Pathogenic —
RS1556007472 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1556007534 HDAC8 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS1556008316 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1556008584 F9 Health Risk Likely pathogenic Inborn genetic diseases, Hereditary factor IX deficiency disease
RS1556009247 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, 6 conditions
RS1556010444 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1556010757 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556012055 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556012094 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556012100 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556013203 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS1556013503 SRPX2 Health Risk Likely pathogenic —
RS1556014263 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556014284 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556014287 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556014749 CASK Health Risk Pathogenic/Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS1556014805 CASK Health Risk Pathogenic —
RS1556014935 THOC2 Health Risk Pathogenic/Likely pathogenic X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS1556014969 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1556015437 THOC2 Health Risk Likely pathogenic X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS1556015593 THOC2 Health Risk Likely pathogenic X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS1556016224 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS1556016292 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS1556016347 CASK Health Risk Likely pathogenic —
RS1556016350 NEXMIF Health Risk Pathogenic —
RS1556016352 NEXMIF Health Risk Pathogenic —
RS1556016365 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1556016381 NEXMIF Health Risk Pathogenic —
RS1556016438 NEXMIF Health Risk Pathogenic —
RS1556016529 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS1556016555 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS1556016632 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS1556016642 NEXMIF Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1556016723 NEXMIF Health Risk Pathogenic —
RS1556016724 NEXMIF Health Risk Pathogenic —
RS1556016731 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS1556016735 NEXMIF Health Risk Pathogenic —
RS1556016802 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS1556018932 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Inborn genetic diseases
RS1556019107 PHF6 Health Risk Pathogenic Inborn genetic diseases, See cases
RS1556020460 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556020474 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556020485 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556020616 PHF6 Health Risk Pathogenic —
RS1556020752 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556020770 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556020798 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556020818 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Thyroid cancer
RS1556020845 PHEX Health Risk Pathogenic Hypophosphatemic rickets, Hypophosphatemic rickets
RS1556022641 GPC4 Health Risk Pathogenic Keipert syndrome, Keipert syndrome
RS1556022644 GPC4 Health Risk Pathogenic Keipert syndrome, Keipert syndrome
RS1556022962 GPC4 Health Risk Likely pathogenic Distal shortening of limbs, Distal shortening of limbs
RS1556023495 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556023503 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556023505 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556023528 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1556023562 KCNJ6 Health Risk Likely pathogenic Keppen-Lubinsky syndrome, Keppen-Lubinsky syndrome
RS1556023928 THOC2 Health Risk Pathogenic X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS1556024095 DMD Health Risk Pathogenic —
RS1556024147 DMD Health Risk Pathogenic/Likely pathogenic —
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