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
RS1602349137 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602349143 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS1602349166 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1602349183 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602349248 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349264 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1602349280 GJB1 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, Charcot-Marie-Tooth Neuropathy X
RS1602349293 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349302 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS1602349316 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS1602349322 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1602349341 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1602349369 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349383 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602349388 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349420 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349446 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602349451 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602349468 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349535 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349572 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349591 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602349603 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349628 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS1602349641 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS1602349655 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602349692 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349705 RP2 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1602349716 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS1602349730 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602349779 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349785 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602349940 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1602349955 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602349962 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602350003 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602350012 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1602350029 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602350059 GJB1 Health Risk Pathogenic —
RS1602350062 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1602354302 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602354996 RP2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 3, Retinal dystrophy
RS1602355025 RP2 Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS1602360475 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602363343 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602363550 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602369798 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602373055 PLP1 Health Risk Pathogenic Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease
RS1602379828 ZC4H2 Health Risk Pathogenic Wieacker-Wolff syndrome, Wieacker-Wolff syndrome
RS1602382354 ZC4H2 Health Risk Pathogenic —
RS1602382829 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS1602382987 PLP1;RAB9B Health Risk Likely pathogenic —
RS1602383021 PLP1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease
RS1602383045 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1602383261 PLP1 Health Risk Pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS1602383268 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS1602384101 PLP1 Health Risk Pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS1602384238 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS1602385663 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS1602385672 PLP1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS1602385699 PLP1 Health Risk Likely pathogenic —
RS1602385860 NONO Health Risk Pathogenic Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34
RS1602386427 NONO Health Risk Pathogenic —
RS1602386709 CASK Health Risk Pathogenic FG syndrome 4, Syndromic X-linked intellectual disability Najm type
RS1602387702 NONO Health Risk Pathogenic Syndromic X-linked intellectual disability 34, Inborn genetic diseases
RS1602395717 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602398950 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS16024 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1602402229 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602402258 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602402549 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602404847 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1602405079 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Thyroid cancer
RS1602405176 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602405239 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602405293 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602405375 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602405588 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1602407457 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1602409174 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS1602409271 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1602410098 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1602410239 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1602410858 TBX22 Health Risk Pathogenic Cleft palate with ankyloglossia, Cleft palate with ankyloglossia
RS1602410916 TBX22 Health Risk Pathogenic Cleft palate with ankyloglossia, Cleft palate with ankyloglossia
RS1602411514 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602411858 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1602411954 TBX22 Health Risk Pathogenic Cleft palate with ankyloglossia, Cleft palate with ankyloglossia
RS1602412679 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1602413408 SMC1A Health Risk Conflicting classifications of pathogenicity —
RS1602413491 TBC1D8B Health Risk Likely pathogenic Nephrotic syndrome, type 20
RS1602413582 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1602414282 TBX22 Health Risk Pathogenic Cleft palate with or without ankyloglossia, X-linked
RS1602416457 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602417503 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Thyroid cancer
RS1602418853 SMC1A Health Risk Likely pathogenic —
RS1602424764 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS1602424843 CASK Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Najm type, FG syndrome 4
RS1602424869 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS1602426573 HSD17B10 Health Risk Likely pathogenic HSD10 mitochondrial disease, HSD10 mitochondrial disease
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