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
RS2120577091 KMT2D Health Risk Pathogenic/Likely pathogenic Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, Kabuki syndrome 1
RS2120580820 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120590311 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120599595 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120605276 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120606244 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120606259 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120612017 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS2120620126 KMT2D Health Risk Likely pathogenic —
RS2120621151 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120621215 KMT2D Health Risk Likely pathogenic —
RS2120621227 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120631929 PTHLH Health Risk Pathogenic —
RS2120632521 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS2120632541 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120632984 PTHLH Health Risk Pathogenic —
RS2120647463 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120648164 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120649411 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120650961 PTPRQ Health Risk Pathogenic —
RS2120651305 POC1B Health Risk Pathogenic —
RS2120654180 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS2120657018 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS2120663922 KMT2D Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2120670890 PTHLH Health Risk Pathogenic Brachydactyly type E2, Brachydactyly type E2
RS2120671121 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS2120671676 KMT2D Health Risk Likely pathogenic —
RS2120682681 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120685231 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120689175 KMT2D Health Risk Likely pathogenic —
RS2120691810 ACVR1B Health Risk Pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS2120692230 KMT2D Health Risk Pathogenic —
RS2120692527 KMT2D Health Risk Pathogenic —
RS2120693175 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120694782 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120696377 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, KMT2D-related disorder
RS2120702721 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120707119 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS2120707151 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120711101 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120712071 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120713201 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2120713766 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2120713788 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS2120807666 HMGA2 Health Risk Pathogenic Silver-Russell syndrome 5, Silver-Russell syndrome 5
RS2120818344 CNTN1 Health Risk Likely pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS2120819481 CNTN1 Health Risk Pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS2120821285 DHH Health Risk Pathogenic 46, XY sex reversal 7
RS2120831286 POC1B Health Risk Pathogenic —
RS2120845441 POC1B Health Risk Pathogenic —
RS2120850531 POC1B Health Risk Pathogenic —
RS2120852980 POC1B Health Risk Pathogenic —
RS2120862502 JAM3 Health Risk Likely pathogenic Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
RS2120893783 NCKAP1L Health Risk Pathogenic Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation
RS2120939967 KRT2 Health Risk Likely pathogenic —
RS2121000699 KRT1 Health Risk Pathogenic Epidermolytic hyperkeratosis 1, Epidermolytic hyperkeratosis 1
RS2121004044 KRT1 Health Risk Likely pathogenic —
RS2121007459 KRT1 Health Risk Likely pathogenic —
RS2121008110 KRT1 Health Risk Likely pathogenic —
RS2121080959 AAAS Health Risk Pathogenic —
RS2121081165 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS2121081890 AAAS Health Risk Pathogenic —
RS2121082201 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS2121089586 AAAS Health Risk Likely pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS2121089867 AAAS Health Risk Pathogenic —
RS2121153865 TBX3 Health Risk Likely pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS2121158390 TBX3 Health Risk Likely pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS2121217835 KRT3 Health Risk Likely pathogenic Corneal dystrophy, Meesmann
RS2121223982 PTPRQ Health Risk Pathogenic Hearing loss, autosomal dominant 73
RS2121241118 TUBA1A Health Risk Pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2121241333 TUBA1A Health Risk Likely pathogenic —
RS2121241553 TUBA1A Health Risk Pathogenic —
RS2121242709 TUBA1A Health Risk Pathogenic/Likely pathogenic Tubulinopathy-associated dysgyria, Tubulinopathy-associated dysgyria
RS2121242769 TUBA1A Health Risk Likely pathogenic —
RS2121243281 TUBA1A Health Risk Likely pathogenic Seizure, Seizure
RS2121243396 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2121243526 TUBA1A Health Risk Likely pathogenic Lissencephaly, Lissencephaly
RS2121244045 TUBA1A Health Risk Pathogenic West syndrome, Tubulinopathy-associated dysgyria
RS2121244201 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2121244334 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2121244360 TUBA1A Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2121244643 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2121244807 TUBA1A Health Risk Likely pathogenic —
RS2121244979 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2121245032 TUBA1A Health Risk Pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2121246284 TUBA1A Health Risk Conflicting classifications of pathogenicity Lissencephaly due to TUBA1A mutation, Lissencephaly due to LIS1 mutation
RS2121246309 TUBA1A Health Risk Conflicting classifications of pathogenicity Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2121246535 TUBA1A Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
RS2121247772 TUBA1A Health Risk Conflicting classifications of pathogenicity TUBA1A-associated tubulinopathy, TUBA1A-associated tubulinopathy
RS2121247899 TUBA1A Health Risk Likely pathogenic —
RS2121248103 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2121248568 TUBA1A Health Risk Pathogenic Cerebral palsy, Cerebral palsy
RS2121248621 TUBA1A Health Risk Likely pathogenic —
RS2121256921 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2121280782 PTPRQ Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A
RS2121304960 PTPRQ Health Risk Likely pathogenic Ear malformation, Ear malformation
RS2121515547 PDE3A Health Risk Likely pathogenic —
RS2122051585 DOHH Health Risk Pathogenic DOHH related neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly
RS2122122610 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS2122122667 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
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