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
RS1586799490 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1586800133 KCNQ3 Health Risk Pathogenic/Likely pathogenic Benign neonatal seizures, Seizures
RS1586803063 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease
RS1586803187 GDAP1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS1586803273 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A
RS1586804849 GDAP1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A
RS1586806238 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K
RS1586807387 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A
RS1586807410 GDAP1 Health Risk Pathogenic Neuropathy, axonal
RS1586807529 GDAP1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease axonal type 2K
RS1586808386 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1586813574 PLEC Health Risk Pathogenic —
RS1586819343 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1586821509 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1586821679 RECQL4 Health Risk Pathogenic/Likely pathogenic Rothmund-Thomson syndrome type 2, Rapadilino syndrome
RS1586824430 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1586824650 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1586824938 RECQL4 Health Risk Pathogenic/Likely pathogenic Baller-Gerold syndrome, Rapadilino syndrome
RS1586833765 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1586834813 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1586841546 MPDZ Health Risk Likely pathogenic Hydrocephalus, nonsyndromic
RS1586903449 PLEC Health Risk Pathogenic —
RS1586909309 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1586940273 DOCK8 Health Risk Pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1586989189 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1586989202 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1586989220 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1586990317 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1586990361 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1586990398 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1586990402 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1586993117 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1586993159 EXT1 Health Risk Pathogenic Exostoses, multiple
RS1586996629 EXT1 Health Risk Pathogenic —
RS1586997796 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1586997875 EXT1 Health Risk Pathogenic —
RS1587001428 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1587003655 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1587003661 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1587003662 EXT1 Health Risk Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1587004341 EXT1 Health Risk Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1587007112 RUNX1T1 Health Risk Likely pathogenic NK-cell enteropathy, NK-cell enteropathy
RS1587035726 PLEC Health Risk Pathogenic —
RS1587053244 AGK Health Risk Pathogenic Sengers syndrome, Sengers syndrome
RS1587053767 NFIB Health Risk Likely pathogenic —
RS1587067513 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1587085165 DNAI1 Health Risk Likely pathogenic Kartagener syndrome, Kartagener syndrome
RS1587089935 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1587091911 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1587143342 DOCK8 Health Risk Likely pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1587143858 PLAA Health Risk Likely pathogenic Neurodevelopmental disorder with progressive microcephaly, spasticity
RS1587149916 MPDZ Health Risk Pathogenic/Likely pathogenic Hydrocephalus, nonsyndromic
RS1587154269 DST Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS1587159769 PIGO Health Risk Likely pathogenic Hyperphosphatasia-intellectual disability syndrome, Hyperphosphatasia-intellectual disability syndrome
RS1587162510 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1
RS1587162871 AGK Health Risk Likely pathogenic Sengers syndrome, Sengers syndrome
RS1587166550 PIGO Health Risk Pathogenic/Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1587166863 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1587167234 PIGO Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1587174071 OXR1 Health Risk Pathogenic Congenital cerebellar hypoplasia, Congenital cerebellar hypoplasia
RS1587176440 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1587178357 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1587178460 RRM2B Health Risk Pathogenic Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a
RS1587178555 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Congenital hypothyroidism
RS1587181981 AGK Health Risk Likely pathogenic Sengers syndrome, Sengers syndrome
RS1587185107 PLAA Health Risk Pathogenic Neurodevelopmental disorder with progressive microcephaly, spasticity
RS1587186073 RRM2B Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a
RS1587186105 RRM2B Health Risk Pathogenic —
RS1587205406 PLAA Health Risk Pathogenic Neurodevelopmental disorder with progressive microcephaly, spasticity
RS1587236467 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1587237799 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS1587239309 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1587240095 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1587240180 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1587248925 TG Health Risk Likely pathogenic —
RS1587302415 OXR1 Health Risk Pathogenic Congenital cerebellar hypoplasia, Congenital cerebellar hypoplasia
RS1587330284 CDKN2A Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial melanoma
RS1587330309 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS1587330312 CDKN2A Health Risk Likely pathogenic Familial melanoma, Squamous cell carcinoma of the head and neck
RS1587330504 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1587330671 APTX Health Risk Pathogenic Ataxia, early-onset
RS1587331920 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1587332001 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1587332220 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1587332314 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Squamous cell lung carcinoma
RS1587332338 CDKN2A Health Risk Pathogenic Familial melanoma, Hereditary cancer-predisposing syndrome
RS1587340291 CDKN2A Health Risk Pathogenic/Likely pathogenic Familial melanoma, Hereditary cancer-predisposing syndrome
RS1587340400 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1587357327 CFAP418 Health Risk Likely pathogenic Bardet-biedl syndrome 21, Bardet-biedl syndrome 21
RS1587358382 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1587358566 VPS13A Health Risk Pathogenic —
RS1587393982 RORB Health Risk Likely pathogenic Epilepsy, idiopathic generalized
RS1587401875 RORB Health Risk Pathogenic Epilepsy, idiopathic generalized
RS1587435802 APTX Health Risk Likely pathogenic —
RS1587449274 APTX Health Risk Likely pathogenic —
RS1587459606 PARP10 Health Risk Likely pathogenic Developmental delay, Developmental delay
RS1587520018 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS1587520094 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS1587522206 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS1587538382 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
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