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
RS2536703309 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536706772 NDUFAF6 Health Risk Pathogenic —
RS2536706841 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536707355 PMS2 Health Risk Likely pathogenic Lynch syndrome, Lynch syndrome
RS2536707454 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536707460 NDUFAF6 Health Risk Likely pathogenic —
RS2536709031 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2536710992 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2536718328 EMC1 Health Risk Pathogenic —
RS2536722203 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2536722528 GDAP1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease
RS2536723934 KIF1A Health Risk Pathogenic Neuropathy, hereditary sensory
RS2536724594 GDAP1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS2536724673 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS2536724780 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS2536724799 GDAP1 Health Risk Pathogenic —
RS2536725063 GDAP1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS2536728271 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2536730722 EMC1 Health Risk Pathogenic —
RS2536741205 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS2536741344 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS2536743437 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2536744098 COG5 Health Risk Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS2536744805 GDAP1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS2536745244 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS2536745258 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS2536746674 EMC1 Health Risk Pathogenic —
RS2536749929 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS2536749948 GDAP1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease axonal type 2K
RS2536750075 GDAP1 Health Risk Likely pathogenic —
RS2536750938 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS2536753244 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536753612 TMEM67 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2536756606 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536756723 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536760867 EMC1 Health Risk Likely pathogenic —
RS2536768544 DOCK4 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2536775368 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536775494 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536775591 EMC1 Health Risk Likely pathogenic Cerebellar atrophy, visual impairment
RS2536775609 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS2536777334 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536784373 TMEM67 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536784649 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536786120 FGFR1 Health Risk Pathogenic —
RS2536788775 FGFR1 Health Risk Pathogenic Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536789999 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536790447 TMEM67 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2536790773 TMEM67 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2536796557 GRHL2 Health Risk Likely pathogenic GRHL2-related disorder, GRHL2-related disorder
RS2536797545 EYA1 Health Risk Likely pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2536798209 CLXN Health Risk Pathogenic Ciliary dyskinesia, primary
RS2536798545 DOCK4 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2536800069 ADAM22 Health Risk Pathogenic Developmental and epileptic encephalopathy, 61
RS2536804249 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536805437 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS2536810012 EYA1 Health Risk Likely pathogenic Branchiootic syndrome 1, Branchiootic syndrome 1
RS2536811675 EYA1 Health Risk Likely pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2536814870 GRHL2 Health Risk Pathogenic —
RS2536816928 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536817156 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536817689 FGFR1 Health Risk Pathogenic Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536817757 FGFR1 Health Risk Pathogenic Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536819511 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536819756 FGFR1 Health Risk Pathogenic Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536820437 FGFR1 Health Risk Pathogenic Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536821212 GJA1 Health Risk Likely pathogenic Oculodentodigital dysplasia, autosomal recessive
RS2536821290 GJA1 Health Risk Likely pathogenic Oculodentodigital dysplasia, Oculodentodigital dysplasia
RS2536821902 GJA1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2536821904 GJA1 Health Risk Pathogenic Oculodentodigital dysplasia, autosomal recessive
RS2536825046 CUX1 Health Risk Pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS2536827502 ZFPM2 Health Risk Pathogenic Diaphragmatic hernia 3, Diaphragmatic hernia 3
RS2536829592 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2536829958 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2536836598 NDUFAF6 Health Risk Pathogenic —
RS2536841694 TMEM67 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2536841703 TMEM67 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536842897 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536850855 FGFR1 Health Risk Likely pathogenic Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536850924 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536853592 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536855900 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2536859968 GRHL2 Health Risk Pathogenic —
RS2536860363 TRPS1 Health Risk Pathogenic —
RS2536860629 TMEM67 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2536860822 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2536860942 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2536861390 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2536861441 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2536862285 TG Health Risk Pathogenic —
RS2536862352 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS2536862481 TRPS1 Health Risk Pathogenic/Likely pathogenic Trichorhinophalangeal syndrome, type III
RS2536863410 TG Health Risk Pathogenic —
RS2536863682 TG Health Risk Pathogenic —
RS2536873718 TG Health Risk Pathogenic —
RS2536875506 KCNQ3 Health Risk Pathogenic Benign neonatal seizures, Benign neonatal seizures
RS2536880959 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536888058 TMEM67 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536888066 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2536888086 TRPS1 Health Risk Pathogenic —
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