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
RS2104652801 MERTK Health Risk Likely pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS2104657995 FBXO11 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104658407 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104658474 FBXO11 Health Risk Likely pathogenic —
RS2104663816 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104663941 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104664101 FBXO11 Health Risk Likely pathogenic —
RS2104666055 CCDC88A Health Risk Pathogenic —
RS2104686582 MERTK Health Risk Pathogenic —
RS2104688189 ZAP70 Health Risk Pathogenic Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS2104688806 CCDC88A Health Risk Pathogenic —
RS2104690231 CCDC88A Health Risk Pathogenic PEHO-like syndrome, PEHO-like syndrome
RS2104690304 CCDC88A Health Risk Pathogenic —
RS2104690970 TFCP2L1 Health Risk Likely pathogenic Chronic kidney disease, Chronic kidney disease
RS2104693246 ZAP70 Health Risk Likely pathogenic —
RS2104696745 GLI2 Health Risk Pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS2104702108 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104702176 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104703623 FBXO11 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104716005 FBXO11 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104716043 FBXO11 Health Risk Likely pathogenic —
RS2104716065 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104716081 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104716125 FBXO11 Health Risk Likely pathogenic —
RS2104716435 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104720906 CCDC88A Health Risk Pathogenic —
RS2104730145 CCDC88A Health Risk Pathogenic —
RS2104730296 CCDC88A Health Risk Pathogenic —
RS2104731734 FBXO11 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104731942 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104733931 MERTK Health Risk Pathogenic —
RS2104733978 MERTK Health Risk Pathogenic/Likely pathogenic —
RS2104734930 AFF3 Health Risk Pathogenic KINSSHIP syndrome, KINSSHIP syndrome
RS2104734977 AFF3 Health Risk Pathogenic/Likely pathogenic KINSSHIP syndrome, KINSSHIP syndrome
RS2104735114 AFF3 Health Risk Pathogenic AFF3-related neurodevelopmental disorders, KINSSHIP syndrome
RS2104735130 AFF3 Health Risk Pathogenic KINSSHIP syndrome, KINSSHIP syndrome
RS2104735156 AFF3 Health Risk Pathogenic KINSSHIP syndrome, KINSSHIP syndrome
RS2104735490 NFU1 Health Risk Likely pathogenic Multiple mitochondrial dysfunctions syndrome 1, Spastic paraplegia 93
RS2104738808 FBXO11 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104738949 FBXO11 Health Risk Pathogenic —
RS2104739052 FBXO11 Health Risk Likely pathogenic See cases, See cases
RS2104739095 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104739162 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104741154 MERTK Health Risk Pathogenic —
RS2104749307 BCL11A Health Risk Pathogenic —
RS2104762167 ERCC3 Health Risk Pathogenic —
RS2104771725 WDPCP Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2104772718 WDPCP Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2104773015 ASTL Health Risk Pathogenic Oocyte maturation defect 11, Oocyte maturation defect 11
RS2104774484 EXOC6B Health Risk Pathogenic Spondyloepimetaphyseal dysplasia with joint laxity, type 3
RS2104774793 ERCC3 Health Risk Pathogenic —
RS2104776740 ERCC3 Health Risk Pathogenic —
RS2104783010 ERCC3 Health Risk Pathogenic —
RS2104783876 ABCG5;DYNC2LI1 Health Risk Likely pathogenic —
RS2104783888 FANCL Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2104795249 FANCL Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia
RS2104799592 FANCL Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2104799800 FANCL Health Risk Pathogenic Fanconi anemia complementation group L, Fanconi anemia complementation group L
RS2104801226 BCL11A Health Risk Pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS2104801406 BCL11A Health Risk Pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS2104803129 PEX13 Health Risk Likely pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS2104803174 SMPD4 Health Risk Pathogenic —
RS2104803205 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS2104803395 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11B
RS2104803491 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS2104803776 PEX13 Health Risk Likely pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS2104805055 ATP6V1B1 Health Risk Likely pathogenic —
RS2104806661 CFAP221 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Young syndrome
RS2104807681 FBXO11 Health Risk Pathogenic —
RS2104807871 FBXO11 Health Risk Likely pathogenic See cases, See cases
RS2104808169 FBXO11 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2104808289 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104812709 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS2104814089 SMPD4 Health Risk Conflicting classifications of pathogenicity Abnormal cerebral morphology, Neurodevelopmental disorder with microcephaly
RS2104814809 PEX13 Health Risk Likely pathogenic —
RS2104815901 ACTG2 Health Risk Likely pathogenic Megacystis, microcolon
RS2104821169 ACTG2 Health Risk Likely pathogenic Visceral myopathy 1, Visceral myopathy 1
RS2104822324 CCDC88A Health Risk Pathogenic —
RS2104825065 ATP6V1B1 Health Risk Pathogenic —
RS2104825177 ATP6V1B1 Health Risk Pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS2104825201 ACTG2 Health Risk Likely pathogenic Chronic intestinal pseudoobstruction, Chronic intestinal pseudoobstruction
RS2104827591 ATP6V1B1 Health Risk Likely pathogenic Urogenital tract malformation, Urogenital tract malformation
RS2104828670 ATP6V1B1 Health Risk Pathogenic —
RS2104830594 ABCG5 Health Risk Pathogenic —
RS2104831175 ATP6V1B1 Health Risk Pathogenic —
RS2104831681 ATP6V1B1 Health Risk Likely pathogenic —
RS2104831698 ATP6V1B1 Health Risk Pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS2104832291 FBXO11 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104832921 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104833077 FBXO11 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104833879 ATP6V1B1 Health Risk Pathogenic —
RS2104834299 ATP6V1B1 Health Risk Pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS2104834401 ATP6V1B1 Health Risk Pathogenic —
RS2104834677 ATP6V1B1 Health Risk Pathogenic —
RS2104834712 ATP6V1B1 Health Risk Pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS2104834809 ATP6V1B1 Health Risk Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS2104856077 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104856110 FBXO11 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104856413 FBXO11 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2104860646 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
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