SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886041562 SCN1A Health Risk Pathogenic —
RS886041563 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Lymphangiomyomatosis
RS886041564 WAC Health Risk Likely pathogenic —
RS886041565 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Fibromatosis
RS886041566 CHD2 Health Risk Pathogenic —
RS886041567 CEP164 Health Risk Pathogenic —
RS886041568 PPT1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS886041569 PHEX Health Risk Pathogenic —
RS886041570 NEXMIF Health Risk Pathogenic —
RS886041571 KMT2A Health Risk Pathogenic —
RS886041572 KRIT1 Health Risk Pathogenic —
RS886041573 TSC2 Health Risk Pathogenic —
RS886041574 ANKRD11 Health Risk Pathogenic —
RS886041575 CHD7 Health Risk Pathogenic —
RS886041576 ATP2A2 Health Risk Pathogenic —
RS886041577 FUS Health Risk Pathogenic —
RS886041578 TCF4 Health Risk Pathogenic —
RS886041579 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS886041580 CDC73 Health Risk Pathogenic —
RS886041581 MED12 Health Risk Pathogenic —
RS886041582 CYBB Health Risk Pathogenic —
RS886041583 ZIC2 Health Risk Pathogenic —
RS886041584 SELENON Health Risk Pathogenic Congenital myopathy 4A, autosomal dominant
RS886041586 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS886041587 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS886041588 PHEX Health Risk Pathogenic —
RS886041589 DDX3X Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS886041590 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS886041591 PIK3R2 Health Risk Pathogenic Seizure, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
RS886041592 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, 6 conditions
RS886041593 SETD5 Health Risk Pathogenic Inborn genetic diseases, See cases
RS886041594 SZT2 Health Risk Pathogenic —
RS886041595 USP9X Health Risk Pathogenic Intellectual disability, X-linked 99
RS886041596 FOXP3 Health Risk Pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS886041597 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS886041598 MAGEL2 Health Risk Pathogenic —
RS886041600 PURA Health Risk Likely pathogenic —
RS886041601 ZEB2 Health Risk Pathogenic —
RS886041602 PIK3R2 Health Risk Pathogenic —
RS886041603 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS886041604 SCN1A Health Risk Pathogenic —
RS886041605 WDR45 Health Risk Pathogenic —
RS886041606 TBX5 Health Risk Pathogenic —
RS886041607 COMP Health Risk Likely pathogenic —
RS886041608 KCNQ2 Health Risk Pathogenic —
RS886041609 AUTS2 Health Risk Pathogenic —
RS886041610 PTCHD1 Health Risk Likely pathogenic —
RS886041611 KCNQ2 Health Risk Pathogenic/Likely pathogenic —
RS886041612 ERLIN2 Health Risk Pathogenic —
RS886041613 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS886041614 WAC Health Risk Pathogenic Rare genetic intellectual disability, DeSanto-Shinawi syndrome due to WAC point mutation
RS886041615 NSD1 Health Risk Pathogenic —
RS886041616 XYLT1 Health Risk Pathogenic —
RS886041617 KCNB1 Health Risk Pathogenic —
RS886041618 WNT10A Health Risk Pathogenic —
RS886041619 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS886041620 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS886041621 GATAD2B Health Risk Pathogenic GATAD2B-related disorder, GATAD2B-related intellectual disability syndrome
RS886041623 ARID1B Health Risk Pathogenic —
RS886041624 MED13L Health Risk Pathogenic —
RS886041625 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS886041626 PHEX Health Risk Pathogenic —
RS886041627 KMT2D Health Risk Pathogenic —
RS886041628 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS886041629 DMD Health Risk Pathogenic —
RS886041630 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS886041631 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS886041632 ARID1B Health Risk Pathogenic —
RS886041633 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS886041634 MEN1 Health Risk Pathogenic —
RS886041635 CAMTA1 Health Risk Pathogenic/Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS886041636 POLR3A Health Risk Pathogenic —
RS886041637 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS886041638 TSC1 Health Risk Pathogenic —
RS886041639 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS886041640 WAC Health Risk Pathogenic —
RS886041641 DNMT3A Health Risk Pathogenic —
RS886041643 TSC2 Health Risk Pathogenic —
RS886041644 SCN1A Health Risk Pathogenic —
RS886041645 CASK Health Risk Pathogenic —
RS886041646 TAB2 Health Risk Pathogenic —
RS886041647 NFIX Health Risk Pathogenic Marshall-Smith syndrome, NFIX-related disorder
RS886041648 PLP1 Health Risk Pathogenic —
RS886041649 GPT2 Health Risk Pathogenic —
RS886041650 CHD2 Health Risk Pathogenic —
RS886041651 POMK Health Risk Pathogenic —
RS886041652 ASXL3 Health Risk Pathogenic —
RS886041653 DMD Health Risk Pathogenic —
RS886041654 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS886041655 MYT1L Health Risk Pathogenic —
RS886041656 PEX5 Health Risk Pathogenic —
RS886041657 MTM1 Health Risk Pathogenic —
RS886041658 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS886041659 FMN2 Health Risk Pathogenic —
RS886041660 KMT2D Health Risk Pathogenic —
RS886041661 POLR1C Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3
RS886041662 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS886041664 PAFAH1B1 Health Risk Pathogenic —
RS886041665 ARID1B Health Risk Pathogenic —
RS886041666 STX1B Health Risk Pathogenic —
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