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
RS1554570388 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554570706 FGFR1 Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS1554570813 FGFR1 Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS1554571213 GDF6 Health Risk Pathogenic Multiple synostoses syndrome 4, Multiple synostoses syndrome 4
RS1554572659 PDP1 Health Risk Likely pathogenic —
RS1554572756 PDP1 Health Risk Pathogenic Pyruvate dehydrogenase phosphatase deficiency, Pyruvate dehydrogenase phosphatase deficiency
RS1554573328 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1554574028 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1554575679 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554575693 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554576888 RSPO2 Health Risk Pathogenic Tetraamelia syndrome 2, Tetraamelia syndrome 2
RS1554577339 ESRP1 Health Risk Pathogenic Hearing loss, autosomal recessive 109
RS1554577402 ESRP1 Health Risk Pathogenic Hearing loss, autosomal recessive 109
RS1554577679 UQCRB;UQCRB-AS1 Health Risk Likely pathogenic Mitochondrial complex III deficiency nuclear type 3, Mitochondrial complex III deficiency nuclear type 3
RS1554578304 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1554578706 EXT1 Health Risk Pathogenic —
RS1554578710 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554578798 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Chondrosarcoma
RS1554578802 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Exostoses
RS1554578992 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554579004 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554579522 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554579568 RSPO2 Health Risk Likely pathogenic Tetraamelia syndrome 2, Tetraamelia syndrome 2
RS1554579819 GRHL2 Health Risk Pathogenic/Likely pathogenic Corneal dystrophy, posterior polymorphous
RS1554579832 GRHL2 Health Risk Likely pathogenic Corneal dystrophy, Corneal dystrophy
RS1554579878 GRHL2 Health Risk Pathogenic/Likely pathogenic Corneal dystrophy, posterior polymorphous
RS1554579961 KMT2C Health Risk Conflicting classifications of pathogenicity KMT2C-related NDD, KMT2C-related NDD
RS1554580035 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554580083 KMT2C Health Risk Pathogenic/Likely pathogenic Kleefstra syndrome 2, KMT2C-related NDD
RS1554580140 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554580142 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554580147 EXT1 Health Risk Pathogenic/Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554580149 EXT1 Health Risk Pathogenic/Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554580153 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554580158 EXT1 Health Risk Pathogenic —
RS1554580160 EXT1 Health Risk Pathogenic —
RS1554580162 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554580532 HR Health Risk Likely pathogenic —
RS1554581127 CHD7 Health Risk Pathogenic —
RS1554581156 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554581198 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554581267 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, VPS13B-related disorder
RS1554581277 CHD7 Health Risk Pathogenic CHARGE syndrome, CHD7-related disorder
RS1554581354 CHD7 Health Risk Pathogenic —
RS1554581399 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1554581430 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554581501 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1554581504 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554581632 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554581646 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554581657 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554581674 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1554581676 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554581757 CHD7 Health Risk Pathogenic Hearing impairment, Pulmonary artery atresia
RS1554581814 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1554581821 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS1554583015 ZFPM2 Health Risk Likely pathogenic —
RS1554584474 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B
RS1554584487 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder 5A (Zellweger)
RS1554584505 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B
RS1554586953 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554586972 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554586994 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554587021 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554588038 VPS13B Health Risk Pathogenic —
RS1554588353 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1554588477 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554588489 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554588671 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554588675 CHD7 Health Risk Pathogenic Inborn genetic diseases, CHARGE syndrome
RS1554588688 SYNE1 Health Risk Pathogenic —
RS1554588712 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554588769 CHD7 Health Risk Pathogenic —
RS1554590314 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554590433 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554590486 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1554591598 CHD7 Health Risk Pathogenic —
RS1554591634 CHD7 Health Risk Pathogenic —
RS1554593023 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554593049 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554593085 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS1554593099 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS1554593120 KMT2C Health Risk Pathogenic/Likely pathogenic KMT2C-related NDD, KMT2C-related NDD
RS1554593899 WASHC5 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS1554593901 WASHC5 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS1554594114 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1554594245 MNX1 Health Risk Pathogenic —
RS1554594326 MNX1 Health Risk Pathogenic —
RS1554594329 MNX1 Health Risk Pathogenic Currarino triad, Currarino triad
RS1554595930 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS1554596004 TRPS1 Health Risk Pathogenic —
RS1554596063 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS1554596328 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS1554596393 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS1554596397 TRPS1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554596418 TRPS1 Health Risk Likely pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS1554596461 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS1554597465 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554597507 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1554597512 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
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