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
RS2528150148 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528150542 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528151865 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528152112 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528152423 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528152663 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528154002 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2528160239 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2528161213 USH2A Health Risk Pathogenic —
RS2528161379 USH2A Health Risk Pathogenic —
RS2528161583 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2528161607 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528161652 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2528161739 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2528161905 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2528162327 USH2A Health Risk Pathogenic —
RS2528162523 USH2A Health Risk Pathogenic —
RS2528162648 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528162842 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528162873 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528163140 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528163373 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528163453 USH2A Health Risk Pathogenic —
RS2528163570 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS2528163651 USH2A Health Risk Pathogenic —
RS2528163712 USH2A Health Risk Pathogenic —
RS2528165070 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528165311 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528166190 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528167027 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528167163 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528170263 KCNT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 57
RS2528171534 USH2A Health Risk Pathogenic —
RS2528171806 USH2A Health Risk Likely pathogenic —
RS2528172067 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528172138 USH2A Health Risk Pathogenic —
RS2528172143 USH2A Health Risk Conflicting classifications of pathogenicity —
RS2528175079 NBAS Health Risk Pathogenic —
RS2528176273 RPS7 Health Risk Pathogenic Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
RS2528177027 RPS7 Health Risk Likely pathogenic Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
RS2528177029 RPS7 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2528177941 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2528185029 LHX4 Health Risk Likely pathogenic —
RS2528195914 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528196103 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528196636 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528196742 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528196780 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528196899 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528196951 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528197381 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528197857 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528198657 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528198828 TET3 Health Risk Likely pathogenic Beck-Fahrner syndrome, Beck-Fahrner syndrome
RS2528198937 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528199038 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528200607 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528200659 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528201160 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528201250 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Severe early-childhood-onset retinal dystrophy
RS2528201580 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528202094 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis
RS2528202588 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528202749 NBAS Health Risk Pathogenic —
RS2528203102 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528204409 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528204450 CRB1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS2528204854 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528204865 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528204917 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528205083 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528205271 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528221827 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528221941 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528222834 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528222910 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528223041 CACNA1C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, language delay
RS2528224626 TRAPPC12 Health Risk Pathogenic Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
RS2528226967 TRAPPC12 Health Risk Likely pathogenic Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
RS2528227620 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2528230767 COQ8A Health Risk Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS2528233843 TRAPPC12 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2528240695 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2528240978 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2528241635 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2528243560 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528243703 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528243821 COLEC11 Health Risk Pathogenic 3MC syndrome, 3MC syndrome
RS2528244159 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528244275 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinal dystrophy
RS2528250134 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2528250359 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2528250368 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2528250447 USH2A Health Risk Pathogenic —
RS2528250461 USH2A Health Risk Pathogenic —
RS2528250467 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2528250472 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2528250682 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS2528250720 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS2528255279 COQ8A Health Risk Pathogenic —
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