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
RS2129129571 KMT2C Health Risk Conflicting classifications of pathogenicity —
RS2129132478 TUSC3 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 7
RS2129145634 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2129145649 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2129147984 KMT2C Health Risk Pathogenic —
RS2129163740 KMT2C Health Risk Pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2129166824 KMT2C Health Risk Pathogenic —
RS2129179995 TUSC3 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 7
RS2129184409 COG5 Health Risk Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS2129185949 CNTNAP2 Health Risk Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2129200410 KMT2C Health Risk Pathogenic —
RS2129205425 BPNT2 Health Risk Pathogenic Chondrodysplasia with joint dislocations, gPAPP type
RS2129205437 BPNT2 Health Risk Pathogenic —
RS2129210679 MAGI2 Health Risk Likely pathogenic Nephrotic syndrome 15, Nephrotic syndrome 15
RS2129224282 PLAG1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2129224609 PLAG1 Health Risk Likely pathogenic Silver-russell syndrome 4, Silver-russell syndrome 4
RS2129231218 SBDS Health Risk Likely pathogenic Shwachman-Diamond syndrome 1, Shwachman-Diamond syndrome 1
RS2129277991 SOX17 Health Risk Pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS2129278076 SOX17 Health Risk Likely pathogenic —
RS2129279519 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2129279547 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2129279551 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2129279561 CNTNAP2 Health Risk Likely pathogenic See cases, See cases
RS2129282705 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2129308726 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129308766 SLC26A4 Health Risk Pathogenic —
RS2129309178 SLC26A4 Health Risk Pathogenic Pendred syndrome, Pendred syndrome
RS2129309202 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129309208 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129311226 SLC26A4 Health Risk Likely pathogenic —
RS2129311240 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS2129311246 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS2129311252 SLC26A4 Health Risk Conflicting classifications of pathogenicity —
RS2129311265 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129311271 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS2129311273 SLC26A4 Health Risk Pathogenic —
RS2129311278 SLC26A4 Health Risk Likely pathogenic —
RS2129311282 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129311722 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129311772 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129311933 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Sensorineural hearing loss disorder
RS2129311939 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129311948 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129311949 SLC26A4 Health Risk Pathogenic —
RS2129311951 SLC26A4 Health Risk Pathogenic Pendred syndrome, Pendred syndrome
RS2129311957 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129311961 SLC26A4 Health Risk Pathogenic Pendred syndrome, Pendred syndrome
RS2129311968 SLC26A4 Health Risk Conflicting classifications of pathogenicity —
RS2129314132 RP1 Health Risk Pathogenic —
RS2129314417 RP1 Health Risk Pathogenic —
RS2129314434 RP1 Health Risk Pathogenic —
RS2129314450 RP1 Health Risk Pathogenic —
RS2129314461 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129314462 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS2129314494 SLC26A4 Health Risk Likely pathogenic Ear malformation, Autosomal recessive nonsyndromic hearing loss 4
RS2129314581 SLC26A4 Health Risk Pathogenic —
RS2129315781 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS2129315787 SLC26A4 Health Risk Pathogenic —
RS2129315801 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129315827 SLC26A4 Health Risk Pathogenic —
RS2129315903 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2129316011 SLC26A4 Health Risk Pathogenic —
RS2129316028 RP1 Health Risk Pathogenic —
RS2129316266 RP1 Health Risk Pathogenic —
RS2129316272 RP1 Health Risk Pathogenic —
RS2129316318 RP1 Health Risk Pathogenic —
RS2129316359 RP1 Health Risk Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS2129316376 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS2129316381 RP1 Health Risk Pathogenic —
RS2129316413 RP1 Health Risk Pathogenic —
RS2129316415 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS2129316420 RP1 Health Risk Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS2129316422 RP1 Health Risk Pathogenic —
RS2129316431 RP1 Health Risk Pathogenic —
RS2129316459 RP1 Health Risk Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS2129316466 RP1 Health Risk Pathogenic —
RS2129316468 RP1 Health Risk Likely pathogenic —
RS2129316479 RP1 Health Risk Pathogenic —
RS2129316492 RP1 Health Risk Pathogenic —
RS2129316517 RP1 Health Risk Pathogenic —
RS2129316527 RP1 Health Risk Pathogenic —
RS2129316559 RP1 Health Risk Pathogenic —
RS2129316562 RP1 Health Risk Pathogenic —
RS2129316571 RP1 Health Risk Pathogenic —
RS2129316679 RP1 Health Risk Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS2129316713 RP1 Health Risk Pathogenic —
RS2129316716 RP1 Health Risk Pathogenic —
RS2129316820 RP1 Health Risk Pathogenic —
RS2129316850 RP1 Health Risk Pathogenic —
RS2129316889 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129316890 RP1 Health Risk Pathogenic —
RS2129316898 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129316904 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129316919 RP1 Health Risk Pathogenic —
RS2129316936 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129316944 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2129316961 SLC26A4 Health Risk Pathogenic/Likely pathogenic —
RS2129317141 SLC26A4 Health Risk Pathogenic —
RS2129317263 RP1 Health Risk Pathogenic —
RS2129317292 RP1 Health Risk Pathogenic —
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