SNP Links for Nucleotide (Select 284925139) - SNP

Links from Nucleotide

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Select item 14863192871.

rs1486319287 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCC>- [Show Flanks]
Chromosome:: 10:71815018 (GRCh38)
10:73574775 (GRCh37)
Canonical SPDI:: NC_000010.11:71815016:CCGCC:C
Gene:: CDH23 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.71815018_71815021del, NC_000010.10:g.73574775_73574778del, NG_008835.1:g.423072_423075del, NM_022124.6:c.9805_9808del, NM_022124.5:c.9805_9808del, NM_001171933.1:c.3085_3088del, NM_001171934.1:c.2980_2983del, NM_001171935.1:c.496_499del, NM_001171936.1:c.391_394del, NG_009301.1:g.41306_41309del, NP_071407.4:p.Arg3269fs, NP_001165404.1:p.Arg1029fs, NP_001165405.1:p.Arg994fs, NP_001165406.1:p.Arg166fs, NP_001165407.1:p.Arg131fs

Select item 14859303232.

rs1485930323 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 10:71811895 (GRCh38)
10:73571652 (GRCh37)
Canonical SPDI:: NC_000010.11:71811892:CAACA:CA
Gene:: CDH23 (Varview), LOC124902446 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0./0 (ALFA)
-=0.00031/2 (1000Genomes)
HGVS:: NC_000010.11:g.71811895_71811897del, NC_000010.10:g.73571652_73571654del, NG_008835.1:g.419949_419951del, NM_001171935.1:c.-397_-395del, NM_001171936.1:c.-397_-395del, XR_007062185.1:n.864_866del

Select item 14831267973.

rs1483126797 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGACCTGTG [Show Flanks]
Chromosome:: 10:71812578 (GRCh38)
10:73572336 (GRCh37)
Canonical SPDI:: NC_000010.11:71812578:CGACCTGTG:CGACCTGTGCGACCTGTG
Gene:: CDH23 (Varview), LOC124902446 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: CGACCTGTG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.71812579_71812587dup, NC_000010.10:g.73572336_73572344dup, NG_008835.1:g.420633_420641dup, NM_022124.6:c.9480_9488dup, NM_022124.5:c.9480_9488dup, NM_001171933.1:c.2760_2768dup, NM_001171934.1:c.2760_2768dup, NM_001171935.1:c.171_179dup, NM_001171936.1:c.171_179dup, XR_007062185.1:n.172_180dup, NP_071407.4:p.Trp3163_Asn3164insCysAspLeu, NP_001165404.1:p.Trp923_Asn924insCysAspLeu, NP_001165405.1:p.Trp923_Asn924insCysAspLeu, NP_001165406.1:p.Trp60_Asn61insCysAspLeu, NP_001165407.1:p.Trp60_Asn61insCysAspLeu

Select item 14826446554.

rs1482644655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:71815634 (GRCh38)
10:73575391 (GRCh37)
Canonical SPDI:: NC_000010.11:71815633:C:T
Gene:: CDH23 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.71815634C>T, NC_000010.10:g.73575391C>T, NG_008835.1:g.423688C>T, NM_022124.6:c.*356C>T, NM_022124.5:c.*356C>T, NM_001171933.1:c.*356C>T, NM_001171934.1:c.*356C>T, NM_001171935.1:c.*356C>T, NM_001171936.1:c.*356C>T, NG_009301.1:g.40692G>A

Select item 14824532765.

rs1482453276 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:71815863 (GRCh38)
10:73575620 (GRCh37)
Canonical SPDI:: NC_000010.11:71815862:T:C
Gene:: PSAP (Varview), CDH23 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.71815863T>C, NC_000010.10:g.73575620T>C, NG_008835.1:g.423917T>C, NM_022124.6:c.*585T>C, NM_022124.5:c.*585T>C, NM_001171933.1:c.*585T>C, NM_001171934.1:c.*585T>C, NM_001171935.1:c.*585T>C, NM_001171936.1:c.*585T>C, NG_009301.1:g.40463A>G

Select item 14793235576.

rs1479323557 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:71814996 (GRCh38)
10:73574753 (GRCh37)
Canonical SPDI:: NC_000010.11:71814995:A:G
Gene:: CDH23 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.71814996A>G, NC_000010.10:g.73574753A>G, NG_008835.1:g.423050A>G, NM_022124.6:c.9783A>G, NM_022124.5:c.9783A>G, NM_001171933.1:c.3063A>G, NM_001171934.1:c.2958A>G, NM_001171935.1:c.474A>G, NM_001171936.1:c.369A>G, NG_009301.1:g.41330T>C

Select item 14785403377.

rs1478540337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:71812597 (GRCh38)
10:73572354 (GRCh37)
Canonical SPDI:: NC_000010.11:71812596:C:G
Gene:: CDH23 (Varview), LOC124902446 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.71812597C>G, NC_000010.10:g.73572354C>G, NG_008835.1:g.420651C>G, NM_022124.6:c.9498C>G, NM_022124.5:c.9498C>G, NM_001171933.1:c.2778C>G, NM_001171934.1:c.2778C>G, NM_001171935.1:c.189C>G, NM_001171936.1:c.189C>G, XR_007062185.1:n.162G>C

Select item 14779391198.

rs1477939119 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:71815377 (GRCh38)
10:73575134 (GRCh37)
Canonical SPDI:: NC_000010.11:71815376:G:A,NC_000010.11:71815376:G:T
Gene:: CDH23 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000010.11:g.71815377G>A, NC_000010.11:g.71815377G>T, NC_000010.10:g.73575134G>A, NC_000010.10:g.73575134G>T, NG_008835.1:g.423431G>A, NG_008835.1:g.423431G>T, NM_022124.6:c.*99G>A, NM_022124.6:c.*99G>T, NM_022124.5:c.*99G>A, NM_022124.5:c.*99G>T, NM_001171933.1:c.*99G>A, NM_001171933.1:c.*99G>T, NM_001171934.1:c.*99G>A, NM_001171934.1:c.*99G>T, NM_001171935.1:c.*99G>A, NM_001171935.1:c.*99G>T, NM_001171936.1:c.*99G>A, NM_001171936.1:c.*99G>T, NG_009301.1:g.40949C>T, NG_009301.1:g.40949C>A

Select item 14778525529.

rs1477852552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:71812220 (GRCh38)
10:73571977 (GRCh37)
Canonical SPDI:: NC_000010.11:71812219:G:A
Gene:: CDH23 (Varview), LOC124902446 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.71812220G>A, NC_000010.10:g.73571977G>A, NG_008835.1:g.420274G>A, NM_001171935.1:c.-72G>A, NM_001171936.1:c.-72G>A, XR_007062185.1:n.539C>T

Select item 147713123910.

rs1477131239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:71812346 (GRCh38)
10:73572103 (GRCh37)
Canonical SPDI:: NC_000010.11:71812345:A:G
Gene:: CDH23 (Varview), LOC124902446 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.71812346A>G, NC_000010.10:g.73572103A>G, NG_008835.1:g.420400A>G, NM_001171935.1:c.55A>G, NM_001171936.1:c.55A>G, XR_007062185.1:n.413T>C, NP_001165406.1:p.Arg19Gly, NP_001165407.1:p.Arg19Gly

Select item 147687750911.

rs1476877509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:71812331 (GRCh38)
10:73572088 (GRCh37)
Canonical SPDI:: NC_000010.11:71812330:T:C
Gene:: CDH23 (Varview), LOC124902446 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.71812331T>C, NC_000010.10:g.73572088T>C, NG_008835.1:g.420385T>C, NM_001171935.1:c.40T>C, NM_001171936.1:c.40T>C, XR_007062185.1:n.428A>G, NP_001165406.1:p.Cys14Arg, NP_001165407.1:p.Cys14Arg

Select item 147546858812.

rs1475468588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:71812877 (GRCh38)
10:73572634 (GRCh37)
Canonical SPDI:: NC_000010.11:71812876:A:C
Gene:: CDH23 (Varview), LOC124902446 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.71812877A>C, NC_000010.10:g.73572634A>C, NG_008835.1:g.420931A>C, NM_022124.6:c.9620A>C, NM_022124.5:c.9620A>C, NM_001171933.1:c.2900A>C, NM_001171934.1:c.2900A>C, NM_001171935.1:c.311A>C, NM_001171936.1:c.311A>C, NP_071407.4:p.Glu3207Ala, NP_001165404.1:p.Glu967Ala, NP_001165405.1:p.Glu967Ala, NP_001165406.1:p.Glu104Ala, NP_001165407.1:p.Glu104Ala

Select item 147531181413.

rs1475311814 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:71815247 (GRCh38)
10:73575004 (GRCh37)
Canonical SPDI:: NC_000010.11:71815246:T:C
Gene:: CDH23 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.71815247T>C, NC_000010.10:g.73575004T>C, NG_008835.1:g.423301T>C, NM_022124.6:c.10034T>C, NM_022124.5:c.10034T>C, NM_001171933.1:c.3314T>C, NM_001171934.1:c.3209T>C, NM_001171935.1:c.725T>C, NM_001171936.1:c.620T>C, NG_009301.1:g.41079A>G, NP_071407.4:p.Met3345Thr, NP_001165404.1:p.Met1105Thr, NP_001165405.1:p.Met1070Thr, NP_001165406.1:p.Met242Thr, NP_001165407.1:p.Met207Thr

Select item 147060620414.

rs1470606204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:71815369 (GRCh38)
10:73575126 (GRCh37)
Canonical SPDI:: NC_000010.11:71815368:C:A
Gene:: CDH23 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000010.11:g.71815369C>A, NC_000010.10:g.73575126C>A, NG_008835.1:g.423423C>A, NM_022124.6:c.*91C>A, NM_022124.5:c.*91C>A, NM_001171933.1:c.*91C>A, NM_001171934.1:c.*91C>A, NM_001171935.1:c.*91C>A, NM_001171936.1:c.*91C>A, NG_009301.1:g.40957G>T

Select item 147047267215.

rs1470472672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 10:71815621 (GRCh38)
10:73575378 (GRCh37)
Canonical SPDI:: NC_000010.11:71815620:C:A,NC_000010.11:71815620:C:G
Gene:: CDH23 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.71815621C>A, NC_000010.11:g.71815621C>G, NC_000010.10:g.73575378C>A, NC_000010.10:g.73575378C>G, NG_008835.1:g.423675C>A, NG_008835.1:g.423675C>G, NM_022124.6:c.*343C>A, NM_022124.6:c.*343C>G, NM_022124.5:c.*343C>A, NM_022124.5:c.*343C>G, NM_001171933.1:c.*343C>A, NM_001171933.1:c.*343C>G, NM_001171934.1:c.*343C>A, NM_001171934.1:c.*343C>G, NM_001171935.1:c.*343C>A, NM_001171935.1:c.*343C>G, NM_001171936.1:c.*343C>A, NM_001171936.1:c.*343C>G, NG_009301.1:g.40705G>T, NG_009301.1:g.40705G>C

Select item 146545891616.

rs1465458916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:71812881 (GRCh38)
10:73572638 (GRCh37)
Canonical SPDI:: NC_000010.11:71812880:G:A
Gene:: CDH23 (Varview), LOC124902446 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000010.11:g.71812881G>A, NC_000010.10:g.73572638G>A, NG_008835.1:g.420935G>A, NM_022124.6:c.9624G>A, NM_022124.5:c.9624G>A, NM_001171933.1:c.2904G>A, NM_001171934.1:c.2904G>A, NM_001171935.1:c.315G>A, NM_001171936.1:c.315G>A

Select item 145970057117.

rs1459700571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:71815107 (GRCh38)
10:73574864 (GRCh37)
Canonical SPDI:: NC_000010.11:71815106:C:A,NC_000010.11:71815106:C:T
Gene:: CDH23 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000010.11:g.71815107C>A, NC_000010.11:g.71815107C>T, NC_000010.10:g.73574864C>A, NC_000010.10:g.73574864C>T, NG_008835.1:g.423161C>A, NG_008835.1:g.423161C>T, NM_022124.6:c.9894C>A, NM_022124.6:c.9894C>T, NM_022124.5:c.9894C>A, NM_022124.5:c.9894C>T, NM_001171933.1:c.3174C>A, NM_001171933.1:c.3174C>T, NM_001171934.1:c.3069C>A, NM_001171934.1:c.3069C>T, NM_001171935.1:c.585C>A, NM_001171935.1:c.585C>T, NM_001171936.1:c.480C>A, NM_001171936.1:c.480C>T, NG_009301.1:g.41219G>T, NG_009301.1:g.41219G>A, NP_071407.4:p.Asn3298Lys, NP_001165404.1:p.Asn1058Lys, NP_001165405.1:p.Asn1023Lys, NP_001165406.1:p.Asn195Lys, NP_001165407.1:p.Asn160Lys

Select item 145951506418.

rs1459515064 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:71812491 (GRCh38)
10:73572248 (GRCh37)
Canonical SPDI:: NC_000010.11:71812490:T:A,NC_000010.11:71812490:T:C
Gene:: CDH23 (Varview), LOC124902446 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.71812491T>A, NC_000010.11:g.71812491T>C, NC_000010.10:g.73572248T>A, NC_000010.10:g.73572248T>C, NG_008835.1:g.420545T>A, NG_008835.1:g.420545T>C, NM_022124.6:c.9392T>A, NM_022124.6:c.9392T>C, NM_022124.5:c.9392T>A, NM_022124.5:c.9392T>C, NM_001171933.1:c.2672T>A, NM_001171933.1:c.2672T>C, NM_001171934.1:c.2672T>A, NM_001171934.1:c.2672T>C, NM_001171935.1:c.83T>A, NM_001171935.1:c.83T>C, NM_001171936.1:c.83T>A, NM_001171936.1:c.83T>C, XR_007062185.1:n.268A>T, XR_007062185.1:n.268A>G, NP_071407.4:p.Val3131Glu, NP_071407.4:p.Val3131Ala, NP_001165404.1:p.Val891Glu, NP_001165404.1:p.Val891Ala, NP_001165405.1:p.Val891Glu, NP_001165405.1:p.Val891Ala, NP_001165406.1:p.Val28Glu, NP_001165406.1:p.Val28Ala, NP_001165407.1:p.Val28Glu, NP_001165407.1:p.Val28Ala

Select item 145642930719.

rs1456429307 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 10:71811900 (GRCh38)
10:73571657 (GRCh37)
Canonical SPDI:: NC_000010.11:71811899:A:C,NC_000010.11:71811899:A:T
Gene:: CDH23 (Varview), LOC124902446 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00702/83 (ALFA)
C=0.00053/15 (TOMMO)
C=0.00219/4 (Korea1K)
C=0.04859/141 (KOREAN)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.71811900A>C, NC_000010.11:g.71811900A>T, NC_000010.10:g.73571657A>C, NC_000010.10:g.73571657A>T, NG_008835.1:g.419954A>C, NG_008835.1:g.419954A>T, NM_001171935.1:c.-392A>C, NM_001171935.1:c.-392A>T, NM_001171936.1:c.-392A>C, NM_001171936.1:c.-392A>T, XR_007062185.1:n.859T>G, XR_007062185.1:n.859T>A

Select item 145630715720.

rs1456307157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:71812857 (GRCh38)
10:73572614 (GRCh37)
Canonical SPDI:: NC_000010.11:71812856:G:A,NC_000010.11:71812856:G:C
Gene:: CDH23 (Varview), LOC124902446 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000010.11:g.71812857G>A, NC_000010.11:g.71812857G>C, NC_000010.10:g.73572614G>A, NC_000010.10:g.73572614G>C, NG_008835.1:g.420911G>A, NG_008835.1:g.420911G>C, NM_022124.6:c.9600G>A, NM_022124.6:c.9600G>C, NM_022124.5:c.9600G>A, NM_022124.5:c.9600G>C, NM_001171933.1:c.2880G>A, NM_001171933.1:c.2880G>C, NM_001171934.1:c.2880G>A, NM_001171934.1:c.2880G>C, NM_001171935.1:c.291G>A, NM_001171935.1:c.291G>C, NM_001171936.1:c.291G>A, NM_001171936.1:c.291G>C, NP_071407.4:p.Lys3200Asn, NP_001165404.1:p.Lys960Asn, NP_001165405.1:p.Lys960Asn, NP_001165406.1:p.Lys97Asn, NP_001165407.1:p.Lys97Asn

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