SNP Links for Nucleotide (Select 256600243) - SNP

Links from Nucleotide

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Select item 14915824561.

rs1491582456 has merged into rs4033003 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 5:83562671 (GRCh38)
5:82858490 (GRCh37)
Canonical SPDI:: NC_000005.10:83562661:AAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:83562661:AAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:83562661:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:83562661:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:83562661:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:83562661:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:83562661:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:83562661:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: VCAN (Varview), VCAN-AS1 (Varview), LOC124901021 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.0693/90 (1000Genomes)
-=0.2608/1005 (ALSPAC)
HGVS:: NC_000005.10:g.83562671_83562673del, NC_000005.10:g.83562672_83562673del, NC_000005.10:g.83562673del, NC_000005.10:g.83562673dup, NC_000005.10:g.83562672_83562673dup, NC_000005.10:g.83562671_83562673dup, NC_000005.10:g.83562670_83562673dup, NC_000005.10:g.83562669_83562673dup, NC_000005.9:g.82858490_82858492del, NC_000005.9:g.82858491_82858492del, NC_000005.9:g.82858492del, NC_000005.9:g.82858492dup, NC_000005.9:g.82858491_82858492dup, NC_000005.9:g.82858490_82858492dup, NC_000005.9:g.82858489_82858492dup, NC_000005.9:g.82858488_82858492dup, NG_012682.1:g.95961_95963del, NG_012682.1:g.95962_95963del, NG_012682.1:g.95963del, NG_012682.1:g.95963dup, NG_012682.1:g.95962_95963dup, NG_012682.1:g.95961_95963dup, NG_012682.1:g.95960_95963dup, NG_012682.1:g.95959_95963dup, XR_007058847.1:n.457_459del, XR_007058847.1:n.458_459del, XR_007058847.1:n.459del, XR_007058847.1:n.459dup, XR_007058847.1:n.458_459dup, XR_007058847.1:n.457_459dup, XR_007058847.1:n.456_459dup, XR_007058847.1:n.455_459dup

Select item 14915562102.

rs1491556210 has merged into rs56718452 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAACCAAAATAAAAAAAAAAAATAAAAAAAAAAAAAAAAA,AAAACACAACAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAA,AAATAACAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:83529349 (GRCh38)
5:82825168 (GRCh37)
Canonical SPDI:: NC_000005.10:83529336:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:83529336:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:83529336:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:83529336:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:83529336:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:83529336:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAACCAAAATAAAAAAAAAAAATAAAAAAAAAAAAAAAAA,NC_000005.10:83529336:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAACACAACAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAA,NC_000005.10:83529336:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAATAACAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: VCAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000005.10:g.83529349_83529351del, NC_000005.10:g.83529350_83529351del, NC_000005.10:g.83529351del, NC_000005.10:g.83529351dup, NC_000005.10:g.83529350_83529351dup, NC_000005.10:g.83529337_83529351A[17]CCAAAATAAAAAAAAAAAATAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.83529337_83529351A[16]CA[2]ACAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.83529337_83529351A[15]TAACAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.82825168_82825170del, NC_000005.9:g.82825169_82825170del, NC_000005.9:g.82825170del, NC_000005.9:g.82825170dup, NC_000005.9:g.82825169_82825170dup, NC_000005.9:g.82825156_82825170A[17]CCAAAATAAAAAAAAAAAATAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.82825156_82825170A[16]CA[2]ACAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.82825156_82825170A[15]TAACAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012682.1:g.62639_62641del, NG_012682.1:g.62640_62641del, NG_012682.1:g.62641del, NG_012682.1:g.62641dup, NG_012682.1:g.62640_62641dup, NG_012682.1:g.62627_62641A[17]CCAAAATAAAAAAAAAAAATAAAAAAAAAAAAAAAAA[1], NG_012682.1:g.62627_62641A[16]CA[2]ACAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAA[1], NG_012682.1:g.62627_62641A[15]TAACAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14915515353.

rs1491551535 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 5:83529030 (GRCh38)
5:82824849 (GRCh37)
Canonical SPDI:: NC_000005.10:83529025:ATATAT:ATAT,NC_000005.10:83529025:ATATAT:ATATATAT
Gene:: VCAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.000061/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000005.10:g.83529026AT[2], NC_000005.10:g.83529026AT[4], NC_000005.9:g.82824845AT[2], NC_000005.9:g.82824845AT[4], NG_012682.1:g.62316AT[2], NG_012682.1:g.62316AT[4]

Select item 14915378584.

rs1491537858 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:83523670 (GRCh38)
5:82819490 (GRCh37)
Canonical SPDI:: NC_000005.10:83523670:A:AA
Gene:: VCAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.83523671dup, NC_000005.9:g.82819490dup, NG_012682.1:g.56961dup

Select item 14914612435.

rs1491461243 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:83529336 (GRCh38)
5:82825155 (GRCh37)
Canonical SPDI:: NC_000005.10:83529335:GA:
Gene:: VCAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.83529336_83529337del, NC_000005.9:g.82825155_82825156del, NG_012682.1:g.62626_62627del

Select item 14913820996.

rs1491382099 has merged into rs57081110 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:83550896 (GRCh38)
5:82846715 (GRCh37)
Canonical SPDI:: NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:83550887:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.83550896_83550908del, NC_000005.10:g.83550899_83550908del, NC_000005.10:g.83550901_83550908del, NC_000005.10:g.83550902_83550908del, NC_000005.10:g.83550903_83550908del, NC_000005.10:g.83550904_83550908del, NC_000005.10:g.83550905_83550908del, NC_000005.10:g.83550906_83550908del, NC_000005.10:g.83550907_83550908del, NC_000005.10:g.83550908del, NC_000005.10:g.83550908dup, NC_000005.10:g.83550907_83550908dup, NC_000005.10:g.83550906_83550908dup, NC_000005.10:g.83550905_83550908dup, NC_000005.10:g.83550904_83550908dup, NC_000005.10:g.83550903_83550908dup, NC_000005.10:g.83550902_83550908dup, NC_000005.10:g.83550901_83550908dup, NC_000005.10:g.83550900_83550908dup, NC_000005.10:g.83550899_83550908dup, NC_000005.10:g.83550898_83550908dup, NC_000005.9:g.82846715_82846727del, NC_000005.9:g.82846718_82846727del, NC_000005.9:g.82846720_82846727del, NC_000005.9:g.82846721_82846727del, NC_000005.9:g.82846722_82846727del, NC_000005.9:g.82846723_82846727del, NC_000005.9:g.82846724_82846727del, NC_000005.9:g.82846725_82846727del, NC_000005.9:g.82846726_82846727del, NC_000005.9:g.82846727del, NC_000005.9:g.82846727dup, NC_000005.9:g.82846726_82846727dup, NC_000005.9:g.82846725_82846727dup, NC_000005.9:g.82846724_82846727dup, NC_000005.9:g.82846723_82846727dup, NC_000005.9:g.82846722_82846727dup, NC_000005.9:g.82846721_82846727dup, NC_000005.9:g.82846720_82846727dup, NC_000005.9:g.82846719_82846727dup, NC_000005.9:g.82846718_82846727dup, NC_000005.9:g.82846717_82846727dup, NG_012682.1:g.84186_84198del, NG_012682.1:g.84189_84198del, NG_012682.1:g.84191_84198del, NG_012682.1:g.84192_84198del, NG_012682.1:g.84193_84198del, NG_012682.1:g.84194_84198del, NG_012682.1:g.84195_84198del, NG_012682.1:g.84196_84198del, NG_012682.1:g.84197_84198del, NG_012682.1:g.84198del, NG_012682.1:g.84198dup, NG_012682.1:g.84197_84198dup, NG_012682.1:g.84196_84198dup, NG_012682.1:g.84195_84198dup, NG_012682.1:g.84194_84198dup, NG_012682.1:g.84193_84198dup, NG_012682.1:g.84192_84198dup, NG_012682.1:g.84191_84198dup, NG_012682.1:g.84190_84198dup, NG_012682.1:g.84189_84198dup, NG_012682.1:g.84188_84198dup

Select item 14912313497.

rs1491231349 has merged into rs57400723 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:83514442 (GRCh38)
5:82810261 (GRCh37)
Canonical SPDI:: NC_000005.10:83514428:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000005.10:83514428:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000005.10:83514428:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000005.10:83514428:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000005.10:83514428:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000005.10:83514428:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:83514428:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:83514428:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:83514428:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: VCAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.2/8 (GENOME_DK)
TG=0.3367/336 (GoNL)
HGVS:: NC_000005.10:g.83514430GT[6], NC_000005.10:g.83514430GT[7], NC_000005.10:g.83514430GT[8], NC_000005.10:g.83514430GT[9], NC_000005.10:g.83514430GT[10], NC_000005.10:g.83514430GT[12], NC_000005.10:g.83514430GT[13], NC_000005.10:g.83514430GT[14], NC_000005.10:g.83514430GT[15], NC_000005.9:g.82810249GT[6], NC_000005.9:g.82810249GT[7], NC_000005.9:g.82810249GT[8], NC_000005.9:g.82810249GT[9], NC_000005.9:g.82810249GT[10], NC_000005.9:g.82810249GT[12], NC_000005.9:g.82810249GT[13], NC_000005.9:g.82810249GT[14], NC_000005.9:g.82810249GT[15], NG_012682.1:g.47720GT[6], NG_012682.1:g.47720GT[7], NG_012682.1:g.47720GT[8], NG_012682.1:g.47720GT[9], NG_012682.1:g.47720GT[10], NG_012682.1:g.47720GT[12], NG_012682.1:g.47720GT[13], NG_012682.1:g.47720GT[14], NG_012682.1:g.47720GT[15]

Select item 14912246428.

rs1491224642 [Homo sapiens]

Variant type:: INS
Alleles:: ->CACACACACG,CACACACG [Show Flanks]
Chromosome:: 5:83529026 (GRCh38)
5:82824846 (GRCh37)
Canonical SPDI:: NC_000005.10:83529026::CACACACACG,NC_000005.10:83529026::CACACACG
Gene:: VCAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACG=0./0 (ALFA)
HGVS:: NC_000005.10:g.83529026_83529027insCACACACACG, NC_000005.10:g.83529026_83529027insCACACACG, NC_000005.9:g.82824845_82824846insCACACACACG, NC_000005.9:g.82824845_82824846insCACACACG, NG_012682.1:g.62316_62317insCACACACACG, NG_012682.1:g.62316_62317insCACACACG

Select item 14911903949.

rs1491190394 has merged into rs11389823 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 5:83489822 (GRCh38)
5:82785641 (GRCh37)
Canonical SPDI:: NC_000005.10:83489811:TTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:83489811:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:83489811:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:83489811:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:83489811:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: VCAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0.0004/2 (ALFA)
-=0.4716/1679 (1000Genomes)
HGVS:: NC_000005.10:g.83489822_83489823del, NC_000005.10:g.83489823del, NC_000005.10:g.83489823dup, NC_000005.10:g.83489822_83489823dup, NC_000005.10:g.83489821_83489823dup, NC_000005.9:g.82785641_82785642del, NC_000005.9:g.82785642del, NC_000005.9:g.82785642dup, NC_000005.9:g.82785641_82785642dup, NC_000005.9:g.82785640_82785642dup, NG_012682.1:g.23112_23113del, NG_012682.1:g.23113del, NG_012682.1:g.23113dup, NG_012682.1:g.23112_23113dup, NG_012682.1:g.23111_23113dup

Select item 149114652510.

rs1491146525 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:83523672 (GRCh38)
5:82819491 (GRCh37)
Canonical SPDI:: NC_000005.10:83523669:CACA:CA
Gene:: VCAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.83523670CA[1], NC_000005.9:g.82819489CA[1], NG_012682.1:g.56960CA[1]

Select item 149107944011.

rs1491079440 has merged into rs58804437 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 5:83529007 (GRCh38)
5:82824826 (GRCh37)
Canonical SPDI:: NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:83528989:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: VCAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000005.10:g.83528991CA[8], NC_000005.10:g.83528991CA[10], NC_000005.10:g.83528991CA[11], NC_000005.10:g.83528991CA[12], NC_000005.10:g.83528991CA[13], NC_000005.10:g.83528991CA[14], NC_000005.10:g.83528991CA[15], NC_000005.10:g.83528991CA[16], NC_000005.10:g.83528991CA[17], NC_000005.10:g.83528991CA[19], NC_000005.10:g.83528991CA[20], NC_000005.10:g.83528991CA[21], NC_000005.10:g.83528991CA[22], NC_000005.10:g.83528991CA[23], NC_000005.10:g.83528991CA[24], NC_000005.10:g.83528991CA[25], NC_000005.10:g.83528991CA[26], NC_000005.10:g.83528991CA[27], NC_000005.10:g.83528991CA[28], NC_000005.10:g.83528991CA[29], NC_000005.10:g.83528991CA[30], NC_000005.9:g.82824810CA[8], NC_000005.9:g.82824810CA[10], NC_000005.9:g.82824810CA[11], NC_000005.9:g.82824810CA[12], NC_000005.9:g.82824810CA[13], NC_000005.9:g.82824810CA[14], NC_000005.9:g.82824810CA[15], NC_000005.9:g.82824810CA[16], NC_000005.9:g.82824810CA[17], NC_000005.9:g.82824810CA[19], NC_000005.9:g.82824810CA[20], NC_000005.9:g.82824810CA[21], NC_000005.9:g.82824810CA[22], NC_000005.9:g.82824810CA[23], NC_000005.9:g.82824810CA[24], NC_000005.9:g.82824810CA[25], NC_000005.9:g.82824810CA[26], NC_000005.9:g.82824810CA[27], NC_000005.9:g.82824810CA[28], NC_000005.9:g.82824810CA[29], NC_000005.9:g.82824810CA[30], NG_012682.1:g.62281CA[8], NG_012682.1:g.62281CA[10], NG_012682.1:g.62281CA[11], NG_012682.1:g.62281CA[12], NG_012682.1:g.62281CA[13], NG_012682.1:g.62281CA[14], NG_012682.1:g.62281CA[15], NG_012682.1:g.62281CA[16], NG_012682.1:g.62281CA[17], NG_012682.1:g.62281CA[19], NG_012682.1:g.62281CA[20], NG_012682.1:g.62281CA[21], NG_012682.1:g.62281CA[22], NG_012682.1:g.62281CA[23], NG_012682.1:g.62281CA[24], NG_012682.1:g.62281CA[25], NG_012682.1:g.62281CA[26], NG_012682.1:g.62281CA[27], NG_012682.1:g.62281CA[28], NG_012682.1:g.62281CA[29], NG_012682.1:g.62281CA[30]

Select item 149107120912.

rs1491071209 has merged into rs557999767 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 5:83504397 (GRCh38)
5:82800216 (GRCh37)
Canonical SPDI:: NC_000005.10:83504384:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:83504384:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:83504384:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:83504384:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:83504384:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:83504384:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:83504384:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:83504384:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:83504384:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: VCAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.03167/19 (NorthernSweden)
-=0.15/6 (GENOME_DK)
T=0.375/3 (KOREAN)
HGVS:: NC_000005.10:g.83504397_83504402del, NC_000005.10:g.83504399_83504402del, NC_000005.10:g.83504400_83504402del, NC_000005.10:g.83504401_83504402del, NC_000005.10:g.83504402del, NC_000005.10:g.83504402dup, NC_000005.10:g.83504401_83504402dup, NC_000005.10:g.83504400_83504402dup, NC_000005.10:g.83504399_83504402dup, NC_000005.9:g.82800216_82800221del, NC_000005.9:g.82800218_82800221del, NC_000005.9:g.82800219_82800221del, NC_000005.9:g.82800220_82800221del, NC_000005.9:g.82800221del, NC_000005.9:g.82800221dup, NC_000005.9:g.82800220_82800221dup, NC_000005.9:g.82800219_82800221dup, NC_000005.9:g.82800218_82800221dup, NG_012682.1:g.37687_37692del, NG_012682.1:g.37689_37692del, NG_012682.1:g.37690_37692del, NG_012682.1:g.37691_37692del, NG_012682.1:g.37692del, NG_012682.1:g.37692dup, NG_012682.1:g.37691_37692dup, NG_012682.1:g.37690_37692dup, NG_012682.1:g.37689_37692dup

Select item 149105135413.

rs1491051354 has merged into rs35874300 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 5:83560016 (GRCh38)
5:82855835 (GRCh37)
Canonical SPDI:: NC_000005.10:83560004:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:83560004:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:83560004:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:83560004:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:83560004:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2237/992 (1000Genomes)
HGVS:: NC_000005.10:g.83560016_83560017del, NC_000005.10:g.83560017del, NC_000005.10:g.83560017dup, NC_000005.10:g.83560016_83560017dup, NC_000005.10:g.83560015_83560017dup, NC_000005.9:g.82855835_82855836del, NC_000005.9:g.82855836del, NC_000005.9:g.82855836dup, NC_000005.9:g.82855835_82855836dup, NC_000005.9:g.82855834_82855836dup, NG_012682.1:g.93306_93307del, NG_012682.1:g.93307del, NG_012682.1:g.93307dup, NG_012682.1:g.93306_93307dup, NG_012682.1:g.93305_93307dup

Select item 149098411014.

rs1490984110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:83484351 (GRCh38)
5:82780170 (GRCh37)
Canonical SPDI:: NC_000005.10:83484350:C:T
Gene:: VCAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.83484351C>T, NC_000005.9:g.82780170C>T, NG_012682.1:g.17641C>T

Select item 149090084015.

rs1490900840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:83576812 (GRCh38)
5:82872631 (GRCh37)
Canonical SPDI:: NC_000005.10:83576811:T:A
Gene:: VCAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.83576812T>A, NC_000005.9:g.82872631T>A, NG_012682.1:g.110102T>A

Select item 149089831616.

rs1490898316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:83517578 (GRCh38)
5:82813397 (GRCh37)
Canonical SPDI:: NC_000005.10:83517577:G:A
Gene:: VCAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.83517578G>A, NC_000005.9:g.82813397G>A, NG_012682.1:g.50868G>A

Select item 149084100917.

rs1490841009 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:83555990 (GRCh38)
5:82851809 (GRCh37)
Canonical SPDI:: NC_000005.10:83555989:T:A
Gene:: VCAN (Varview), VCAN-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.83555990T>A, NC_000005.9:g.82851809T>A, NG_012682.1:g.89280T>A

Select item 149080132118.

rs1490801321 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 5:83583801 (GRCh38)
5:82879620 (GRCh37)
Canonical SPDI:: NC_000005.10:83583800:TTT:TT
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000045/12 (TOPMED)
HGVS:: NC_000005.10:g.83583803del, NC_000005.9:g.82879622del, NG_012682.1:g.117093del

Select item 149079732419.

rs1490797324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:83492457 (GRCh38)
5:82788276 (GRCh37)
Canonical SPDI:: NC_000005.10:83492456:C:T
Gene:: VCAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.83492457C>T, NC_000005.9:g.82788276C>T, NG_012682.1:g.25747C>T

Select item 149077181220.

rs1490771812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:83509274 (GRCh38)
5:82805093 (GRCh37)
Canonical SPDI:: NC_000005.10:83509273:A:G
Gene:: VCAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.83509274A>G, NC_000005.9:g.82805093A>G, NG_012682.1:g.42564A>G

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