SNP Links for Gene (Select 8434) - SNP

Links from Gene

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Select item 14915845621.

rs1491584562 has merged into rs398113450 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 9:36058816 (GRCh38)
9:36058813 (GRCh37)
Canonical SPDI:: NC_000009.12:36058805:TTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:36058805:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:36058805:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:36058805:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:36058805:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: RECK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0.00078/20 (ALFA)
T=0.06856/41 (NorthernSweden)
T=0.125/5 (GENOME_DK)
HGVS:: NC_000009.12:g.36058816_36058817del, NC_000009.12:g.36058817del, NC_000009.12:g.36058817dup, NC_000009.12:g.36058816_36058817dup, NC_000009.12:g.36058815_36058817dup, NC_000009.11:g.36058813_36058814del, NC_000009.11:g.36058814del, NC_000009.11:g.36058814dup, NC_000009.11:g.36058813_36058814dup, NC_000009.11:g.36058812_36058814dup

Select item 14915828972.

rs1491582897 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCACACACACAC [Show Flanks]
Chromosome:: 9:36061394 (GRCh38)
9:36061392 (GRCh37)
Canonical SPDI:: NC_000009.12:36061394:CACACACACAC:CACACACACACGCACACACACAC
Gene:: RECK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACACACACACGCACACACACAC=0./0 (ALFA)
HGVS:: NC_000009.12:g.36061395_36061405CA[5]CGCACACACACAC[1], NC_000009.11:g.36061392_36061402CA[5]CGCACACACACAC[1]

Select item 14915381043.

rs1491538104 has merged into rs60192603 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:36069490 (GRCh38)
9:36069487 (GRCh37)
Canonical SPDI:: NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36069480:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RECK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.3379/1692 (1000Genomes)
HGVS:: NC_000009.12:g.36069490_36069499del, NC_000009.12:g.36069491_36069499del, NC_000009.12:g.36069493_36069499del, NC_000009.12:g.36069494_36069499del, NC_000009.12:g.36069495_36069499del, NC_000009.12:g.36069496_36069499del, NC_000009.12:g.36069497_36069499del, NC_000009.12:g.36069498_36069499del, NC_000009.12:g.36069499del, NC_000009.12:g.36069499dup, NC_000009.12:g.36069498_36069499dup, NC_000009.12:g.36069497_36069499dup, NC_000009.12:g.36069496_36069499dup, NC_000009.12:g.36069495_36069499dup, NC_000009.12:g.36069494_36069499dup, NC_000009.12:g.36069493_36069499dup, NC_000009.12:g.36069491_36069499dup, NC_000009.12:g.36069484_36069499dup, NC_000009.11:g.36069487_36069496del, NC_000009.11:g.36069488_36069496del, NC_000009.11:g.36069490_36069496del, NC_000009.11:g.36069491_36069496del, NC_000009.11:g.36069492_36069496del, NC_000009.11:g.36069493_36069496del, NC_000009.11:g.36069494_36069496del, NC_000009.11:g.36069495_36069496del, NC_000009.11:g.36069496del, NC_000009.11:g.36069496dup, NC_000009.11:g.36069495_36069496dup, NC_000009.11:g.36069494_36069496dup, NC_000009.11:g.36069493_36069496dup, NC_000009.11:g.36069492_36069496dup, NC_000009.11:g.36069491_36069496dup, NC_000009.11:g.36069490_36069496dup, NC_000009.11:g.36069488_36069496dup, NC_000009.11:g.36069481_36069496dup

Select item 14914448304.

rs1491444830 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 9:36042423 (GRCh38)
9:36042420 (GRCh37)
Canonical SPDI:: NC_000009.12:36042422:AG:
Gene:: RECK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.36042423_36042424del, NC_000009.11:g.36042420_36042421del

Select item 14914218605.

rs1491421860 has merged into rs869033299 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:36104343 (GRCh38)
9:36104340 (GRCh37)
Canonical SPDI:: NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:36104326:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RECK (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTT=0.0008/1 (Korea1K)
HGVS:: NC_000009.12:g.36104343_36104363del, NC_000009.12:g.36104344_36104363del, NC_000009.12:g.36104345_36104363del, NC_000009.12:g.36104346_36104363del, NC_000009.12:g.36104347_36104363del, NC_000009.12:g.36104348_36104363del, NC_000009.12:g.36104349_36104363del, NC_000009.12:g.36104350_36104363del, NC_000009.12:g.36104351_36104363del, NC_000009.12:g.36104352_36104363del, NC_000009.12:g.36104353_36104363del, NC_000009.12:g.36104354_36104363del, NC_000009.12:g.36104355_36104363del, NC_000009.12:g.36104356_36104363del, NC_000009.12:g.36104357_36104363del, NC_000009.12:g.36104358_36104363del, NC_000009.12:g.36104359_36104363del, NC_000009.12:g.36104360_36104363del, NC_000009.12:g.36104361_36104363del, NC_000009.12:g.36104362_36104363del, NC_000009.12:g.36104363del, NC_000009.12:g.36104363dup, NC_000009.12:g.36104362_36104363dup, NC_000009.12:g.36104361_36104363dup, NC_000009.12:g.36104359_36104363dup, NC_000009.12:g.36104349_36104363dup, NC_000009.11:g.36104340_36104360del, NC_000009.11:g.36104341_36104360del, NC_000009.11:g.36104342_36104360del, NC_000009.11:g.36104343_36104360del, NC_000009.11:g.36104344_36104360del, NC_000009.11:g.36104345_36104360del, NC_000009.11:g.36104346_36104360del, NC_000009.11:g.36104347_36104360del, NC_000009.11:g.36104348_36104360del, NC_000009.11:g.36104349_36104360del, NC_000009.11:g.36104350_36104360del, NC_000009.11:g.36104351_36104360del, NC_000009.11:g.36104352_36104360del, NC_000009.11:g.36104353_36104360del, NC_000009.11:g.36104354_36104360del, NC_000009.11:g.36104355_36104360del, NC_000009.11:g.36104356_36104360del, NC_000009.11:g.36104357_36104360del, NC_000009.11:g.36104358_36104360del, NC_000009.11:g.36104359_36104360del, NC_000009.11:g.36104360del, NC_000009.11:g.36104360dup, NC_000009.11:g.36104359_36104360dup, NC_000009.11:g.36104358_36104360dup, NC_000009.11:g.36104356_36104360dup, NC_000009.11:g.36104346_36104360dup

Select item 14914192006.

rs1491419200 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:36112122 (GRCh38)
9:36112119 (GRCh37)
Canonical SPDI:: NC_000009.12:36112121:CA:
Gene:: RECK (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00076/9 (ALFA)
-=0.00032/9 (TOMMO)
HGVS:: NC_000009.12:g.36112122_36112123del, NC_000009.11:g.36112119_36112120del

Select item 14913988297.

rs1491398829 has merged into rs58265948 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 9:36061415 (GRCh38)
9:36061412 (GRCh37)
Canonical SPDI:: NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:36061393:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: RECK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACACA=0./0 (ALFA)
AC=0.0903/452 (1000Genomes)
HGVS:: NC_000009.12:g.36061395CA[10], NC_000009.12:g.36061395CA[11], NC_000009.12:g.36061395CA[12], NC_000009.12:g.36061395CA[13], NC_000009.12:g.36061395CA[14], NC_000009.12:g.36061395CA[15], NC_000009.12:g.36061395CA[16], NC_000009.12:g.36061395CA[17], NC_000009.12:g.36061395CA[18], NC_000009.12:g.36061395CA[19], NC_000009.12:g.36061395CA[20], NC_000009.12:g.36061395CA[21], NC_000009.12:g.36061395CA[23], NC_000009.12:g.36061395CA[24], NC_000009.12:g.36061395CA[25], NC_000009.12:g.36061395CA[26], NC_000009.12:g.36061395CA[27], NC_000009.12:g.36061395CA[28], NC_000009.12:g.36061395CA[29], NC_000009.12:g.36061395CA[30], NC_000009.12:g.36061395CA[31], NC_000009.12:g.36061395CA[32], NC_000009.12:g.36061395CA[33], NC_000009.12:g.36061395CA[34], NC_000009.12:g.36061395CA[35], NC_000009.12:g.36061395CA[36], NC_000009.11:g.36061392CA[10], NC_000009.11:g.36061392CA[11], NC_000009.11:g.36061392CA[12], NC_000009.11:g.36061392CA[13], NC_000009.11:g.36061392CA[14], NC_000009.11:g.36061392CA[15], NC_000009.11:g.36061392CA[16], NC_000009.11:g.36061392CA[17], NC_000009.11:g.36061392CA[18], NC_000009.11:g.36061392CA[19], NC_000009.11:g.36061392CA[20], NC_000009.11:g.36061392CA[21], NC_000009.11:g.36061392CA[23], NC_000009.11:g.36061392CA[24], NC_000009.11:g.36061392CA[25], NC_000009.11:g.36061392CA[26], NC_000009.11:g.36061392CA[27], NC_000009.11:g.36061392CA[28], NC_000009.11:g.36061392CA[29], NC_000009.11:g.36061392CA[30], NC_000009.11:g.36061392CA[31], NC_000009.11:g.36061392CA[32], NC_000009.11:g.36061392CA[33], NC_000009.11:g.36061392CA[34], NC_000009.11:g.36061392CA[35], NC_000009.11:g.36061392CA[36]

Select item 14913485668.

rs1491348566 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCAGCGGC [Show Flanks]
Chromosome:: 9:36036929 (GRCh38)
9:36036927 (GRCh37)
Canonical SPDI:: NC_000009.12:36036929:AGCGGCGGCAGCGGC:AGCGGCGGCAGCGGCGGCAGCGGC
Gene:: RECK (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGCGGCGGCAGCGGCGGCAGCGGC=0./0 (ALFA)
AGCGGCGGC=0.000022/3 (GnomAD)
AGCGGCGGC=0.000283/5 (TOMMO)
HGVS:: NC_000009.12:g.36036936_36036944dup, NC_000009.11:g.36036933_36036941dup, NM_021111.3:c.-63_-55dup, NM_021111.2:c.-63_-55dup, NM_001316345.2:c.-583_-575dup, NM_001316345.1:c.-583_-575dup, XM_017015207.2:c.-208_-200dup, XM_017015207.1:c.-208_-200dup, NM_001316348.2:c.-63_-55dup, NM_001316348.1:c.-63_-55dup, NM_001316346.2:c.-63_-55dup, NM_001316346.1:c.-63_-55dup, NM_001316347.2:c.-63_-55dup, NM_001316347.1:c.-63_-55dup

Select item 14913335599.

rs1491333559 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA [Show Flanks]
Chromosome:: 9:36104327 (GRCh38)
9:36104325 (GRCh37)
Canonical SPDI:: NC_000009.12:36104327::A,NC_000009.12:36104327::ATA,NC_000009.12:36104327::ATATA,NC_000009.12:36104327::ATATATA,NC_000009.12:36104327::ATATATATA,NC_000009.12:36104327::ATATATATATA,NC_000009.12:36104327::ATATATATATATA,NC_000009.12:36104327::ATATATATATATATA,NC_000009.12:36104327::ATATATATATATATATA
Gene:: RECK (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
ATATATATATA=0.00169/2 (Korea1K)
HGVS:: NC_000009.12:g.36104327_36104328insA, NC_000009.12:g.36104327_36104328insATA, NC_000009.12:g.36104327_36104328insATATA, NC_000009.12:g.36104327_36104328insATATATA, NC_000009.12:g.36104327_36104328insATATATATA, NC_000009.12:g.36104327_36104328insATATATATATA, NC_000009.12:g.36104327_36104328insATATATATATATA, NC_000009.12:g.36104327_36104328insATATATATATATATA, NC_000009.12:g.36104327_36104328insATATATATATATATATA, NC_000009.11:g.36104324_36104325insA, NC_000009.11:g.36104324_36104325insATA, NC_000009.11:g.36104324_36104325insATATA, NC_000009.11:g.36104324_36104325insATATATA, NC_000009.11:g.36104324_36104325insATATATATA, NC_000009.11:g.36104324_36104325insATATATATATA, NC_000009.11:g.36104324_36104325insATATATATATATA, NC_000009.11:g.36104324_36104325insATATATATATATATA, NC_000009.11:g.36104324_36104325insATATATATATATATATA

Select item 149130707210.

rs1491307072 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 9:36060288 (GRCh38)
9:36060285 (GRCh37)
Canonical SPDI:: NC_000009.12:36060287:AT:
Gene:: RECK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.36060288_36060289del, NC_000009.11:g.36060285_36060286del

Select item 149124308711.

rs1491243087 has merged into rs34425685 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:36107116 (GRCh38)
9:36107113 (GRCh37)
Canonical SPDI:: NC_000009.12:36107105:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:36107105:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:36107105:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:36107105:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:36107105:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:36107105:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:36107105:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:36107105:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:36107105:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:36107105:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:36107105:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36107105:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36107105:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36107105:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36107105:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RECK (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.413339/2070 (1000Genomes)
HGVS:: NC_000009.12:g.36107116_36107126del, NC_000009.12:g.36107117_36107126del, NC_000009.12:g.36107118_36107126del, NC_000009.12:g.36107119_36107126del, NC_000009.12:g.36107120_36107126del, NC_000009.12:g.36107122_36107126del, NC_000009.12:g.36107123_36107126del, NC_000009.12:g.36107124_36107126del, NC_000009.12:g.36107125_36107126del, NC_000009.12:g.36107126del, NC_000009.12:g.36107126dup, NC_000009.12:g.36107125_36107126dup, NC_000009.12:g.36107124_36107126dup, NC_000009.12:g.36107123_36107126dup, NC_000009.12:g.36107112_36107126dup, NC_000009.11:g.36107113_36107123del, NC_000009.11:g.36107114_36107123del, NC_000009.11:g.36107115_36107123del, NC_000009.11:g.36107116_36107123del, NC_000009.11:g.36107117_36107123del, NC_000009.11:g.36107119_36107123del, NC_000009.11:g.36107120_36107123del, NC_000009.11:g.36107121_36107123del, NC_000009.11:g.36107122_36107123del, NC_000009.11:g.36107123del, NC_000009.11:g.36107123dup, NC_000009.11:g.36107122_36107123dup, NC_000009.11:g.36107121_36107123dup, NC_000009.11:g.36107120_36107123dup, NC_000009.11:g.36107109_36107123dup

Select item 149117180212.

rs1491171802 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:36107105 (GRCh38)
9:36107102 (GRCh37)
Canonical SPDI:: NC_000009.12:36107104:CA:
Gene:: RECK (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000009.12:g.36107105_36107106del, NC_000009.11:g.36107102_36107103del

Select item 149114561413.

rs1491145614 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 9:36042426 (GRCh38)
9:36042424 (GRCh37)
Canonical SPDI:: NC_000009.12:36042426:T:TAT
Gene:: RECK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
TA=0.00006/2 (GnomAD)
HGVS:: NC_000009.12:g.36042427_36042428insAT, NC_000009.11:g.36042424_36042425insAT

Select item 149111465914.

rs1491114659 has merged into rs35193636 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 9:36042442 (GRCh38)
9:36042439 (GRCh37)
Canonical SPDI:: NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:36042423:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: RECK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.1775/684 (ALSPAC)
GTGT=0.4864/2436 (1000Genomes)
HGVS:: NC_000009.12:g.36042424GT[9], NC_000009.12:g.36042424GT[10], NC_000009.12:g.36042424GT[11], NC_000009.12:g.36042424GT[12], NC_000009.12:g.36042424GT[13], NC_000009.12:g.36042424GT[14], NC_000009.12:g.36042424GT[15], NC_000009.12:g.36042424GT[16], NC_000009.12:g.36042424GT[17], NC_000009.12:g.36042424GT[18], NC_000009.12:g.36042424GT[19], NC_000009.12:g.36042424GT[20], NC_000009.12:g.36042424GT[22], NC_000009.12:g.36042424GT[23], NC_000009.12:g.36042424GT[24], NC_000009.12:g.36042424GT[25], NC_000009.12:g.36042424GT[26], NC_000009.12:g.36042424GT[27], NC_000009.12:g.36042424GT[28], NC_000009.12:g.36042424GT[29], NC_000009.12:g.36042424GT[30], NC_000009.12:g.36042424GT[31], NC_000009.12:g.36042424GT[32], NC_000009.12:g.36042424GT[33], NC_000009.12:g.36042424GT[34], NC_000009.11:g.36042421GT[9], NC_000009.11:g.36042421GT[10], NC_000009.11:g.36042421GT[11], NC_000009.11:g.36042421GT[12], NC_000009.11:g.36042421GT[13], NC_000009.11:g.36042421GT[14], NC_000009.11:g.36042421GT[15], NC_000009.11:g.36042421GT[16], NC_000009.11:g.36042421GT[17], NC_000009.11:g.36042421GT[18], NC_000009.11:g.36042421GT[19], NC_000009.11:g.36042421GT[20], NC_000009.11:g.36042421GT[22], NC_000009.11:g.36042421GT[23], NC_000009.11:g.36042421GT[24], NC_000009.11:g.36042421GT[25], NC_000009.11:g.36042421GT[26], NC_000009.11:g.36042421GT[27], NC_000009.11:g.36042421GT[28], NC_000009.11:g.36042421GT[29], NC_000009.11:g.36042421GT[30], NC_000009.11:g.36042421GT[31], NC_000009.11:g.36042421GT[32], NC_000009.11:g.36042421GT[33], NC_000009.11:g.36042421GT[34]

Select item 149110857315.

rs1491108573 has merged into rs370999682 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:36038012 (GRCh38)
9:36038009 (GRCh37)
Canonical SPDI:: NC_000009.12:36038002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:36038002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:36038002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:36038002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:36038002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:36038002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:36038002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36038002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36038002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36038002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36038002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36038002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RECK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.36038012_36038021del, NC_000009.12:g.36038013_36038021del, NC_000009.12:g.36038019_36038021del, NC_000009.12:g.36038020_36038021del, NC_000009.12:g.36038021del, NC_000009.12:g.36038021dup, NC_000009.12:g.36038020_36038021dup, NC_000009.12:g.36038019_36038021dup, NC_000009.12:g.36038018_36038021dup, NC_000009.12:g.36038017_36038021dup, NC_000009.12:g.36038016_36038021dup, NC_000009.12:g.36038013_36038021dup, NC_000009.11:g.36038009_36038018del, NC_000009.11:g.36038010_36038018del, NC_000009.11:g.36038016_36038018del, NC_000009.11:g.36038017_36038018del, NC_000009.11:g.36038018del, NC_000009.11:g.36038018dup, NC_000009.11:g.36038017_36038018dup, NC_000009.11:g.36038016_36038018dup, NC_000009.11:g.36038015_36038018dup, NC_000009.11:g.36038014_36038018dup, NC_000009.11:g.36038013_36038018dup, NC_000009.11:g.36038010_36038018dup

Select item 149110331716.

rs1491103317 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:36038003 (GRCh38)
9:36038001 (GRCh37)
Canonical SPDI:: NC_000009.12:36038003::G
Gene:: RECK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.36038003_36038004insG, NC_000009.11:g.36038000_36038001insG

Select item 149109753117.

rs1491097531 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:36090527 (GRCh38)
9:36090525 (GRCh37)
Canonical SPDI:: NC_000009.12:36090527:T:TT
Gene:: RECK (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000009.12:g.36090528dup, NC_000009.11:g.36090525dup

Select item 149104964018.

rs1491049640 has merged into rs3070850 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACA>-,CA,CACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA [Show Flanks]
Chromosome:: 9:36096939 (GRCh38)
9:36096936 (GRCh37)
Canonical SPDI:: NC_000009.12:36096923:ACACACACACACACACACACA:ACACACACACACACA,NC_000009.12:36096923:ACACACACACACACACACACA:ACACACACACACACACA,NC_000009.12:36096923:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000009.12:36096923:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000009.12:36096923:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000009.12:36096923:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000009.12:36096923:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000009.12:36096923:ACACACACACACACACACACA:ACACACACACACACACACACACACACACACA
Gene:: RECK (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000009.12:g.36096925CA[7], NC_000009.12:g.36096925CA[8], NC_000009.12:g.36096925CA[9], NC_000009.12:g.36096925CA[11], NC_000009.12:g.36096925CA[12], NC_000009.12:g.36096925CA[13], NC_000009.12:g.36096925CA[14], NC_000009.12:g.36096925CA[15], NC_000009.11:g.36096922CA[7], NC_000009.11:g.36096922CA[8], NC_000009.11:g.36096922CA[9], NC_000009.11:g.36096922CA[11], NC_000009.11:g.36096922CA[12], NC_000009.11:g.36096922CA[13], NC_000009.11:g.36096922CA[14], NC_000009.11:g.36096922CA[15]

Select item 149101935219.

rs1491019352 has merged into rs56001338 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAACTAAAAAAAGAAAAAAAAATAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:36054513 (GRCh38)
9:36054510 (GRCh37)
Canonical SPDI:: NC_000009.12:36054499:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:36054499:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:36054499:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:36054499:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:36054499:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:36054499:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:36054499:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:36054499:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36054499:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36054499:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36054499:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36054499:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36054499:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36054499:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36054499:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36054499:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:36054499:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTAAAAAAAGAAAAAAAAATAAAAAAAAAAAAAAAAAAAA
Gene:: RECK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2646/1325 (1000Genomes)
HGVS:: NC_000009.12:g.36054513_36054518del, NC_000009.12:g.36054514_36054518del, NC_000009.12:g.36054515_36054518del, NC_000009.12:g.36054516_36054518del, NC_000009.12:g.36054517_36054518del, NC_000009.12:g.36054518del, NC_000009.12:g.36054518dup, NC_000009.12:g.36054517_36054518dup, NC_000009.12:g.36054516_36054518dup, NC_000009.12:g.36054515_36054518dup, NC_000009.12:g.36054514_36054518dup, NC_000009.12:g.36054513_36054518dup, NC_000009.12:g.36054512_36054518dup, NC_000009.12:g.36054505_36054518dup, NC_000009.12:g.36054518_36054519insAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.36054518_36054519insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.36054500_36054518A[35]CTAAAAAAAGAAAAAAAAATAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.36054510_36054515del, NC_000009.11:g.36054511_36054515del, NC_000009.11:g.36054512_36054515del, NC_000009.11:g.36054513_36054515del, NC_000009.11:g.36054514_36054515del, NC_000009.11:g.36054515del, NC_000009.11:g.36054515dup, NC_000009.11:g.36054514_36054515dup, NC_000009.11:g.36054513_36054515dup, NC_000009.11:g.36054512_36054515dup, NC_000009.11:g.36054511_36054515dup, NC_000009.11:g.36054510_36054515dup, NC_000009.11:g.36054509_36054515dup, NC_000009.11:g.36054502_36054515dup, NC_000009.11:g.36054515_36054516insAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.36054515_36054516insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.36054497_36054515A[35]CTAAAAAAAGAAAAAAAAATAAAAAAAAAAAAAAAAAAAA[1]

Select item 149098821520.

rs1490988215 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>G
Chromosome:: no mapping
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dbSNP

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