SNP Links for Gene (Select 102546299) - SNP

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Select item 14915820631.

rs1491582063 has merged into rs10552437 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT [Show Flanks]
Chromosome:: 5:164528306 (GRCh38)
5:163955312 (GRCh37)
Canonical SPDI:: NC_000005.10:164528298:TTTTTTTTTT:TTTTTTT,NC_000005.10:164528298:TTTTTTTTTT:TTTTTTTT,NC_000005.10:164528298:TTTTTTTTTT:TTTTTTTTT,NC_000005.10:164528298:TTTTTTTTTT:TTTTTTTTTTT
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.2582/1293 (1000Genomes)
-=0.4881/1881 (ALSPAC)
HGVS:: NC_000005.10:g.164528306_164528308del, NC_000005.10:g.164528307_164528308del, NC_000005.10:g.164528308del, NC_000005.10:g.164528308dup, NC_000005.9:g.163955312_163955314del, NC_000005.9:g.163955313_163955314del, NC_000005.9:g.163955314del, NC_000005.9:g.163955314dup

Select item 14915799292.

rs1491579929 has merged into rs5872882 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:164534628 (GRCh38)
5:163961634 (GRCh37)
Canonical SPDI:: NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:164534617:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000005.10:g.164534628_164534642del, NC_000005.10:g.164534629_164534642del, NC_000005.10:g.164534630_164534642del, NC_000005.10:g.164534633_164534642del, NC_000005.10:g.164534635_164534642del, NC_000005.10:g.164534636_164534642del, NC_000005.10:g.164534637_164534642del, NC_000005.10:g.164534638_164534642del, NC_000005.10:g.164534639_164534642del, NC_000005.10:g.164534640_164534642del, NC_000005.10:g.164534641_164534642del, NC_000005.10:g.164534642del, NC_000005.10:g.164534642dup, NC_000005.10:g.164534641_164534642dup, NC_000005.10:g.164534640_164534642dup, NC_000005.10:g.164534639_164534642dup, NC_000005.10:g.164534638_164534642dup, NC_000005.10:g.164534637_164534642dup, NC_000005.10:g.164534636_164534642dup, NC_000005.10:g.164534635_164534642dup, NC_000005.10:g.164534634_164534642dup, NC_000005.10:g.164534633_164534642dup, NC_000005.10:g.164534632_164534642dup, NC_000005.10:g.164534629_164534642dup, NC_000005.10:g.164534642_164534643insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.164534642_164534643insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.163961634_163961648del, NC_000005.9:g.163961635_163961648del, NC_000005.9:g.163961636_163961648del, NC_000005.9:g.163961639_163961648del, NC_000005.9:g.163961641_163961648del, NC_000005.9:g.163961642_163961648del, NC_000005.9:g.163961643_163961648del, NC_000005.9:g.163961644_163961648del, NC_000005.9:g.163961645_163961648del, NC_000005.9:g.163961646_163961648del, NC_000005.9:g.163961647_163961648del, NC_000005.9:g.163961648del, NC_000005.9:g.163961648dup, NC_000005.9:g.163961647_163961648dup, NC_000005.9:g.163961646_163961648dup, NC_000005.9:g.163961645_163961648dup, NC_000005.9:g.163961644_163961648dup, NC_000005.9:g.163961643_163961648dup, NC_000005.9:g.163961642_163961648dup, NC_000005.9:g.163961641_163961648dup, NC_000005.9:g.163961640_163961648dup, NC_000005.9:g.163961639_163961648dup, NC_000005.9:g.163961638_163961648dup, NC_000005.9:g.163961635_163961648dup, NC_000005.9:g.163961648_163961649insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.163961648_163961649insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915759583.

rs1491575958 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:164492575 (GRCh38)
5:163919581 (GRCh37)
Canonical SPDI:: NC_000005.10:164492574:GT:
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.164492575_164492576del, NC_000005.9:g.163919581_163919582del

Select item 14915271274.

rs1491527127 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:164520001 (GRCh38)
5:163947007 (GRCh37)
Canonical SPDI:: NC_000005.10:164520000:AA:
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.001096/131 (GnomAD)
HGVS:: NC_000005.10:g.164520001_164520002del, NC_000005.9:g.163947007_163947008del

Select item 14915254025.

rs1491525402 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:164525727 (GRCh38)
5:163952734 (GRCh37)
Canonical SPDI:: NC_000005.10:164525727::A
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000034/1 (GnomAD)
HGVS:: NC_000005.10:g.164525727_164525728insA, NC_000005.9:g.163952733_163952734insA

Select item 14914885606.

rs1491488560 has merged into rs1163978563 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,TT,TTTT [Show Flanks]
Chromosome:: 5:164533515 (GRCh38)
5:163960521 (GRCh37)
Canonical SPDI:: NC_000005.10:164533503:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:164533503:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:164533503:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000389/11 (TOMMO)
HGVS:: NC_000005.10:g.164533515_164533517del, NC_000005.10:g.164533517del, NC_000005.10:g.164533517dup, NC_000005.9:g.163960521_163960523del, NC_000005.9:g.163960523del, NC_000005.9:g.163960523dup

Select item 14914468107.

rs1491446810 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAC,GACAG [Show Flanks]
Chromosome:: 5:164520001 (GRCh38)
5:163947008 (GRCh37)
Canonical SPDI:: NC_000005.10:164520001::GAC,NC_000005.10:164520001::GACAG
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GACAG=0./0 (ALFA)
GAC=0.00001/1 (GnomAD)
HGVS:: NC_000005.10:g.164520001_164520002insGAC, NC_000005.10:g.164520001_164520002insGACAG, NC_000005.9:g.163947007_163947008insGAC, NC_000005.9:g.163947007_163947008insGACAG

Select item 14914256828.

rs1491425682 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:164534617 (GRCh38)
5:163961623 (GRCh37)
Canonical SPDI:: NC_000005.10:164534616:CA:
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.164534617_164534618del, NC_000005.9:g.163961623_163961624del

Select item 14914236299.

rs1491423629 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACA,TATACA [Show Flanks]
Chromosome:: 5:164504999 (GRCh38)
5:163932006 (GRCh37)
Canonical SPDI:: NC_000005.10:164504999:A:ATACA,NC_000005.10:164504999:A:ATATACA
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATACA=0./0 (ALFA)
ATATAC=0.000004/1 (TOPMED)
ATAC=0.000009/1 (GnomAD)
HGVS:: NC_000005.10:g.164505000_164505001insTACA, NC_000005.10:g.164505000AT[2]ACA[1], NC_000005.9:g.163932006_163932007insTACA, NC_000005.9:g.163932006AT[2]ACA[1]

Select item 149135098610.

rs1491350986 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:164542263 (GRCh38)
5:163969269 (GRCh37)
Canonical SPDI:: NC_000005.10:164542262:CA:
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00041/35 (GnomAD)
HGVS:: NC_000005.10:g.164542263_164542264del, NC_000005.9:g.163969269_163969270del

Select item 149133602711.

rs1491336027 has merged into rs571470631 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:164525733 (GRCh38)
5:163952739 (GRCh37)
Canonical SPDI:: NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:164525726:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.4345/2176 (1000Genomes)
HGVS:: NC_000005.10:g.164525733_164525745del, NC_000005.10:g.164525736_164525745del, NC_000005.10:g.164525739_164525745del, NC_000005.10:g.164525741_164525745del, NC_000005.10:g.164525742_164525745del, NC_000005.10:g.164525743_164525745del, NC_000005.10:g.164525744_164525745del, NC_000005.10:g.164525745del, NC_000005.10:g.164525745dup, NC_000005.10:g.164525744_164525745dup, NC_000005.10:g.164525743_164525745dup, NC_000005.10:g.164525742_164525745dup, NC_000005.10:g.164525741_164525745dup, NC_000005.10:g.164525740_164525745dup, NC_000005.10:g.164525739_164525745dup, NC_000005.10:g.164525738_164525745dup, NC_000005.10:g.164525737_164525745dup, NC_000005.10:g.164525736_164525745dup, NC_000005.10:g.164525735_164525745dup, NC_000005.10:g.164525734_164525745dup, NC_000005.10:g.164525733_164525745dup, NC_000005.10:g.164525732_164525745dup, NC_000005.10:g.164525731_164525745dup, NC_000005.10:g.164525729_164525745dup, NC_000005.10:g.164525728_164525745dup, NC_000005.10:g.164525727_164525745dup, NC_000005.10:g.164525745_164525746insTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.164525745_164525746insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.164525745_164525746insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.164525745_164525746insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.163952739_163952751del, NC_000005.9:g.163952742_163952751del, NC_000005.9:g.163952745_163952751del, NC_000005.9:g.163952747_163952751del, NC_000005.9:g.163952748_163952751del, NC_000005.9:g.163952749_163952751del, NC_000005.9:g.163952750_163952751del, NC_000005.9:g.163952751del, NC_000005.9:g.163952751dup, NC_000005.9:g.163952750_163952751dup, NC_000005.9:g.163952749_163952751dup, NC_000005.9:g.163952748_163952751dup, NC_000005.9:g.163952747_163952751dup, NC_000005.9:g.163952746_163952751dup, NC_000005.9:g.163952745_163952751dup, NC_000005.9:g.163952744_163952751dup, NC_000005.9:g.163952743_163952751dup, NC_000005.9:g.163952742_163952751dup, NC_000005.9:g.163952741_163952751dup, NC_000005.9:g.163952740_163952751dup, NC_000005.9:g.163952739_163952751dup, NC_000005.9:g.163952738_163952751dup, NC_000005.9:g.163952737_163952751dup, NC_000005.9:g.163952735_163952751dup, NC_000005.9:g.163952734_163952751dup, NC_000005.9:g.163952733_163952751dup, NC_000005.9:g.163952751_163952752insTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.163952751_163952752insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.163952751_163952752insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.163952751_163952752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149124382912.

rs1491243829 has merged into rs3083835 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:164522268 (GRCh38)
5:163949274 (GRCh37)
Canonical SPDI:: NC_000005.10:164522256:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:164522256:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:164522256:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:164522256:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:164522256:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:164522256:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:164522256:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:164522256:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1147/442 (ALSPAC)
HGVS:: NC_000005.10:g.164522268_164522273del, NC_000005.10:g.164522270_164522273del, NC_000005.10:g.164522271_164522273del, NC_000005.10:g.164522272_164522273del, NC_000005.10:g.164522273del, NC_000005.10:g.164522273dup, NC_000005.10:g.164522272_164522273dup, NC_000005.10:g.164522266_164522273dup, NC_000005.9:g.163949274_163949279del, NC_000005.9:g.163949276_163949279del, NC_000005.9:g.163949277_163949279del, NC_000005.9:g.163949278_163949279del, NC_000005.9:g.163949279del, NC_000005.9:g.163949279dup, NC_000005.9:g.163949278_163949279dup, NC_000005.9:g.163949272_163949279dup

Select item 149120144713.

rs1491201447 has merged into rs34674144 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 5:164542272 (GRCh38)
5:163969278 (GRCh37)
Canonical SPDI:: NC_000005.10:164542263:AAAAAAAAAAA:AAAAAAAA,NC_000005.10:164542263:AAAAAAAAAAA:AAAAAAAAA,NC_000005.10:164542263:AAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:164542263:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AA=0.402116/106436 (TOPMED)
AA=0.436136/2158 (1000Genomes)
AA=0.436893/1620 (TWINSUK)
-=0.45/18 (GENOME_DK)
AA=0.45096/1738 (ALSPAC)
HGVS:: NC_000005.10:g.164542272_164542274del, NC_000005.10:g.164542273_164542274del, NC_000005.10:g.164542274del, NC_000005.10:g.164542274dup, NC_000005.9:g.163969278_163969280del, NC_000005.9:g.163969279_163969280del, NC_000005.9:g.163969280del, NC_000005.9:g.163969280dup

Select item 149115841014.

rs1491158410 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:164520572 (GRCh38)
5:163947578 (GRCh37)
Canonical SPDI:: NC_000005.10:164520570:TCT:T
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00565/67 (ALFA)
-=0.00541/64 (TOMMO)
-=0.01858/119 (1000Genomes)
-=0.09379/746 (GnomAD)
HGVS:: NC_000005.10:g.164520572_164520573del, NC_000005.9:g.163947578_163947579del

Select item 149113212315.

rs1491132123 has merged into rs1218591718 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 5:164492576 (GRCh38)
5:163919582 (GRCh37)
Canonical SPDI:: NC_000005.10:164492575:TTTTT:TTTT,NC_000005.10:164492575:TTTTT:TTTTTT
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.164492580del, NC_000005.10:g.164492580dup, NC_000005.9:g.163919586del, NC_000005.9:g.163919586dup

Select item 149112708216.

rs1491127082 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 5:164533502 (GRCh38)
5:163960509 (GRCh37)
Canonical SPDI:: NC_000005.10:164533502::T,NC_000005.10:164533502::TT
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.00018/3 (TOMMO)
T=0.05667/34 (NorthernSweden)
HGVS:: NC_000005.10:g.164533502_164533503insT, NC_000005.10:g.164533502_164533503insTT, NC_000005.9:g.163960508_163960509insT, NC_000005.9:g.163960508_163960509insTT

Select item 149107797317.

rs1491077973 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAGA [Show Flanks]
Chromosome:: 5:164498910 (GRCh38)
5:163925917 (GRCh37)
Canonical SPDI:: NC_000005.10:164498910:A:ACAGA
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACAGA=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.164498911_164498912insCAGA, NC_000005.9:g.163925917_163925918insCAGA

Select item 149106480718.

rs1491064807 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAAAAAAAA [Show Flanks]
Chromosome:: 5:164524923 (GRCh38)
5:163951930 (GRCh37)
Canonical SPDI:: NC_000005.10:164524923:AAAAAAAAAGAAAAAAAA:AAAAAAAAAGAAAAAAAAAGAAAAAAAA
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAAAGAAAAAAAAAGAAAAAAAA=0./0 (ALFA)
AAAAAAAAAG=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.164524932_164524941dup, NC_000005.9:g.163951938_163951947dup

Select item 149101475719.

rs1491014757 has merged into rs549282752 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 5:164517498 (GRCh38)
5:163944504 (GRCh37)
Canonical SPDI:: NC_000005.10:164517485:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:164517485:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:164517485:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:164517485:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:164517485:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:164517485:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.164517498_164517501del, NC_000005.10:g.164517499_164517501del, NC_000005.10:g.164517500_164517501del, NC_000005.10:g.164517501del, NC_000005.10:g.164517501dup, NC_000005.10:g.164517500_164517501dup, NC_000005.9:g.163944504_163944507del, NC_000005.9:g.163944505_163944507del, NC_000005.9:g.163944506_163944507del, NC_000005.9:g.163944507del, NC_000005.9:g.163944507dup, NC_000005.9:g.163944506_163944507dup

Select item 149101272420.

rs1491012724 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:164520000 (GRCh38)
5:163947006 (GRCh37)
Canonical SPDI:: NC_000005.10:164519999:TA:
Gene:: LOC102546299 (Varview), LINC03000 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000843/10 (ALFA)
-=0.002524/42 (TOMMO)
-=0.002719/279 (GnomAD)
HGVS:: NC_000005.10:g.164520000_164520001del, NC_000005.9:g.163947006_163947007del

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