SNP Links for Gene (Select 10043) - SNP

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Select item 14915823551.

rs1491582355 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTT [Show Flanks]
Chromosome:: 22:35297838 (GRCh38)
22:35693832 (GRCh37)
Canonical SPDI:: NC_000022.11:35297838:TTT:TTTGTTT
Gene:: TOM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTGTTT=0.00076/9 (ALFA)
TTTG=0.00182/146 (GnomAD)
HGVS:: NC_000022.11:g.35297841_35297842insGTTT, NC_000022.10:g.35693834_35693835insGTTT

Select item 14915771882.

rs1491577188 has merged into rs869214941 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:35297843 (GRCh38)
22:35693836 (GRCh37)
Canonical SPDI:: NC_000022.11:35297837:TTTTTTTTTTTTTTTTTTTTT:TTTTT,NC_000022.11:35297837:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:35297837:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:35297837:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:35297837:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:35297837:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:35297837:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:35297837:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35297837:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35297837:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TOM1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000358/6 (TOMMO)
HGVS:: NC_000022.11:g.35297843_35297858del, NC_000022.11:g.35297848_35297858del, NC_000022.11:g.35297851_35297858del, NC_000022.11:g.35297852_35297858del, NC_000022.11:g.35297853_35297858del, NC_000022.11:g.35297857_35297858del, NC_000022.11:g.35297858del, NC_000022.11:g.35297858dup, NC_000022.11:g.35297849_35297858dup, NC_000022.11:g.35297846_35297858dup, NC_000022.10:g.35693836_35693851del, NC_000022.10:g.35693841_35693851del, NC_000022.10:g.35693844_35693851del, NC_000022.10:g.35693845_35693851del, NC_000022.10:g.35693846_35693851del, NC_000022.10:g.35693850_35693851del, NC_000022.10:g.35693851del, NC_000022.10:g.35693851dup, NC_000022.10:g.35693842_35693851dup, NC_000022.10:g.35693839_35693851dup

Select item 14915768713.

rs1491576871 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 22:35324411 (GRCh38)
22:35720404 (GRCh37)
Canonical SPDI:: NC_000022.11:35324410:TC:
Gene:: TOM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.35324411_35324412del, NC_000022.10:g.35720404_35720405del

Select item 14915486704.

rs1491548670 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:35305658 (GRCh38)
22:35701651 (GRCh37)
Canonical SPDI:: NC_000022.11:35305657:CA:
Gene:: TOM1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.35305658_35305659del, NC_000022.10:g.35701651_35701652del

Select item 14915485035.

rs1491548503 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:35343518 (GRCh38)
22:35739512 (GRCh37)
Canonical SPDI:: NC_000022.11:35343518:A:AA
Gene:: TOM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000013/1 (GnomAD)
HGVS:: NC_000022.11:g.35343519dup, NC_000022.10:g.35739512dup

Select item 14914725936.

rs1491472593 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 22:35335439 (GRCh38)
22:35731432 (GRCh37)
Canonical SPDI:: NC_000022.11:35335437:TGT:T
Gene:: TOM1 (Varview), MIR3909 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.35335439_35335440del, NC_000022.10:g.35731432_35731433del

Select item 14914708827.

rs1491470882 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,G [Show Flanks]
Chromosome:: 22:35324411 (GRCh38)
22:35720405 (GRCh37)
Canonical SPDI:: NC_000022.11:35324411::A,NC_000022.11:35324411::AA,NC_000022.11:35324411::G
Gene:: TOM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
G=0.00002/1 (GnomAD)
AA=0.00064/18 (TOMMO)
HGVS:: NC_000022.11:g.35324411_35324412insA, NC_000022.11:g.35324411_35324412insAA, NC_000022.11:g.35324411_35324412insG, NC_000022.10:g.35720404_35720405insA, NC_000022.10:g.35720404_35720405insAA, NC_000022.10:g.35720404_35720405insG

Select item 14914525938.

rs1491452593 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:35335438 (GRCh38)
22:35731432 (GRCh37)
Canonical SPDI:: NC_000022.11:35335438::A
Gene:: TOM1 (Varview), MIR3909 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000022.11:g.35335438_35335439insA, NC_000022.10:g.35731431_35731432insA

Select item 14914488209.

rs1491448820 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:35302312 (GRCh38)
22:35698305 (GRCh37)
Canonical SPDI:: NC_000022.11:35302310:TCT:T
Gene:: TOM1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000038/5 (GnomAD)
HGVS:: NC_000022.11:g.35302312_35302313del, NC_000022.10:g.35698305_35698306del

Select item 149144680010.

rs1491446800 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTT [Show Flanks]
Chromosome:: 22:35302331 (GRCh38)
22:35698325 (GRCh37)
Canonical SPDI:: NC_000022.11:35302331:TTTT:TTTTCTTTT
Gene:: TOM1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTCTTTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.35302332_35302335T[4]CTTTT[1], NC_000022.10:g.35698325_35698328T[4]CTTTT[1]

Select item 149142047211.

rs1491420472 has merged into rs138734 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:35302340 (GRCh38)
22:35698333 (GRCh37)
Canonical SPDI:: NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:35302330:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TOM1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000022.11:g.35302340_35302352del, NC_000022.11:g.35302341_35302352del, NC_000022.11:g.35302343_35302352del, NC_000022.11:g.35302345_35302352del, NC_000022.11:g.35302346_35302352del, NC_000022.11:g.35302347_35302352del, NC_000022.11:g.35302348_35302352del, NC_000022.11:g.35302349_35302352del, NC_000022.11:g.35302350_35302352del, NC_000022.11:g.35302351_35302352del, NC_000022.11:g.35302352del, NC_000022.11:g.35302352dup, NC_000022.11:g.35302351_35302352dup, NC_000022.11:g.35302350_35302352dup, NC_000022.11:g.35302331_35302352T[25]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000022.11:g.35302349_35302352dup, NC_000022.11:g.35302348_35302352dup, NC_000022.11:g.35302347_35302352dup, NC_000022.11:g.35302331_35302352T[28]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000022.11:g.35302346_35302352dup, NC_000022.11:g.35302331_35302352T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000022.11:g.35302345_35302352dup, NC_000022.11:g.35302344_35302352dup, NC_000022.11:g.35302343_35302352dup, NC_000022.11:g.35302342_35302352dup, NC_000022.11:g.35302341_35302352dup, NC_000022.11:g.35302340_35302352dup, NC_000022.11:g.35302339_35302352dup, NC_000022.11:g.35302331_35302352T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000022.11:g.35302338_35302352dup, NC_000022.11:g.35302337_35302352dup, NC_000022.11:g.35302336_35302352dup, NC_000022.11:g.35302335_35302352dup, NC_000022.11:g.35302334_35302352dup, NC_000022.11:g.35302333_35302352dup, NC_000022.11:g.35302352_35302353insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.35302352_35302353insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.35302352_35302353insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.35302352_35302353insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.35302352_35302353insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.35698333_35698345del, NC_000022.10:g.35698334_35698345del, NC_000022.10:g.35698336_35698345del, NC_000022.10:g.35698338_35698345del, NC_000022.10:g.35698339_35698345del, NC_000022.10:g.35698340_35698345del, NC_000022.10:g.35698341_35698345del, NC_000022.10:g.35698342_35698345del, NC_000022.10:g.35698343_35698345del, NC_000022.10:g.35698344_35698345del, NC_000022.10:g.35698345del, NC_000022.10:g.35698345dup, NC_000022.10:g.35698344_35698345dup, NC_000022.10:g.35698343_35698345dup, NC_000022.10:g.35698324_35698345T[25]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000022.10:g.35698342_35698345dup, NC_000022.10:g.35698341_35698345dup, NC_000022.10:g.35698340_35698345dup, NC_000022.10:g.35698324_35698345T[28]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000022.10:g.35698339_35698345dup, NC_000022.10:g.35698324_35698345T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000022.10:g.35698338_35698345dup, NC_000022.10:g.35698337_35698345dup, NC_000022.10:g.35698336_35698345dup, NC_000022.10:g.35698335_35698345dup, NC_000022.10:g.35698334_35698345dup, NC_000022.10:g.35698333_35698345dup, NC_000022.10:g.35698332_35698345dup, NC_000022.10:g.35698324_35698345T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000022.10:g.35698331_35698345dup, NC_000022.10:g.35698330_35698345dup, NC_000022.10:g.35698329_35698345dup, NC_000022.10:g.35698328_35698345dup, NC_000022.10:g.35698327_35698345dup, NC_000022.10:g.35698326_35698345dup, NC_000022.10:g.35698345_35698346insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.35698345_35698346insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.35698345_35698346insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.35698345_35698346insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.35698345_35698346insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149140992812.

rs1491409928 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:35312243 (GRCh38)
22:35708236 (GRCh37)
Canonical SPDI:: NC_000022.11:35312242:CA:
Gene:: TOM1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.35312243_35312244del, NC_000022.10:g.35708236_35708237del

Select item 149138734913.

rs1491387349 has merged into rs138739 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACAC>-,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 22:35303142 (GRCh38)
22:35699135 (GRCh37)
Canonical SPDI:: NC_000022.11:35303131:ACACACACACACACACAC:ACACACACAC,NC_000022.11:35303131:ACACACACACACACACAC:ACACACACACACAC,NC_000022.11:35303131:ACACACACACACACACAC:ACACACACACACACAC,NC_000022.11:35303131:ACACACACACACACACAC:ACACACACACACACACACAC,NC_000022.11:35303131:ACACACACACACACACAC:ACACACACACACACACACACAC,NC_000022.11:35303131:ACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000022.11:35303131:ACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000022.11:35303131:ACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000022.11:35303131:ACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000022.11:35303131:ACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000022.11:35303131:ACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000022.11:35303131:ACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000022.11:35303131:ACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000022.11:35303131:ACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:35303131:ACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:35303131:ACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC
Gene:: TOM1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
-=0.325/13 (GENOME_DK)
ACACACACAC=0.4089/2048 (1000Genomes)
HGVS:: NC_000022.11:g.35303132AC[5], NC_000022.11:g.35303132AC[7], NC_000022.11:g.35303132AC[8], NC_000022.11:g.35303132AC[10], NC_000022.11:g.35303132AC[11], NC_000022.11:g.35303132AC[12], NC_000022.11:g.35303132AC[13], NC_000022.11:g.35303132AC[14], NC_000022.11:g.35303132AC[15], NC_000022.11:g.35303132AC[16], NC_000022.11:g.35303132AC[17], NC_000022.11:g.35303132AC[18], NC_000022.11:g.35303132AC[19], NC_000022.11:g.35303132AC[20], NC_000022.11:g.35303132AC[21], NC_000022.11:g.35303132AC[22], NC_000022.10:g.35699125AC[5], NC_000022.10:g.35699125AC[7], NC_000022.10:g.35699125AC[8], NC_000022.10:g.35699125AC[10], NC_000022.10:g.35699125AC[11], NC_000022.10:g.35699125AC[12], NC_000022.10:g.35699125AC[13], NC_000022.10:g.35699125AC[14], NC_000022.10:g.35699125AC[15], NC_000022.10:g.35699125AC[16], NC_000022.10:g.35699125AC[17], NC_000022.10:g.35699125AC[18], NC_000022.10:g.35699125AC[19], NC_000022.10:g.35699125AC[20], NC_000022.10:g.35699125AC[21], NC_000022.10:g.35699125AC[22]

Select item 149135698014.

rs1491356980 has merged into rs35896033 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 22:35339915 (GRCh38)
22:35735908 (GRCh37)
Canonical SPDI:: NC_000022.11:35339903:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:35339903:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:35339903:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:35339903:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:35339903:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: TOM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.3417/1317 (ALSPAC)
A=0.3711/1376 (TWINSUK)
-=0.3912/1959 (1000Genomes)
A=0.4/16 (GENOME_DK)
HGVS:: NC_000022.11:g.35339915_35339917del, NC_000022.11:g.35339916_35339917del, NC_000022.11:g.35339917del, NC_000022.11:g.35339917dup, NC_000022.11:g.35339916_35339917dup, NC_000022.10:g.35735908_35735910del, NC_000022.10:g.35735909_35735910del, NC_000022.10:g.35735910del, NC_000022.10:g.35735910dup, NC_000022.10:g.35735909_35735910dup

Select item 149134938515.

rs1491349385 has merged into rs369494560 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:35300906 (GRCh38)
22:35696899 (GRCh37)
Canonical SPDI:: NC_000022.11:35300904:ACA:A
Gene:: TOM1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000641/9 (ALFA)
-=0.000156/1 (1000Genomes)
-=0.000318/5 (TOMMO)
-=0.000563/149 (TOPMED)
-=0.00067/69 (GnomAD)
HGVS:: NC_000022.11:g.35300906_35300907del, NC_000022.10:g.35696899_35696900del

Select item 149134700516.

rs1491347005 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 22:35343518 (GRCh38)
22:35739511 (GRCh37)
Canonical SPDI:: NC_000022.11:35343517:TA:
Gene:: TOM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000468/3 (1000Genomes)
HGVS:: NC_000022.11:g.35343518_35343519del, NC_000022.10:g.35739511_35739512del

Select item 149126199817.

rs1491261998 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:35343106 (GRCh38)
22:35739100 (GRCh37)
Canonical SPDI:: NC_000022.11:35343106::T
Gene:: TOM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000429/7 (ALFA)
T=0.000299/36 (GnomAD)
T=0.002676/44 (TOMMO)
T=0.003333/2 (NorthernSweden)
HGVS:: NC_000022.11:g.35343106_35343107insT, NC_000022.10:g.35739099_35739100insT

Select item 149126097918.

rs1491260979 has merged into rs58401864 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:35324423 (GRCh38)
22:35720416 (GRCh37)
Canonical SPDI:: NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35324412:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TOM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000022.11:g.35324423_35324436del, NC_000022.11:g.35324424_35324436del, NC_000022.11:g.35324425_35324436del, NC_000022.11:g.35324426_35324436del, NC_000022.11:g.35324427_35324436del, NC_000022.11:g.35324428_35324436del, NC_000022.11:g.35324429_35324436del, NC_000022.11:g.35324430_35324436del, NC_000022.11:g.35324431_35324436del, NC_000022.11:g.35324432_35324436del, NC_000022.11:g.35324433_35324436del, NC_000022.11:g.35324434_35324436del, NC_000022.11:g.35324435_35324436del, NC_000022.11:g.35324436del, NC_000022.11:g.35324436dup, NC_000022.11:g.35324435_35324436dup, NC_000022.11:g.35324434_35324436dup, NC_000022.11:g.35324433_35324436dup, NC_000022.11:g.35324432_35324436dup, NC_000022.11:g.35324431_35324436dup, NC_000022.11:g.35324430_35324436dup, NC_000022.11:g.35324429_35324436dup, NC_000022.11:g.35324415_35324436dup, NC_000022.11:g.35324436_35324437insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.35720416_35720429del, NC_000022.10:g.35720417_35720429del, NC_000022.10:g.35720418_35720429del, NC_000022.10:g.35720419_35720429del, NC_000022.10:g.35720420_35720429del, NC_000022.10:g.35720421_35720429del, NC_000022.10:g.35720422_35720429del, NC_000022.10:g.35720423_35720429del, NC_000022.10:g.35720424_35720429del, NC_000022.10:g.35720425_35720429del, NC_000022.10:g.35720426_35720429del, NC_000022.10:g.35720427_35720429del, NC_000022.10:g.35720428_35720429del, NC_000022.10:g.35720429del, NC_000022.10:g.35720429dup, NC_000022.10:g.35720428_35720429dup, NC_000022.10:g.35720427_35720429dup, NC_000022.10:g.35720426_35720429dup, NC_000022.10:g.35720425_35720429dup, NC_000022.10:g.35720424_35720429dup, NC_000022.10:g.35720423_35720429dup, NC_000022.10:g.35720422_35720429dup, NC_000022.10:g.35720408_35720429dup, NC_000022.10:g.35720429_35720430insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149122967119.

rs1491229671 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:35302311 (GRCh38)
22:35698305 (GRCh37)
Canonical SPDI:: NC_000022.11:35302311:C:CC
Gene:: TOM1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD)
HGVS:: NC_000022.11:g.35302312dup, NC_000022.10:g.35698305dup

Select item 149119785520.

rs1491197855 has merged into rs137868113 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 22:35305671 (GRCh38)
22:35701664 (GRCh37)
Canonical SPDI:: NC_000022.11:35305658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:35305658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:35305658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:35305658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:35305658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:35305658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:35305658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:35305658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:35305658:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: TOM1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.4744/2376 (1000Genomes)
HGVS:: NC_000022.11:g.35305671_35305674del, NC_000022.11:g.35305672_35305674del, NC_000022.11:g.35305673_35305674del, NC_000022.11:g.35305674del, NC_000022.11:g.35305674dup, NC_000022.11:g.35305673_35305674dup, NC_000022.11:g.35305672_35305674dup, NC_000022.11:g.35305670_35305674dup, NC_000022.11:g.35305669_35305674dup, NC_000022.10:g.35701664_35701667del, NC_000022.10:g.35701665_35701667del, NC_000022.10:g.35701666_35701667del, NC_000022.10:g.35701667del, NC_000022.10:g.35701667dup, NC_000022.10:g.35701666_35701667dup, NC_000022.10:g.35701665_35701667dup, NC_000022.10:g.35701663_35701667dup, NC_000022.10:g.35701662_35701667dup

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