SNP Links for Gene (Select 641298) - SNP

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Select item 14915866631.

rs1491586663 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCT>-,CTCT [Show Flanks]
Chromosome:: 16:22455993 (GRCh38)
16:22467314 (GRCh37)
Canonical SPDI:: NC_000016.10:22455991:TCTCTCT:T,NC_000016.10:22455991:TCTCTCT:TCTCT
Gene:: SMG1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTCT=0./0 (ALFA)
HGVS:: NC_000016.10:g.22455993_22455998del, NC_000016.10:g.22455993CT[2], NC_000016.9:g.22467314_22467319del, NC_000016.9:g.22467314CT[2], NW_017852933.1:g.649038_649043del, NW_017852933.1:g.649038GA[2]

Select item 14914924882.

rs1491492488 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14914591313.

rs1491459131 has merged into rs1235279907 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:22463810 (GRCh38)
16:22475131 (GRCh37)
Canonical SPDI:: NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:22463799:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SMG1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.22463810_22463822del, NC_000016.10:g.22463811_22463822del, NC_000016.10:g.22463813_22463822del, NC_000016.10:g.22463814_22463822del, NC_000016.10:g.22463815_22463822del, NC_000016.10:g.22463819_22463822del, NC_000016.10:g.22463820_22463822del, NC_000016.10:g.22463821_22463822del, NC_000016.10:g.22463822del, NC_000016.10:g.22463822dup, NC_000016.10:g.22463821_22463822dup, NC_000016.10:g.22463820_22463822dup, NC_000016.10:g.22463819_22463822dup, NC_000016.10:g.22463818_22463822dup, NC_000016.10:g.22463817_22463822dup, NC_000016.10:g.22463816_22463822dup, NC_000016.10:g.22463815_22463822dup, NC_000016.10:g.22463814_22463822dup, NC_000016.10:g.22463813_22463822dup, NC_000016.10:g.22463812_22463822dup, NC_000016.10:g.22463810_22463822dup, NC_000016.10:g.22463809_22463822dup, NC_000016.9:g.22475131_22475143del, NC_000016.9:g.22475132_22475143del, NC_000016.9:g.22475134_22475143del, NC_000016.9:g.22475135_22475143del, NC_000016.9:g.22475136_22475143del, NC_000016.9:g.22475140_22475143del, NC_000016.9:g.22475141_22475143del, NC_000016.9:g.22475142_22475143del, NC_000016.9:g.22475143del, NC_000016.9:g.22475143dup, NC_000016.9:g.22475142_22475143dup, NC_000016.9:g.22475141_22475143dup, NC_000016.9:g.22475140_22475143dup, NC_000016.9:g.22475139_22475143dup, NC_000016.9:g.22475138_22475143dup, NC_000016.9:g.22475137_22475143dup, NC_000016.9:g.22475136_22475143dup, NC_000016.9:g.22475135_22475143dup, NC_000016.9:g.22475134_22475143dup, NC_000016.9:g.22475133_22475143dup, NC_000016.9:g.22475131_22475143dup, NC_000016.9:g.22475130_22475143dup, NW_017852933.1:g.641225_641237del, NW_017852933.1:g.641226_641237del, NW_017852933.1:g.641228_641237del, NW_017852933.1:g.641229_641237del, NW_017852933.1:g.641230_641237del, NW_017852933.1:g.641234_641237del, NW_017852933.1:g.641235_641237del, NW_017852933.1:g.641236_641237del, NW_017852933.1:g.641237del, NW_017852933.1:g.641237dup, NW_017852933.1:g.641236_641237dup, NW_017852933.1:g.641235_641237dup, NW_017852933.1:g.641234_641237dup, NW_017852933.1:g.641233_641237dup, NW_017852933.1:g.641232_641237dup, NW_017852933.1:g.641231_641237dup, NW_017852933.1:g.641230_641237dup, NW_017852933.1:g.641229_641237dup, NW_017852933.1:g.641228_641237dup, NW_017852933.1:g.641227_641237dup, NW_017852933.1:g.641225_641237dup, NW_017852933.1:g.641224_641237dup

Select item 14914408684.

rs1491440868 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 16:22463655 (GRCh38)
16:22474976 (GRCh37)
Canonical SPDI:: NC_000016.10:22463654:TA:
Gene:: SMG1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.22463655_22463656del, NC_000016.9:g.22474976_22474977del, NW_017852933.1:g.641381_641382del

Select item 14914293745.

rs1491429374 [Homo sapiens]

Variant type:: INS
Alleles:: ->TC [Show Flanks]
Chromosome:: 16:22455992 (GRCh38)
16:22467314 (GRCh37)
Canonical SPDI:: NC_000016.10:22455992::TC
Gene:: SMG1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TC=0./0 (ALFA)
TC=0.000016/2 (GnomAD)
HGVS:: NC_000016.10:g.22455992_22455993insTC, NC_000016.9:g.22467313_22467314insTC, NW_017852933.1:g.649042_649043insGA

Select item 14914086976.

rs1491408697 has merged into rs751387935 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 16:22457411 (GRCh38)
16:22468732 (GRCh37)
Canonical SPDI:: NC_000016.10:22457395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:22457395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:22457395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:22457395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:22457395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:22457395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:22457395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:22457395:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: SMG1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3571/10 (GENOME_DK)
HGVS:: NC_000016.10:g.22457411_22457415del, NC_000016.10:g.22457412_22457415del, NC_000016.10:g.22457413_22457415del, NC_000016.10:g.22457414_22457415del, NC_000016.10:g.22457415del, NC_000016.10:g.22457415dup, NC_000016.10:g.22457414_22457415dup, NC_000016.10:g.22457413_22457415dup, NC_000016.9:g.22468732_22468736del, NC_000016.9:g.22468733_22468736del, NC_000016.9:g.22468734_22468736del, NC_000016.9:g.22468735_22468736del, NC_000016.9:g.22468736del, NC_000016.9:g.22468736dup, NC_000016.9:g.22468735_22468736dup, NC_000016.9:g.22468734_22468736dup, NW_017852933.1:g.647635_647639del, NW_017852933.1:g.647636_647639del, NW_017852933.1:g.647637_647639del, NW_017852933.1:g.647638_647639del, NW_017852933.1:g.647639del, NW_017852933.1:g.647639dup, NW_017852933.1:g.647638_647639dup, NW_017852933.1:g.647637_647639dup

Select item 14913974127.

rs1491397412 has merged into rs1241789415 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,TT,TTT,TTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:22473042 (GRCh38)
16:22484363 (GRCh37)
Canonical SPDI:: NC_000016.10:22473026:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:22473026:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:22473026:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:22473026:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:22473026:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:22473026:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:22473026:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:22473026:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:22473026:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:22473026:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:22473026:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:22473026:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:22473026:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:22473026:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:22473026:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:22473026:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SMG1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.22473042_22473058del, NC_000016.10:g.22473044_22473058del, NC_000016.10:g.22473045_22473058del, NC_000016.10:g.22473048_22473058del, NC_000016.10:g.22473052_22473058del, NC_000016.10:g.22473054_22473058del, NC_000016.10:g.22473055_22473058del, NC_000016.10:g.22473056_22473058del, NC_000016.10:g.22473057_22473058del, NC_000016.10:g.22473058del, NC_000016.10:g.22473058dup, NC_000016.10:g.22473057_22473058dup, NC_000016.10:g.22473056_22473058dup, NC_000016.10:g.22473055_22473058dup, NC_000016.10:g.22473054_22473058dup, NC_000016.10:g.22473053_22473058dup, NC_000016.9:g.22484363_22484379del, NC_000016.9:g.22484365_22484379del, NC_000016.9:g.22484366_22484379del, NC_000016.9:g.22484369_22484379del, NC_000016.9:g.22484373_22484379del, NC_000016.9:g.22484375_22484379del, NC_000016.9:g.22484376_22484379del, NC_000016.9:g.22484377_22484379del, NC_000016.9:g.22484378_22484379del, NC_000016.9:g.22484379del, NC_000016.9:g.22484379dup, NC_000016.9:g.22484378_22484379dup, NC_000016.9:g.22484377_22484379dup, NC_000016.9:g.22484376_22484379dup, NC_000016.9:g.22484375_22484379dup, NC_000016.9:g.22484374_22484379dup, NW_017852933.1:g.631999_632015del, NW_017852933.1:g.632001_632015del, NW_017852933.1:g.632002_632015del, NW_017852933.1:g.632005_632015del, NW_017852933.1:g.632009_632015del, NW_017852933.1:g.632011_632015del, NW_017852933.1:g.632012_632015del, NW_017852933.1:g.632013_632015del, NW_017852933.1:g.632014_632015del, NW_017852933.1:g.632015del, NW_017852933.1:g.632015dup, NW_017852933.1:g.632014_632015dup, NW_017852933.1:g.632013_632015dup, NW_017852933.1:g.632012_632015dup, NW_017852933.1:g.632011_632015dup, NW_017852933.1:g.632010_632015dup

Select item 14913859588.

rs1491385958 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:22443732 (GRCh38)
16:22455053 (GRCh37)
Canonical SPDI:: NC_000016.10:22443731:AT:
Gene:: SMG1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000061/1 (ALFA)
-=0.000481/50 (GnomAD)
-=0.000544/9 (TOMMO)
HGVS:: NC_000016.10:g.22443732_22443733del, NC_000016.9:g.22455053_22455054del, NW_017852933.1:g.661306_661307del

Select item 14913514239.

rs1491351423 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 16:22476739 (GRCh38)
16:22488060 (GRCh37)
Canonical SPDI:: NC_000016.10:22476738:GT:
Gene:: SMG1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00034/4 (ALFA)
-=0.00094/15 (TOMMO)
HGVS:: NC_000016.10:g.22476739_22476740del, NC_000016.9:g.22488060_22488061del, NW_017852933.1:g.628300_628301del

Select item 149133941610.

rs1491339416 has merged into rs1404599442 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 16:22476751 (GRCh38)
16:22488072 (GRCh37)
Canonical SPDI:: NC_000016.10:22476739:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:22476739:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:22476739:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:22476739:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: SMG1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.22476751_22476752del, NC_000016.10:g.22476752del, NC_000016.10:g.22476752dup, NC_000016.10:g.22476751_22476752dup, NC_000016.9:g.22488072_22488073del, NC_000016.9:g.22488073del, NC_000016.9:g.22488073dup, NC_000016.9:g.22488072_22488073dup, NW_017852933.1:g.628299_628300del, NW_017852933.1:g.628300del, NW_017852933.1:g.628300dup, NW_017852933.1:g.628299_628300dup

Select item 149132771511.

rs1491327715 has merged into rs373517487 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 16:22463658 (GRCh38)
16:22474979 (GRCh37)
Canonical SPDI:: NC_000016.10:22463655:AAAA:AA,NC_000016.10:22463655:AAAA:AAA,NC_000016.10:22463655:AAAA:AAAAA
Gene:: SMG1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.00604/11 (Korea1K)
HGVS:: NC_000016.10:g.22463658_22463659del, NC_000016.10:g.22463659del, NC_000016.10:g.22463659dup, NC_000016.9:g.22474979_22474980del, NC_000016.9:g.22474980del, NC_000016.9:g.22474980dup, NW_017852933.1:g.641380_641381del, NW_017852933.1:g.641381del, NW_017852933.1:g.641381dup

Select item 149131894412.

rs1491318944 has merged into rs1172535480 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GGGG,GGGGGG,GGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 16:22437761 (GRCh38)
16:22449082 (GRCh37)
Canonical SPDI:: NC_000016.10:22437756:GGGGGGG:GGGG,NC_000016.10:22437756:GGGGGGG:GGGGG,NC_000016.10:22437756:GGGGGGG:GGGGGGGG,NC_000016.10:22437756:GGGGGGG:GGGGGGGGGG,NC_000016.10:22437756:GGGGGGG:GGGGGGGGGGG,NC_000016.10:22437756:GGGGGGG:GGGGGGGGGGGGGGG,NC_000016.10:22437756:GGGGGGG:GGGGGGGGGGGGGGGGGG
Gene:: SMG1P1 (Varview), RRN3P3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.02698/15 (NorthernSweden)
HGVS:: NC_000016.10:g.22437761_22437763del, NC_000016.10:g.22437762_22437763del, NC_000016.10:g.22437763dup, NC_000016.10:g.22437761_22437763dup, NC_000016.10:g.22437760_22437763dup, NC_000016.10:g.22437763_22437764insGGGGGGGG, NC_000016.10:g.22437763_22437764insGGGGGGGGGGG, NC_000016.9:g.22449082_22449084del, NC_000016.9:g.22449083_22449084del, NC_000016.9:g.22449084dup, NC_000016.9:g.22449082_22449084dup, NC_000016.9:g.22449081_22449084dup, NC_000016.9:g.22449084_22449085insGGGGGGGG, NC_000016.9:g.22449084_22449085insGGGGGGGGGGG, NW_017852933.1:g.667280_667282del, NW_017852933.1:g.667281_667282del, NW_017852933.1:g.667282dup, NW_017852933.1:g.667280_667282dup, NW_017852933.1:g.667279_667282dup, NW_017852933.1:g.667282_667283insCCCCCCCC, NW_017852933.1:g.667282_667283insCCCCCCCCCCC

Select item 149131156613.

rs1491311566 has merged into rs773248690 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 16:22443748 (GRCh38)
16:22455069 (GRCh37)
Canonical SPDI:: NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:22443732:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SMG1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.2632/10 (GENOME_DK)
HGVS:: NC_000016.10:g.22443734GT[7], NC_000016.10:g.22443734GT[9], NC_000016.10:g.22443734GT[10], NC_000016.10:g.22443734GT[11], NC_000016.10:g.22443734GT[12], NC_000016.10:g.22443734GT[13], NC_000016.10:g.22443734GT[14], NC_000016.10:g.22443734GT[15], NC_000016.10:g.22443734GT[16], NC_000016.10:g.22443734GT[17], NC_000016.10:g.22443734GT[18], NC_000016.10:g.22443734GT[19], NC_000016.10:g.22443734GT[20], NC_000016.10:g.22443734GT[21], NC_000016.10:g.22443734GT[23], NC_000016.10:g.22443734GT[24], NC_000016.10:g.22443734GT[25], NC_000016.10:g.22443734GT[26], NC_000016.9:g.22455055GT[7], NC_000016.9:g.22455055GT[9], NC_000016.9:g.22455055GT[10], NC_000016.9:g.22455055GT[11], NC_000016.9:g.22455055GT[12], NC_000016.9:g.22455055GT[13], NC_000016.9:g.22455055GT[14], NC_000016.9:g.22455055GT[15], NC_000016.9:g.22455055GT[16], NC_000016.9:g.22455055GT[17], NC_000016.9:g.22455055GT[18], NC_000016.9:g.22455055GT[19], NC_000016.9:g.22455055GT[20], NC_000016.9:g.22455055GT[21], NC_000016.9:g.22455055GT[23], NC_000016.9:g.22455055GT[24], NC_000016.9:g.22455055GT[25], NC_000016.9:g.22455055GT[26]

Select item 149122243014.

rs1491222430 has merged into rs370288759 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 16:22463831 (GRCh38)
16:22475152 (GRCh37)
Canonical SPDI:: NC_000016.10:22463824:AAAAAAAA:AAAAAA,NC_000016.10:22463824:AAAAAAAA:AAAAAAA,NC_000016.10:22463824:AAAAAAAA:AAAAAAAAA,NC_000016.10:22463824:AAAAAAAA:AAAAAAAAAAAA,NC_000016.10:22463824:AAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:22463824:AAAAAAAA:AAAAAAAAAAAAAAA
Gene:: SMG1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.075/3 (GENOME_DK)
-=0.18914/3114 (TOMMO)
HGVS:: NC_000016.10:g.22463831_22463832del, NC_000016.10:g.22463832del, NC_000016.10:g.22463832dup, NC_000016.10:g.22463829_22463832dup, NC_000016.10:g.22463828_22463832dup, NC_000016.10:g.22463826_22463832dup, NC_000016.9:g.22475152_22475153del, NC_000016.9:g.22475153del, NC_000016.9:g.22475153dup, NC_000016.9:g.22475150_22475153dup, NC_000016.9:g.22475149_22475153dup, NC_000016.9:g.22475147_22475153dup, NW_017852933.1:g.641211_641212del, NW_017852933.1:g.641212del, NW_017852933.1:g.641212dup, NW_017852933.1:g.641209_641212dup, NW_017852933.1:g.641208_641212dup, NW_017852933.1:g.641206_641212dup

Select item 149120539415.

rs1491205394 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 16:22457396 (GRCh38)
16:22468718 (GRCh37)
Canonical SPDI:: NC_000016.10:22457396:TT:TTCTT
Gene:: SMG1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0./0 (ALFA)
TTC=0.00257/42 (TOMMO)
HGVS:: NC_000016.10:g.22457398_22457399insCTT, NC_000016.9:g.22468719_22468720insCTT, NW_017852933.1:g.647638_647639insGAA

Select item 149116845216.

rs1491168452 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CAA
Chromosome:: no mapping
Canonical SPDI:

Select item 149115026017.

rs1491150260 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGTAGGG,AGGTCGGG,AGGTGGG [Show Flanks]
Chromosome:: 16:22437757 (GRCh38)
16:22449079 (GRCh37)
Canonical SPDI:: NC_000016.10:22437757:GGG:GGGAGGTAGGG,NC_000016.10:22437757:GGG:GGGAGGTCGGG,NC_000016.10:22437757:GGG:GGGAGGTGGG
Gene:: SMG1P1 (Varview), RRN3P3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGAGGTCGGG=0./0 (ALFA)
GGGAGGT=0.000008/1 (GnomAD)
HGVS:: NC_000016.10:g.22437760_22437761insAGGTAGGG, NC_000016.10:g.22437760_22437761insAGGTCGGG, NC_000016.10:g.22437760_22437761insAGGTGGG, NC_000016.9:g.22449081_22449082insAGGTAGGG, NC_000016.9:g.22449081_22449082insAGGTCGGG, NC_000016.9:g.22449081_22449082insAGGTGGG, NW_017852933.1:g.667281_667282insTACCTCCC, NW_017852933.1:g.667281_667282insGACCTCCC, NW_017852933.1:g.667281_667282insACCTCCC

Select item 149111994218.

rs1491119942 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 16:22463824 (GRCh38)
16:22475145 (GRCh37)
Canonical SPDI:: NC_000016.10:22463823:GA:
Gene:: SMG1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.003584/381 (GnomAD)
HGVS:: NC_000016.10:g.22463824_22463825del, NC_000016.9:g.22475145_22475146del, NW_017852933.1:g.641212_641213del

Select item 149101326319.

rs1491013263 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 16:22476416 (GRCh38)
16:22487738 (GRCh37)
Canonical SPDI:: NC_000016.10:22476416::T,NC_000016.10:22476416::TT
Gene:: SMG1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000016.10:g.22476416_22476417insT, NC_000016.10:g.22476416_22476417insTT, NC_000016.9:g.22487737_22487738insT, NC_000016.9:g.22487737_22487738insTT, NW_017852933.1:g.628624_628625insA, NW_017852933.1:g.628624_628625insAA

Select item 149096498520.

rs1490964985 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:22469152 (GRCh38)
16:22480473 (GRCh37)
Canonical SPDI:: NC_000016.10:22469151:A:G
Gene:: SMG1P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00005/6 (GnomAD)
HGVS:: NC_000016.10:g.22469152A>G, NC_000016.9:g.22480473A>G, NW_017852933.1:g.635885T>C, NR_027154.1:n.1639A>G

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