SNP Links for Gene (Select 26993) - SNP

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Select item 14915784431.

rs1491578443 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:15391588 (GRCh38)
19:15502399 (GRCh37)
Canonical SPDI:: NC_000019.10:15391585:CACA:CA
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0.239364/1069 (ALFA)
CA=0.002183/4 (Korea1K)
CA=0.008034/135 (TOMMO)
CA=0.156465/1002 (1000Genomes)
CA=0.204659/28105 (GnomAD)
CA=0.22/132 (NorthernSweden)
CA=0.24017/1075 (Estonian)
HGVS:: NC_000019.10:g.15391586CA[1], NC_000019.9:g.15502397CA[1]

Select item 14915525302.

rs1491552530 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:15391457 (GRCh38)
19:15502268 (GRCh37)
Canonical SPDI:: NC_000019.10:15391456:CA:
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000019.10:g.15391457_15391458del, NC_000019.9:g.15502268_15502269del

Select item 14915523553.

rs1491552355 has merged into rs1163781609 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:15391470 (GRCh38)
19:15502281 (GRCh37)
Canonical SPDI:: NC_000019.10:15391457:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:15391457:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:15391457:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:15391457:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:15391457:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:15391457:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:15391457:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:15391457:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:15391457:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:15391457:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:15391457:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:15391457:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:15391457:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:15391457:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:15391457:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:15391457:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAAAAA=0.0108/2 (NorthernSweden)
HGVS:: NC_000019.10:g.15391470_15391481del, NC_000019.10:g.15391471_15391481del, NC_000019.10:g.15391472_15391481del, NC_000019.10:g.15391473_15391481del, NC_000019.10:g.15391474_15391481del, NC_000019.10:g.15391475_15391481del, NC_000019.10:g.15391476_15391481del, NC_000019.10:g.15391479_15391481del, NC_000019.10:g.15391480_15391481del, NC_000019.10:g.15391481del, NC_000019.10:g.15391481dup, NC_000019.10:g.15391480_15391481dup, NC_000019.10:g.15391479_15391481dup, NC_000019.10:g.15391478_15391481dup, NC_000019.10:g.15391477_15391481dup, NC_000019.10:g.15391459_15391481dup, NC_000019.9:g.15502281_15502292del, NC_000019.9:g.15502282_15502292del, NC_000019.9:g.15502283_15502292del, NC_000019.9:g.15502284_15502292del, NC_000019.9:g.15502285_15502292del, NC_000019.9:g.15502286_15502292del, NC_000019.9:g.15502287_15502292del, NC_000019.9:g.15502290_15502292del, NC_000019.9:g.15502291_15502292del, NC_000019.9:g.15502292del, NC_000019.9:g.15502292dup, NC_000019.9:g.15502291_15502292dup, NC_000019.9:g.15502290_15502292dup, NC_000019.9:g.15502289_15502292dup, NC_000019.9:g.15502288_15502292dup, NC_000019.9:g.15502270_15502292dup

Select item 14915464324.

rs1491546432 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:15415898 (GRCh38)
19:15526710 (GRCh37)
Canonical SPDI:: NC_000019.10:15415898::C
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000385/4 (GnomAD)
HGVS:: NC_000019.10:g.15415898_15415899insC, NC_000019.9:g.15526709_15526710insC

Select item 14914661025.

rs1491466102 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:15384300 (GRCh38)
19:15495112 (GRCh37)
Canonical SPDI:: NC_000019.10:15384300:T:TT
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000496/8 (TOMMO)
HGVS:: NC_000019.10:g.15384301dup, NC_000019.9:g.15495112dup, NG_046946.1:g.528dup

Select item 14913483986.

rs1491348398 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATAC [Show Flanks]
Chromosome:: 19:15410951 (GRCh38)
19:15521763 (GRCh37)
Canonical SPDI:: NC_000019.10:15410951:ATAC:ATACATAC
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATACATAC=0./0 (ALFA)
ATAC=0.000007/1 (GnomAD)
ATAC=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.15410952_15410955dup, NC_000019.9:g.15521763_15521766dup

Select item 14912935247.

rs1491293524 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:15384300 (GRCh38)
19:15495111 (GRCh37)
Canonical SPDI:: NC_000019.10:15384299:CT:
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00007/1 (ALFA)
HGVS:: NC_000019.10:g.15384300_15384301del, NC_000019.9:g.15495111_15495112del, NG_046946.1:g.528_529del

Select item 14912751828.

rs1491275182 has merged into rs141168895 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 19:15400410 (GRCh38)
19:15511221 (GRCh37)
Canonical SPDI:: NC_000019.10:15400409:AAAA:AAA,NC_000019.10:15400409:AAAA:AAAAA
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0.000324/6 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00005/7 (GnomAD)
HGVS:: NC_000019.10:g.15400413del, NC_000019.10:g.15400413dup, NC_000019.9:g.15511224del, NC_000019.9:g.15511224dup

Select item 14912527319.

rs1491252731 has merged into rs35729766 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:15393912 (GRCh38)
19:15504723 (GRCh37)
Canonical SPDI:: NC_000019.10:15393903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:15393903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:15393903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:15393903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:15393903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:15393903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:15393903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:15393903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:15393903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:15393903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:15393903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:15393903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:15393903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.1538/770 (1000Genomes)
HGVS:: NC_000019.10:g.15393912_15393923del, NC_000019.10:g.15393916_15393923del, NC_000019.10:g.15393919_15393923del, NC_000019.10:g.15393920_15393923del, NC_000019.10:g.15393921_15393923del, NC_000019.10:g.15393922_15393923del, NC_000019.10:g.15393923del, NC_000019.10:g.15393923dup, NC_000019.10:g.15393922_15393923dup, NC_000019.10:g.15393920_15393923dup, NC_000019.10:g.15393919_15393923dup, NC_000019.10:g.15393917_15393923dup, NC_000019.10:g.15393904_15393923A[20]TAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.15504723_15504734del, NC_000019.9:g.15504727_15504734del, NC_000019.9:g.15504730_15504734del, NC_000019.9:g.15504731_15504734del, NC_000019.9:g.15504732_15504734del, NC_000019.9:g.15504733_15504734del, NC_000019.9:g.15504734del, NC_000019.9:g.15504734dup, NC_000019.9:g.15504733_15504734dup, NC_000019.9:g.15504731_15504734dup, NC_000019.9:g.15504730_15504734dup, NC_000019.9:g.15504728_15504734dup, NC_000019.9:g.15504715_15504734A[20]TAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149121246210.

rs1491212462 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:15389234 (GRCh38)
19:15500046 (GRCh37)
Canonical SPDI:: NC_000019.10:15389234:G:GG
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.15389235dup, NC_000019.9:g.15500046dup

Select item 149117503811.

rs1491175038 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:15410953 (GRCh38)
19:15521764 (GRCh37)
Canonical SPDI:: NC_000019.10:15410950:TATA:TA
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.15410951TA[1], NC_000019.9:g.15521762TA[1]

Select item 149109467212.

rs1491094672 has merged into rs60781424 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 19:15415906 (GRCh38)
19:15526717 (GRCh37)
Canonical SPDI:: NC_000019.10:15415897:AAAAAAAAAA:AAAAAAAA,NC_000019.10:15415897:AAAAAAAAAA:AAAAAAAAA,NC_000019.10:15415897:AAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:15415897:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.01914/320 (TOMMO)
A=0.03166/58 (Korea1K)
A=0.13698/686 (1000Genomes)
A=0.22408/134 (NorthernSweden)
A=0.23948/239 (GoNL)
HGVS:: NC_000019.10:g.15415906_15415907del, NC_000019.10:g.15415907del, NC_000019.10:g.15415907dup, NC_000019.10:g.15415906_15415907dup, NC_000019.9:g.15526717_15526718del, NC_000019.9:g.15526718del, NC_000019.9:g.15526718dup, NC_000019.9:g.15526717_15526718dup

Select item 149106565213.

rs1491065652 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:15416141 (GRCh38)
19:15526952 (GRCh37)
Canonical SPDI:: NC_000019.10:15416138:AGAG:AG
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000084/1 (ALFA)
-=0.000057/8 (GnomAD)
HGVS:: NC_000019.10:g.15416139AG[1], NC_000019.9:g.15526950AG[1]

Select item 149099183514.

rs1490991835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:15416454 (GRCh38)
19:15527265 (GRCh37)
Canonical SPDI:: NC_000019.10:15416453:G:A
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.15416454G>A, NC_000019.9:g.15527265G>A

Select item 149098093215.

rs1490980932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:15418786 (GRCh38)
19:15529597 (GRCh37)
Canonical SPDI:: NC_000019.10:15418785:C:A
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.15418786C>A, NC_000019.9:g.15529597C>A

Select item 149095795216.

rs1490957952 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:15385110 (GRCh38)
19:15495921 (GRCh37)
Canonical SPDI:: NC_000019.10:15385109:T:A
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.15385110T>A, NC_000019.9:g.15495921T>A

Select item 149091318817.

rs1490913188 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:15391577 (GRCh38)
19:15502388 (GRCh37)
Canonical SPDI:: NC_000019.10:15391576:T:C
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00002/1 (GnomAD)
HGVS:: NC_000019.10:g.15391577T>C, NC_000019.9:g.15502388T>C

Select item 149081596918.

rs1490815969 [Homo sapiens]

Variant type:: DELINS
Alleles:: GATAA>- [Show Flanks]
Chromosome:: 19:15420169 (GRCh38)
19:15530980 (GRCh37)
Canonical SPDI:: NC_000019.10:15420164:ATAAGATAA:ATAA
Gene:: AKAP8L (Varview), WIZ (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: ATAA=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.15420169_15420173del, NC_000019.9:g.15530980_15530984del, XM_005260005.5:c.*2907_*2911del, XM_005260006.5:c.*2907_*2911del, XM_005260007.5:c.*2907_*2911del, NM_001371603.5:c.*2907_*2911del, NM_001371603.4:c.*2907_*2911del, NM_001371603.3:c.*2907_*2911del, NM_001371603.2:c.*2907_*2911del, NM_001371603.1:c.*2907_*2911del, XM_005260008.4:c.*2907_*2911del, XM_005260011.4:c.*2907_*2911del, XM_005260010.4:c.*2907_*2911del, NM_001330395.4:c.*2907_*2911del, NM_001330395.3:c.*2907_*2911del, NM_001330395.2:c.*2907_*2911del, XM_011528163.3:c.*2907_*2911del, NM_021241.3:c.*2907_*2911del, XM_047439175.1:c.*2907_*2911del, NM_001371589.1:c.*2907_*2911del, XM_047439176.1:c.*2907_*2911del, NM_001411129.1:c.*2907_*2911del, XM_047439177.1:c.*2907_*2911del, XM_047439179.1:c.*2907_*2911del, XM_047439178.1:c.*2907_*2911del, XM_047439180.1:c.*2907_*2911del, XM_047439181.1:c.*2907_*2911del

Select item 149072859119.

rs1490728591 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:15384631 (GRCh38)
19:15495442 (GRCh37)
Canonical SPDI:: NC_000019.10:15384630:T:C
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.15384631T>C, NC_000019.9:g.15495442T>C, NG_046946.1:g.198A>G

Select item 149058449420.

rs1490584494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:15414542 (GRCh38)
19:15525353 (GRCh37)
Canonical SPDI:: NC_000019.10:15414541:G:A
Gene:: AKAP8L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.15414542G>A, NC_000019.9:g.15525353G>A

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