SNP Links for Gene (Select 115752) - SNP

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Select item 14915837781.

rs1491583778 has merged into rs796186674 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 15:66317355 (GRCh38)
15:66609693 (GRCh37)
Canonical SPDI:: NC_000015.10:66317345:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:66317345:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:66317345:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:66317345:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:66317345:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:66317345:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:66317345:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:66317345:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:66317345:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: DIS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.08984/46 (NorthernSweden)
HGVS:: NC_000015.10:g.66317355_66317362del, NC_000015.10:g.66317356_66317362del, NC_000015.10:g.66317357_66317362del, NC_000015.10:g.66317359_66317362del, NC_000015.10:g.66317361_66317362del, NC_000015.10:g.66317362del, NC_000015.10:g.66317362dup, NC_000015.10:g.66317361_66317362dup, NC_000015.10:g.66317360_66317362dup, NC_000015.9:g.66609693_66609700del, NC_000015.9:g.66609694_66609700del, NC_000015.9:g.66609695_66609700del, NC_000015.9:g.66609697_66609700del, NC_000015.9:g.66609699_66609700del, NC_000015.9:g.66609700del, NC_000015.9:g.66609700dup, NC_000015.9:g.66609699_66609700dup, NC_000015.9:g.66609698_66609700dup, NG_050688.1:g.29100_29107del, NG_050688.1:g.29101_29107del, NG_050688.1:g.29102_29107del, NG_050688.1:g.29104_29107del, NG_050688.1:g.29106_29107del, NG_050688.1:g.29107del, NG_050688.1:g.29107dup, NG_050688.1:g.29106_29107dup, NG_050688.1:g.29105_29107dup

Select item 14915141362.

rs1491514136 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:66311547 (GRCh38)
15:66603886 (GRCh37)
Canonical SPDI:: NC_000015.10:66311547:GGGG:GGGGG
Gene:: DIS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
HGVS:: NC_000015.10:g.66311551dup, NC_000015.9:g.66603889dup, NG_050688.1:g.23296dup

Select item 14914929643.

rs1491492964 has merged into rs1208580556 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 15:66313859 (GRCh38)
15:66606197 (GRCh37)
Canonical SPDI:: NC_000015.10:66313851:TATATATAT:TATATAT,NC_000015.10:66313851:TATATATAT:TATATATATAT
Gene:: DIS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATAT=0.003394/60 (ALFA)
-=0.016623/4400 (TOPMED)
-=0.016667/10 (NorthernSweden)
-=0.01848/2492 (GnomAD)
HGVS:: NC_000015.10:g.66313853AT[3], NC_000015.10:g.66313853AT[5], NC_000015.9:g.66606191AT[3], NC_000015.9:g.66606191AT[5], NG_050688.1:g.25598AT[3], NG_050688.1:g.25598AT[5]

Select item 14914797674.

rs1491479767 has merged into rs778480622 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 15:66332500 (GRCh38)
15:66624838 (GRCh37)
Canonical SPDI:: NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:66332485:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: DIS3L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
GTGTGTGTGTGT=0./0 (GENOME_DK)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.66332486GT[7], NC_000015.10:g.66332486GT[8], NC_000015.10:g.66332486GT[9], NC_000015.10:g.66332486GT[10], NC_000015.10:g.66332486GT[11], NC_000015.10:g.66332486GT[12], NC_000015.10:g.66332486GT[13], NC_000015.10:g.66332486GT[14], NC_000015.10:g.66332486GT[16], NC_000015.10:g.66332486GT[17], NC_000015.10:g.66332486GT[18], NC_000015.10:g.66332486GT[19], NC_000015.10:g.66332486GT[20], NC_000015.10:g.66332486GT[21], NC_000015.10:g.66332486GT[22], NC_000015.10:g.66332486GT[23], NC_000015.10:g.66332486GT[24], NC_000015.10:g.66332486GT[25], NC_000015.10:g.66332486GT[27], NC_000015.9:g.66624824GT[7], NC_000015.9:g.66624824GT[8], NC_000015.9:g.66624824GT[9], NC_000015.9:g.66624824GT[10], NC_000015.9:g.66624824GT[11], NC_000015.9:g.66624824GT[12], NC_000015.9:g.66624824GT[13], NC_000015.9:g.66624824GT[14], NC_000015.9:g.66624824GT[16], NC_000015.9:g.66624824GT[17], NC_000015.9:g.66624824GT[18], NC_000015.9:g.66624824GT[19], NC_000015.9:g.66624824GT[20], NC_000015.9:g.66624824GT[21], NC_000015.9:g.66624824GT[22], NC_000015.9:g.66624824GT[23], NC_000015.9:g.66624824GT[24], NC_000015.9:g.66624824GT[25], NC_000015.9:g.66624824GT[27], NG_050688.1:g.44231GT[7], NG_050688.1:g.44231GT[8], NG_050688.1:g.44231GT[9], NG_050688.1:g.44231GT[10], NG_050688.1:g.44231GT[11], NG_050688.1:g.44231GT[12], NG_050688.1:g.44231GT[13], NG_050688.1:g.44231GT[14], NG_050688.1:g.44231GT[16], NG_050688.1:g.44231GT[17], NG_050688.1:g.44231GT[18], NG_050688.1:g.44231GT[19], NG_050688.1:g.44231GT[20], NG_050688.1:g.44231GT[21], NG_050688.1:g.44231GT[22], NG_050688.1:g.44231GT[23], NG_050688.1:g.44231GT[24], NG_050688.1:g.44231GT[25], NG_050688.1:g.44231GT[27]

Select item 14914355085.

rs1491435508 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 15:66311547 (GRCh38)
15:66603885 (GRCh37)
Canonical SPDI:: NC_000015.10:66311546:AG:
Gene:: DIS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.66311547_66311548del, NC_000015.9:g.66603885_66603886del, NG_050688.1:g.23292_23293del

Select item 14913583506.

rs1491358350 has merged into rs755352490 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 15:66313777 (GRCh38)
15:66606115 (GRCh37)
Canonical SPDI:: NC_000015.10:66313769:TATATATATAT:TATATAT,NC_000015.10:66313769:TATATATATAT:TATATATAT,NC_000015.10:66313769:TATATATATAT:TATATATATATAT
Gene:: DIS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
TA=0.00007/1 (TOMMO)
TA=0.01178/7 (NorthernSweden)
HGVS:: NC_000015.10:g.66313771AT[3], NC_000015.10:g.66313771AT[4], NC_000015.10:g.66313771AT[6], NC_000015.9:g.66606109AT[3], NC_000015.9:g.66606109AT[4], NC_000015.9:g.66606109AT[6], NG_050688.1:g.25516AT[3], NG_050688.1:g.25516AT[4], NG_050688.1:g.25516AT[6]

Select item 14912394967.

rs1491239496 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGTGTGT [Show Flanks]
Chromosome:: 15:66332486 (GRCh38)
15:66624825 (GRCh37)
Canonical SPDI:: NC_000015.10:66332486:TGTGTGT:TGTGTGTATGTGTGT
Gene:: DIS3L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGTATGTGTGT=0./0 (ALFA)
TGTGTGTA=0.00036/8 (GnomAD)
HGVS:: NC_000015.10:g.66332487_66332493TG[3]TATGTGTGT[1], NC_000015.9:g.66624825_66624831TG[3]TATGTGTGT[1], NG_050688.1:g.44232_44238TG[3]TATGTGTGT[1]

Select item 14912391108.

rs1491239110 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C,CC [Show Flanks]
Chromosome:: 15:66291654 (GRCh38)
15:66583993 (GRCh37)
Canonical SPDI:: NC_000015.10:66291654:C:CC,NC_000015.10:66291654:C:CCC
Gene:: DIS3L (Varview), DIS3L-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
HGVS:: NC_000015.10:g.66291655dup, NC_000015.10:g.66291655_66291656insCC, NC_000015.9:g.66583993dup, NC_000015.9:g.66583993_66583994insCC, NG_050688.1:g.3400dup, NG_050688.1:g.3400_3401insCC

Select item 14911986309.

rs1491198630 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 15:66317842 (GRCh38)
15:66610181 (GRCh37)
Canonical SPDI:: NC_000015.10:66317842:A:AGA
Gene:: DIS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
AG=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.66317843_66317844insGA, NC_000015.9:g.66610181_66610182insGA, NG_050688.1:g.29588_29589insGA

Select item 149117291110.

rs1491172911 has merged into rs34711611 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:66304098 (GRCh38)
15:66596436 (GRCh37)
Canonical SPDI:: NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:66304089:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DIS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.1284/495 (ALSPAC)
HGVS:: NC_000015.10:g.66304098_66304112del, NC_000015.10:g.66304099_66304112del, NC_000015.10:g.66304100_66304112del, NC_000015.10:g.66304101_66304112del, NC_000015.10:g.66304102_66304112del, NC_000015.10:g.66304103_66304112del, NC_000015.10:g.66304104_66304112del, NC_000015.10:g.66304105_66304112del, NC_000015.10:g.66304106_66304112del, NC_000015.10:g.66304108_66304112del, NC_000015.10:g.66304109_66304112del, NC_000015.10:g.66304110_66304112del, NC_000015.10:g.66304111_66304112del, NC_000015.10:g.66304112del, NC_000015.10:g.66304112dup, NC_000015.10:g.66304111_66304112dup, NC_000015.10:g.66304110_66304112dup, NC_000015.10:g.66304109_66304112dup, NC_000015.10:g.66304108_66304112dup, NC_000015.10:g.66304096_66304112dup, NC_000015.10:g.66304112_66304113insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.66596436_66596450del, NC_000015.9:g.66596437_66596450del, NC_000015.9:g.66596438_66596450del, NC_000015.9:g.66596439_66596450del, NC_000015.9:g.66596440_66596450del, NC_000015.9:g.66596441_66596450del, NC_000015.9:g.66596442_66596450del, NC_000015.9:g.66596443_66596450del, NC_000015.9:g.66596444_66596450del, NC_000015.9:g.66596446_66596450del, NC_000015.9:g.66596447_66596450del, NC_000015.9:g.66596448_66596450del, NC_000015.9:g.66596449_66596450del, NC_000015.9:g.66596450del, NC_000015.9:g.66596450dup, NC_000015.9:g.66596449_66596450dup, NC_000015.9:g.66596448_66596450dup, NC_000015.9:g.66596447_66596450dup, NC_000015.9:g.66596446_66596450dup, NC_000015.9:g.66596434_66596450dup, NC_000015.9:g.66596450_66596451insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_050688.1:g.15843_15857del, NG_050688.1:g.15844_15857del, NG_050688.1:g.15845_15857del, NG_050688.1:g.15846_15857del, NG_050688.1:g.15847_15857del, NG_050688.1:g.15848_15857del, NG_050688.1:g.15849_15857del, NG_050688.1:g.15850_15857del, NG_050688.1:g.15851_15857del, NG_050688.1:g.15853_15857del, NG_050688.1:g.15854_15857del, NG_050688.1:g.15855_15857del, NG_050688.1:g.15856_15857del, NG_050688.1:g.15857del, NG_050688.1:g.15857dup, NG_050688.1:g.15856_15857dup, NG_050688.1:g.15855_15857dup, NG_050688.1:g.15854_15857dup, NG_050688.1:g.15853_15857dup, NG_050688.1:g.15841_15857dup, NG_050688.1:g.15857_15858insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149112031611.

rs1491120316 has merged into rs939239211 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 15:66313755 (GRCh38)
15:66606093 (GRCh37)
Canonical SPDI:: NC_000015.10:66313751:TATAT:TAT,NC_000015.10:66313751:TATAT:TATATAT
Gene:: DIS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATAT=0./0 (ALFA)
-=0.000152/21 (GnomAD)
-=0.000779/13 (TOMMO)
HGVS:: NC_000015.10:g.66313753AT[1], NC_000015.10:g.66313753AT[3], NC_000015.9:g.66606091AT[1], NC_000015.9:g.66606091AT[3], NG_050688.1:g.25498AT[1], NG_050688.1:g.25498AT[3]

Select item 149108403312.

rs1491084033 has merged into rs112874647 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 15:66320430 (GRCh38)
15:66612768 (GRCh37)
Canonical SPDI:: NC_000015.10:66320422:AAAAAAAAAA:AAAAAAA,NC_000015.10:66320422:AAAAAAAAAA:AAAAAAAA,NC_000015.10:66320422:AAAAAAAAAA:AAAAAAAAA,NC_000015.10:66320422:AAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:66320422:AAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:66320422:AAAAAAAAAA:AAAAAAAAAAAAA
Gene:: DIS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
A=0.195/117 (NorthernSweden)
A=0.25/10 (GENOME_DK)
A=0.265372/984 (TWINSUK)
A=0.269331/1038 (ALSPAC)
HGVS:: NC_000015.10:g.66320430_66320432del, NC_000015.10:g.66320431_66320432del, NC_000015.10:g.66320432del, NC_000015.10:g.66320432dup, NC_000015.10:g.66320431_66320432dup, NC_000015.10:g.66320430_66320432dup, NC_000015.9:g.66612768_66612770del, NC_000015.9:g.66612769_66612770del, NC_000015.9:g.66612770del, NC_000015.9:g.66612770dup, NC_000015.9:g.66612769_66612770dup, NC_000015.9:g.66612768_66612770dup, NG_050688.1:g.32175_32177del, NG_050688.1:g.32176_32177del, NG_050688.1:g.32177del, NG_050688.1:g.32177dup, NG_050688.1:g.32176_32177dup, NG_050688.1:g.32175_32177dup

Select item 149102881713.

rs1491028817 has merged into rs60043560 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCC>-,C,CC,CCC,CCCC,CCCCCC,CCCCCCC [Show Flanks]
Chromosome:: 15:66291665 (GRCh38)
15:66584003 (GRCh37)
Canonical SPDI:: NC_000015.10:66291656:CCCCCCCCCCCCC:CCCCCCCC,NC_000015.10:66291656:CCCCCCCCCCCCC:CCCCCCCCC,NC_000015.10:66291656:CCCCCCCCCCCCC:CCCCCCCCCC,NC_000015.10:66291656:CCCCCCCCCCCCC:CCCCCCCCCCC,NC_000015.10:66291656:CCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000015.10:66291656:CCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000015.10:66291656:CCCCCCCCCCCCC:CCCCCCCCCCCCCCC
Gene:: DIS3L (Varview), DIS3L-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
HGVS:: NC_000015.10:g.66291665_66291669del, NC_000015.10:g.66291666_66291669del, NC_000015.10:g.66291667_66291669del, NC_000015.10:g.66291668_66291669del, NC_000015.10:g.66291669del, NC_000015.10:g.66291669dup, NC_000015.10:g.66291668_66291669dup, NC_000015.9:g.66584003_66584007del, NC_000015.9:g.66584004_66584007del, NC_000015.9:g.66584005_66584007del, NC_000015.9:g.66584006_66584007del, NC_000015.9:g.66584007del, NC_000015.9:g.66584007dup, NC_000015.9:g.66584006_66584007dup, NG_050688.1:g.3410_3414del, NG_050688.1:g.3411_3414del, NG_050688.1:g.3412_3414del, NG_050688.1:g.3413_3414del, NG_050688.1:g.3414del, NG_050688.1:g.3414dup, NG_050688.1:g.3413_3414dup

Select item 149097596514.

rs1490975965 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:66328960 (GRCh38)
15:66621298 (GRCh37)
Canonical SPDI:: NC_000015.10:66328959:T:C
Gene:: DIS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.66328960T>C, NC_000015.9:g.66621298T>C, NG_050688.1:g.40705T>C

Select item 149088978215.

rs1490889782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:66296239 (GRCh38)
15:66588577 (GRCh37)
Canonical SPDI:: NC_000015.10:66296238:T:C
Gene:: DIS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.66296239T>C, NC_000015.9:g.66588577T>C, NG_050688.1:g.7984T>C

Select item 149088112516.

rs1490881125 has merged into rs1347620264 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,GGG [Show Flanks]
Chromosome:: 15:66311291 (GRCh38)
15:66603629 (GRCh37)
Canonical SPDI:: NC_000015.10:66311287:GGGGG:GGG,NC_000015.10:66311287:GGGGG:GGGGGG
Gene:: DIS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.66311291_66311292del, NC_000015.10:g.66311292dup, NC_000015.9:g.66603629_66603630del, NC_000015.9:g.66603630dup, NG_050688.1:g.23036_23037del, NG_050688.1:g.23037dup

Select item 149076498217.

rs1490764982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:66304756 (GRCh38)
15:66597094 (GRCh37)
Canonical SPDI:: NC_000015.10:66304755:C:T
Gene:: DIS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.66304756C>T, NC_000015.9:g.66597094C>T, NG_050688.1:g.16501C>T

Select item 149071441518.

rs1490714415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:66318949 (GRCh38)
15:66611287 (GRCh37)
Canonical SPDI:: NC_000015.10:66318948:C:A,NC_000015.10:66318948:C:T
Gene:: DIS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000015.10:g.66318949C>A, NC_000015.10:g.66318949C>T, NC_000015.9:g.66611287C>A, NC_000015.9:g.66611287C>T, NG_050688.1:g.30694C>A, NG_050688.1:g.30694C>T

Select item 149070912019.

rs1490709120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:66325940 (GRCh38)
15:66618278 (GRCh37)
Canonical SPDI:: NC_000015.10:66325939:G:C
Gene:: DIS3L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.66325940G>C, NC_000015.9:g.66618278G>C, NG_050688.1:g.37685G>C, NM_133375.5:c.1528G>C, NM_133375.4:c.1528G>C, NM_133375.3:c.1528G>C, NM_001143688.3:c.1777G>C, NM_001143688.2:c.1777G>C, NM_001143688.1:c.1777G>C, NM_001323945.2:c.1528G>C, NM_001323945.1:c.1528G>C, NM_001323941.2:c.1375G>C, NM_001323941.1:c.1375G>C, NM_001323944.2:c.1726G>C, NM_001323944.1:c.1726G>C, NM_001323939.2:c.1375G>C, NM_001323939.1:c.1375G>C, NM_001323946.2:c.1375G>C, NM_001323946.1:c.1375G>C, NM_001323948.2:c.1597G>C, NM_001323948.1:c.1597G>C, NM_001323943.2:c.667G>C, NM_001323943.1:c.667G>C, NM_001323938.2:c.1375G>C, NM_001323938.1:c.1375G>C, NM_001323936.2:c.1528G>C, NM_001323936.1:c.1528G>C, NM_001323940.2:c.667G>C, NM_001323940.1:c.667G>C, NM_001323937.2:c.1399G>C, NM_001323937.1:c.1399G>C, XM_005254146.5:c.1777G>C, XM_005254146.4:c.1777G>C, XM_005254146.3:c.1777G>C, XM_005254146.2:c.1777G>C, XM_005254146.1:c.1777G>C, NP_588616.1:p.Ala510Pro, NP_001137160.1:p.Ala593Pro, NP_001310874.1:p.Ala510Pro, NP_001310870.1:p.Ala459Pro, NP_001310873.1:p.Ala576Pro, NP_001310868.1:p.Ala459Pro, NP_001310875.1:p.Ala459Pro, NP_001310877.1:p.Ala533Pro, NP_001310872.1:p.Ala223Pro, NP_001310867.1:p.Ala459Pro, NP_001310865.1:p.Ala510Pro, NP_001310869.1:p.Ala223Pro, NP_001310866.1:p.Ala467Pro, XP_005254203.1:p.Ala593Pro

Select item 149068919120.

rs1490689191 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:66321770 (GRCh38)
15:66614109 (GRCh37)
Canonical SPDI:: NC_000015.10:66321770::C
Gene:: DIS3L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.004721/56 (ALFA)
C=0.00609/39 (1000Genomes)
C=0.00723/1013 (GnomAD)
HGVS:: NC_000015.10:g.66321770_66321771insC, NC_000015.9:g.66614108_66614109insC, NG_050688.1:g.33515_33516insC

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