SNP Links for Gene (Select 89891) - SNP

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Select item 14915798411.

rs1491579841 has merged into rs57194999 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATTATATATATATATATATATATAT,ATATATATATATTATATATATATATATATATATATAATATATATATATATATATATAT,ATATATATATATTATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 9:128650539 (GRCh38)
9:131412818 (GRCh37)
Canonical SPDI:: NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATTATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATTATATATATATATATATATATATAATATATATATATATATATATAT,NC_000009.12:128650526:ATATATATATATATATATATAT:ATATATATATATATATATATATATTATATATATATATATATATATATATATATATATATAT
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000009.12:g.128650527AT[6], NC_000009.12:g.128650527AT[7], NC_000009.12:g.128650527AT[8], NC_000009.12:g.128650527AT[9], NC_000009.12:g.128650527AT[10], NC_000009.12:g.128650527AT[12], NC_000009.12:g.128650527AT[13], NC_000009.12:g.128650527AT[14], NC_000009.12:g.128650527AT[15], NC_000009.12:g.128650527AT[16], NC_000009.12:g.128650527AT[17], NC_000009.12:g.128650527AT[18], NC_000009.12:g.128650527AT[19], NC_000009.12:g.128650527AT[20], NC_000009.12:g.128650527AT[21], NC_000009.12:g.128650527AT[22], NC_000009.12:g.128650527AT[23], NC_000009.12:g.128650527AT[24], NC_000009.12:g.128650527AT[25], NC_000009.12:g.128650527AT[26], NC_000009.12:g.128650527AT[27], NC_000009.12:g.128650527AT[29], NC_000009.12:g.128650527AT[31], NC_000009.12:g.128650527AT[32], NC_000009.12:g.128650527_128650548AT[12]TA[11]T[1], NC_000009.12:g.128650527_128650548AT[12]TA[12]AT[11], NC_000009.12:g.128650527_128650548AT[12]TA[18]T[1], NC_000009.11:g.131412806AT[6], NC_000009.11:g.131412806AT[7], NC_000009.11:g.131412806AT[8], NC_000009.11:g.131412806AT[9], NC_000009.11:g.131412806AT[10], NC_000009.11:g.131412806AT[12], NC_000009.11:g.131412806AT[13], NC_000009.11:g.131412806AT[14], NC_000009.11:g.131412806AT[15], NC_000009.11:g.131412806AT[16], NC_000009.11:g.131412806AT[17], NC_000009.11:g.131412806AT[18], NC_000009.11:g.131412806AT[19], NC_000009.11:g.131412806AT[20], NC_000009.11:g.131412806AT[21], NC_000009.11:g.131412806AT[22], NC_000009.11:g.131412806AT[23], NC_000009.11:g.131412806AT[24], NC_000009.11:g.131412806AT[25], NC_000009.11:g.131412806AT[26], NC_000009.11:g.131412806AT[27], NC_000009.11:g.131412806AT[29], NC_000009.11:g.131412806AT[31], NC_000009.11:g.131412806AT[32], NC_000009.11:g.131412806_131412827AT[12]TA[11]T[1], NC_000009.11:g.131412806_131412827AT[12]TA[12]AT[11], NC_000009.11:g.131412806_131412827AT[12]TA[18]T[1], NG_034056.1:g.11303AT[6], NG_034056.1:g.11303AT[7], NG_034056.1:g.11303AT[8], NG_034056.1:g.11303AT[9], NG_034056.1:g.11303AT[10], NG_034056.1:g.11303AT[12], NG_034056.1:g.11303AT[13], NG_034056.1:g.11303AT[14], NG_034056.1:g.11303AT[15], NG_034056.1:g.11303AT[16], NG_034056.1:g.11303AT[17], NG_034056.1:g.11303AT[18], NG_034056.1:g.11303AT[19], NG_034056.1:g.11303AT[20], NG_034056.1:g.11303AT[21], NG_034056.1:g.11303AT[22], NG_034056.1:g.11303AT[23], NG_034056.1:g.11303AT[24], NG_034056.1:g.11303AT[25], NG_034056.1:g.11303AT[26], NG_034056.1:g.11303AT[27], NG_034056.1:g.11303AT[29], NG_034056.1:g.11303AT[31], NG_034056.1:g.11303AT[32], NG_034056.1:g.11303_11324ATATATATATATATATATATATA[2]T[1], NG_034056.1:g.11303_11324AT[11]TA[12]AT[12], NG_034056.1:g.11303_11324AT[18]AATATATATATATATATATATATAT[1]

Select item 14915627312.

rs1491562731 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 9:128644276 (GRCh38)
9:131406556 (GRCh37)
Canonical SPDI:: NC_000009.12:128644276:T:TCT
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
TC=0.02941/2 (GnomAD)
HGVS:: NC_000009.12:g.128644277_128644278insCT, NC_000009.11:g.131406556_131406557insCT, NG_034056.1:g.17574_17575insGA

Select item 14915503933.

rs1491550393 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:128645616 (GRCh38)
9:131407895 (GRCh37)
Canonical SPDI:: NC_000009.12:128645615:CA:
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00076/9 (ALFA)
-=0.00006/2 (GnomAD)
-=0.00061/15 (TOMMO)
HGVS:: NC_000009.12:g.128645616_128645617del, NC_000009.11:g.131407895_131407896del, NG_034056.1:g.16234_16235del

Select item 14915221324.

rs1491522132 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:128642453 (GRCh38)
9:131404732 (GRCh37)
Canonical SPDI:: NC_000009.12:128642452:CA:
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01433/170 (ALFA)
-=0.00155/41 (TOMMO)
-=0.00291/117 (GnomAD)
HGVS:: NC_000009.12:g.128642453_128642454del, NC_000009.11:g.131404732_131404733del, NG_034056.1:g.19397_19398del

Select item 14914864915.

rs1491486491 has merged into rs34018869 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:128642466 (GRCh38)
9:131404745 (GRCh37)
Canonical SPDI:: NC_000009.12:128642453:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:128642453:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:128642453:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:128642453:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:128642453:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:128642453:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:128642453:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:128642453:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:128642453:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:128642453:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128642453:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128642453:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128642453:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128642453:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128642453:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.3401/1703 (1000Genomes)
AA=0.35/14 (GENOME_DK)
HGVS:: NC_000009.12:g.128642466_128642477del, NC_000009.12:g.128642467_128642477del, NC_000009.12:g.128642468_128642477del, NC_000009.12:g.128642469_128642477del, NC_000009.12:g.128642470_128642477del, NC_000009.12:g.128642471_128642477del, NC_000009.12:g.128642472_128642477del, NC_000009.12:g.128642473_128642477del, NC_000009.12:g.128642474_128642477del, NC_000009.12:g.128642475_128642477del, NC_000009.12:g.128642476_128642477del, NC_000009.12:g.128642477del, NC_000009.12:g.128642477dup, NC_000009.12:g.128642476_128642477dup, NC_000009.12:g.128642475_128642477dup, NC_000009.11:g.131404745_131404756del, NC_000009.11:g.131404746_131404756del, NC_000009.11:g.131404747_131404756del, NC_000009.11:g.131404748_131404756del, NC_000009.11:g.131404749_131404756del, NC_000009.11:g.131404750_131404756del, NC_000009.11:g.131404751_131404756del, NC_000009.11:g.131404752_131404756del, NC_000009.11:g.131404753_131404756del, NC_000009.11:g.131404754_131404756del, NC_000009.11:g.131404755_131404756del, NC_000009.11:g.131404756del, NC_000009.11:g.131404756dup, NC_000009.11:g.131404755_131404756dup, NC_000009.11:g.131404754_131404756dup, NG_034056.1:g.19386_19397del, NG_034056.1:g.19387_19397del, NG_034056.1:g.19388_19397del, NG_034056.1:g.19389_19397del, NG_034056.1:g.19390_19397del, NG_034056.1:g.19391_19397del, NG_034056.1:g.19392_19397del, NG_034056.1:g.19393_19397del, NG_034056.1:g.19394_19397del, NG_034056.1:g.19395_19397del, NG_034056.1:g.19396_19397del, NG_034056.1:g.19397del, NG_034056.1:g.19397dup, NG_034056.1:g.19396_19397dup, NG_034056.1:g.19395_19397dup

Select item 14914823386.

rs1491482338 has merged into rs35883171 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 9:128647746 (GRCh38)
9:131410025 (GRCh37)
Canonical SPDI:: NC_000009.12:128647731:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:128647731:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:128647731:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:128647731:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:128647731:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:128647731:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:128647731:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128647731:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128647731:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128647731:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2851/1428 (1000Genomes)
HGVS:: NC_000009.12:g.128647746_128647751del, NC_000009.12:g.128647747_128647751del, NC_000009.12:g.128647748_128647751del, NC_000009.12:g.128647749_128647751del, NC_000009.12:g.128647750_128647751del, NC_000009.12:g.128647751del, NC_000009.12:g.128647751dup, NC_000009.12:g.128647750_128647751dup, NC_000009.12:g.128647749_128647751dup, NC_000009.12:g.128647748_128647751dup, NC_000009.11:g.131410025_131410030del, NC_000009.11:g.131410026_131410030del, NC_000009.11:g.131410027_131410030del, NC_000009.11:g.131410028_131410030del, NC_000009.11:g.131410029_131410030del, NC_000009.11:g.131410030del, NC_000009.11:g.131410030dup, NC_000009.11:g.131410029_131410030dup, NC_000009.11:g.131410028_131410030dup, NC_000009.11:g.131410027_131410030dup, NG_034056.1:g.14114_14119del, NG_034056.1:g.14115_14119del, NG_034056.1:g.14116_14119del, NG_034056.1:g.14117_14119del, NG_034056.1:g.14118_14119del, NG_034056.1:g.14119del, NG_034056.1:g.14119dup, NG_034056.1:g.14118_14119dup, NG_034056.1:g.14117_14119dup, NG_034056.1:g.14116_14119dup

Select item 14914684127.

rs1491468412 has merged into rs34133160 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 9:128642300 (GRCh38)
9:131404579 (GRCh37)
Canonical SPDI:: NC_000009.12:128642286:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:128642286:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:128642286:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:128642286:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:128642286:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:128642286:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:128642286:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128642286:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128642286:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128642286:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.5/4 (KOREAN)
HGVS:: NC_000009.12:g.128642300_128642306del, NC_000009.12:g.128642301_128642306del, NC_000009.12:g.128642302_128642306del, NC_000009.12:g.128642304_128642306del, NC_000009.12:g.128642305_128642306del, NC_000009.12:g.128642306del, NC_000009.12:g.128642306dup, NC_000009.12:g.128642305_128642306dup, NC_000009.12:g.128642304_128642306dup, NC_000009.12:g.128642303_128642306dup, NC_000009.11:g.131404579_131404585del, NC_000009.11:g.131404580_131404585del, NC_000009.11:g.131404581_131404585del, NC_000009.11:g.131404583_131404585del, NC_000009.11:g.131404584_131404585del, NC_000009.11:g.131404585del, NC_000009.11:g.131404585dup, NC_000009.11:g.131404584_131404585dup, NC_000009.11:g.131404583_131404585dup, NC_000009.11:g.131404582_131404585dup, NG_034056.1:g.19558_19564del, NG_034056.1:g.19559_19564del, NG_034056.1:g.19560_19564del, NG_034056.1:g.19562_19564del, NG_034056.1:g.19563_19564del, NG_034056.1:g.19564del, NG_034056.1:g.19564dup, NG_034056.1:g.19563_19564dup, NG_034056.1:g.19562_19564dup, NG_034056.1:g.19561_19564dup

Select item 14914548798.

rs1491454879 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 9:128642287 (GRCh38)
9:131404567 (GRCh37)
Canonical SPDI:: NC_000009.12:128642287:A:ACA
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0.00008/1 (ALFA)
AC=0.00036/2 (GnomAD)
HGVS:: NC_000009.12:g.128642288_128642289insCA, NC_000009.11:g.131404567_131404568insCA, NG_034056.1:g.19563_19564insGT

Select item 14914370809.

rs1491437080 has merged into rs59498068 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:128652442 (GRCh38)
9:131414721 (GRCh37)
Canonical SPDI:: NC_000009.12:128652432:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:128652432:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:128652432:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:128652432:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:128652432:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:128652432:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:128652432:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:128652432:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:128652432:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:128652432:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:128652432:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128652432:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128652432:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128652432:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128652432:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.128652442_128652451del, NC_000009.12:g.128652443_128652451del, NC_000009.12:g.128652444_128652451del, NC_000009.12:g.128652445_128652451del, NC_000009.12:g.128652446_128652451del, NC_000009.12:g.128652448_128652451del, NC_000009.12:g.128652449_128652451del, NC_000009.12:g.128652450_128652451del, NC_000009.12:g.128652451del, NC_000009.12:g.128652451dup, NC_000009.12:g.128652450_128652451dup, NC_000009.12:g.128652449_128652451dup, NC_000009.12:g.128652448_128652451dup, NC_000009.12:g.128652446_128652451dup, NC_000009.12:g.128652445_128652451dup, NC_000009.11:g.131414721_131414730del, NC_000009.11:g.131414722_131414730del, NC_000009.11:g.131414723_131414730del, NC_000009.11:g.131414724_131414730del, NC_000009.11:g.131414725_131414730del, NC_000009.11:g.131414727_131414730del, NC_000009.11:g.131414728_131414730del, NC_000009.11:g.131414729_131414730del, NC_000009.11:g.131414730del, NC_000009.11:g.131414730dup, NC_000009.11:g.131414729_131414730dup, NC_000009.11:g.131414728_131414730dup, NC_000009.11:g.131414727_131414730dup, NC_000009.11:g.131414725_131414730dup, NC_000009.11:g.131414724_131414730dup, NG_034056.1:g.9409_9418del, NG_034056.1:g.9410_9418del, NG_034056.1:g.9411_9418del, NG_034056.1:g.9412_9418del, NG_034056.1:g.9413_9418del, NG_034056.1:g.9415_9418del, NG_034056.1:g.9416_9418del, NG_034056.1:g.9417_9418del, NG_034056.1:g.9418del, NG_034056.1:g.9418dup, NG_034056.1:g.9417_9418dup, NG_034056.1:g.9416_9418dup, NG_034056.1:g.9415_9418dup, NG_034056.1:g.9413_9418dup, NG_034056.1:g.9412_9418dup

Select item 149133103810.

rs1491331038 has merged into rs746310535 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:128658732 (GRCh38)
9:131421011 (GRCh37)
Canonical SPDI:: NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128658721:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.128658732_128658744del, NC_000009.12:g.128658735_128658744del, NC_000009.12:g.128658738_128658744del, NC_000009.12:g.128658739_128658744del, NC_000009.12:g.128658740_128658744del, NC_000009.12:g.128658741_128658744del, NC_000009.12:g.128658742_128658744del, NC_000009.12:g.128658743_128658744del, NC_000009.12:g.128658744del, NC_000009.12:g.128658744dup, NC_000009.12:g.128658743_128658744dup, NC_000009.12:g.128658742_128658744dup, NC_000009.12:g.128658741_128658744dup, NC_000009.12:g.128658740_128658744dup, NC_000009.12:g.128658739_128658744dup, NC_000009.12:g.128658738_128658744dup, NC_000009.12:g.128658737_128658744dup, NC_000009.12:g.128658736_128658744dup, NC_000009.12:g.128658731_128658744dup, NC_000009.12:g.128658744_128658745insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.128658744_128658745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.131421011_131421023del, NC_000009.11:g.131421014_131421023del, NC_000009.11:g.131421017_131421023del, NC_000009.11:g.131421018_131421023del, NC_000009.11:g.131421019_131421023del, NC_000009.11:g.131421020_131421023del, NC_000009.11:g.131421021_131421023del, NC_000009.11:g.131421022_131421023del, NC_000009.11:g.131421023del, NC_000009.11:g.131421023dup, NC_000009.11:g.131421022_131421023dup, NC_000009.11:g.131421021_131421023dup, NC_000009.11:g.131421020_131421023dup, NC_000009.11:g.131421019_131421023dup, NC_000009.11:g.131421018_131421023dup, NC_000009.11:g.131421017_131421023dup, NC_000009.11:g.131421016_131421023dup, NC_000009.11:g.131421015_131421023dup, NC_000009.11:g.131421010_131421023dup, NC_000009.11:g.131421023_131421024insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.131421023_131421024insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034056.1:g.3117_3129del, NG_034056.1:g.3120_3129del, NG_034056.1:g.3123_3129del, NG_034056.1:g.3124_3129del, NG_034056.1:g.3125_3129del, NG_034056.1:g.3126_3129del, NG_034056.1:g.3127_3129del, NG_034056.1:g.3128_3129del, NG_034056.1:g.3129del, NG_034056.1:g.3129dup, NG_034056.1:g.3128_3129dup, NG_034056.1:g.3127_3129dup, NG_034056.1:g.3126_3129dup, NG_034056.1:g.3125_3129dup, NG_034056.1:g.3124_3129dup, NG_034056.1:g.3123_3129dup, NG_034056.1:g.3122_3129dup, NG_034056.1:g.3121_3129dup, NG_034056.1:g.3116_3129dup, NG_034056.1:g.3129_3130insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_034056.1:g.3129_3130insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149128763111.

rs1491287631 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:128652432 (GRCh38)
9:131414711 (GRCh37)
Canonical SPDI:: NC_000009.12:128652431:CA:
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00006/1 (TOMMO)
HGVS:: NC_000009.12:g.128652432_128652433del, NC_000009.11:g.131414711_131414712del, NG_034056.1:g.9418_9419del

Select item 149126176812.

rs1491261768 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATATTATATATATATATATATATAT,ATATTATATATATATATATATATAT,ATTATATATATATATATATATAT [Show Flanks]
Chromosome:: 9:128650527 (GRCh38)
9:131412807 (GRCh37)
Canonical SPDI:: NC_000009.12:128650527:TATATATATATATATATATAT:TATATATATATATATATATATATATATTATATATATATATATATATAT,NC_000009.12:128650527:TATATATATATATATATATAT:TATATATATATATATATATATATATTATATATATATATATATATAT,NC_000009.12:128650527:TATATATATATATATATATAT:TATATATATATATATATATATATTATATATATATATATATATAT
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATATATATTATATATATATATATATATAT=0./0 (ALFA)
TATATATATATATATATATATAT=0.01041/219 (GnomAD)
HGVS:: NC_000009.12:g.128650528_128650548TA[13]TTATATATATATATATATATAT[1], NC_000009.12:g.128650528_128650548TA[12]TTATATATATATATATATATAT[1], NC_000009.12:g.128650528_128650548TA[11]TTATATATATATATATATATAT[1], NC_000009.11:g.131412807_131412827TA[13]TTATATATATATATATATATAT[1], NC_000009.11:g.131412807_131412827TA[12]TTATATATATATATATATATAT[1], NC_000009.11:g.131412807_131412827TA[11]TTATATATATATATATATATAT[1], NG_034056.1:g.11303_11323ATATATATATATATATATATA[2]TA[3], NG_034056.1:g.11303_11323ATATATATATATATATATATA[2]TA[2], NG_034056.1:g.11303_11323ATATATATATATATATATATA[2]TA[1]

Select item 149125803413.

rs1491258034 has merged into rs10660438 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:128644283 (GRCh38)
9:131406562 (GRCh37)
Canonical SPDI:: NC_000009.12:128644275:TTTTTTTTTTTTT:TTTTTTT,NC_000009.12:128644275:TTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:128644275:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:128644275:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:128644275:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:128644275:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:128644275:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:128644275:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:128644275:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:128644275:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:128644275:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.0204/102 (1000Genomes)
HGVS:: NC_000009.12:g.128644283_128644288del, NC_000009.12:g.128644285_128644288del, NC_000009.12:g.128644286_128644288del, NC_000009.12:g.128644287_128644288del, NC_000009.12:g.128644288del, NC_000009.12:g.128644288dup, NC_000009.12:g.128644287_128644288dup, NC_000009.12:g.128644286_128644288dup, NC_000009.12:g.128644285_128644288dup, NC_000009.12:g.128644284_128644288dup, NC_000009.12:g.128644283_128644288dup, NC_000009.11:g.131406562_131406567del, NC_000009.11:g.131406564_131406567del, NC_000009.11:g.131406565_131406567del, NC_000009.11:g.131406566_131406567del, NC_000009.11:g.131406567del, NC_000009.11:g.131406567dup, NC_000009.11:g.131406566_131406567dup, NC_000009.11:g.131406565_131406567dup, NC_000009.11:g.131406564_131406567dup, NC_000009.11:g.131406563_131406567dup, NC_000009.11:g.131406562_131406567dup, NG_034056.1:g.17570_17575del, NG_034056.1:g.17572_17575del, NG_034056.1:g.17573_17575del, NG_034056.1:g.17574_17575del, NG_034056.1:g.17575del, NG_034056.1:g.17575dup, NG_034056.1:g.17574_17575dup, NG_034056.1:g.17573_17575dup, NG_034056.1:g.17572_17575dup, NG_034056.1:g.17571_17575dup, NG_034056.1:g.17570_17575dup

Select item 149121545814.

rs1491215458 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:128648799 (GRCh38)
9:131411078 (GRCh37)
Canonical SPDI:: NC_000009.12:128648798:CA:
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.128648799_128648800del, NC_000009.11:g.131411078_131411079del, NG_034056.1:g.13051_13052del

Select item 149108255915.

rs1491082559 has merged into rs71381783 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:128648643 (GRCh38)
9:131410922 (GRCh37)
Canonical SPDI:: NC_000009.12:128648631:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:128648631:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:128648631:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:128648631:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:128648631:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:128648631:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:128648631:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:128648631:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:128648631:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128648631:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128648631:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128648631:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128648631:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.128648643_128648650del, NC_000009.12:g.128648644_128648650del, NC_000009.12:g.128648645_128648650del, NC_000009.12:g.128648646_128648650del, NC_000009.12:g.128648648_128648650del, NC_000009.12:g.128648649_128648650del, NC_000009.12:g.128648650del, NC_000009.12:g.128648650dup, NC_000009.12:g.128648649_128648650dup, NC_000009.12:g.128648648_128648650dup, NC_000009.12:g.128648647_128648650dup, NC_000009.12:g.128648646_128648650dup, NC_000009.12:g.128648641_128648650dup, NC_000009.11:g.131410922_131410929del, NC_000009.11:g.131410923_131410929del, NC_000009.11:g.131410924_131410929del, NC_000009.11:g.131410925_131410929del, NC_000009.11:g.131410927_131410929del, NC_000009.11:g.131410928_131410929del, NC_000009.11:g.131410929del, NC_000009.11:g.131410929dup, NC_000009.11:g.131410928_131410929dup, NC_000009.11:g.131410927_131410929dup, NC_000009.11:g.131410926_131410929dup, NC_000009.11:g.131410925_131410929dup, NC_000009.11:g.131410920_131410929dup, NG_034056.1:g.13212_13219del, NG_034056.1:g.13213_13219del, NG_034056.1:g.13214_13219del, NG_034056.1:g.13215_13219del, NG_034056.1:g.13217_13219del, NG_034056.1:g.13218_13219del, NG_034056.1:g.13219del, NG_034056.1:g.13219dup, NG_034056.1:g.13218_13219dup, NG_034056.1:g.13217_13219dup, NG_034056.1:g.13216_13219dup, NG_034056.1:g.13215_13219dup, NG_034056.1:g.13210_13219dup

Select item 149104328116.

rs1491043281 has merged into rs56801175 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 9:128648808 (GRCh38)
9:131411087 (GRCh37)
Canonical SPDI:: NC_000009.12:128648799:AAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:128648799:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:128648799:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:128648799:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:128648799:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:128648799:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:128648799:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.3393/1699 (1000Genomes)
HGVS:: NC_000009.12:g.128648808_128648813del, NC_000009.12:g.128648812_128648813del, NC_000009.12:g.128648813del, NC_000009.12:g.128648813dup, NC_000009.12:g.128648812_128648813dup, NC_000009.12:g.128648811_128648813dup, NC_000009.12:g.128648810_128648813dup, NC_000009.11:g.131411087_131411092del, NC_000009.11:g.131411091_131411092del, NC_000009.11:g.131411092del, NC_000009.11:g.131411092dup, NC_000009.11:g.131411091_131411092dup, NC_000009.11:g.131411090_131411092dup, NC_000009.11:g.131411089_131411092dup, NG_034056.1:g.13046_13051del, NG_034056.1:g.13050_13051del, NG_034056.1:g.13051del, NG_034056.1:g.13051dup, NG_034056.1:g.13050_13051dup, NG_034056.1:g.13049_13051dup, NG_034056.1:g.13048_13051dup

Select item 149103429817.

rs1491034298 has merged into rs60929747 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 9:128645201 (GRCh38)
9:131407480 (GRCh37)
Canonical SPDI:: NC_000009.12:128645188:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:128645188:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:128645188:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:128645188:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:128645188:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.0353/136 (ALSPAC)
A=0.0383/142 (TWINSUK)
A=0.1119/66 (NorthernSweden)
A=0.2137/1070 (1000Genomes)
HGVS:: NC_000009.12:g.128645201_128645203del, NC_000009.12:g.128645202_128645203del, NC_000009.12:g.128645203del, NC_000009.12:g.128645203dup, NC_000009.12:g.128645202_128645203dup, NC_000009.11:g.131407480_131407482del, NC_000009.11:g.131407481_131407482del, NC_000009.11:g.131407482del, NC_000009.11:g.131407482dup, NC_000009.11:g.131407481_131407482dup, NG_034056.1:g.16660_16662del, NG_034056.1:g.16661_16662del, NG_034056.1:g.16662del, NG_034056.1:g.16662dup, NG_034056.1:g.16661_16662dup

Select item 149094579818.

rs1490945798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:128655779 (GRCh38)
9:131418058 (GRCh37)
Canonical SPDI:: NC_000009.12:128655778:C:A,NC_000009.12:128655778:C:T
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.128655779C>A, NC_000009.12:g.128655779C>T, NC_000009.11:g.131418058C>A, NC_000009.11:g.131418058C>T, NG_034056.1:g.6072G>T, NG_034056.1:g.6072G>A

Select item 149088935819.

rs1490889358 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:128652624 (GRCh38)
9:131414903 (GRCh37)
Canonical SPDI:: NC_000009.12:128652623:A:C
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000009.12:g.128652624A>C, NC_000009.11:g.131414903A>C, NG_034056.1:g.9227T>G

Select item 149062998620.

rs1490629986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:128635536 (GRCh38)
9:131397815 (GRCh37)
Canonical SPDI:: NC_000009.12:128635535:C:G
Gene:: DYNC2I2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.128635536C>G, NC_000009.11:g.131397815C>G, NG_027748.1:g.87979C>G, NG_034056.1:g.26315G>C

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