SNP Links for Gene (Select 9381) - SNP

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Select item 14915669731.

rs1491566973 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:26494656 (GRCh38)
2:26717524 (GRCh37)
Canonical SPDI:: NC_000002.12:26494654:GTG:G
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.26494656_26494657del, NC_000002.11:g.26717524_26717525del, NG_009937.1:g.69043_69044del

Select item 14915474822.

rs1491547482 has merged into rs35627471 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTGTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:26546762 (GRCh38)
2:26769630 (GRCh37)
Canonical SPDI:: NC_000002.12:26546748:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:26546748:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:26546748:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:26546748:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:26546748:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:26546748:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:26546748:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26546748:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26546748:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT,NC_000002.12:26546748:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT,NC_000002.12:26546748:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTT
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3115/1560 (1000Genomes)
-=0.5/20 (GENOME_DK)
HGVS:: NC_000002.12:g.26546762_26546763del, NC_000002.12:g.26546763del, NC_000002.12:g.26546763dup, NC_000002.12:g.26546762_26546763dup, NC_000002.12:g.26546761_26546763dup, NC_000002.12:g.26546759_26546763dup, NC_000002.12:g.26546755_26546763dup, NC_000002.12:g.26546754_26546763dup, NC_000002.12:g.26546749_26546763T[25]GTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.26546749_26546763T[35]GTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.26546749_26546763T[50]GTTTTTTTTTTTTTTTT[1], NC_000002.11:g.26769630_26769631del, NC_000002.11:g.26769631del, NC_000002.11:g.26769631dup, NC_000002.11:g.26769630_26769631dup, NC_000002.11:g.26769629_26769631dup, NC_000002.11:g.26769627_26769631dup, NC_000002.11:g.26769623_26769631dup, NC_000002.11:g.26769622_26769631dup, NC_000002.11:g.26769617_26769631T[25]GTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.26769617_26769631T[35]GTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.26769617_26769631T[50]GTTTTTTTTTTTTTTTT[1], NG_009937.1:g.16949_16950del, NG_009937.1:g.16950del, NG_009937.1:g.16950dup, NG_009937.1:g.16949_16950dup, NG_009937.1:g.16948_16950dup, NG_009937.1:g.16946_16950dup, NG_009937.1:g.16942_16950dup, NG_009937.1:g.16941_16950dup, NG_009937.1:g.16936_16950A[17]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_009937.1:g.16936_16950A[17]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_009937.1:g.16936_16950A[16]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14914493643.

rs1491449364 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:26494655 (GRCh38)
2:26717524 (GRCh37)
Canonical SPDI:: NC_000002.12:26494655:T:TT
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.00024/1 (Estonian)
T=0.00031/2 (1000Genomes)
T=0.00092/85 (GnomAD)
HGVS:: NC_000002.12:g.26494656dup, NC_000002.11:g.26717524dup, NG_009937.1:g.69043dup

Select item 14914343304.

rs1491434330 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTGTATTCGTGGGTGCACGTGTG [Show Flanks]
Chromosome:: 2:26483090 (GRCh38)
2:26705959 (GRCh37)
Canonical SPDI:: NC_000002.12:26483090:GTGTGTGTGTATTCGTGGGTGCACGTGTG:GTGTGTGTGTATTCGTGGGTGCACGTGTGTGTGTATTCGTGGGTGCACGTGTG
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTATTCGTGGGTGCACGTGTGTGTGTATTCGTGGGTGCACGTGTG=0./0 (ALFA)
GTGTGTGTGTATTCGTGGGTGCAC=0.000097/13 (GnomAD)
GTGTGTGTGTATTCGTGGGTGCAC=0.011667/7 (NorthernSweden)
HGVS:: NC_000002.12:g.26483096_26483119dup, NC_000002.11:g.26705964_26705987dup, NG_009937.1:g.80585_80608dup

Select item 14914141295.

rs1491414129 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:26546749 (GRCh38)
2:26769618 (GRCh37)
Canonical SPDI:: NC_000002.12:26546749::G
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000022/1 (GnomAD)
HGVS:: NC_000002.12:g.26546749_26546750insG, NC_000002.11:g.26769617_26769618insG, NG_009937.1:g.16949_16950insC

Select item 14913697036.

rs1491369703 has merged into rs1412143062 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT [Show Flanks]
Chromosome:: 2:26482805 (GRCh38)
2:26705673 (GRCh37)
Canonical SPDI:: NC_000002.12:26482799:TGTGTGTGT:TGTGT,NC_000002.12:26482799:TGTGTGTGT:TGTGTGT,NC_000002.12:26482799:TGTGTGTGT:TGTGTGTGTGT
Gene:: OTOF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00007/4 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000002.12:g.26482801GT[2], NC_000002.12:g.26482801GT[3], NC_000002.12:g.26482801GT[5], NC_000002.11:g.26705669GT[2], NC_000002.11:g.26705669GT[3], NC_000002.11:g.26705669GT[5], NG_009937.1:g.80892CA[2], NG_009937.1:g.80892CA[3], NG_009937.1:g.80892CA[5]

Select item 14913511977.

rs1491351197 has merged into rs10550936 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA [Show Flanks]
Chromosome:: 2:26505426 (GRCh38)
2:26728294 (GRCh37)
Canonical SPDI:: NC_000002.12:26505412:ACACACACACACACACACACACA:ACACACACACACA,NC_000002.12:26505412:ACACACACACACACACACACACA:ACACACACACACACA,NC_000002.12:26505412:ACACACACACACACACACACACA:ACACACACACACACACA,NC_000002.12:26505412:ACACACACACACACACACACACA:ACACACACACACACACACA,NC_000002.12:26505412:ACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000002.12:26505412:ACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000002.12:26505412:ACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000002.12:26505412:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000002.12:26505412:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000002.12:26505412:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.3333/1669 (1000Genomes)
HGVS:: NC_000002.12:g.26505414CA[6], NC_000002.12:g.26505414CA[7], NC_000002.12:g.26505414CA[8], NC_000002.12:g.26505414CA[9], NC_000002.12:g.26505414CA[10], NC_000002.12:g.26505414CA[12], NC_000002.12:g.26505414CA[13], NC_000002.12:g.26505414CA[14], NC_000002.12:g.26505414CA[15], NC_000002.12:g.26505414CA[16], NC_000002.11:g.26728282CA[6], NC_000002.11:g.26728282CA[7], NC_000002.11:g.26728282CA[8], NC_000002.11:g.26728282CA[9], NC_000002.11:g.26728282CA[10], NC_000002.11:g.26728282CA[12], NC_000002.11:g.26728282CA[13], NC_000002.11:g.26728282CA[14], NC_000002.11:g.26728282CA[15], NC_000002.11:g.26728282CA[16], NG_009937.1:g.58265GT[6], NG_009937.1:g.58265GT[7], NG_009937.1:g.58265GT[8], NG_009937.1:g.58265GT[9], NG_009937.1:g.58265GT[10], NG_009937.1:g.58265GT[12], NG_009937.1:g.58265GT[13], NG_009937.1:g.58265GT[14], NG_009937.1:g.58265GT[15], NG_009937.1:g.58265GT[16]

Select item 14912879918.

rs1491287991 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:26482647 (GRCh38)
2:26705515 (GRCh37)
Canonical SPDI:: NC_000002.12:26482646:AT:
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00005/7 (GnomAD)
-=0.000106/3 (TOMMO)
HGVS:: NC_000002.12:g.26482647_26482648del, NC_000002.11:g.26705515_26705516del, NG_009937.1:g.81051_81052del

Select item 14912808629.

rs1491280862 has merged into rs767807268 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT [Show Flanks]
Chromosome:: 2:26483097 (GRCh38)
2:26705965 (GRCh37)
Canonical SPDI:: NC_000002.12:26483089:TGTGTGTGTGT:TGTGTGT,NC_000002.12:26483089:TGTGTGTGTGT:TGTGTGTGT,NC_000002.12:26483089:TGTGTGTGTGT:TGTGTGTGTGTGT
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGT=0./0 (ALFA)
-=0.000071/1 (TOMMO)
-=0.000546/1 (Korea1K)
-=0.000698/74 (GnomAD)
-=0.001888/7 (TWINSUK)
-=0.002595/10 (ALSPAC)
HGVS:: NC_000002.12:g.26483091GT[3], NC_000002.12:g.26483091GT[4], NC_000002.12:g.26483091GT[6], NC_000002.11:g.26705959GT[3], NC_000002.11:g.26705959GT[4], NC_000002.11:g.26705959GT[6], NG_009937.1:g.80600CA[3], NG_009937.1:g.80600CA[4], NG_009937.1:g.80600CA[6]

Select item 149127261810.

rs1491272618 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 2:26472259 (GRCh38)
2:26695127 (GRCh37)
Canonical SPDI:: NC_000002.12:26472258:GC:
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.26472259_26472260del, NC_000002.11:g.26695127_26695128del, NG_009937.1:g.91439_91440del

Select item 149122284111.

rs1491222841 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:26483088 (GRCh38)
2:26705956 (GRCh37)
Canonical SPDI:: NC_000002.12:26483087:CA:
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.26483088_26483089del, NC_000002.11:g.26705956_26705957del, NG_009937.1:g.80610_80611del

Select item 149120992012.

rs1491209920 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 2:26483088 (GRCh38)
2:26705957 (GRCh37)
Canonical SPDI:: NC_000002.12:26483088:AT:ATAT
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
AT=0.000063/8 (GnomAD)
HGVS:: NC_000002.12:g.26483089_26483090dup, NC_000002.11:g.26705957_26705958dup, NG_009937.1:g.80609_80610dup

Select item 149118307813.

rs1491183078 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:26482799 (GRCh38)
2:26705667 (GRCh37)
Canonical SPDI:: NC_000002.12:26482798:AT:
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/3 (GnomAD)
HGVS:: NC_000002.12:g.26482799_26482800del, NC_000002.11:g.26705667_26705668del, NG_009937.1:g.80899_80900del

Select item 149116338814.

rs1491163388 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:26532092 (GRCh38)
2:26754960 (GRCh37)
Canonical SPDI:: NC_000002.12:26532091:CA:
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00006/1 (TOMMO)
HGVS:: NC_000002.12:g.26532092_26532093del, NC_000002.11:g.26754960_26754961del, NG_009937.1:g.31606_31607del

Select item 149113382415.

rs1491133824 has merged into rs34418795 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:26515414 (GRCh38)
2:26738282 (GRCh37)
Canonical SPDI:: NC_000002.12:26515402:TGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000002.12:26515402:TGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000002.12:26515402:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000002.12:26515402:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:26515402:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000002.12:26515402:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:26515402:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TGTGTGTG=0.000015/4 (TOPMED)
TG=0.227046/1137 (1000Genomes)
TG=0.327655/327 (GoNL)
TG=0.341667/205 (NorthernSweden)
TG=0.382314/1712 (Estonian)
HGVS:: NC_000002.12:g.26515404GT[5], NC_000002.12:g.26515404GT[6], NC_000002.12:g.26515404GT[8], NC_000002.12:g.26515404GT[9], NC_000002.12:g.26515404GT[10], NC_000002.12:g.26515404GT[11], NC_000002.12:g.26515404GT[13], NC_000002.11:g.26738272GT[5], NC_000002.11:g.26738272GT[6], NC_000002.11:g.26738272GT[8], NC_000002.11:g.26738272GT[9], NC_000002.11:g.26738272GT[10], NC_000002.11:g.26738272GT[11], NC_000002.11:g.26738272GT[13], NG_009937.1:g.48283CA[5], NG_009937.1:g.48283CA[6], NG_009937.1:g.48283CA[8], NG_009937.1:g.48283CA[9], NG_009937.1:g.48283CA[10], NG_009937.1:g.48283CA[11], NG_009937.1:g.48283CA[13]

Select item 149111959116.

rs1491119591 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:26459552 (GRCh38)
2:26682420 (GRCh37)
Canonical SPDI:: NC_000002.12:26459551:CA:
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000002.12:g.26459552_26459553del, NC_000002.11:g.26682420_26682421del, NG_009937.1:g.104146_104147del

Select item 149108248817.

rs1491082488 has merged into rs70950198 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 2:26552104 (GRCh38)
2:26774972 (GRCh37)
Canonical SPDI:: NC_000002.12:26552091:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:26552091:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:26552091:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:26552091:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:26552091:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:26552091:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:26552091:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:26552091:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:26552091:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26552091:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.2899/1452 (1000Genomes)
HGVS:: NC_000002.12:g.26552104_26552107del, NC_000002.12:g.26552105_26552107del, NC_000002.12:g.26552106_26552107del, NC_000002.12:g.26552107del, NC_000002.12:g.26552107dup, NC_000002.12:g.26552106_26552107dup, NC_000002.12:g.26552105_26552107dup, NC_000002.12:g.26552104_26552107dup, NC_000002.12:g.26552103_26552107dup, NC_000002.12:g.26552102_26552107dup, NC_000002.11:g.26774972_26774975del, NC_000002.11:g.26774973_26774975del, NC_000002.11:g.26774974_26774975del, NC_000002.11:g.26774975del, NC_000002.11:g.26774975dup, NC_000002.11:g.26774974_26774975dup, NC_000002.11:g.26774973_26774975dup, NC_000002.11:g.26774972_26774975dup, NC_000002.11:g.26774971_26774975dup, NC_000002.11:g.26774970_26774975dup, NG_009937.1:g.11604_11607del, NG_009937.1:g.11605_11607del, NG_009937.1:g.11606_11607del, NG_009937.1:g.11607del, NG_009937.1:g.11607dup, NG_009937.1:g.11606_11607dup, NG_009937.1:g.11605_11607dup, NG_009937.1:g.11604_11607dup, NG_009937.1:g.11603_11607dup, NG_009937.1:g.11602_11607dup

Select item 149108219818.

rs1491082198 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:26505436 (GRCh38)
2:26728304 (GRCh37)
Canonical SPDI:: NC_000002.12:26505434:AGA:A
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.26505436_26505437del, NC_000002.11:g.26728304_26728305del, NG_009937.1:g.58263_58264del

Select item 149105572619.

rs1491055726 has merged into rs34196608 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:26554176 (GRCh38)
2:26777044 (GRCh37)
Canonical SPDI:: NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26554165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.26554176_26554188del, NC_000002.12:g.26554177_26554188del, NC_000002.12:g.26554178_26554188del, NC_000002.12:g.26554179_26554188del, NC_000002.12:g.26554180_26554188del, NC_000002.12:g.26554181_26554188del, NC_000002.12:g.26554182_26554188del, NC_000002.12:g.26554183_26554188del, NC_000002.12:g.26554184_26554188del, NC_000002.12:g.26554186_26554188del, NC_000002.12:g.26554187_26554188del, NC_000002.12:g.26554188del, NC_000002.12:g.26554188dup, NC_000002.12:g.26554187_26554188dup, NC_000002.12:g.26554186_26554188dup, NC_000002.12:g.26554185_26554188dup, NC_000002.12:g.26554184_26554188dup, NC_000002.12:g.26554183_26554188dup, NC_000002.12:g.26554182_26554188dup, NC_000002.12:g.26554181_26554188dup, NC_000002.12:g.26554177_26554188dup, NC_000002.12:g.26554167_26554188dup, NC_000002.11:g.26777044_26777056del, NC_000002.11:g.26777045_26777056del, NC_000002.11:g.26777046_26777056del, NC_000002.11:g.26777047_26777056del, NC_000002.11:g.26777048_26777056del, NC_000002.11:g.26777049_26777056del, NC_000002.11:g.26777050_26777056del, NC_000002.11:g.26777051_26777056del, NC_000002.11:g.26777052_26777056del, NC_000002.11:g.26777054_26777056del, NC_000002.11:g.26777055_26777056del, NC_000002.11:g.26777056del, NC_000002.11:g.26777056dup, NC_000002.11:g.26777055_26777056dup, NC_000002.11:g.26777054_26777056dup, NC_000002.11:g.26777053_26777056dup, NC_000002.11:g.26777052_26777056dup, NC_000002.11:g.26777051_26777056dup, NC_000002.11:g.26777050_26777056dup, NC_000002.11:g.26777049_26777056dup, NC_000002.11:g.26777045_26777056dup, NC_000002.11:g.26777035_26777056dup, NG_009937.1:g.9521_9533del, NG_009937.1:g.9522_9533del, NG_009937.1:g.9523_9533del, NG_009937.1:g.9524_9533del, NG_009937.1:g.9525_9533del, NG_009937.1:g.9526_9533del, NG_009937.1:g.9527_9533del, NG_009937.1:g.9528_9533del, NG_009937.1:g.9529_9533del, NG_009937.1:g.9531_9533del, NG_009937.1:g.9532_9533del, NG_009937.1:g.9533del, NG_009937.1:g.9533dup, NG_009937.1:g.9532_9533dup, NG_009937.1:g.9531_9533dup, NG_009937.1:g.9530_9533dup, NG_009937.1:g.9529_9533dup, NG_009937.1:g.9528_9533dup, NG_009937.1:g.9527_9533dup, NG_009937.1:g.9526_9533dup, NG_009937.1:g.9522_9533dup, NG_009937.1:g.9512_9533dup

Select item 149102142120.

rs1491021421 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTGTGTGAGTGGGTGC [Show Flanks]
Chromosome:: 2:26482628 (GRCh38)
2:26705497 (GRCh37)
Canonical SPDI:: NC_000002.12:26482628:GTGTGTGTGAGTGGGTGC:GTGTGTGTGAGTGGGTGCGTGTGTGTGAGTGGGTGC
Gene:: OTOF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGTGTGTGAGTGGGTGCGTGTGTGTGAGTGGGTGC=0./0 (ALFA)
GTGTGTGTGAGTGGGTGC=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.26482629_26482646dup, NC_000002.11:g.26705497_26705514dup, NG_009937.1:g.81053_81070dup

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