Links from Gene
Items: 1 to 20 of 65628
2.
rs1491534395 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 20:16529709
(GRCh38)
20:16510355
(GRCh37)
- Canonical SPDI:
- NC_000020.11:16529709:A:AA
- Gene:
- KIF16B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
3.
rs1491520882 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATACCT
[Show Flanks]
- Chromosome:
- 20:16566516
(GRCh38)
20:16547162
(GRCh37)
- Canonical SPDI:
- NC_000020.11:16566516:TATACCT:TATACCTATACCT
- Gene:
- KIF16B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATACCTATACCT=0./0
(
ALFA)
TATACC=0.000007/1
(GnomAD)
TATACC=0.000008/2
(TOPMED)
- HGVS:
4.
rs1491514946 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GTAGGTAC,GTAGGTACATATATATATGTAGGTAC,GTAGGTACATATATATATGTAGGTACATATATATATGTAGGTAC,GTTGGTAC
[Show Flanks]
- Chromosome:
- 20:16409980
(GRCh38)
20:16390626
(GRCh37)
- Canonical SPDI:
- NC_000020.11:16409980::GTAGGTAC,NC_000020.11:16409980::GTAGGTACATATATATATGTAGGTAC,NC_000020.11:16409980::GTAGGTACATATATATATGTAGGTACATATATATATGTAGGTAC,NC_000020.11:16409980::GTTGGTAC
- Gene:
- KIF16B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000020.11:g.16409980_16409981insGTAGGTAC, NC_000020.11:g.16409980_16409981insGTAGGTACATATATATATGTAGGTAC, NC_000020.11:g.16409980_16409981insGTAGGTACATATATATATGTAGGTACATATATATATGTAGGTAC, NC_000020.11:g.16409980_16409981insGTTGGTAC, NC_000020.10:g.16390625_16390626insGTAGGTAC, NC_000020.10:g.16390625_16390626insGTAGGTACATATATATATGTAGGTAC, NC_000020.10:g.16390625_16390626insGTAGGTACATATATATATGTAGGTACATATATATATGTAGGTAC, NC_000020.10:g.16390625_16390626insGTTGGTAC, NG_028043.2:g.168454_168455insGTACCTAC, NG_028043.2:g.168454_168455insGTACCTACATATATATATGTACCTAC, NG_028043.2:g.168454_168455insGTACCTACATATATATATGTACCTACATATATATATGTACCTAC, NG_028043.2:g.168454_168455insGTACCAAC
5.
rs1491506617 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 20:16549035
(GRCh38)
20:16529680
(GRCh37)
- Canonical SPDI:
- NC_000020.11:16549034:TC:
- Gene:
- KIF16B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000169/2
(
ALFA)
-=0.000016/2
(GnomAD)
-=0.000072/19
(TOPMED)
- HGVS:
6.
rs1491504885 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATGTGTGT
[Show Flanks]
- Chromosome:
- 20:16445420
(GRCh38)
20:16426066
(GRCh37)
- Canonical SPDI:
- NC_000020.11:16445420:TGTGTGT:TGTGTGTATGTGTGT
- Gene:
- KIF16B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTATGTGTGT=0.00084/10
(
ALFA)
TGTGTGTA=0.00828/214
(GnomAD)
- HGVS:
7.
rs1491504793 has merged into rs201313385 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCGC>-,GC,GCGCGC,GCGCGCGC
[Show Flanks]
- Chromosome:
- 20:16440531
(GRCh38)
20:16421176
(GRCh37)
- Canonical SPDI:
- NC_000020.11:16440526:GCGCGCGC:GCGC,NC_000020.11:16440526:GCGCGCGC:GCGCGC,NC_000020.11:16440526:GCGCGCGC:GCGCGCGCGC,NC_000020.11:16440526:GCGCGCGC:GCGCGCGCGCGC
- Gene:
- KIF16B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGCGCGCGCGC=0./0
(
ALFA)
-=0.00055/1
(Korea1K)
-=0.02815/141
(1000Genomes)
- HGVS:
NC_000020.11:g.16440527GC[2], NC_000020.11:g.16440527GC[3], NC_000020.11:g.16440527GC[5], NC_000020.11:g.16440527GC[6], NC_000020.10:g.16421172GC[2], NC_000020.10:g.16421172GC[3], NC_000020.10:g.16421172GC[5], NC_000020.10:g.16421172GC[6], NG_028043.2:g.137901GC[2], NG_028043.2:g.137901GC[3], NG_028043.2:g.137901GC[5], NG_028043.2:g.137901GC[6]
8.
rs1491502948 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 20:16359653
(GRCh38)
20:16340299
(GRCh37)
- Canonical SPDI:
- NC_000020.11:16359653:C:CC
- Gene:
- KIF16B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.00002/2
(GnomAD)
- HGVS:
10.
rs1491495169 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATA
[Show Flanks]
- Chromosome:
- 20:16442420
(GRCh38)
20:16423066
(GRCh37)
- Canonical SPDI:
- NC_000020.11:16442420:ATA:ATACATA
- Gene:
- KIF16B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATACATA=0./0
(
ALFA)
ATAC=0.000004/1
(TOPMED)
ATAC=0.000014/1
(GnomAD)
- HGVS:
11.
rs1491445028 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 20:16396649
(GRCh38)
20:16377295
(GRCh37)
- Canonical SPDI:
- NC_000020.11:16396649:T:TCT
- Gene:
- KIF16B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0.00126/15
(
ALFA)
TC=0.00241/35
(TOMMO)
TC=0.00367/263
(GnomAD)
- HGVS:
12.
rs1491440809 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TGTGCA,TGTGTGCA,TGTGTGTGCA,TGTGTGTGTGTGTGCA
[Show Flanks]
- Chromosome:
- 20:16280868
(GRCh38)
20:16261514
(GRCh37)
- Canonical SPDI:
- NC_000020.11:16280868::TGTGCA,NC_000020.11:16280868::TGTGTGCA,NC_000020.11:16280868::TGTGTGTGCA,NC_000020.11:16280868::TGTGTGTGTGTGTGCA
- Gene:
- KIF16B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGCA=0.00059/9
(
ALFA)
- HGVS:
NC_000020.11:g.16280868_16280869insTGTGCA, NC_000020.11:g.16280868_16280869insTGTGTGCA, NC_000020.11:g.16280868_16280869insTGTGTGTGCA, NC_000020.11:g.16280868_16280869insTGTGTGTGTGTGTGCA, NC_000020.10:g.16261513_16261514insTGTGCA, NC_000020.10:g.16261513_16261514insTGTGTGCA, NC_000020.10:g.16261513_16261514insTGTGTGTGCA, NC_000020.10:g.16261513_16261514insTGTGTGTGTGTGTGCA, NG_028043.2:g.297566_297567insTGCACA, NG_028043.2:g.297566_297567insTGCACACA, NG_028043.2:g.297566_297567insTGCACACACA, NG_028043.2:g.297566_297567insTGCACACACACACACA
13.
rs1491420170 has merged into rs540602451 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:16514593
(GRCh38)
20:16495238
(GRCh37)
- Canonical SPDI:
- NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KIF16B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
- HGVS:
NC_000020.11:g.16514593_16514606del, NC_000020.11:g.16514594_16514606del, NC_000020.11:g.16514595_16514606del, NC_000020.11:g.16514596_16514606del, NC_000020.11:g.16514597_16514606del, NC_000020.11:g.16514598_16514606del, NC_000020.11:g.16514599_16514606del, NC_000020.11:g.16514600_16514606del, NC_000020.11:g.16514601_16514606del, NC_000020.11:g.16514602_16514606del, NC_000020.11:g.16514603_16514606del, NC_000020.11:g.16514604_16514606del, NC_000020.11:g.16514605_16514606del, NC_000020.11:g.16514606del, NC_000020.11:g.16514606dup, NC_000020.11:g.16514605_16514606dup, NC_000020.11:g.16514604_16514606dup, NC_000020.11:g.16514603_16514606dup, NC_000020.11:g.16514602_16514606dup, NC_000020.11:g.16514601_16514606dup, NC_000020.11:g.16514600_16514606dup, NC_000020.11:g.16514599_16514606dup, NC_000020.11:g.16514598_16514606dup, NC_000020.11:g.16514597_16514606dup, NC_000020.11:g.16514596_16514606dup, NC_000020.11:g.16514594_16514606dup, NC_000020.11:g.16514593_16514606dup, NC_000020.11:g.16514589_16514606dup, NC_000020.11:g.16514606_16514607insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.16495238_16495251del, NC_000020.10:g.16495239_16495251del, NC_000020.10:g.16495240_16495251del, NC_000020.10:g.16495241_16495251del, NC_000020.10:g.16495242_16495251del, NC_000020.10:g.16495243_16495251del, NC_000020.10:g.16495244_16495251del, NC_000020.10:g.16495245_16495251del, NC_000020.10:g.16495246_16495251del, NC_000020.10:g.16495247_16495251del, NC_000020.10:g.16495248_16495251del, NC_000020.10:g.16495249_16495251del, NC_000020.10:g.16495250_16495251del, NC_000020.10:g.16495251del, NC_000020.10:g.16495251dup, NC_000020.10:g.16495250_16495251dup, NC_000020.10:g.16495249_16495251dup, NC_000020.10:g.16495248_16495251dup, NC_000020.10:g.16495247_16495251dup, NC_000020.10:g.16495246_16495251dup, NC_000020.10:g.16495245_16495251dup, NC_000020.10:g.16495244_16495251dup, NC_000020.10:g.16495243_16495251dup, NC_000020.10:g.16495242_16495251dup, NC_000020.10:g.16495241_16495251dup, NC_000020.10:g.16495239_16495251dup, NC_000020.10:g.16495238_16495251dup, NC_000020.10:g.16495234_16495251dup, NC_000020.10:g.16495251_16495252insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_028043.2:g.63839_63852del, NG_028043.2:g.63840_63852del, NG_028043.2:g.63841_63852del, NG_028043.2:g.63842_63852del, NG_028043.2:g.63843_63852del, NG_028043.2:g.63844_63852del, NG_028043.2:g.63845_63852del, NG_028043.2:g.63846_63852del, NG_028043.2:g.63847_63852del, NG_028043.2:g.63848_63852del, NG_028043.2:g.63849_63852del, NG_028043.2:g.63850_63852del, NG_028043.2:g.63851_63852del, NG_028043.2:g.63852del, NG_028043.2:g.63852dup, NG_028043.2:g.63851_63852dup, NG_028043.2:g.63850_63852dup, NG_028043.2:g.63849_63852dup, NG_028043.2:g.63848_63852dup, NG_028043.2:g.63847_63852dup, NG_028043.2:g.63846_63852dup, NG_028043.2:g.63845_63852dup, NG_028043.2:g.63844_63852dup, NG_028043.2:g.63843_63852dup, NG_028043.2:g.63842_63852dup, NG_028043.2:g.63840_63852dup, NG_028043.2:g.63839_63852dup, NG_028043.2:g.63835_63852dup, NG_028043.2:g.63852_63853insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
14.
rs1491411894 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 20:16559790
(GRCh38)
20:16540436
(GRCh37)
- Canonical SPDI:
- NC_000020.11:16559790::T
- Gene:
- KIF16B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1491410556 has merged into rs1273160068 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATAC>-,ATATATATATATACATATATATATATAC
[Show Flanks]
- Chromosome:
- 20:16431877
(GRCh38)
20:16412522
(GRCh37)
- Canonical SPDI:
- NC_000020.11:16431862:ATATATATATATACATATATATATATAC:ATATATATATATAC,NC_000020.11:16431862:ATATATATATATACATATATATATATAC:ATATATATATATACATATATATATATACATATATATATATAC
- Gene:
- KIF16B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATACATATATATATATACATATATATATATAC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
16.
rs1491385684 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 20:16480809
(GRCh38)
20:16461454
(GRCh37)
- Canonical SPDI:
- NC_000020.11:16480808:GT:
- Gene:
- KIF16B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
18.
rs1491317775 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 20:16529709
(GRCh38)
20:16510354
(GRCh37)
- Canonical SPDI:
- NC_000020.11:16529708:CA:
- Gene:
- KIF16B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000224/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS: