Links from Gene
Items: 1 to 20 of 14733
1.
rs1491549178 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:20716260
(GRCh38)
1:21042754
(GRCh37)
- Canonical SPDI:
- NC_000001.11:20716260::C
- Gene:
- KIF17 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000029/4
(GnomAD)
- HGVS:
3.
rs1491514138 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 1:20706900
(GRCh38)
1:21033393
(GRCh37)
- Canonical SPDI:
- NC_000001.11:20706898:AGA:A
- Gene:
- KIF17 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
-=0.00003/8
(TOPMED)
-=0.000036/5
(GnomAD)
-=0.001311/37
(TOMMO)
- HGVS:
6.
rs1491488284 has merged into rs1191328810 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATA>-,TATA,TATATATA,TATATATAGATATATATAGATATATATATA,TATATATATA
[Show Flanks]
- Chromosome:
- 1:20712565
(GRCh38)
1:21039058
(GRCh37)
- Canonical SPDI:
- NC_000001.11:20712560:TATATATATA:TATA,NC_000001.11:20712560:TATATATATA:TATATATA,NC_000001.11:20712560:TATATATATA:TATATATATATA,NC_000001.11:20712560:TATATATATA:TATATATATATAGATATATATAGATATATATATA,NC_000001.11:20712560:TATATATATA:TATATATATATATA
- Gene:
- KIF17 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATA=0./0
(
ALFA)
-=0.00002/1
(GnomAD)
TATATATATATAGATATATATAGA=0.00004/1
(TOMMO)
- HGVS:
7.
rs1491479128 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 1:20669558
(GRCh38)
1:20996051
(GRCh37)
- Canonical SPDI:
- NC_000001.11:20669556:ATA:A
- Gene:
- KIF17 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00004/1
(TOMMO)
- HGVS:
8.
rs1491469351 has merged into rs1156951272 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATA>-,TATA,TATATATA,TATATATATA
[Show Flanks]
- Chromosome:
- 1:20712635
(GRCh38)
1:21039128
(GRCh37)
- Canonical SPDI:
- NC_000001.11:20712630:TATATATATA:TATA,NC_000001.11:20712630:TATATATATA:TATATATA,NC_000001.11:20712630:TATATATATA:TATATATATATA,NC_000001.11:20712630:TATATATATA:TATATATATATATA
- Gene:
- KIF17 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATA=0./0
(
ALFA)
-=0.00187/3
(Korea1K)
-=0.00677/108
(TOMMO)
- HGVS:
11.
rs1491397400 has merged into rs35124380 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-,ACAC,ACACAC,ACACACAC,ACACGCACACACACAC
[Show Flanks]
- Chromosome:
- 1:20695136
(GRCh38)
1:21021629
(GRCh37)
- Canonical SPDI:
- NC_000001.11:20695128:CACACACAC:CACACAC,NC_000001.11:20695128:CACACACAC:CACACACACAC,NC_000001.11:20695128:CACACACAC:CACACACACACAC,NC_000001.11:20695128:CACACACAC:CACACACACACACAC,NC_000001.11:20695128:CACACACAC:CACACACACACGCACACACACAC
- Gene:
- KIF17 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACAC=0./0
(
ALFA)
CA=0.19697/117
(NorthernSweden)
CA=0.20467/1025
(1000Genomes)
CA=0.43068/789
(Korea1K)
CA=0.45545/92
(Vietnamese)
- HGVS:
12.
rs1491393899 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAAT
[Show Flanks]
- Chromosome:
- 1:20669557
(GRCh38)
1:20996051
(GRCh37)
- Canonical SPDI:
- NC_000001.11:20669557:TAAT:TAATTAAT
- Gene:
- KIF17 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAATTAAT=0./0
(
ALFA)
TAAT=0.000008/1
(GnomAD)
TAAT=0.000008/2
(TOPMED)
- HGVS:
14.
rs1491378267 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:20665219
(GRCh38)
1:20991712
(GRCh37)
- Canonical SPDI:
- NC_000001.11:20665216:CTCT:CT
- Gene:
- KIF17 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CTCT=0./0
(
ALFA)
-=0.00005/3
(GnomAD)
- HGVS:
15.
rs1491367385 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-,GCGC
[Show Flanks]
- Chromosome:
- 1:20695138
(GRCh38)
1:21021631
(GRCh37)
- Canonical SPDI:
- NC_000001.11:20695136:CGC:C,NC_000001.11:20695136:CGC:CGCGC
- Gene:
- KIF17 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000124/2
(
ALFA)
-=0.000309/42
(GnomAD)
-=0.00092/15
(TOMMO)
-=0.012009/22
(Korea1K)
-=0.039644/147
(TWINSUK)
-=0.047743/184
(ALSPAC)
- HGVS:
18.
rs1491276134 has merged into rs71585780 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:20716252
(GRCh38)
1:21042745
(GRCh37)
- Canonical SPDI:
- NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:20716241:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KIF17 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.20716252_20716261del, NC_000001.11:g.20716253_20716261del, NC_000001.11:g.20716256_20716261del, NC_000001.11:g.20716257_20716261del, NC_000001.11:g.20716259_20716261del, NC_000001.11:g.20716260_20716261del, NC_000001.11:g.20716261del, NC_000001.11:g.20716261dup, NC_000001.11:g.20716260_20716261dup, NC_000001.11:g.20716259_20716261dup, NC_000001.11:g.20716258_20716261dup, NC_000001.11:g.20716257_20716261dup, NC_000001.11:g.20716256_20716261dup, NC_000001.11:g.20716253_20716261dup, NC_000001.10:g.21042745_21042754del, NC_000001.10:g.21042746_21042754del, NC_000001.10:g.21042749_21042754del, NC_000001.10:g.21042750_21042754del, NC_000001.10:g.21042752_21042754del, NC_000001.10:g.21042753_21042754del, NC_000001.10:g.21042754del, NC_000001.10:g.21042754dup, NC_000001.10:g.21042753_21042754dup, NC_000001.10:g.21042752_21042754dup, NC_000001.10:g.21042751_21042754dup, NC_000001.10:g.21042750_21042754dup, NC_000001.10:g.21042749_21042754dup, NC_000001.10:g.21042746_21042754dup
19.
rs1491267376 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATATATATAGATAATATTATCTATATA
[Show Flanks]
- Chromosome:
- 1:20712561
(GRCh38)
1:21039055
(GRCh37)
- Canonical SPDI:
- NC_000001.11:20712561:ATATATATAGATAATATTATCTATATA:ATATATATAGATAATATTATCTATATAATATATATAGATAATATTATCTATATA
- Gene:
- KIF17 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ATATATATAGATAATATTATCTATATAATATATATAGATAATATTATCTATATA=0./0
(
ALFA)
ATATATATAGATAATATTATCTATATA=0.00078/43
(GnomAD)
- HGVS:
20.
rs1491257356 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GATGGATG>-,GATG,GATGGATGGATG,GATGGATGGATGGATG,GATGGATGGATGGATGGATG,GATGGATGGATGGATGGATGGATG,GATGGATGGATGGATGGATGGATGGATG,GATGGATGGATGGATGGATGGATGGATGGATGGATGGATG
[Show Flanks]
- Chromosome:
- 1:20703491
(GRCh38)
1:21029984
(GRCh37)
- Canonical SPDI:
- NC_000001.11:20703486:GATGGATGGATG:GATG,NC_000001.11:20703486:GATGGATGGATG:GATGGATG,NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATG,NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATG,NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATG,NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATGGATG,NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATGGATGGATG,NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG
- Gene:
- KIF17 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GATGGATGGATGGATG=0./0
(
ALFA)
GATGGATGGATG=0.000004/1
(TOPMED)
GATG=0.000611/10
(TOMMO)
GATG=0.002738/5
(Korea1K)
- HGVS:
NC_000001.11:g.20703487GATG[1], NC_000001.11:g.20703487GATG[2], NC_000001.11:g.20703487GATG[4], NC_000001.11:g.20703487GATG[5], NC_000001.11:g.20703487GATG[6], NC_000001.11:g.20703487GATG[7], NC_000001.11:g.20703487GATG[8], NC_000001.11:g.20703487GATG[11], NC_000001.10:g.21029980GATG[1], NC_000001.10:g.21029980GATG[2], NC_000001.10:g.21029980GATG[4], NC_000001.10:g.21029980GATG[5], NC_000001.10:g.21029980GATG[6], NC_000001.10:g.21029980GATG[7], NC_000001.10:g.21029980GATG[8], NC_000001.10:g.21029980GATG[11]