Links from Gene
Items: 1 to 20 of 2085
1.
rs1491513099 has merged into rs533115992 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:57811929
(GRCh38)
16:57845841
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KIFC3 (Varview), LOC388282 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AA=0.1587/795
(1000Genomes)
- HGVS:
NC_000016.10:g.57811929_57811936del, NC_000016.10:g.57811930_57811936del, NC_000016.10:g.57811931_57811936del, NC_000016.10:g.57811932_57811936del, NC_000016.10:g.57811933_57811936del, NC_000016.10:g.57811934_57811936del, NC_000016.10:g.57811935_57811936del, NC_000016.10:g.57811936del, NC_000016.10:g.57811936dup, NC_000016.10:g.57811935_57811936dup, NC_000016.10:g.57811934_57811936dup, NC_000016.10:g.57811930_57811936dup, NC_000016.9:g.57845841_57845848del, NC_000016.9:g.57845842_57845848del, NC_000016.9:g.57845843_57845848del, NC_000016.9:g.57845844_57845848del, NC_000016.9:g.57845845_57845848del, NC_000016.9:g.57845846_57845848del, NC_000016.9:g.57845847_57845848del, NC_000016.9:g.57845848del, NC_000016.9:g.57845848dup, NC_000016.9:g.57845847_57845848dup, NC_000016.9:g.57845846_57845848dup, NC_000016.9:g.57845842_57845848dup, NW_003871085.1:g.71820_71827del, NW_003871085.1:g.71821_71827del, NW_003871085.1:g.71822_71827del, NW_003871085.1:g.71823_71827del, NW_003871085.1:g.71824_71827del, NW_003871085.1:g.71825_71827del, NW_003871085.1:g.71826_71827del, NW_003871085.1:g.71827del, NW_003871085.1:g.71827dup, NW_003871085.1:g.71826_71827dup, NW_003871085.1:g.71825_71827dup, NW_003871085.1:g.71821_71827dup
2.
rs1491385011 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 16:57811918
(GRCh38)
16:57845830
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57811917:CA:
- Gene:
- KIFC3 (Varview), LOC388282 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.05985/710
(
ALFA)
-=0.00092/15
(TOMMO)
- HGVS:
3.
rs1491136028 has merged into rs374744837 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAG>-,AG,AGAGAG
[Show Flanks]
- Chromosome:
- 16:57808593
(GRCh38)
16:57842505
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57808586:AGAGAGAGAG:AGAGAG,NC_000016.10:57808586:AGAGAGAGAG:AGAGAGAG,NC_000016.10:57808586:AGAGAGAGAG:AGAGAGAGAGAG
- Gene:
- KIFC3 (Varview), LOC388282 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAG=0./0
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.0002/53
(TOPMED)
-=0.003195/16
(1000Genomes)
- HGVS:
4.
rs1491082928 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AC
[Show Flanks]
- Chromosome:
- 16:57807958
(GRCh38)
16:57841871
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57807958:AC:ACAC
- Gene:
- KIFC3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ACAC=0./0
(
ALFA)
AC=0.00017/23
(GnomAD)
- HGVS:
5.
rs1490855206 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:57811669
(GRCh38)
16:57845581
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57811668:A:G
- Gene:
- KIFC3 (Varview), LOC388282 (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=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490309280 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:57812738
(GRCh38)
16:57846650
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57812737:C:T
- Gene:
- KIFC3 (Varview), LOC388282 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490283803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:57813551
(GRCh38)
16:57847463
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57813550:G:A
- Gene:
- KIFC3 (Varview), LOC388282 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1489823851 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 16:57813158
(GRCh38)
16:57847070
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57813157:T:A,NC_000016.10:57813157:T:C
- Gene:
- KIFC3 (Varview), LOC388282 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1489797437 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:57814022
(GRCh38)
16:57847926
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57814021:A:G
- Gene:
- KIFC3 (Varview), LOC388282 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
10.
rs1488869944 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:57813475
(GRCh38)
16:57847387
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57813474:C:T
- Gene:
- KIFC3 (Varview), LOC388282 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
11.
rs1488634783 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:57811023
(GRCh38)
16:57844935
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57811022:G:T
- Gene:
- KIFC3 (Varview), LOC388282 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
12.
rs1487837233 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:57814913
(GRCh38)
16:57848817
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57814912:T:C
- Gene:
- KIFC3 (Varview), LOC388282 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/1
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
14.
rs1487328332 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:57808501
(GRCh38)
16:57842413
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57808500:C:T
- Gene:
- KIFC3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS:
16.
rs1486345431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:57808989
(GRCh38)
16:57842901
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57808988:T:C
- Gene:
- KIFC3 (Varview), LOC388282 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000026/7
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
17.
rs1485318745 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 16:57815932
(GRCh38)
16:57849836
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57815931:T:C,NC_000016.10:57815931:T:G
- Gene:
- KIFC3 (Varview), LOC388282 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000034/9
(TOPMED)
- HGVS:
18.
rs1484943534 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 16:57809686
(GRCh38)
16:57843599
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57809686:T:TT
- Gene:
- KIFC3 (Varview), LOC388282 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1484796147 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:57817150
(GRCh38)
16:57851054
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57817149:G:C
- Gene:
- KIFC3 (Varview), LOC388282 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1484510161 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGATGTAAATTG>-
[Show Flanks]
- Chromosome:
- 16:57808861
(GRCh38)
16:57842773
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57808858:TGAGATGTAAATTG:TG
- Gene:
- KIFC3 (Varview), LOC388282 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TG=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
-=0.000057/8
(GnomAD)
- HGVS: