Links from Gene
Items: 1 to 20 of 2750
1.
rs1490816876 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 8:102657518
(GRCh38)
8:103669747
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102657518:GG:GGG
- Gene:
- KLF10 (Varview), LOC101927245 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0./0
(
ALFA)
G=0.000036/5
(GnomAD)
G=0.000072/19
(TOPMED)
G=0.000637/11
(TOMMO)
- HGVS:
2.
rs1490570907 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 8:102651563
(GRCh38)
8:103663791
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102651562:C:G,NC_000008.11:102651562:C:T
- Gene:
- KLF10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,intron_variant
- Clinical significance:
- uncertain-significance
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.00002/5
(GnomAD_exomes)
- HGVS:
NC_000008.11:g.102651563C>G, NC_000008.11:g.102651563C>T, NC_000008.10:g.103663791C>G, NC_000008.10:g.103663791C>T, NG_033271.1:g.9340G>C, NG_033271.1:g.9340G>A, NM_001032282.4:c.736G>C, NM_001032282.4:c.736G>A, NM_001032282.3:c.736G>C, NM_001032282.3:c.736G>A, NM_005655.4:c.769G>C, NM_005655.4:c.769G>A, NM_005655.3:c.769G>C, NM_005655.3:c.769G>A, NP_001027453.1:p.Val246Leu, NP_001027453.1:p.Val246Ile, NP_005646.1:p.Val257Leu, NP_005646.1:p.Val257Ile
3.
rs1490488410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 8:102655247
(GRCh38)
8:103667475
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102655246:T:A,NC_000008.11:102655246:T:C
- Gene:
- KLF10 (Varview), LOC101927245 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.000015/2
(GnomAD)
- HGVS:
4.
rs1490158747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 8:102654731
(GRCh38)
8:103666959
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102654730:T:A,NC_000008.11:102654730:T:C
- Gene:
- KLF10 (Varview), LOC101927245 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
C=0.032571/94
(KOREAN)
- HGVS:
5.
rs1490107870 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:102654243
(GRCh38)
8:103666471
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102654242:G:A
- Gene:
- KLF10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490081151 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:102651937
(GRCh38)
8:103664165
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102651936:G:A
- Gene:
- KLF10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000008/2
(GnomAD_exomes)
- HGVS:
7.
rs1489247359 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:102656356
(GRCh38)
8:103668584
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102656355:A:G
- Gene:
- KLF10 (Varview), LOC101927245 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,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:
8.
rs1489230263 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 8:102649879
(GRCh38)
8:103662107
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102649878:A:C
- Gene:
- KLF10 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000008.11:g.102649879A>C, NC_000008.10:g.103662107A>C, NG_033271.1:g.11024T>G, NM_001032282.4:c.*253T>G, NM_001032282.3:c.*253T>G, NM_005655.4:c.*253T>G, NM_005655.3:c.*253T>G, NR_103760.2:n.1144T>G, NR_103760.1:n.1365T>G, NR_103759.2:n.1021T>G, NR_103759.1:n.1242T>G
9.
rs1489223704 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:102655789
(GRCh38)
8:103668017
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102655788:C:T
- Gene:
- KLF10 (Varview), LOC101927245 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000026/7
(TOPMED)
- HGVS:
10.
rs1488918200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:102656733
(GRCh38)
8:103668961
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102656732:T:G
- Gene:
- KLF10 (Varview), LOC101927245 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,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:
11.
rs1488409069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:102655533
(GRCh38)
8:103667761
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102655532:G:A
- Gene:
- KLF10 (Varview), LOC101927245 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000011/3
(TOPMED)
- HGVS:
12.
rs1487524940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 8:102655689
(GRCh38)
8:103667917
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102655688:C:A,NC_000008.11:102655688:C:G,NC_000008.11:102655688:C:T
- Gene:
- KLF10 (Varview), LOC101927245 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000008.11:g.102655689C>A, NC_000008.11:g.102655689C>G, NC_000008.11:g.102655689C>T, NC_000008.10:g.103667917C>A, NC_000008.10:g.103667917C>G, NC_000008.10:g.103667917C>T, NG_033271.1:g.5214G>T, NG_033271.1:g.5214G>C, NG_033271.1:g.5214G>A, NM_005655.4:c.-88G>T, NM_005655.4:c.-88G>C, NM_005655.4:c.-88G>A, NM_005655.3:c.-88G>T, NM_005655.3:c.-88G>C, NM_005655.3:c.-88G>A
13.
rs1487367825 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:102650556
(GRCh38)
8:103662784
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102650555:A:G
- Gene:
- KLF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
14.
rs1487246762 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:102653442
(GRCh38)
8:103665670
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102653441:T:C
- Gene:
- KLF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
16.
rs1487002485 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:102649758
(GRCh38)
8:103661986
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102649757:A:G
- Gene:
- KLF10 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
NC_000008.11:g.102649758A>G, NC_000008.10:g.103661986A>G, NG_033271.1:g.11145T>C, NM_001032282.4:c.*374T>C, NM_001032282.3:c.*374T>C, NM_005655.4:c.*374T>C, NM_005655.3:c.*374T>C, NR_103760.2:n.1265T>C, NR_103760.1:n.1486T>C, NR_103759.2:n.1142T>C, NR_103759.1:n.1363T>C
17.
rs1486852119 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 8:102651478
(GRCh38)
8:103663706
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102651477:A:C,NC_000008.11:102651477:A:T
- Gene:
- KLF10 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,intron_variant
- HGVS:
NC_000008.11:g.102651478A>C, NC_000008.11:g.102651478A>T, NC_000008.10:g.103663706A>C, NC_000008.10:g.103663706A>T, NG_033271.1:g.9425T>G, NG_033271.1:g.9425T>A, NM_001032282.4:c.821T>G, NM_001032282.4:c.821T>A, NM_001032282.3:c.821T>G, NM_001032282.3:c.821T>A, NM_005655.4:c.854T>G, NM_005655.4:c.854T>A, NM_005655.3:c.854T>G, NM_005655.3:c.854T>A, NP_001027453.1:p.Val274Gly, NP_001027453.1:p.Val274Asp, NP_005646.1:p.Val285Gly, NP_005646.1:p.Val285Asp
18.
rs1486728225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 8:102655175
(GRCh38)
8:103667403
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102655174:C:A,NC_000008.11:102655174:C:G
- Gene:
- KLF10 (Varview), LOC101927245 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1486639796 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 8:102657234
(GRCh38)
8:103669463
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102657234:TTTTTTT:TTTTTTTT
- Gene:
- KLF10 (Varview), LOC101927245 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
20.
rs1486492485 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 8:102653238
(GRCh38)
8:103665466
(GRCh37)
- Canonical SPDI:
- NC_000008.11:102653237:G:C
- Gene:
- KLF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: