Links from Gene
Items: 1 to 20 of 1000
1.
rs1491308937 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 17:7076308
(GRCh38)
17:6979628
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7076308:TT:TTCTT
- Gene:
- CLEC10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTCTT=0.00059/7
(
ALFA)
TTC=0.000757/78
(GnomAD)
- HGVS:
2.
rs1491263518 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 17:7081058
(GRCh38)
17:6984378
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7081058::C
- Gene:
- CLEC10A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491100601 has merged into rs1206807036 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:7076316
(GRCh38)
17:6979635
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7076307:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CLEC10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.7076316_7076327del, NC_000017.11:g.7076317_7076327del, NC_000017.11:g.7076320_7076327del, NC_000017.11:g.7076321_7076327del, NC_000017.11:g.7076323_7076327del, NC_000017.11:g.7076324_7076327del, NC_000017.11:g.7076325_7076327del, NC_000017.11:g.7076326_7076327del, NC_000017.11:g.7076327del, NC_000017.11:g.7076327dup, NC_000017.11:g.7076326_7076327dup, NC_000017.11:g.7076325_7076327dup, NC_000017.11:g.7076324_7076327dup, NC_000017.11:g.7076323_7076327dup, NC_000017.11:g.7076322_7076327dup, NC_000017.11:g.7076321_7076327dup, NC_000017.11:g.7076320_7076327dup, NC_000017.11:g.7076319_7076327dup, NC_000017.11:g.7076318_7076327dup, NC_000017.11:g.7076317_7076327dup, NC_000017.11:g.7076316_7076327dup, NC_000017.11:g.7076315_7076327dup, NC_000017.11:g.7076312_7076327dup, NC_000017.11:g.7076311_7076327dup, NC_000017.11:g.7076310_7076327dup, NC_000017.10:g.6979635_6979646del, NC_000017.10:g.6979636_6979646del, NC_000017.10:g.6979639_6979646del, NC_000017.10:g.6979640_6979646del, NC_000017.10:g.6979642_6979646del, NC_000017.10:g.6979643_6979646del, NC_000017.10:g.6979644_6979646del, NC_000017.10:g.6979645_6979646del, NC_000017.10:g.6979646del, NC_000017.10:g.6979646dup, NC_000017.10:g.6979645_6979646dup, NC_000017.10:g.6979644_6979646dup, NC_000017.10:g.6979643_6979646dup, NC_000017.10:g.6979642_6979646dup, NC_000017.10:g.6979641_6979646dup, NC_000017.10:g.6979640_6979646dup, NC_000017.10:g.6979639_6979646dup, NC_000017.10:g.6979638_6979646dup, NC_000017.10:g.6979637_6979646dup, NC_000017.10:g.6979636_6979646dup, NC_000017.10:g.6979635_6979646dup, NC_000017.10:g.6979634_6979646dup, NC_000017.10:g.6979631_6979646dup, NC_000017.10:g.6979630_6979646dup, NC_000017.10:g.6979629_6979646dup, NG_029878.1:g.8963_8974del, NG_029878.1:g.8964_8974del, NG_029878.1:g.8967_8974del, NG_029878.1:g.8968_8974del, NG_029878.1:g.8970_8974del, NG_029878.1:g.8971_8974del, NG_029878.1:g.8972_8974del, NG_029878.1:g.8973_8974del, NG_029878.1:g.8974del, NG_029878.1:g.8974dup, NG_029878.1:g.8973_8974dup, NG_029878.1:g.8972_8974dup, NG_029878.1:g.8971_8974dup, NG_029878.1:g.8970_8974dup, NG_029878.1:g.8969_8974dup, NG_029878.1:g.8968_8974dup, NG_029878.1:g.8967_8974dup, NG_029878.1:g.8966_8974dup, NG_029878.1:g.8965_8974dup, NG_029878.1:g.8964_8974dup, NG_029878.1:g.8963_8974dup, NG_029878.1:g.8962_8974dup, NG_029878.1:g.8959_8974dup, NG_029878.1:g.8958_8974dup, NG_029878.1:g.8957_8974dup
4.
rs1490570175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:7076502
(GRCh38)
17:6979821
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7076501:C:T
- Gene:
- CLEC10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000022/3
(GnomAD)
T=0.000053/14
(TOPMED)
T=0.001092/2
(Korea1K)
T=0.001558/26
(TOMMO)
T=0.001714/5
(KOREAN)
- HGVS:
5.
rs1490046881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:7079506
(GRCh38)
17:6982825
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7079505:C:T
- Gene:
- CLEC10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1489684901 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:7074143
(GRCh38)
17:6977462
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7074142:C:A
- Gene:
- CLEC10A (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1488705764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:7074749
(GRCh38)
17:6978068
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7074748:T:C
- Gene:
- CLEC10A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
NC_000017.11:g.7074749T>C, NC_000017.10:g.6978068T>C, NG_029878.1:g.10533A>G, NM_182906.4:c.*305A>G, NM_182906.3:c.*305A>G, NM_182906.2:c.*305A>G, NM_006344.4:c.*305A>G, NM_006344.3:c.*305A>G, NM_006344.2:c.*305A>G, NM_001330070.2:c.*305A>G, NM_001330070.1:c.*305A>G, XM_011523613.2:c.*305A>G, XM_011523613.1:c.*305A>G, XM_011523615.2:c.*305A>G, XM_011523615.1:c.*305A>G
9.
rs1488611435 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCC>-
[Show Flanks]
- Chromosome:
- 17:7080330
(GRCh38)
17:6983649
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7080322:CTCCTCCTCC:CTCCTCC
- Gene:
- CLEC10A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCCTCC=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
10.
rs1488346314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:7077181
(GRCh38)
17:6980500
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7077180:A:G
- Gene:
- CLEC10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1488086369 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:7080492
(GRCh38)
17:6983811
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7080491:G:A
- Gene:
- CLEC10A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000071/10
(GnomAD)
A=0.000076/20
(TOPMED)
- HGVS:
12.
rs1487989813 has merged into rs1207642602 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 17:7077703
(GRCh38)
17:6981022
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7077702:CCCCCC:CCCCC,NC_000017.11:7077702:CCCCCC:CCCCCCC
- Gene:
- CLEC10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCC=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.00004/2
(GnomAD)
- HGVS:
13.
rs1487848471 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:7078514
(GRCh38)
17:6981833
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7078513:C:T
- Gene:
- CLEC10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000342/1
(KOREAN)
- HGVS:
14.
rs1487596058 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:7082298
(GRCh38)
17:6985617
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7082297:G:C
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1487448781 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:7074450
(GRCh38)
17:6977769
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7074449:T:G
- Gene:
- CLEC10A (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1487391919 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:7079275
(GRCh38)
17:6982594
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7079274:G:A
- Gene:
- CLEC10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
18.
rs1487321921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:7075282
(GRCh38)
17:6978601
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7075281:G:A,NC_000017.11:7075281:G:C
- Gene:
- CLEC10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1486998012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 17:7079420
(GRCh38)
17:6982739
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7079419:T:A,NC_000017.11:7079419:T:C
- Gene:
- CLEC10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.00005/7
(GnomAD)
C=0.000119/2
(TOMMO)
- HGVS:
20.
rs1486664356 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 17:7076335
(GRCh38)
17:6979654
(GRCh37)
- Canonical SPDI:
- NC_000017.11:7076334:A:G,NC_000017.11:7076334:A:T
- Gene:
- CLEC10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00042/5
(
ALFA)
T=0.00001/1
(GnomAD)
G=0.04879/141
(KOREAN)
- HGVS: