Links from Gene
Items: 1 to 20 of 3461
1.
rs1491390764 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 12:10014708
(GRCh38)
12:10167308
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10014708::G
- Gene:
- CLEC12B (Varview), LOC102724020 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00008/1
(GoESP)
- HGVS:
NC_000012.12:g.10014708_10014709insG, NC_000012.11:g.10167307_10167308insG, NM_205852.3:c.376_377insG, NM_205852.2:c.376_377insG, NM_001129998.3:c.376_377insG, NM_001129998.2:c.376_377insG, NM_001129998.1:c.376_377insG, XM_011520658.3:c.349_350insG, XM_011520658.2:c.349_350insG, XM_011520658.1:c.349_350insG, NM_001319242.1:c.67_68insG, XM_047428833.1:c.376_377insG, XM_047428835.1:c.67_68insG, NR_135049.1:n.509_510insG, NM_001319241.1:c.67_68insG, NM_001387138.1:c.376_377insG, XM_047428832.1:c.223_224insG, XM_047428834.1:c.376_377insG, NP_995324.2:p.Lys126fs, NP_001123470.1:p.Lys126fs, XP_011518960.1:p.Lys117fs, NP_001306171.1:p.Lys23fs, XP_047284789.1:p.Lys126fs, XP_047284791.1:p.Lys23fs, NP_001306170.1:p.Lys23fs, NP_001374067.1:p.Lys126fs, XP_047284788.1:p.Lys75fs, XP_047284790.1:p.Lys126fs
2.
rs1491209062 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 12:10010201
(GRCh38)
12:10162801
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10010201::T
- Gene:
- CLEC12B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00008/1
(
ALFA)
T=0.00016/2
(GnomAD)
- HGVS:
3.
rs1491126079 has merged into rs3053772 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACACACAC>-,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 12:10010212
(GRCh38)
12:10162811
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:10010200:CACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- CLEC12B (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.10010202AC[5], NC_000012.12:g.10010202AC[8], NC_000012.12:g.10010202AC[10], NC_000012.12:g.10010202AC[11], NC_000012.12:g.10010202AC[12], NC_000012.12:g.10010202AC[13], NC_000012.12:g.10010202AC[14], NC_000012.12:g.10010202AC[15], NC_000012.12:g.10010202AC[16], NC_000012.12:g.10010202AC[17], NC_000012.12:g.10010202AC[19], NC_000012.12:g.10010202AC[20], NC_000012.12:g.10010202AC[21], NC_000012.12:g.10010202AC[22], NC_000012.12:g.10010202AC[23], NC_000012.12:g.10010202AC[24], NC_000012.12:g.10010202AC[25], NC_000012.12:g.10010202AC[26], NC_000012.12:g.10010202AC[27], NC_000012.12:g.10010202AC[28], NC_000012.12:g.10010202AC[29], NC_000012.11:g.10162801AC[5], NC_000012.11:g.10162801AC[8], NC_000012.11:g.10162801AC[10], NC_000012.11:g.10162801AC[11], NC_000012.11:g.10162801AC[12], NC_000012.11:g.10162801AC[13], NC_000012.11:g.10162801AC[14], NC_000012.11:g.10162801AC[15], NC_000012.11:g.10162801AC[16], NC_000012.11:g.10162801AC[17], NC_000012.11:g.10162801AC[19], NC_000012.11:g.10162801AC[20], NC_000012.11:g.10162801AC[21], NC_000012.11:g.10162801AC[22], NC_000012.11:g.10162801AC[23], NC_000012.11:g.10162801AC[24], NC_000012.11:g.10162801AC[25], NC_000012.11:g.10162801AC[26], NC_000012.11:g.10162801AC[27], NC_000012.11:g.10162801AC[28], NC_000012.11:g.10162801AC[29]
4.
rs1491080526 has merged into rs61525971 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:10009568
(GRCh38)
12:10162167
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10009561:AAAAAAAAAAAAA:AAAAAA,NC_000012.12:10009561:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:10009561:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:10009561:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:10009561:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:10009561:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:10009561:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- CLEC12B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
A=0.31589/1582
(1000Genomes)
- HGVS:
NC_000012.12:g.10009568_10009574del, NC_000012.12:g.10009572_10009574del, NC_000012.12:g.10009573_10009574del, NC_000012.12:g.10009574del, NC_000012.12:g.10009574dup, NC_000012.12:g.10009573_10009574dup, NC_000012.12:g.10009572_10009574dup, NC_000012.11:g.10162167_10162173del, NC_000012.11:g.10162171_10162173del, NC_000012.11:g.10162172_10162173del, NC_000012.11:g.10162173del, NC_000012.11:g.10162173dup, NC_000012.11:g.10162172_10162173dup, NC_000012.11:g.10162171_10162173dup
5.
rs1490930691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:10018256
(GRCh38)
12:10170855
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10018255:A:G
- Gene:
- CLEC12B (Varview), LOC102724020 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490802469 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:10017648
(GRCh38)
12:10170247
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10017647:T:G
- Gene:
- CLEC12B (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
7.
rs1490506936 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAAT>-
[Show Flanks]
- Chromosome:
- 12:10005117
(GRCh38)
12:10157716
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10005110:ATTAATTAAT:ATTAAT
- Gene:
- CLEC12A (Varview), CLEC12B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATTAAT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
8.
rs1490216806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 12:10017879
(GRCh38)
12:10170478
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10017878:C:A,NC_000012.12:10017878:C:T
- Gene:
- CLEC12B (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
T=0.000684/2
(KOREAN)
- HGVS:
NC_000012.12:g.10017879C>A, NC_000012.12:g.10017879C>T, NC_000012.11:g.10170478C>A, NC_000012.11:g.10170478C>T, NM_205852.3:c.*2133C>A, NM_205852.3:c.*2133C>T, NM_205852.2:c.*2133C>A, NM_205852.2:c.*2133C>T, NM_001319242.1:c.*2133C>A, NM_001319242.1:c.*2133C>T, XM_047428833.1:c.*2140C>A, XM_047428833.1:c.*2140C>T
9.
rs1490042030 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:10011204
(GRCh38)
12:10163803
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10011203:G:A
- Gene:
- CLEC12B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0./0
(GnomAD)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489964190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:10004752
(GRCh38)
12:10157351
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10004751:C:T
- Gene:
- CLEC12A (Varview), CLEC12B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
11.
rs1489656126 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:10019026
(GRCh38)
12:10171625
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10019025:T:A
- Gene:
- CLEC12B (Varview), LOC102724020 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489648491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:10004859
(GRCh38)
12:10157458
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10004858:G:C
- Gene:
- CLEC12A (Varview), CLEC12B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1489539087 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:10009062
(GRCh38)
12:10161661
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10009061:A:T
- Gene:
- CLEC12B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489124271 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:10015776
(GRCh38)
12:10168375
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10015775:G:A
- Gene:
- CLEC12B (Varview), LOC102724020 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
15.
rs1488795693 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:10017196
(GRCh38)
12:10169795
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10017195:T:C
- Gene:
- CLEC12B (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1488693169 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:10017624
(GRCh38)
12:10170223
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10017623:T:C
- Gene:
- CLEC12B (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1488642497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:10016323
(GRCh38)
12:10168922
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10016322:G:A
- Gene:
- CLEC12B (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1488557446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 12:10009462
(GRCh38)
12:10162061
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10009461:A:C,NC_000012.12:10009461:A:G
- Gene:
- CLEC12B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1488446606 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:10009737
(GRCh38)
12:10162336
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10009736:G:T
- Gene:
- CLEC12B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: