Links from Gene
Items: 1 to 20 of 730
1.
rs1488714184 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:99691618
(GRCh38)
13:100343872
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99691617:A:G
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
2.
rs1488625190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 13:99690557
(GRCh38)
13:100342811
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99690556:A:C
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview), LOC124903199 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,non_coding_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1482892329 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CATA>-
[Show Flanks]
- Chromosome:
- 13:99691373
(GRCh38)
13:100343627
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99691370:TACATA:TA
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TA=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
5.
rs1482792856 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 13:99690324
(GRCh38)
13:100342578
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99690322:TCT:T
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview), LOC124903199 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
7.
rs1480670763 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:99692524
(GRCh38)
13:100344778
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99692523:C:T
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
8.
rs1479724888 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:99691764
(GRCh38)
13:100344018
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99691763:C:T
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_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:
9.
rs1479558337 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:99691304
(GRCh38)
13:100343558
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99691303:T:C
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
10.
rs1479135092 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:99691154
(GRCh38)
13:100343408
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99691153:A:G
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
11.
rs1478815019 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 13:99691694
(GRCh38)
13:100343948
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99691693:AAA:AA
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
12.
rs1478302117 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:99692590
(GRCh38)
13:100344844
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99692589:C:T
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_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:
13.
rs1477152883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:99690159
(GRCh38)
13:100342413
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99690158:G:C
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview), LOC124903199 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1475838121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:99692891
(GRCh38)
13:100345145
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99692890:T:C
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1473483494 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:99691870
(GRCh38)
13:100344124
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99691869:A:G
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1472404421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:99690283
(GRCh38)
13:100342537
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99690282:A:G
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview), LOC124903199 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1472379252 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 13:99690025
(GRCh38)
13:100342279
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99690024:T:
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview), LOC124903199 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
18.
rs1471875752 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 13:99689765
(GRCh38)
13:100342019
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99689764:C:
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview), LOC124903199 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
19.
rs1468465869 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 13:99690902
(GRCh38)
13:100343156
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99690901:A:C
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1468445618 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 13:99691393
(GRCh38)
13:100343647
(GRCh37)
- Canonical SPDI:
- NC_000013.11:99691392:GGGGGGG:GGGGGG,NC_000013.11:99691392:GGGGGGG:GGGGGGGG
- Gene:
- CLYBL (Varview), CLYBL-AS2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGG=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000021/3
(GnomAD)
-=0.000177/3
(TOMMO)
- HGVS: