Links from Gene
Items: 1 to 20 of 2514
2.
rs1491451350 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 11:71818966
(GRCh38)
11:71530012
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71818964:GTG:G
- Gene:
- ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0./0
(GnomAD)
- HGVS:
3.
rs1490715760 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:71823024
(GRCh38)
11:71534070
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71823023:A:G
- Gene:
- ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
5.
rs1490354443 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:71815718
(GRCh38)
11:71526764
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71815717:G:A
- Gene:
- ALG1L9P (Varview), ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1489898050 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:71823486
(GRCh38)
11:71534532
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71823485:A:G
- Gene:
- ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (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:
7.
rs1489852902 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:71819558
(GRCh38)
11:71530604
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71819557:G:A
- Gene:
- ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
8.
rs1489831416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:71822521
(GRCh38)
11:71533567
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71822520:C:T
- Gene:
- ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000026/7
(TOPMED)
- HGVS:
9.
rs1489523392 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:71815256
(GRCh38)
11:71526302
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71815255:A:T
- Gene:
- ALG1L9P (Varview), ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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=0.000036/5
(GnomAD)
- HGVS:
10.
rs1489099966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:71815791
(GRCh38)
11:71526837
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71815790:A:G
- Gene:
- ALG1L9P (Varview), ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1488925635 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:71818767
(GRCh38)
11:71529813
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71818766:G:A
- Gene:
- ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000026/7
(TOPMED)
- HGVS:
12.
rs1488523815 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:71820151
(GRCh38)
11:71531197
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71820150:T:C
- Gene:
- ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- 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:
13.
rs1488421667 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:71822909
(GRCh38)
11:71533955
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71822908:G:A
- Gene:
- ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1488331181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:71822102
(GRCh38)
11:71533148
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71822101:G:A
- Gene:
- ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1488318964 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:71816099
(GRCh38)
11:71527145
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71816098:C:A
- Gene:
- ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1487793173 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:71813650
(GRCh38)
11:71524696
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71813649:G:T
- Gene:
- ALG1L9P (Varview), ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000038/10
(TOPMED)
T=0.000078/11
(GnomAD)
- HGVS:
17.
rs1487690852 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:71815316
(GRCh38)
11:71526362
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71815315:G:A,NC_000011.10:71815315:G:T
- Gene:
- ALG1L9P (Varview), ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00022/1
(
ALFA)
A=0.00004/1
(TOMMO)
- HGVS:
18.
rs1487461988 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:71821363
(GRCh38)
11:71532409
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71821362:A:G
- Gene:
- ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1487363432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:71816130
(GRCh38)
11:71527176
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71816129:C:T
- Gene:
- ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
20.
rs1487062204 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:71822286
(GRCh38)
11:71533332
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71822285:G:T
- Gene:
- ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (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: