Links from Nucleotide
Items: 1 to 20 of 309
1.
rs1487606639 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:130090901
(GRCh38)
3:129809744
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130090900:G:A
- Gene:
- ALG1L2 (Varview), LINC02014 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
2.
rs1486739797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:130094206
(GRCh38)
3:129813049
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130094205:G:A
- Gene:
- ALG1L2 (Varview), LINC02014 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
4.
rs1482754058 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:130091065
(GRCh38)
3:129809908
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130091064:C:T
- Gene:
- ALG1L2 (Varview), LINC02014 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000038/10
(TOPMED)
T=0.00005/7
(GnomAD)
- HGVS:
8.
rs1466647475 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 3:130094263
(GRCh38)
3:129813106
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130094262:C:A,NC_000003.12:130094262:C:T
- Gene:
- ALG1L2 (Varview), LINC02014 (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)
T=0.000035/1
(TOMMO)
- HGVS:
9.
rs1464351208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:130091785
(GRCh38)
3:129810628
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130091784:G:A,NC_000003.12:130091784:G:C
- Gene:
- ALG1L2 (Varview), LINC02014 (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)
- HGVS:
12.
rs1459775641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:130091819
(GRCh38)
3:129810662
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130091818:C:T
- Gene:
- ALG1L2 (Varview), LINC02014 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
13.
rs1456740560 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:130094164
(GRCh38)
3:129813007
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130094163:C:T
- Gene:
- ALG1L2 (Varview), LINC02014 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_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.
rs1450285819 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:130091836
(GRCh38)
3:129810679
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130091835:C:A
- Gene:
- ALG1L2 (Varview), LINC02014 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
15.
rs1446362300 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:130090909
(GRCh38)
3:129809752
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130090908:C:T
- Gene:
- ALG1L2 (Varview), LINC02014 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1444046236 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:130088976
(GRCh38)
3:129807819
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130088975:C:T
- Gene:
- ALG1L2 (Varview), LINC02014 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
17.
rs1443956222 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:130089444
(GRCh38)
3:129808287
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130089443:G:A
- Gene:
- ALG1L2 (Varview), LINC02014 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1443374442 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 3:130089001
(GRCh38)
3:129807844
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130089000:G:C,NC_000003.12:130089000:G:T
- Gene:
- ALG1L2 (Varview), LINC02014 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1442181760 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:130089044
(GRCh38)
3:129807887
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130089043:G:A,NC_000003.12:130089043:G:C
- Gene:
- ALG1L2 (Varview), LINC02014 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
C=0.000142/4
(TOMMO)
- HGVS:
20.
rs1442114237 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 3:130090890
(GRCh38)
3:129809733
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130090889:C:A,NC_000003.12:130090889:C:T
- Gene:
- ALG1L2 (Varview), LINC02014 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000066/1
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS: