Links from Nucleotide
Items: 1 to 20 of 143
1.
rs1483763761 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:59637520
(GRCh38)
3:59623246
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59637519:C:A
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,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:
2.
rs1473741313 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:59641680
(GRCh38)
3:59627406
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59641679:G:T
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1469947073 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:59637330
(GRCh38)
3:59623056
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59637329:C:T
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1464360107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:59637575
(GRCh38)
3:59623301
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59637574:T:C
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_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:
5.
rs1455476355 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:59637416
(GRCh38)
3:59623142
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59637415:G:A
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
6.
rs1453593202 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:59658406
(GRCh38)
3:59644132
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59658405:G:A,NC_000003.12:59658405:G:C
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
7.
rs1447782867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:59637493
(GRCh38)
3:59623219
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59637492:G:A,NC_000003.12:59637492:G:C
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
8.
rs1443497104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:59640163
(GRCh38)
3:59625889
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59640162:C:T
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1442233338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:59658436
(GRCh38)
3:59644162
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59658435:C:T
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
10.
rs1440047714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:59637325
(GRCh38)
3:59623051
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59637324:A:C
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1438597539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:59641661
(GRCh38)
3:59627387
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59641660:C:G
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
12.
rs1435107543 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:59637381
(GRCh38)
3:59623107
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59637380:C:G
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
14.
rs1424851860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:59637591
(GRCh38)
3:59623317
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59637590:A:C
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,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:
15.
rs1421933190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:59637492
(GRCh38)
3:59623218
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59637491:A:G
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1421624136 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:59637588
(GRCh38)
3:59623314
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59637587:G:A,NC_000003.12:59637587:G:C
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
17.
rs1420184260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 3:59637397
(GRCh38)
3:59623123
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59637396:G:A,NC_000003.12:59637396:G:T
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_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)
A=0.000071/1
(TOMMO)
- HGVS:
18.
rs1417384105 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:59658463
(GRCh38)
3:59644189
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59658462:A:G
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1411525077 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:59637314
(GRCh38)
3:59623040
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59637313:A:G
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1407105116 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 3:59637451
(GRCh38)
3:59623177
(GRCh37)
- Canonical SPDI:
- NC_000003.12:59637450:C:G,NC_000003.12:59637450:C:T
- Gene:
- LOC339902 (Varview), CFAP20DC-DT (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: