Links from Nucleotide
Items: 1 to 20 of 143
1.
rs1490305675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:41381610
(GRCh38)
6:41349348
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41381609:C:A
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
2.
rs1480236372 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:41381927
(GRCh38)
6:41349665
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41381926:C:T
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
4.
rs1460854670 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 6:41381868
(GRCh38)
6:41349606
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41381867:G:A,NC_000006.12:41381867:G:T
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
5.
rs1458244198 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:41381819
(GRCh38)
6:41349557
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41381818:A:G
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1449767102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:41381763
(GRCh38)
6:41349501
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41381762:G:A
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
7.
rs1444720326 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 6:41383076
(GRCh38)
6:41350815
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41383076:T:TT
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1437337438 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 6:41381449
(GRCh38)
6:41349187
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41381448:TTT:TT
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.00003/8
(TOPMED)
- HGVS:
10.
rs1430733479 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:41381571
(GRCh38)
6:41349309
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41381570:G:A
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000014/2
(GnomAD)
- HGVS:
11.
rs1429564692 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:41381809
(GRCh38)
6:41349547
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41381808:C:T
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
12.
rs1427167086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:41381799
(GRCh38)
6:41349537
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41381798:G:T
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1427080437 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 6:41381513
(GRCh38)
6:41349251
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41381512:A:T
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
14.
rs1423638809 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:41381415
(GRCh38)
6:41349153
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41381414:A:C
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1421835971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:41381429
(GRCh38)
6:41349167
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41381428:G:A
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1419241060 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 6:41381802
(GRCh38)
6:41349540
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41381801:G:A,NC_000006.12:41381801:G:T
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1415731785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 6:41381693
(GRCh38)
6:41349431
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41381692:C:G,NC_000006.12:41381692:C:T
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000042/11
(TOPMED)
- HGVS:
18.
rs1407917448 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 6:41382061
(GRCh38)
6:41349799
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41382060:C:G,NC_000006.12:41382060:C:T
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000038/10
(TOPMED)
G=0.00006/1
(TOMMO)
T=0.000071/10
(GnomAD)
- HGVS:
19.
rs1404158982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:41381539
(GRCh38)
6:41349277
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41381538:A:G
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- non_coding_transcript_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.
rs1403273149 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:41381768
(GRCh38)
6:41349506
(GRCh37)
- Canonical SPDI:
- NC_000006.12:41381767:G:A
- Gene:
- LOC100505711 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: