Links from Nucleotide
Items: 1 to 20 of 444
1.
rs1490881862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:584470
(GRCh38)
4:578259
(GRCh37)
- Canonical SPDI:
- NC_000004.12:584469:T:C
- Gene:
- LOC105374338 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
2.
rs1490662847 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:577715
(GRCh38)
4:571504
(GRCh37)
- Canonical SPDI:
- NC_000004.12:577714:C:T
- Gene:
- LOC105374338 (Varview), TMEM271 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
3.
rs1489532090 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:577208
(GRCh38)
4:570997
(GRCh37)
- Canonical SPDI:
- NC_000004.12:577207:G:A
- Gene:
- LOC105374338 (Varview), TMEM271 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
4.
rs1489186618 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 4:577989
(GRCh38)
4:571778
(GRCh37)
- Canonical SPDI:
- NC_000004.12:577988:T:A,NC_000004.12:577988:T:C
- Gene:
- LOC105374338 (Varview), TMEM271 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
C=0.00004/1
(TOMMO)
- HGVS:
5.
rs1488136061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 4:577702
(GRCh38)
4:571491
(GRCh37)
- Canonical SPDI:
- NC_000004.12:577701:C:A,NC_000004.12:577701:C:T
- Gene:
- LOC105374338 (Varview), TMEM271 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
T=0.000637/11
(TOMMO)
- HGVS:
6.
rs1487893842 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:578122
(GRCh38)
4:571911
(GRCh37)
- Canonical SPDI:
- NC_000004.12:578121:C:T
- Gene:
- LOC105374338 (Varview), TMEM271 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000462/7
(
ALFA)
T=0.000086/12
(GnomAD)
T=0.001339/6
(Estonian)
T=0.005/3
(NorthernSweden)
- HGVS:
7.
rs1487279095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:578103
(GRCh38)
4:571892
(GRCh37)
- Canonical SPDI:
- NC_000004.12:578102:G:A
- Gene:
- LOC105374338 (Varview), TMEM271 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1486250339 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:584309
(GRCh38)
4:578098
(GRCh37)
- Canonical SPDI:
- NC_000004.12:584308:G:A
- Gene:
- LOC105374338 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1481471755 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 4:584587
(GRCh38)
4:578376
(GRCh37)
- Canonical SPDI:
- NC_000004.12:584586:TT:T
- Gene:
- LOC105374338 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
10.
rs1480968040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 4:577480
(GRCh38)
4:571269
(GRCh37)
- Canonical SPDI:
- NC_000004.12:577479:G:A,NC_000004.12:577479:G:C
- Gene:
- LOC105374338 (Varview), TMEM271 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
11.
rs1478654615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:578762
(GRCh38)
4:572551
(GRCh37)
- Canonical SPDI:
- NC_000004.12:578761:A:G
- Gene:
- LOC105374338 (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:
12.
rs1478647430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:578095
(GRCh38)
4:571884
(GRCh37)
- Canonical SPDI:
- NC_000004.12:578094:T:G
- Gene:
- LOC105374338 (Varview), TMEM271 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1477458178 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:577869
(GRCh38)
4:571658
(GRCh37)
- Canonical SPDI:
- NC_000004.12:577868:G:A,NC_000004.12:577868:G:T
- Gene:
- LOC105374338 (Varview), TMEM271 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
14.
rs1477130720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:584735
(GRCh38)
4:578524
(GRCh37)
- Canonical SPDI:
- NC_000004.12:584734:G:A,NC_000004.12:584734:G:T
- Gene:
- LOC105374338 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
15.
rs1471876492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:577694
(GRCh38)
4:571483
(GRCh37)
- Canonical SPDI:
- NC_000004.12:577693:A:C
- Gene:
- LOC105374338 (Varview), TMEM271 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1471620627 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:584782
(GRCh38)
4:578571
(GRCh37)
- Canonical SPDI:
- NC_000004.12:584781:G:A
- Gene:
- LOC105374338 (Varview)
- Functional Consequence:
- non_coding_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:
18.
rs1470938735 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:584725
(GRCh38)
4:578514
(GRCh37)
- Canonical SPDI:
- NC_000004.12:584724:A:G
- Gene:
- LOC105374338 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
19.
rs1470393662 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:577173
(GRCh38)
4:570962
(GRCh37)
- Canonical SPDI:
- NC_000004.12:577172:G:A
- Gene:
- LOC105374338 (Varview), TMEM271 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1467262047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:578151
(GRCh38)
4:571940
(GRCh37)
- Canonical SPDI:
- NC_000004.12:578150:G:A,NC_000004.12:578150:G:T
- Gene:
- LOC105374338 (Varview), TMEM271 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
T=0.000071/1
(TOMMO)
- HGVS: