Links from Nucleotide
Items: 1 to 20 of 614
1.
rs1490247005 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:133506244
(GRCh38)
6:133827382
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133506243:T:C
- Gene:
- EYA4 (Varview), TARID (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
2.
rs1489524042 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:133506098
(GRCh38)
6:133827236
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133506097:C:T
- Gene:
- EYA4 (Varview), TARID (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
3.
rs1488575332 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:133536876
(GRCh38)
6:133858014
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133536875:A:G
- Gene:
- TARID (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
4.
rs1487719958 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AATTGT>-
[Show Flanks]
- Chromosome:
- 6:133537027
(GRCh38)
6:133858165
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133537023:TGTAATTGT:TGT
- Gene:
- TARID (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TGT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
5.
rs1486897873 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:133536141
(GRCh38)
6:133857279
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133536140:T:A
- Gene:
- TARID (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
6.
rs1486189677 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 6:133536119
(GRCh38)
6:133857257
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133536118:A:G,NC_000006.12:133536118:A:T
- Gene:
- TARID (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
7.
rs1484084212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:133888855
(GRCh38)
6:134209993
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133888854:A:G
- Gene:
- TCF21 (Varview), TARID (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1483627010 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:133537159
(GRCh38)
6:133858297
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133537158:A:C
- Gene:
- TARID (Varview)
- Functional Consequence:
- non_coding_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:
9.
rs1482984933 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:133537067
(GRCh38)
6:133858205
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133537066:A:C
- Gene:
- TARID (Varview)
- Functional Consequence:
- non_coding_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:
10.
rs1481389633 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 6:133535877
(GRCh38)
6:133857015
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133535876:T:A,NC_000006.12:133535876:T:C
- Gene:
- TARID (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1476698533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:133507313
(GRCh38)
6:133828451
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133507312:C:T
- Gene:
- EYA4 (Varview), TARID (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:
12.
rs1475312431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:133506226
(GRCh38)
6:133827364
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133506225:A:G
- Gene:
- EYA4 (Varview), TARID (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1473495911 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:133888616
(GRCh38)
6:134209754
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133888615:A:G
- Gene:
- TCF21 (Varview), TARID (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1473019746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:133536588
(GRCh38)
6:133857726
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133536587:G:C
- Gene:
- TARID (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1472501101 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:133537212
(GRCh38)
6:133858350
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133537211:C:G
- Gene:
- TARID (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1471744225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 6:133536712
(GRCh38)
6:133857850
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133536711:G:A,NC_000006.12:133536711:G:T
- Gene:
- TARID (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
18.
rs1466158193 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:133537126
(GRCh38)
6:133858264
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133537125:T:C
- Gene:
- TARID (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1465454597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:133536620
(GRCh38)
6:133857758
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133536619:T:C
- Gene:
- TARID (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1465178395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:133888628
(GRCh38)
6:134209766
(GRCh37)
- Canonical SPDI:
- NC_000006.12:133888627:G:A
- Gene:
- TCF21 (Varview), TARID (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS: