Links from Nucleotide
Items: 1 to 20 of 513
1.
rs1485728216 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AAT>-
[Show Flanks]
- Chromosome:
- 2:6731832
(GRCh38)
2:6871964
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6731831:AAT:
- Gene:
- LINC00487 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1484750408 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 2:6731609
(GRCh38)
2:6871741
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6731608:T:A,NC_000002.12:6731608:T:C
- Gene:
- LINC00487 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
3.
rs1484354317 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:6770287
(GRCh38)
2:6910418
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6770286:C:G
- Gene:
- LINC00487 (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)
G=0.000156/1
(1000Genomes)
G=0.002229/37
(TOMMO)
- HGVS:
4.
rs1481938166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:6730661
(GRCh38)
2:6870793
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6730660:C:T
- Gene:
- LINC00487 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1481866823 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:6731729
(GRCh38)
2:6871861
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6731728:T:C
- Gene:
- LINC00487 (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:
7.
rs1479885681 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:6736687
(GRCh38)
2:6876818
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6736686:C:T
- Gene:
- LINC00487 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000038/10
(TOPMED)
- HGVS:
8.
rs1479783900 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:6729648
(GRCh38)
2:6869780
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6729647:G:T
- Gene:
- LINC00487 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1479629689 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:6729207
(GRCh38)
2:6869339
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6729206:C:G,NC_000002.12:6729206:C:T
- Gene:
- LINC00487 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00001/1
(GnomAD)
T=0.00004/0
(TOMMO)
- HGVS:
12.
rs1474420149 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:6729629
(GRCh38)
2:6869761
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6729628:G:A
- Gene:
- LINC00487 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1474236395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:6731252
(GRCh38)
2:6871384
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6731251:T:A
- Gene:
- LINC00487 (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:
14.
rs1469803579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:6732088
(GRCh38)
2:6872220
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6732087:G:A
- Gene:
- LINC00487 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
15.
rs1466945427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:6729610
(GRCh38)
2:6869742
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6729609:A:G
- Gene:
- LINC00487 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1465498028 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACCCCTGCAGG>-
[Show Flanks]
- Chromosome:
- 2:6770161
(GRCh38)
2:6910292
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6770155:GCAGGCACCCCTGCAGG:GCAGG
- Gene:
- LINC00487 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCAGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
17.
rs1463544494 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:6730737
(GRCh38)
2:6870869
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6730736:T:C
- Gene:
- LINC00487 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
18.
rs1463410296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:6731695
(GRCh38)
2:6871827
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6731694:G:T
- Gene:
- LINC00487 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1462482208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:6732058
(GRCh38)
2:6872190
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6732057:C:G
- Gene:
- LINC00487 (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:
20.
rs1460659712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:6732118
(GRCh38)
2:6872250
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6732117:T:C
- Gene:
- LINC00487 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS: