Links from Nucleotide
Items: 1 to 20 of 210
1.
rs1487599417 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 2:64251968
(GRCh38)
2:64479102
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64251967:G:
- Gene:
- LOC100507006 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
2.
rs1484246064 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:64251119
(GRCh38)
2:64478253
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64251118:C:A
- Gene:
- LOC100507006 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1484238497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:64251866
(GRCh38)
2:64479000
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64251865:C:G
- Gene:
- LOC100507006 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
4.
rs1480021421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:64252528
(GRCh38)
2:64479662
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64252527:C:G
- Gene:
- LOC100507006 (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:
5.
rs1478771300 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:64251840
(GRCh38)
2:64478974
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64251839:T:A
- Gene:
- LOC100507006 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
6.
rs1474568471 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:64229557
(GRCh38)
2:64456691
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64229556:G:A
- Gene:
- LOC100507006 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
7.
rs1473431564 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:64251916
(GRCh38)
2:64479050
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64251915:T:G
- Gene:
- LOC100507006 (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=0.000014/2
(GnomAD)
- HGVS:
8.
rs1473226180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:64251231
(GRCh38)
2:64478365
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64251230:C:T
- Gene:
- LOC100507006 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
9.
rs1472687751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:64252500
(GRCh38)
2:64479634
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64252499:A:T
- Gene:
- LOC100507006 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
- HGVS:
10.
rs1466217230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:64251221
(GRCh38)
2:64478355
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64251220:G:A
- Gene:
- LOC100507006 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
11.
rs1461672653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 2:64228457
(GRCh38)
2:64455591
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64228456:A:C,NC_000002.12:64228456:A:G
- Gene:
- LOC100507006 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.00007/1
(
ALFA)
G=0.00022/1
(Estonian)
- HGVS:
12.
rs1457709444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:64252429
(GRCh38)
2:64479563
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64252428:C:T
- Gene:
- LOC100507006 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1450800125 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 2:64251939
(GRCh38)
2:64479073
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64251934:CTCTCT:CTCT
- Gene:
- LOC100507006 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
14.
rs1446926707 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:64251270
(GRCh38)
2:64478404
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64251269:T:C
- Gene:
- LOC100507006 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1445779222 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:64229555
(GRCh38)
2:64456689
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64229554:C:T
- Gene:
- LOC100507006 (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:
16.
rs1443214949 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:64228423
(GRCh38)
2:64455557
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64228422:G:A
- Gene:
- LOC100507006 (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:
17.
rs1438995998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 2:64252465
(GRCh38)
2:64479599
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64252464:G:A,NC_000002.12:64252464:G:C,NC_000002.12:64252464:G:T
- Gene:
- LOC100507006 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1435935220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:64251914
(GRCh38)
2:64479048
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64251913:T:C
- Gene:
- LOC100507006 (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:
19.
rs1435774105 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:64229614
(GRCh38)
2:64456748
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64229613:A:G
- Gene:
- LOC100507006 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
20.
rs1427560860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:64251959
(GRCh38)
2:64479093
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64251958:A:C
- Gene:
- LOC100507006 (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: