Links from Nucleotide
Items: 1 to 20 of 424
1.
rs1490325004 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:84291420
(GRCh38)
2:84518544
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84291419:G:T
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- intron_variant,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:
2.
rs1489968480 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 2:84292051
(GRCh38)
2:84519175
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84292050:CC:C
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1489838961 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:84291032
(GRCh38)
2:84518156
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84291031:A:G
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- intron_variant,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:
4.
rs1487494658 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 2:84291984
(GRCh38)
2:84519108
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84291980:TCTCT:TCT
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TCT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
5.
rs1486927249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:84290834
(GRCh38)
2:84517958
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84290833:C:T
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1480772692 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:84290693
(GRCh38)
2:84517817
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84290692:C:T
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- intron_variant,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:
7.
rs1479138881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:84291104
(GRCh38)
2:84518228
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84291103:C:G,NC_000002.12:84291103:C:T
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000002.12:g.84291104C>G, NC_000002.12:g.84291104C>T, NC_000002.11:g.84518228C>G, NC_000002.11:g.84518228C>T, NG_083958.1:g.1144C>G, NG_083958.1:g.1144C>T, NM_001013648.3:c.286C>G, NM_001013648.3:c.286C>T, NR_003663.1:n.423C>G, NR_003663.1:n.423C>T, NM_001013648.1:c.286C>G, NM_001013648.1:c.286C>T
8.
rs1476490330 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:84290779
(GRCh38)
2:84517903
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84290778:A:G
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1473249584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:84291971
(GRCh38)
2:84519095
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84291970:A:C
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1471101562 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:84290998
(GRCh38)
2:84518122
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84290997:T:G
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.0131/24
(Korea1K)
- HGVS:
12.
rs1469502309 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:84291603
(GRCh38)
2:84518727
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84291602:G:A
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
13.
rs1466407128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:84291260
(GRCh38)
2:84518384
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84291259:G:A
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1465545247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:84292119
(GRCh38)
2:84519243
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84292118:T:G
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1465126198 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:84291225
(GRCh38)
2:84518349
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84291224:T:C
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1461820877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:84291578
(GRCh38)
2:84518702
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84291577:A:G
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000026/7
(TOPMED)
G=0.00005/7
(GnomAD)
- HGVS:
17.
rs1460946204 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:84291336
(GRCh38)
2:84518460
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84291335:A:G
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1460637976 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 2:84291657
(GRCh38)
2:84518781
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84291656:T:
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
19.
rs1459547500 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 2:84291291
(GRCh38)
2:84518415
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84291290:T:A,NC_000002.12:84291290:T:C
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- HGVS:
NC_000002.12:g.84291291T>A, NC_000002.12:g.84291291T>C, NC_000002.11:g.84518415T>A, NC_000002.11:g.84518415T>C, NG_083958.1:g.1331T>A, NG_083958.1:g.1331T>C, NM_001013648.3:c.*17T>A, NM_001013648.3:c.*17T>C, NR_003663.1:n.610T>A, NR_003663.1:n.610T>C, NM_001013648.1:c.*17T>A, NM_001013648.1:c.*17T>C
20.
rs1459202378 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AA
[Show Flanks]
- Chromosome:
- 2:84291408
(GRCh38)
2:84518533
(GRCh37)
- Canonical SPDI:
- NC_000002.12:84291408:AA:AAAA
- Gene:
- FUNDC2P2 (Varview), LOC107985905 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
AA=0.000004/1
(TOPMED)
AA=0.000007/1
(GnomAD)
- HGVS: