Links from Nucleotide
Items: 1 to 20 of 912
1.
rs1491034719 has merged into rs5803069 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:40798293
(GRCh38)
13:41372429
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40798279:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:40798279:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:40798279:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:40798279:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:40798279:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:40798279:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:40798279:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:40798279:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SLC25A15 (Varview), TPTE2P5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0.00029/3
(
ALFA)
- HGVS:
NC_000013.11:g.40798293_40798295del, NC_000013.11:g.40798294_40798295del, NC_000013.11:g.40798295del, NC_000013.11:g.40798295dup, NC_000013.11:g.40798294_40798295dup, NC_000013.11:g.40798293_40798295dup, NC_000013.11:g.40798292_40798295dup, NC_000013.11:g.40798289_40798295dup, NC_000013.10:g.41372429_41372431del, NC_000013.10:g.41372430_41372431del, NC_000013.10:g.41372431del, NC_000013.10:g.41372431dup, NC_000013.10:g.41372430_41372431dup, NC_000013.10:g.41372429_41372431dup, NC_000013.10:g.41372428_41372431dup, NC_000013.10:g.41372425_41372431dup, NG_012248.1:g.13883_13885del, NG_012248.1:g.13884_13885del, NG_012248.1:g.13885del, NG_012248.1:g.13885dup, NG_012248.1:g.13884_13885dup, NG_012248.1:g.13883_13885dup, NG_012248.1:g.13882_13885dup, NG_012248.1:g.13879_13885dup, NR_038258.1:n.3065_3067del, NR_038258.1:n.3066_3067del, NR_038258.1:n.3067del, NR_038258.1:n.3067dup, NR_038258.1:n.3066_3067dup, NR_038258.1:n.3065_3067dup, NR_038258.1:n.3064_3067dup, NR_038258.1:n.3061_3067dup, NR_038259.1:n.2894_2896del, NR_038259.1:n.2895_2896del, NR_038259.1:n.2896del, NR_038259.1:n.2896dup, NR_038259.1:n.2895_2896dup, NR_038259.1:n.2894_2896dup, NR_038259.1:n.2893_2896dup, NR_038259.1:n.2890_2896dup
2.
rs1490731724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:40798169
(GRCh38)
13:41372305
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40798168:A:G
- Gene:
- SLC25A15 (Varview), TPTE2P5 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
4.
rs1489769088 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:40797591
(GRCh38)
13:41371727
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40797590:C:T
- Gene:
- SLC25A15 (Varview), TPTE2P5 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
5.
rs1489151176 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:40799276
(GRCh38)
13:41373412
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40799275:T:C
- Gene:
- SLC25A15 (Varview), TPTE2P5 (Varview)
- Functional Consequence:
- coding_sequence_variant,non_coding_transcript_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1487631876 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 13:40854895
(GRCh38)
13:41429031
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40854894:A:T
- Gene:
- TPTE2P5 (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=0.000014/2
(GnomAD)
- HGVS:
7.
rs1487170798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:40836843
(GRCh38)
13:41410979
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40836842:G:C
- Gene:
- TPTE2P5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000026/7
(TOPMED)
- HGVS:
8.
rs1486238718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:40798503
(GRCh38)
13:41372639
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40798502:G:C
- Gene:
- SLC25A15 (Varview), TPTE2P5 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
9.
rs1485573813 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:40798522
(GRCh38)
13:41372658
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40798521:A:G
- Gene:
- SLC25A15 (Varview), TPTE2P5 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000447/2
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000446/2
(Estonian)
- HGVS:
10.
rs1484145976 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:40836620
(GRCh38)
13:41410756
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40836619:A:G
- Gene:
- TPTE2P5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1483944060 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:40854714
(GRCh38)
13:41428850
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40854713:C:T
- Gene:
- TPTE2P5 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1483432537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:40836813
(GRCh38)
13:41410949
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40836812:T:G
- Gene:
- TPTE2P5 (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:
14.
rs1482090066 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 13:40797152
(GRCh38)
13:41371288
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40797151:T:A,NC_000013.11:40797151:T:G
- Gene:
- SLC25A15 (Varview), TPTE2P5 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1481804428 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:40798257
(GRCh38)
13:41372393
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40798256:G:A
- Gene:
- SLC25A15 (Varview), TPTE2P5 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
16.
rs1480774840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:40800470
(GRCh38)
13:41374606
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40800469:T:C
- Gene:
- SLC25A15 (Varview), TPTE2P5 (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:
17.
rs1479848304 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:40800292
(GRCh38)
13:41374428
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40800291:A:G
- Gene:
- SLC25A15 (Varview), TPTE2P5 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1479434738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:40797725
(GRCh38)
13:41371861
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40797724:A:G
- Gene:
- SLC25A15 (Varview), TPTE2P5 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1478324139 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:40921659
(GRCh38)
13:41495795
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40921658:C:T
- Gene:
- SUGT1P3 (Varview), TPTE2P5 (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=0.000011/2
(GnomAD_exomes)
T=0.000023/6
(TOPMED)
- HGVS:
20.
rs1476817748 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:40797030
(GRCh38)
13:41371166
(GRCh37)
- Canonical SPDI:
- NC_000013.11:40797029:G:A
- Gene:
- SLC25A15 (Varview), TPTE2P5 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: