Links from Nucleotide
Items: 1 to 20 of 5560
1.
rs1491489621 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 11:119185354
(GRCh38)
11:119056064
(GRCh37)
- Canonical SPDI:
- NC_000011.10:119185354:G:GG
- Gene:
- PDZD3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000015/2
(GnomAD)
- HGVS:
3.
rs1491420746 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 11:119166173
(GRCh38)
11:119036883
(GRCh37)
- Canonical SPDI:
- NC_000011.10:119166173::C
- Validated:
- by frequency,by alfa
- MAF:
C=0.001119/5
(
ALFA)
C=0.000033/4
(GnomAD)
- HGVS:
4.
rs1491005027 has merged into rs555636753 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 11:119171962
(GRCh38)
11:119042671
(GRCh37)
- Canonical SPDI:
- NC_000011.10:119171954:AAAAAAAAAAAAA:AAAAAAA,NC_000011.10:119171954:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:119171954:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:119171954:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:119171954:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:119171954:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- NLRX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.119171962_119171967del, NC_000011.10:g.119171965_119171967del, NC_000011.10:g.119171966_119171967del, NC_000011.10:g.119171967del, NC_000011.10:g.119171967dup, NC_000011.10:g.119171966_119171967dup, NC_000011.9:g.119042671_119042676del, NC_000011.9:g.119042674_119042676del, NC_000011.9:g.119042675_119042676del, NC_000011.9:g.119042676del, NC_000011.9:g.119042676dup, NC_000011.9:g.119042675_119042676dup, NG_047185.1:g.8629_8634del, NG_047185.1:g.8632_8634del, NG_047185.1:g.8633_8634del, NG_047185.1:g.8634del, NG_047185.1:g.8634dup, NG_047185.1:g.8633_8634dup
5.
rs1490859283 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:119179375
(GRCh38)
11:119050084
(GRCh37)
- Canonical SPDI:
- NC_000011.10:119179374:C:T
- Gene:
- NLRX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
6.
rs1490749219 has merged into rs1222922109 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 11:119172281
(GRCh38)
11:119042990
(GRCh37)
- Canonical SPDI:
- NC_000011.10:119172280:GGGGGG:GGGGG,NC_000011.10:119172280:GGGGGG:GGGGGGG
- Gene:
- NLRX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGG=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
- HGVS:
7.
rs1490655081 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:119171878
(GRCh38)
11:119042587
(GRCh37)
- Canonical SPDI:
- NC_000011.10:119171877:C:T
- Gene:
- NLRX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490652249 has merged into rs775651512 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:119177636
(GRCh38)
11:119048345
(GRCh37)
- Canonical SPDI:
- NC_000011.10:119177629:AAAAAAAAAAAAA:AAAAAA,NC_000011.10:119177629:AAAAAAAAAAAAA:AAAAAAA,NC_000011.10:119177629:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:119177629:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:119177629:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:119177629:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:119177629:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:119177629:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- NLRX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0./0
(
ALFA)
A=0.00221/37
(TOMMO)
-=0.075/3
(GENOME_DK)
- HGVS:
NC_000011.10:g.119177636_119177642del, NC_000011.10:g.119177637_119177642del, NC_000011.10:g.119177640_119177642del, NC_000011.10:g.119177641_119177642del, NC_000011.10:g.119177642del, NC_000011.10:g.119177642dup, NC_000011.10:g.119177641_119177642dup, NC_000011.10:g.119177640_119177642dup, NC_000011.9:g.119048345_119048351del, NC_000011.9:g.119048346_119048351del, NC_000011.9:g.119048349_119048351del, NC_000011.9:g.119048350_119048351del, NC_000011.9:g.119048351del, NC_000011.9:g.119048351dup, NC_000011.9:g.119048350_119048351dup, NC_000011.9:g.119048349_119048351dup, NG_047185.1:g.14303_14309del, NG_047185.1:g.14304_14309del, NG_047185.1:g.14307_14309del, NG_047185.1:g.14308_14309del, NG_047185.1:g.14309del, NG_047185.1:g.14309dup, NG_047185.1:g.14308_14309dup, NG_047185.1:g.14307_14309dup
9.
rs1490608062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:119169990
(GRCh38)
11:119040699
(GRCh37)
- Canonical SPDI:
- NC_000011.10:119169989:C:A
- Gene:
- NLRX1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
A=0.000009/1
(GnomAD)
- HGVS:
10.
rs1490557383 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:119167917
(GRCh38)
11:119038626
(GRCh37)
- Canonical SPDI:
- NC_000011.10:119167916:C:T
- Gene:
- NLRX1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
11.
rs1490497045 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:119180382
(GRCh38)
11:119051091
(GRCh37)
- Canonical SPDI:
- NC_000011.10:119180381:G:A,NC_000011.10:119180381:G:T
- Gene:
- NLRX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490433797 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGGTCTCTCACCTCCC>-
[Show Flanks]
- Chromosome:
- 11:119181133
(GRCh38)
11:119051842
(GRCh37)
- Canonical SPDI:
- NC_000011.10:119181126:CCTCCCTGGTCTCTCACCTCCC:CCTCCC
- Gene:
- NLRX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCTCCC=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490333752 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGCACTCCAGCCTGGGCAAC>-
[Show Flanks]
- Chromosome:
- 11:119169958
(GRCh38)
11:119040667
(GRCh37)
- Canonical SPDI:
- NC_000011.10:119169955:ACTGCACTCCAGCCTGGGCAAC:AC
- Gene:
- NLRX1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000009/1
(GnomAD)
- HGVS:
14.
rs1490317368 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:119183588
(GRCh38)
11:119054297
(GRCh37)
- Canonical SPDI:
- NC_000011.10:119183587:G:A
- Gene:
- NLRX1 (Varview), PDZD3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000011.10:g.119183588G>A, NC_000011.9:g.119054297G>A, NG_047185.1:g.20255G>A, NM_024618.4:c.*149G>A, NM_024618.3:c.*149G>A, NM_024618.2:c.*149G>A, NM_001282144.2:c.*149G>A, NM_001282144.1:c.*149G>A, NM_001282143.2:c.*149G>A, NM_001282143.1:c.*149G>A, NM_001282358.2:c.*149G>A, NM_001282358.1:c.*149G>A, XM_005271669.2:c.*149G>A, XM_005271669.1:c.*149G>A, XM_011542980.2:c.*149G>A, XM_011542980.1:c.*149G>A, XM_047427589.1:c.*149G>A
15.
rs1489635251 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:119177243
(GRCh38)
11:119047952
(GRCh37)
- Canonical SPDI:
- NC_000011.10:119177242:G:A
- Gene:
- NLRX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
16.
rs1489630115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:119178857
(GRCh38)
11:119049566
(GRCh37)
- Canonical SPDI:
- NC_000011.10:119178856:A:T
- Gene:
- NLRX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000071/1
(TOMMO)
T=0.000546/1
(Korea1K)
- HGVS:
17.
rs1489473191 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:119175128
(GRCh38)
11:119045837
(GRCh37)
- Canonical SPDI:
- NC_000011.10:119175127:G:C
- Gene:
- NLRX1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.119175128G>C, NC_000011.9:g.119045837G>C, NG_047185.1:g.11795G>C, NM_024618.4:c.1525G>C, NM_024618.3:c.1525G>C, NM_024618.2:c.1525G>C, NM_001282144.2:c.1525G>C, NM_001282144.1:c.1525G>C, NM_001282143.2:c.1525G>C, NM_001282143.1:c.1525G>C, NM_001282358.2:c.1525G>C, NM_001282358.1:c.1525G>C, NM_170722.2:c.1525G>C, NM_170722.1:c.1525G>C, XM_005271669.2:c.1525G>C, XM_005271669.1:c.1525G>C, XM_011542980.2:c.1525G>C, XM_011542980.1:c.1525G>C, XM_006718904.2:c.1525G>C, XM_006718904.1:c.1525G>C, XM_047427589.1:c.991G>C, XM_047427586.1:c.1525G>C, XM_047427588.1:c.1525G>C, XM_047427587.1:c.1525G>C, NP_078894.2:p.Gly509Arg, NP_001269073.1:p.Gly509Arg, NP_001269072.1:p.Gly509Arg, NP_001269287.1:p.Gly509Arg, XP_005271726.1:p.Gly509Arg, XP_011541282.1:p.Gly509Arg, XP_006718967.1:p.Gly509Arg, XP_047283545.1:p.Gly331Arg, XP_047283542.1:p.Gly509Arg, XP_047283544.1:p.Gly509Arg, XP_047283543.1:p.Gly509Arg
18.
rs1489451234 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 11:119184072
(GRCh38)
11:119054781
(GRCh37)
- Canonical SPDI:
- NC_000011.10:119184071:TTT:TT
- Gene:
- NLRX1 (Varview), PDZD3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS: