Links from Nucleotide
Items: 1 to 20 of 1000
1.
rs1491243454 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 12:6661407
(GRCh38)
12:6770574
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6661407::C
- Gene:
- ING4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00007/7
(GnomAD)
- HGVS:
2.
rs1491237180 has merged into rs1174675715 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:6661420
(GRCh38)
12:6770586
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6661406:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ING4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000012.12:g.6661420_6661429del, NC_000012.12:g.6661421_6661429del, NC_000012.12:g.6661422_6661429del, NC_000012.12:g.6661423_6661429del, NC_000012.12:g.6661425_6661429del, NC_000012.12:g.6661426_6661429del, NC_000012.12:g.6661427_6661429del, NC_000012.12:g.6661428_6661429del, NC_000012.12:g.6661429del, NC_000012.12:g.6661429dup, NC_000012.12:g.6661428_6661429dup, NC_000012.12:g.6661427_6661429dup, NC_000012.12:g.6661426_6661429dup, NC_000012.12:g.6661425_6661429dup, NC_000012.12:g.6661424_6661429dup, NC_000012.12:g.6661423_6661429dup, NC_000012.12:g.6661420_6661429dup, NC_000012.12:g.6661419_6661429dup, NC_000012.12:g.6661418_6661429dup, NC_000012.12:g.6661429_6661430insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.6770586_6770595del, NC_000012.11:g.6770587_6770595del, NC_000012.11:g.6770588_6770595del, NC_000012.11:g.6770589_6770595del, NC_000012.11:g.6770591_6770595del, NC_000012.11:g.6770592_6770595del, NC_000012.11:g.6770593_6770595del, NC_000012.11:g.6770594_6770595del, NC_000012.11:g.6770595del, NC_000012.11:g.6770595dup, NC_000012.11:g.6770594_6770595dup, NC_000012.11:g.6770593_6770595dup, NC_000012.11:g.6770592_6770595dup, NC_000012.11:g.6770591_6770595dup, NC_000012.11:g.6770590_6770595dup, NC_000012.11:g.6770589_6770595dup, NC_000012.11:g.6770586_6770595dup, NC_000012.11:g.6770585_6770595dup, NC_000012.11:g.6770584_6770595dup, NC_000012.11:g.6770595_6770596insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047151.1:g.6734_6743del, NG_047151.1:g.6735_6743del, NG_047151.1:g.6736_6743del, NG_047151.1:g.6737_6743del, NG_047151.1:g.6739_6743del, NG_047151.1:g.6740_6743del, NG_047151.1:g.6741_6743del, NG_047151.1:g.6742_6743del, NG_047151.1:g.6743del, NG_047151.1:g.6743dup, NG_047151.1:g.6742_6743dup, NG_047151.1:g.6741_6743dup, NG_047151.1:g.6740_6743dup, NG_047151.1:g.6739_6743dup, NG_047151.1:g.6738_6743dup, NG_047151.1:g.6737_6743dup, NG_047151.1:g.6734_6743dup, NG_047151.1:g.6733_6743dup, NG_047151.1:g.6732_6743dup, NG_047151.1:g.6743_6744insAAAAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491069926 has merged into rs34568819 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:6663856
(GRCh38)
12:6773022
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6663842:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:6663842:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:6663842:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:6663842:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:6663842:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:6663842:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:6663842:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:6663842:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6663842:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6663842:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:6663842:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ING4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.182109/912
(1000Genomes)
- HGVS:
NC_000012.12:g.6663856_6663860del, NC_000012.12:g.6663857_6663860del, NC_000012.12:g.6663858_6663860del, NC_000012.12:g.6663859_6663860del, NC_000012.12:g.6663860del, NC_000012.12:g.6663860dup, NC_000012.12:g.6663859_6663860dup, NC_000012.12:g.6663858_6663860dup, NC_000012.12:g.6663857_6663860dup, NC_000012.12:g.6663855_6663860dup, NC_000012.12:g.6663860_6663861insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.6773022_6773026del, NC_000012.11:g.6773023_6773026del, NC_000012.11:g.6773024_6773026del, NC_000012.11:g.6773025_6773026del, NC_000012.11:g.6773026del, NC_000012.11:g.6773026dup, NC_000012.11:g.6773025_6773026dup, NC_000012.11:g.6773024_6773026dup, NC_000012.11:g.6773023_6773026dup, NC_000012.11:g.6773021_6773026dup, NC_000012.11:g.6773026_6773027insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047151.1:g.4303_4307del, NG_047151.1:g.4304_4307del, NG_047151.1:g.4305_4307del, NG_047151.1:g.4306_4307del, NG_047151.1:g.4307del, NG_047151.1:g.4307dup, NG_047151.1:g.4306_4307dup, NG_047151.1:g.4305_4307dup, NG_047151.1:g.4304_4307dup, NG_047151.1:g.4302_4307dup, NG_047151.1:g.4307_4308insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
4.
rs1491014732 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 12:6665258
(GRCh38)
12:6774424
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6665256:TGT:T
- Validated:
- by frequency,by alfa
- MAF:
T=0.00008/1
(
ALFA)
-=0.00216/5
(GnomAD)
- HGVS:
6.
rs1490882877 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 12:6659001
(GRCh38)
12:6768168
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6659001:AAA:AAAA
- Gene:
- ING4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490519268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:6650353
(GRCh38)
12:6759519
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6650352:G:C
- Gene:
- ING4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
NC_000012.12:g.6650353G>C, NC_000012.11:g.6759519G>C, NG_047151.1:g.17797C>G, NM_016162.4:c.*842C>G, NM_001127582.2:c.*842C>G, NM_001127583.2:c.*842C>G, NM_001127584.2:c.*842C>G, NM_001127585.2:c.*842C>G, NM_001127586.2:c.*904C>G, XM_011520965.4:c.*842C>G, XM_011520964.3:c.*842C>G, NM_198287.1:c.*1721C>G, XM_047428932.1:c.*842C>G, XM_047428931.1:c.*842C>G
9.
rs1490488429 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:6661575
(GRCh38)
12:6770741
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6661574:C:T
- Gene:
- ING4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490157019 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:6665355
(GRCh38)
12:6774521
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6665354:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1489999314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:6660721
(GRCh38)
12:6769887
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6660720:G:A
- Gene:
- ING4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000034/9
(TOPMED)
A=0.000043/6
(GnomAD)
- HGVS:
12.
rs1489978714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:6648983
(GRCh38)
12:6758149
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6648982:T:A
- Gene:
- ACRBP (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
13.
rs1489851903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:6657190
(GRCh38)
12:6766356
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6657189:C:T
- Gene:
- ING4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_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:
14.
rs1489569161 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:6658259
(GRCh38)
12:6767425
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6658258:C:T
- Gene:
- ING4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489339801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:6661954
(GRCh38)
12:6771120
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6661953:A:C
- Gene:
- ING4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
17.
rs1488714321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:6663260
(GRCh38)
12:6772426
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6663259:A:G
- Gene:
- ING4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1488427106 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:6662946
(GRCh38)
12:6772112
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6662945:A:G
- Gene:
- ING4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
19.
rs1488367507 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:6663735
(GRCh38)
12:6772901
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6663734:G:T
- Gene:
- ING4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
20.
rs1488200128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:6655323
(GRCh38)
12:6764489
(GRCh37)
- Canonical SPDI:
- NC_000012.12:6655322:C:T
- Gene:
- ING4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS: