Links from Gene
Items: 1 to 20 of 16778
1.
rs1491549655 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 15:100405258
(GRCh38)
15:100945463
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100405257:AC:
- Gene:
- CERS3 (Varview), CERS3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000037/5
(GnomAD)
- HGVS:
2.
rs1491474464 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 15:100438036
(GRCh38)
15:100978241
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100438035:CT:
- Gene:
- CERS3 (Varview), CERS3-AS1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00003/2
(GnomAD)
- HGVS:
6.
rs1491230471 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 15:100423096
(GRCh38)
15:100963301
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100423095:AT:
- Gene:
- CERS3 (Varview), CERS3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000044/6
(GnomAD)
- HGVS:
7.
rs1491151244 has merged into rs55792026 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:100392355
(GRCh38)
15:100932560
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CERS3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000015.10:g.100392355_100392365del, NC_000015.10:g.100392357_100392365del, NC_000015.10:g.100392358_100392365del, NC_000015.10:g.100392359_100392365del, NC_000015.10:g.100392360_100392365del, NC_000015.10:g.100392361_100392365del, NC_000015.10:g.100392362_100392365del, NC_000015.10:g.100392363_100392365del, NC_000015.10:g.100392364_100392365del, NC_000015.10:g.100392365del, NC_000015.10:g.100392365dup, NC_000015.10:g.100392364_100392365dup, NC_000015.10:g.100392363_100392365dup, NC_000015.10:g.100392362_100392365dup, NC_000015.10:g.100392361_100392365dup, NC_000015.10:g.100392360_100392365dup, NC_000015.10:g.100392359_100392365dup, NC_000015.10:g.100392358_100392365dup, NC_000015.10:g.100392357_100392365dup, NC_000015.10:g.100392344_100392365dup, NC_000015.9:g.100932560_100932570del, NC_000015.9:g.100932562_100932570del, NC_000015.9:g.100932563_100932570del, NC_000015.9:g.100932564_100932570del, NC_000015.9:g.100932565_100932570del, NC_000015.9:g.100932566_100932570del, NC_000015.9:g.100932567_100932570del, NC_000015.9:g.100932568_100932570del, NC_000015.9:g.100932569_100932570del, NC_000015.9:g.100932570del, NC_000015.9:g.100932570dup, NC_000015.9:g.100932569_100932570dup, NC_000015.9:g.100932568_100932570dup, NC_000015.9:g.100932567_100932570dup, NC_000015.9:g.100932566_100932570dup, NC_000015.9:g.100932565_100932570dup, NC_000015.9:g.100932564_100932570dup, NC_000015.9:g.100932563_100932570dup, NC_000015.9:g.100932562_100932570dup, NC_000015.9:g.100932549_100932570dup
9.
rs1491131782 has merged into rs56131548 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 15:100413784
(GRCh38)
15:100953989
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100413773:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:100413773:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:100413773:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:100413773:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:100413773:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:100413773:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:100413773:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- CERS3 (Varview), CERS3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.3413/1709
(1000Genomes)
- HGVS:
NC_000015.10:g.100413784_100413786del, NC_000015.10:g.100413785_100413786del, NC_000015.10:g.100413786del, NC_000015.10:g.100413786dup, NC_000015.10:g.100413785_100413786dup, NC_000015.10:g.100413784_100413786dup, NC_000015.10:g.100413783_100413786dup, NC_000015.9:g.100953989_100953991del, NC_000015.9:g.100953990_100953991del, NC_000015.9:g.100953991del, NC_000015.9:g.100953991dup, NC_000015.9:g.100953990_100953991dup, NC_000015.9:g.100953989_100953991dup, NC_000015.9:g.100953988_100953991dup, NG_042826.1:g.135945_135947del, NG_042826.1:g.135946_135947del, NG_042826.1:g.135947del, NG_042826.1:g.135947dup, NG_042826.1:g.135946_135947dup, NG_042826.1:g.135945_135947dup, NG_042826.1:g.135944_135947dup
10.
rs1491066159 has merged into rs58505884 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 15:100376305
(GRCh38)
15:100916510
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100376295:TTTTTTTTTTT:TTTTTTTTT,NC_000015.10:100376295:TTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:100376295:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:100376295:TTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- CERS3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.0283/6
(Vietnamese)
T=0.04/154
(ALSPAC)
T=0.0488/181
(TWINSUK)
T=0.0567/34
(NorthernSweden)
T=0.1/4
(GENOME_DK)
T=0.1145/564
(1000Genomes)
- HGVS:
11.
rs1491065030 has merged into rs34810954 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGT>-,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 15:100386852
(GRCh38)
15:100927057
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100386846:TGTGTGTGTGTGT:TGTGT,NC_000015.10:100386846:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000015.10:100386846:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000015.10:100386846:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT
- Gene:
- CERS3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
TG=0.277356/1242
(Estonian)
TG=0.288333/173
(NorthernSweden)
- HGVS:
12.
rs1491022682 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 15:100405249
(GRCh38)
15:100945454
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100405247:ACA:A
- Gene:
- CERS3 (Varview), CERS3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.0032/38
(
ALFA)
-=0.0079/282
(GnomAD)
- HGVS:
13.
rs1490931586 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:100383621
(GRCh38)
15:100923826
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100383620:G:C
- Gene:
- CERS3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490926528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:100405089
(GRCh38)
15:100945294
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100405088:C:T
- Gene:
- CERS3 (Varview), CERS3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
15.
rs1490878896 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:100397226
(GRCh38)
15:100937431
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100397225:C:T
- Gene:
- CERS3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000156/1
(1000Genomes)
T=0.000318/5
(TOMMO)
T=0.000546/1
(Korea1K)
- HGVS:
16.
rs1490826921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:100434033
(GRCh38)
15:100974238
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100434032:C:G
- Gene:
- CERS3 (Varview), CERS3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000084/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490758255 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 15:100417798
(GRCh38)
15:100958003
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100417797:G:A,NC_000015.10:100417797:G:C
- Gene:
- CERS3 (Varview), CERS3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490690863 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:100428534
(GRCh38)
15:100968739
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100428533:C:T
- Gene:
- CERS3 (Varview), CERS3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490653969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:100385193
(GRCh38)
15:100925398
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100385192:C:T
- Gene:
- CERS3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: