Links from Gene
Items: 1 to 20 of 3025
1.
rs1491053492 has merged into rs138016226 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:165705549
(GRCh38)
1:165674786
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC440700 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.165705549_165705563del, NC_000001.11:g.165705551_165705563del, NC_000001.11:g.165705552_165705563del, NC_000001.11:g.165705553_165705563del, NC_000001.11:g.165705556_165705563del, NC_000001.11:g.165705558_165705563del, NC_000001.11:g.165705561_165705563del, NC_000001.11:g.165705562_165705563del, NC_000001.11:g.165705563del, NC_000001.11:g.165705563dup, NC_000001.11:g.165705562_165705563dup, NC_000001.11:g.165705561_165705563dup, NC_000001.11:g.165705560_165705563dup, NC_000001.11:g.165705559_165705563dup, NC_000001.11:g.165705558_165705563dup, NC_000001.11:g.165705552_165705563dup, NC_000001.11:g.165705548_165705563dup, NC_000001.10:g.165674786_165674800del, NC_000001.10:g.165674788_165674800del, NC_000001.10:g.165674789_165674800del, NC_000001.10:g.165674790_165674800del, NC_000001.10:g.165674793_165674800del, NC_000001.10:g.165674795_165674800del, NC_000001.10:g.165674798_165674800del, NC_000001.10:g.165674799_165674800del, NC_000001.10:g.165674800del, NC_000001.10:g.165674800dup, NC_000001.10:g.165674799_165674800dup, NC_000001.10:g.165674798_165674800dup, NC_000001.10:g.165674797_165674800dup, NC_000001.10:g.165674796_165674800dup, NC_000001.10:g.165674795_165674800dup, NC_000001.10:g.165674789_165674800dup, NC_000001.10:g.165674785_165674800dup
2.
rs1490924825 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 1:165705539
(GRCh38)
1:165674776
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165705538:T:A,NC_000001.11:165705538:T:C
- Gene:
- LOC440700 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00017/2
(
ALFA)
A=0.05802/170
(KOREAN)
- HGVS:
3.
rs1490649605 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:165704460
(GRCh38)
1:165673697
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165704459:C:A,NC_000001.11:165704459:C:T
- Gene:
- LOC440700 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490460322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:165706101
(GRCh38)
1:165675338
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165706100:A:G
- Gene:
- LOC440700 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490361740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:165699413
(GRCh38)
1:165668650
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165699412:T:G
- Gene:
- ALDH9A1 (Varview), LOC440700 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490031656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:165698592
(GRCh38)
1:165667829
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165698591:C:T
- Gene:
- ALDH9A1 (Varview), LOC440700 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_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.
rs1489885937 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:165701351
(GRCh38)
1:165670588
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165701350:T:C
- Gene:
- LOC440700 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
8.
rs1489736608 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:165708075
(GRCh38)
1:165677312
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165708074:C:A
- Gene:
- LOC440700 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000045/12
(TOPMED)
A=0.000086/12
(GnomAD)
- HGVS:
10.
rs1489020988 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:165706684
(GRCh38)
1:165675921
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165706683:C:T
- Gene:
- LOC440700 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1488966733 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:165700538
(GRCh38)
1:165669775
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165700537:T:C
- Gene:
- ALDH9A1 (Varview), LOC440700 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1488909175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:165709409
(GRCh38)
1:165678646
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165709408:T:C
- Gene:
- LOC440700 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1488884744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:165708896
(GRCh38)
1:165678133
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165708895:A:C
- Gene:
- LOC440700 (Varview)
- Functional Consequence:
- 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:
14.
rs1488606944 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:165697848
(GRCh38)
1:165667085
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165697847:C:A
- Gene:
- ALDH9A1 (Varview), LOC440700 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1488173649 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:165708814
(GRCh38)
1:165678051
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165708813:T:G
- Gene:
- LOC440700 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1488106089 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:165703632
(GRCh38)
1:165672869
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165703631:G:C
- Gene:
- LOC440700 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
17.
rs1487699584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:165700687
(GRCh38)
1:165669924
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165700686:A:G
- Gene:
- LOC440700 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
- HGVS:
18.
rs1487680477 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:165704264
(GRCh38)
1:165673501
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165704263:C:T
- Gene:
- LOC440700 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1487253637 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GGTGGAGTTTG>-
[Show Flanks]
- Chromosome:
- 1:165705464
(GRCh38)
1:165674701
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165705463:GGTGGAGTTTG:
- Gene:
- LOC440700 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000015/2
(GnomAD)
- HGVS:
20.
rs1487194144 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:165708374
(GRCh38)
1:165677611
(GRCh37)
- Canonical SPDI:
- NC_000001.11:165708373:G:A
- Gene:
- LOC440700 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000071/2
(TOMMO)
- HGVS: