Links from Gene
Items: 1 to 20 of 626
1.
rs1491027462 has merged into rs527397877 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:31014823
(GRCh38)
14:31484029
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31014813:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:31014813:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:31014813:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:31014813:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:31014813:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:31014813:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:31014813:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.125/5
(GENOME_DK)
- HGVS:
NC_000014.9:g.31014823_31014830del, NC_000014.9:g.31014827_31014830del, NC_000014.9:g.31014829_31014830del, NC_000014.9:g.31014830del, NC_000014.9:g.31014830dup, NC_000014.9:g.31014829_31014830dup, NC_000014.9:g.31014828_31014830dup, NC_000014.8:g.31484029_31484036del, NC_000014.8:g.31484033_31484036del, NC_000014.8:g.31484035_31484036del, NC_000014.8:g.31484036del, NC_000014.8:g.31484036dup, NC_000014.8:g.31484035_31484036dup, NC_000014.8:g.31484034_31484036dup
2.
rs1489784341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:31015819
(GRCh38)
14:31485025
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31015818:G:A
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,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:
3.
rs1488108335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:31015944
(GRCh38)
14:31485150
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31015943:G:A
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
4.
rs1487974130 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:31014972
(GRCh38)
14:31484178
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31014971:C:T
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000342/1
(KOREAN)
- HGVS:
5.
rs1487840995 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:31016358
(GRCh38)
14:31485564
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31016357:G:A
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,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:
6.
rs1486469717 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:31015492
(GRCh38)
14:31484698
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31015491:C:A
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
7.
rs1485862649 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:31014191
(GRCh38)
14:31483397
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31014190:C:T
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
8.
rs1485036744 has merged into rs371021241 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 14:31015059
(GRCh38)
14:31484265
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31015058:CC:C
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.000071/1
(
ALFA)
-=0.000114/16
(GnomAD)
-=0.00014/37
(TOPMED)
-=0.000312/2
(1000Genomes)
- HGVS:
9.
rs1483364780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:31014826
(GRCh38)
14:31484032
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31014825:A:C
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
11.
rs1477509779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:31016005
(GRCh38)
14:31485211
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31016004:A:T
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
A=0.5/1
(SGDP_PRJ)
- HGVS:
12.
rs1476176331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 14:31015945
(GRCh38)
14:31485151
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31015944:C:G,NC_000014.9:31015944:C:T
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000239/4
(TOMMO)
- HGVS:
13.
rs1475872229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:31015575
(GRCh38)
14:31484781
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31015574:G:A
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
14.
rs1475195036 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:31014839
(GRCh38)
14:31484045
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31014838:C:G
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1472768209 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:31014675
(GRCh38)
14:31483881
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31014674:T:C
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000028/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1470916319 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TACAC
[Show Flanks]
- Chromosome:
- 14:31014652
(GRCh38)
14:31483859
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31014652::TACAC
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TACAC=0./0
(
ALFA)
TACAC=0.000014/2
(GnomAD)
TACAC=0.000019/5
(TOPMED)
- HGVS:
17.
rs1470076596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:31014862
(GRCh38)
14:31484068
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31014861:C:A
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1469633446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:31015599
(GRCh38)
14:31484805
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31015598:C:T
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1466898771 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:31016668
(GRCh38)
14:31485874
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31016667:C:G
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1466131760 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:31015561
(GRCh38)
14:31484767
(GRCh37)
- Canonical SPDI:
- NC_000014.9:31015560:C:A
- Gene:
- STRN3 (Varview), MIR624 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: