Links from Gene
Items: 1 to 20 of 5101
1.
rs1491503346 has merged into rs71115933 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:73951991
(GRCh38)
14:74418694
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73951980:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:73951980:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:73951980:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:73951980:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:73951980:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:73951980:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:73951980:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:73951980:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:73951980:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73951980:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73951980:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73951980:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73951980:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73951980:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- COQ6 (Varview), FAM161B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.73951991_73952002del, NC_000014.9:g.73951992_73952002del, NC_000014.9:g.73951996_73952002del, NC_000014.9:g.73951997_73952002del, NC_000014.9:g.73951998_73952002del, NC_000014.9:g.73951999_73952002del, NC_000014.9:g.73952000_73952002del, NC_000014.9:g.73952001_73952002del, NC_000014.9:g.73952002del, NC_000014.9:g.73952002dup, NC_000014.9:g.73952001_73952002dup, NC_000014.9:g.73952000_73952002dup, NC_000014.9:g.73951999_73952002dup, NC_000014.9:g.73951998_73952002dup, NC_000014.8:g.74418694_74418705del, NC_000014.8:g.74418695_74418705del, NC_000014.8:g.74418699_74418705del, NC_000014.8:g.74418700_74418705del, NC_000014.8:g.74418701_74418705del, NC_000014.8:g.74418702_74418705del, NC_000014.8:g.74418703_74418705del, NC_000014.8:g.74418704_74418705del, NC_000014.8:g.74418705del, NC_000014.8:g.74418705dup, NC_000014.8:g.74418704_74418705dup, NC_000014.8:g.74418703_74418705dup, NC_000014.8:g.74418702_74418705dup, NC_000014.8:g.74418701_74418705dup, NG_032805.1:g.7058_7069del, NG_032805.1:g.7059_7069del, NG_032805.1:g.7063_7069del, NG_032805.1:g.7064_7069del, NG_032805.1:g.7065_7069del, NG_032805.1:g.7066_7069del, NG_032805.1:g.7067_7069del, NG_032805.1:g.7068_7069del, NG_032805.1:g.7069del, NG_032805.1:g.7069dup, NG_032805.1:g.7068_7069dup, NG_032805.1:g.7067_7069dup, NG_032805.1:g.7066_7069dup, NG_032805.1:g.7065_7069dup
2.
rs1491211931 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 14:73933839
(GRCh38)
14:74400542
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73933836:TCTC:TC
- Gene:
- FAM161B (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491202164 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:73951980
(GRCh38)
14:74418683
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73951979:CA:
- Gene:
- COQ6 (Varview), FAM161B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00388/46
(
ALFA)
-=0.00225/36
(TOMMO)
- HGVS:
4.
rs1491019547 has merged into rs11421857 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 14:73935556
(GRCh38)
14:74402259
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73935548:AAAAAAAAAAA:AAAAAAA,NC_000014.9:73935548:AAAAAAAAAAA:AAAAAAAA,NC_000014.9:73935548:AAAAAAAAAAA:AAAAAAAAA,NC_000014.9:73935548:AAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:73935548:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:73935548:AAAAAAAAAAA:AAAAAAAAAAAAA
- Gene:
- FAM161B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4345/2176
(1000Genomes)
- HGVS:
NC_000014.9:g.73935556_73935559del, NC_000014.9:g.73935557_73935559del, NC_000014.9:g.73935558_73935559del, NC_000014.9:g.73935559del, NC_000014.9:g.73935559dup, NC_000014.9:g.73935558_73935559dup, NC_000014.8:g.74402259_74402262del, NC_000014.8:g.74402260_74402262del, NC_000014.8:g.74402261_74402262del, NC_000014.8:g.74402262del, NC_000014.8:g.74402262dup, NC_000014.8:g.74402261_74402262dup
5.
rs1490861780 has merged into rs148637004 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGCCTGGAGCATGGCACA>-,GTGCCTGGAGCATGGCACAGTGCCTGGAGCATGGCACA
[Show Flanks]
- Chromosome:
- 14:73943829
(GRCh38)
14:74410532
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73943819:CATGGCACAGTGCCTGGAGCATGGCACA:CATGGCACA,NC_000014.9:73943819:CATGGCACAGTGCCTGGAGCATGGCACA:CATGGCACAGTGCCTGGAGCATGGCACAGTGCCTGGAGCATGGCACA
- Gene:
- FAM161B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CATGGCACAGTGCCTGGAGCATGGCACAGTGCCTGGAGCATGGCACA=0.001565/28
(
ALFA)
-=0.000008/2
(TOPMED)
CATGGCACAGTGCCTGGAG=0.005/3
(NorthernSweden)
CATGGCACAGTGCCTGGAG=0.00625/28
(Estonian)
CATGGCACAGTGCCTGGAG=0.009279/17
(Korea1K)
CATGGCACAGTGCCTGGAG=0.010687/179
(TOMMO)
CATGGCACAGTGCCTGGAG=0.04138/207
(1000Genomes)
- HGVS:
7.
rs1490780587 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:73937402
(GRCh38)
14:74404105
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73937401:T:G
- Gene:
- FAM161B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
8.
rs1490584859 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:73951663
(GRCh38)
14:74418366
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73951662:T:G
- Gene:
- COQ6 (Varview), FAM161B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
9.
rs1489819391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:73935330
(GRCh38)
14:74402033
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73935329:A:C
- Gene:
- FAM161B (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:
10.
rs1489649217 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:73940605
(GRCh38)
14:74407308
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73940604:C:T
- Gene:
- FAM161B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1489443822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:73933883
(GRCh38)
14:74400586
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73933882:G:A
- Gene:
- FAM161B (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000094/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
12.
rs1489314269 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:73932596
(GRCh38)
14:74399299
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73932595:G:A,NC_000014.9:73932595:G:C
- Gene:
- ZNF410 (Varview), FAM161B (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
C=0.000049/13
(TOPMED)
- HGVS:
13.
rs1489223147 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:73936476
(GRCh38)
14:74403179
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73936475:T:G
- Gene:
- FAM161B (Varview)
- Functional Consequence:
- 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:
15.
rs1489059811 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:73941238
(GRCh38)
14:74407941
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73941237:C:T
- Gene:
- FAM161B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
16.
rs1488931913 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:73951039
(GRCh38)
14:74417742
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73951038:C:G
- Gene:
- COQ6 (Varview), FAM161B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
17.
rs1488847073 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:73940752
(GRCh38)
14:74407455
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73940751:C:T
- Gene:
- FAM161B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
18.
rs1488827436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:73940427
(GRCh38)
14:74407130
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73940426:C:G
- Gene:
- FAM161B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1488582126 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:73948896
(GRCh38)
14:74415599
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73948895:G:A
- Gene:
- COQ6 (Varview), FAM161B (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS: