Links from Gene
Items: 1 to 20 of 14701
2.
rs1491483630 has merged into rs35612117 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:69446877
(GRCh38)
14:69913594
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAA,NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69446873:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SLC39A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.69446877_69446889del, NC_000014.9:g.69446883_69446889del, NC_000014.9:g.69446884_69446889del, NC_000014.9:g.69446886_69446889del, NC_000014.9:g.69446887_69446889del, NC_000014.9:g.69446888_69446889del, NC_000014.9:g.69446889del, NC_000014.9:g.69446889dup, NC_000014.9:g.69446888_69446889dup, NC_000014.9:g.69446887_69446889dup, NC_000014.9:g.69446886_69446889dup, NC_000014.9:g.69446885_69446889dup, NC_000014.9:g.69446884_69446889dup, NC_000014.9:g.69446883_69446889dup, NC_000014.9:g.69446882_69446889dup, NC_000014.9:g.69446889_69446890insAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.69446889_69446890insAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.69446889_69446890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.69913594_69913606del, NC_000014.8:g.69913600_69913606del, NC_000014.8:g.69913601_69913606del, NC_000014.8:g.69913603_69913606del, NC_000014.8:g.69913604_69913606del, NC_000014.8:g.69913605_69913606del, NC_000014.8:g.69913606del, NC_000014.8:g.69913606dup, NC_000014.8:g.69913605_69913606dup, NC_000014.8:g.69913604_69913606dup, NC_000014.8:g.69913603_69913606dup, NC_000014.8:g.69913602_69913606dup, NC_000014.8:g.69913601_69913606dup, NC_000014.8:g.69913600_69913606dup, NC_000014.8:g.69913599_69913606dup, NC_000014.8:g.69913606_69913607insAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.69913606_69913607insAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.69913606_69913607insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491077197 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 14:69449640
(GRCh38)
14:69916357
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69449632:AGAGAGAGA:AGAGAGA
- Gene:
- SLC39A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGA=0.000071/1
(
ALFA)
-=0.000029/4
(GnomAD)
-=0.000057/15
(TOPMED)
- HGVS:
4.
rs1491039875 has merged into rs35337440 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:69411221
(GRCh38)
14:69877938
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69411211:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:69411211:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:69411211:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:69411211:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:69411211:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:69411211:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:69411211:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:69411211:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:69411211:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69411211:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69411211:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69411211:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69411211:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SLC39A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.1412/707
(1000Genomes)
A=0.4/16
(GENOME_DK)
- HGVS:
NC_000014.9:g.69411221_69411232del, NC_000014.9:g.69411224_69411232del, NC_000014.9:g.69411226_69411232del, NC_000014.9:g.69411227_69411232del, NC_000014.9:g.69411229_69411232del, NC_000014.9:g.69411230_69411232del, NC_000014.9:g.69411231_69411232del, NC_000014.9:g.69411232del, NC_000014.9:g.69411232dup, NC_000014.9:g.69411231_69411232dup, NC_000014.9:g.69411230_69411232dup, NC_000014.9:g.69411229_69411232dup, NC_000014.9:g.69411227_69411232dup, NC_000014.8:g.69877938_69877949del, NC_000014.8:g.69877941_69877949del, NC_000014.8:g.69877943_69877949del, NC_000014.8:g.69877944_69877949del, NC_000014.8:g.69877946_69877949del, NC_000014.8:g.69877947_69877949del, NC_000014.8:g.69877948_69877949del, NC_000014.8:g.69877949del, NC_000014.8:g.69877949dup, NC_000014.8:g.69877948_69877949dup, NC_000014.8:g.69877947_69877949dup, NC_000014.8:g.69877946_69877949dup, NC_000014.8:g.69877944_69877949dup
5.
rs1491033849 has merged into rs201254745 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:69397464
(GRCh38)
14:69864181
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:69397452:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- ERH (Varview), SLC39A9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.02397/14
(NorthernSweden)
-=0.09185/460
(1000Genomes)
-=0.15906/613
(ALSPAC)
-=0.17611/653
(TWINSUK)
- HGVS:
NC_000014.9:g.69397464_69397466del, NC_000014.9:g.69397465_69397466del, NC_000014.9:g.69397466del, NC_000014.9:g.69397466dup, NC_000014.9:g.69397465_69397466dup, NC_000014.9:g.69397464_69397466dup, NC_000014.9:g.69397463_69397466dup, NC_000014.9:g.69397462_69397466dup, NC_000014.9:g.69397461_69397466dup, NC_000014.9:g.69397460_69397466dup, NC_000014.8:g.69864181_69864183del, NC_000014.8:g.69864182_69864183del, NC_000014.8:g.69864183del, NC_000014.8:g.69864183dup, NC_000014.8:g.69864182_69864183dup, NC_000014.8:g.69864181_69864183dup, NC_000014.8:g.69864180_69864183dup, NC_000014.8:g.69864179_69864183dup, NC_000014.8:g.69864178_69864183dup, NC_000014.8:g.69864177_69864183dup
6.
rs1491024572 has merged into rs566604917 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAG>-,AG,AGAGAG
[Show Flanks]
- Chromosome:
- 14:69453539
(GRCh38)
14:69920256
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69453532:AGAGAGAGAG:AGAGAG,NC_000014.9:69453532:AGAGAGAGAG:AGAGAGAG,NC_000014.9:69453532:AGAGAGAGAG:AGAGAGAGAGAG
- Gene:
- SLC39A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAG=0./0
(
ALFA)
-=0.000106/2
(TOMMO)
-=0.000546/1
(Korea1K)
-=0.002004/2
(GoNL)
-=0.002198/11
(1000Genomes)
-=0.004401/1165
(TOPMED)
-=0.008303/32
(ALSPAC)
-=0.0089/33
(TWINSUK)
-=0.025/15
(NorthernSweden)
- HGVS:
7.
rs1490924905 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:69403794
(GRCh38)
14:69870511
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69403793:A:G
- Gene:
- SLC39A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490824530 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:69417562
(GRCh38)
14:69884279
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69417561:G:A
- Gene:
- SLC39A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000094/1
(
ALFA)
A=0./0
(GnomAD)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490743029 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:69410815
(GRCh38)
14:69877532
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69410814:G:A
- Gene:
- SLC39A9 (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=0.000035/1
(TOMMO)
- HGVS:
10.
rs1490724513 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:69396396
(GRCh38)
14:69863113
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69396395:G:A
- Gene:
- ERH (Varview), SLC39A9 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
11.
rs1490676803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 14:69448979
(GRCh38)
14:69915696
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69448978:G:C,NC_000014.9:69448978:G:T
- Gene:
- SLC39A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
12.
rs1490541642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:69430183
(GRCh38)
14:69896900
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69430182:C:A
- Gene:
- SLC39A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490531877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:69397520
(GRCh38)
14:69864237
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69397519:T:C
- Gene:
- ERH (Varview), SLC39A9 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490515695 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:69423916
(GRCh38)
14:69890633
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69423915:T:A
- Gene:
- SLC39A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490502906 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:69444617
(GRCh38)
14:69911334
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69444616:A:G
- Gene:
- SLC39A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
G=0.000177/3
(TOMMO)
G=0.000546/1
(Korea1K)
G=0.001369/4
(KOREAN)
- HGVS:
17.
rs1490387432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:69457453
(GRCh38)
14:69924170
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69457452:G:A
- Gene:
- SLC39A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490217135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:69411012
(GRCh38)
14:69877729
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69411011:G:A
- Gene:
- SLC39A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000106/2
(TOMMO)
A=0.000684/2
(KOREAN)
A=0.001638/3
(Korea1K)
- HGVS:
19.
rs1490142851 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:69426959
(GRCh38)
14:69893676
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69426958:A:G
- Gene:
- SLC39A9 (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)
G=0.000035/1
(TOMMO)
- HGVS:
20.
rs1490119681 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:69442372
(GRCh38)
14:69909089
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69442371:A:C
- Gene:
- SLC39A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: