Links from Gene
Items: 1 to 20 of 1000
1.
rs1491589168 has merged into rs751585996 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:45514520
(GRCh38)
15:45806718
(GRCh37)
- Canonical SPDI:
- NC_000015.10:45514510:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000015.10:45514510:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:45514510:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:45514510:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:45514510:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:45514510:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:45514510:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:45514510:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:45514510:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45514510:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45514510:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45514510:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45514510:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45514510:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45514510:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45514510:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC30A4 (Varview), HMGN2P46 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.45514520_45514532del, NC_000015.10:g.45514523_45514532del, NC_000015.10:g.45514524_45514532del, NC_000015.10:g.45514525_45514532del, NC_000015.10:g.45514526_45514532del, NC_000015.10:g.45514529_45514532del, NC_000015.10:g.45514530_45514532del, NC_000015.10:g.45514531_45514532del, NC_000015.10:g.45514532del, NC_000015.10:g.45514532dup, NC_000015.10:g.45514531_45514532dup, NC_000015.10:g.45514530_45514532dup, NC_000015.10:g.45514529_45514532dup, NC_000015.10:g.45514528_45514532dup, NC_000015.10:g.45514532_45514533insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.45514532_45514533insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.45806718_45806730del, NC_000015.9:g.45806721_45806730del, NC_000015.9:g.45806722_45806730del, NC_000015.9:g.45806723_45806730del, NC_000015.9:g.45806724_45806730del, NC_000015.9:g.45806727_45806730del, NC_000015.9:g.45806728_45806730del, NC_000015.9:g.45806729_45806730del, NC_000015.9:g.45806730del, NC_000015.9:g.45806730dup, NC_000015.9:g.45806729_45806730dup, NC_000015.9:g.45806728_45806730dup, NC_000015.9:g.45806727_45806730dup, NC_000015.9:g.45806726_45806730dup, NC_000015.9:g.45806730_45806731insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.45806730_45806731insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491589050 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 15:45482428
(GRCh38)
15:45774627
(GRCh37)
- Canonical SPDI:
- NC_000015.10:45482428::T
- Gene:
- SLC30A4 (Varview), LOC105376714 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491483056 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AG
[Show Flanks]
- Chromosome:
- 15:45487910
(GRCh38)
15:45780109
(GRCh37)
- Canonical SPDI:
- NC_000015.10:45487910:AG:AGAG
- Gene:
- SLC30A4 (Varview), LOC105376714 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0./0
(
ALFA)
AG=0.00004/3
(GnomAD)
AG=0.00047/3
(1000Genomes)
- HGVS:
4.
rs1491372432 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 15:45487910
(GRCh38)
15:45780108
(GRCh37)
- Canonical SPDI:
- NC_000015.10:45487909:AA:
- Gene:
- SLC30A4 (Varview), LOC105376714 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000035/4
(GnomAD)
- HGVS:
5.
rs1491371221 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 15:45492212
(GRCh38)
15:45784410
(GRCh37)
- Canonical SPDI:
- NC_000015.10:45492211:CA:
- Gene:
- SLC30A4 (Varview), LOC105376714 (Varview), LOC124903596 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000132/15
(GnomAD)
- HGVS:
7.
rs1491348952 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CC
[Show Flanks]
- Chromosome:
- 15:45514538
(GRCh38)
15:45806737
(GRCh37)
- Canonical SPDI:
- NC_000015.10:45514538::CC
- Gene:
- SLC30A4 (Varview), HMGN2P46 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0.000084/1
(
ALFA)
CC=0.000048/6
(GnomAD)
- HGVS:
8.
rs1491333235 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 15:45514540
(GRCh38)
15:45806738
(GRCh37)
- Canonical SPDI:
- NC_000015.10:45514537:AGAG:AG
- Gene:
- SLC30A4 (Varview), HMGN2P46 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAG=0./0
(
ALFA)
-=0.000055/6
(GnomAD)
- HGVS:
10.
rs1491273689 has merged into rs77966458 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAAATAAATAAATAAATAAA>-,TAAA,TAAATAAA,TAAATAAATAAA,TAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAATAAATAAATAAA
[Show Flanks]
- Chromosome:
- 15:45496858
(GRCh38)
15:45789056
(GRCh37)
- Canonical SPDI:
- NC_000015.10:45496836:ATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:ATAAATAAATAAATAAATAAA,NC_000015.10:45496836:ATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:ATAAATAAATAAATAAATAAATAAA,NC_000015.10:45496836:ATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:ATAAATAAATAAATAAATAAATAAATAAA,NC_000015.10:45496836:ATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:ATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000015.10:45496836:ATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:ATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000015.10:45496836:ATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:ATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000015.10:45496836:ATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:ATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000015.10:45496836:ATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:ATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000015.10:45496836:ATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:ATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA
- Gene:
- SLC30A4 (Varview), LOC105376714 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAAATAAATAAATAAATAAATAAA=0./0
(
ALFA)
ATAA=0.3341/1673
(1000Genomes)
- HGVS:
NC_000015.10:g.45496838TAAA[5], NC_000015.10:g.45496838TAAA[6], NC_000015.10:g.45496838TAAA[7], NC_000015.10:g.45496838TAAA[8], NC_000015.10:g.45496838TAAA[9], NC_000015.10:g.45496838TAAA[11], NC_000015.10:g.45496838TAAA[12], NC_000015.10:g.45496838TAAA[13], NC_000015.10:g.45496838TAAA[14], NC_000015.9:g.45789036TAAA[5], NC_000015.9:g.45789036TAAA[6], NC_000015.9:g.45789036TAAA[7], NC_000015.9:g.45789036TAAA[8], NC_000015.9:g.45789036TAAA[9], NC_000015.9:g.45789036TAAA[11], NC_000015.9:g.45789036TAAA[12], NC_000015.9:g.45789036TAAA[13], NC_000015.9:g.45789036TAAA[14]
11.
rs1491264191 has merged into rs1163243140 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAATCTGGAGAAAACCCAAAAGTCCACCCCAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:45492223
(GRCh38)
15:45784421
(GRCh37)
- Canonical SPDI:
- NC_000015.10:45492212:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:45492212:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:45492212:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:45492212:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:45492212:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:45492212:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:45492212:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:45492212:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:45492212:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45492212:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45492212:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45492212:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:45492212:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAATCTGGAGAAAACCCAAAAGTCCACCCCAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SLC30A4 (Varview), LOC105376714 (Varview), LOC124903596 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000015.10:g.45492223_45492231del, NC_000015.10:g.45492225_45492231del, NC_000015.10:g.45492226_45492231del, NC_000015.10:g.45492228_45492231del, NC_000015.10:g.45492229_45492231del, NC_000015.10:g.45492230_45492231del, NC_000015.10:g.45492231del, NC_000015.10:g.45492231dup, NC_000015.10:g.45492230_45492231dup, NC_000015.10:g.45492229_45492231dup, NC_000015.10:g.45492228_45492231dup, NC_000015.10:g.45492219_45492231dup, NC_000015.10:g.45492213_45492231A[20]TCTGGAGAAAACCCAAAAGTCCACCCCAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000015.9:g.45784421_45784429del, NC_000015.9:g.45784423_45784429del, NC_000015.9:g.45784424_45784429del, NC_000015.9:g.45784426_45784429del, NC_000015.9:g.45784427_45784429del, NC_000015.9:g.45784428_45784429del, NC_000015.9:g.45784429del, NC_000015.9:g.45784429dup, NC_000015.9:g.45784428_45784429dup, NC_000015.9:g.45784427_45784429dup, NC_000015.9:g.45784426_45784429dup, NC_000015.9:g.45784417_45784429dup, NC_000015.9:g.45784411_45784429A[20]TCTGGAGAAAACCCAAAAGTCCACCCCAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
12.
rs1491198556 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 15:45482056
(GRCh38)
15:45774254
(GRCh37)
- Canonical SPDI:
- NC_000015.10:45482055:TT:T,NC_000015.10:45482055:TT:TTT
- Gene:
- SLC30A4 (Varview), LOC105376714 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTT=0./0
(
ALFA)
-=0.00003/2
(GnomAD)
- HGVS:
NC_000015.10:g.45482057del, NC_000015.10:g.45482057dup, NC_000015.9:g.45774255del, NC_000015.9:g.45774255dup, NM_013309.6:c.*3107del, NM_013309.6:c.*3107dup, NM_013309.5:c.*3107del, NM_013309.5:c.*3107dup, XM_017022560.3:c.*3107del, XM_017022560.3:c.*3107dup, XM_017022560.1:c.*3107del, XM_017022560.1:c.*3107dup
15.
rs1490848489 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:45519068
(GRCh38)
15:45811266
(GRCh37)
- Canonical SPDI:
- NC_000015.10:45519067:A:C
- Gene:
- SLC30A4 (Varview), HMGN2P46 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490834676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:45486240
(GRCh38)
15:45778438
(GRCh37)
- Canonical SPDI:
- NC_000015.10:45486239:C:T
- Gene:
- SLC30A4 (Varview), LOC105376714 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,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:
17.
rs1490671681 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:45486941
(GRCh38)
15:45779139
(GRCh37)
- Canonical SPDI:
- NC_000015.10:45486940:G:A
- Gene:
- SLC30A4 (Varview), LOC105376714 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490547318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:45498203
(GRCh38)
15:45790401
(GRCh37)
- Canonical SPDI:
- NC_000015.10:45498202:T:C
- Gene:
- SLC30A4 (Varview), LOC105376714 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
19.
rs1490481528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:45511567
(GRCh38)
15:45803765
(GRCh37)
- Canonical SPDI:
- NC_000015.10:45511566:T:C
- Gene:
- SLC30A4 (Varview), HMGN2P46 (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: