Links from Gene
Items: 1 to 20 of 1000
1.
rs1491564833 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:27256226
(GRCh38)
2:27479094
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27256225:AT:
- Gene:
- SLC30A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000057/8
(GnomAD)
-=0.000117/31
(TOPMED)
- HGVS:
2.
rs1491487202 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 2:27256241
(GRCh38)
2:27479110
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27256241:A:AA
- Gene:
- SLC30A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491409662 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:27256242
(GRCh38)
2:27479110
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27256240:TAT:T
- Gene:
- SLC30A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490987820 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 2:27274717
(GRCh38)
2:27497585
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27274716:A:G,NC_000002.12:27274716:A:T
- Gene:
- SLC30A3 (Varview), DNAJC5G (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490749731 has merged into rs1237606332 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 2:27266073
(GRCh38)
2:27488941
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27266060:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:27266060:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:27266060:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:27266060:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:27266060:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:27266060:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:27266060:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- SLC30A3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.27266073_27266076del, NC_000002.12:g.27266074_27266076del, NC_000002.12:g.27266075_27266076del, NC_000002.12:g.27266076del, NC_000002.12:g.27266076dup, NC_000002.12:g.27266075_27266076dup, NC_000002.12:g.27266074_27266076dup, NC_000002.11:g.27488941_27488944del, NC_000002.11:g.27488942_27488944del, NC_000002.11:g.27488943_27488944del, NC_000002.11:g.27488944del, NC_000002.11:g.27488944dup, NC_000002.11:g.27488943_27488944dup, NC_000002.11:g.27488942_27488944dup
6.
rs1490693466 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:27266185
(GRCh38)
2:27489053
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27266184:A:G
- Gene:
- SLC30A3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490600349 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:27275862
(GRCh38)
2:27498730
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27275861:C:T
- Gene:
- SLC30A3 (Varview), DNAJC5G (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000029/3
(GnomAD)
- HGVS:
8.
rs1490553793 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:27275366
(GRCh38)
2:27498234
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27275365:C:T
- Gene:
- SLC30A3 (Varview), DNAJC5G (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.00003/8
(TOPMED)
- HGVS:
9.
rs1490524873 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:27275308
(GRCh38)
2:27498176
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27275307:T:G
- Gene:
- SLC30A3 (Varview), DNAJC5G (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000002.12:g.27275308T>G, NC_000002.11:g.27498176T>G, XM_005264548.4:c.-125A>C, XM_005264548.3:c.-125A>C, XM_005264548.2:c.-125A>C, XM_005264548.1:c.-125A>C, NM_001318949.2:c.-125A>C, NM_001318949.1:c.-125A>C, NM_001318951.2:c.-76A>C, NM_001318951.1:c.-76A>C, XM_017004873.2:c.-76A>C, XM_017004873.1:c.-76A>C, XM_047445787.1:c.-125A>C
10.
rs1490433694 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 2:27259174
(GRCh38)
2:27482043
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27259174:A:AA
- Gene:
- SLC30A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0.000084/1
(
ALFA)
A=0.000043/6
(GnomAD)
A=0.000136/36
(TOPMED)
- HGVS:
11.
rs1490422657 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:27262132
(GRCh38)
2:27485000
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27262131:C:T
- Gene:
- SLC30A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
13.
rs1490203828 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:27265581
(GRCh38)
2:27488449
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27265580:G:A
- Gene:
- SLC30A3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490059936 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:27274849
(GRCh38)
2:27497717
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27274848:T:C
- Gene:
- SLC30A3 (Varview), DNAJC5G (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490036822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:27257490
(GRCh38)
2:27480358
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27257489:C:G,NC_000002.12:27257489:C:T
- Gene:
- SLC30A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000066/1
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000223/1
(Estonian)
- HGVS:
16.
rs1490003777 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:27273832
(GRCh38)
2:27496700
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27273831:G:A
- Gene:
- SLC30A3 (Varview), DNAJC5G (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_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:
17.
rs1489949362 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:27258712
(GRCh38)
2:27481580
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27258711:G:A
- Gene:
- SLC30A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1489879940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:27260480
(GRCh38)
2:27483348
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27260479:T:C
- Gene:
- SLC30A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489648422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:27273716
(GRCh38)
2:27496584
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27273715:C:T
- Gene:
- SLC30A3 (Varview), DNAJC5G (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1489495888 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:27269773
(GRCh38)
2:27492641
(GRCh37)
- Canonical SPDI:
- NC_000002.12:27269772:G:A,NC_000002.12:27269772:G:T
- Gene:
- SLC30A3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: