Links from Gene
Items: 1 to 20 of 1000
1.
rs1491332998 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 2:97730690
(GRCh38)
2:98347153
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97730688:TGT:T
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
-=0.000064/9
(GnomAD)
-=0.000204/54
(TOPMED)
-=0.000599/3
(1000Genomes)
- HGVS:
2.
rs1491025341 has merged into rs534883145 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC
[Show Flanks]
- Chromosome:
- 2:97740185
(GRCh38)
2:98356648
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97740179:CCCCCCC:CCCCC,NC_000002.12:97740179:CCCCCCC:CCCCCC,NC_000002.12:97740179:CCCCCCC:CCCCCCCC
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCC=0./0
(
ALFA)
-=0.001998/10
(1000Genomes)
-=0.002335/9
(ALSPAC)
-=0.002427/9
(TWINSUK)
-=0.002679/12
(Estonian)
-=0.003006/3
(GoNL)
-=0.003453/914
(TOPMED)
- HGVS:
NC_000002.12:g.97740185_97740186del, NC_000002.12:g.97740186del, NC_000002.12:g.97740186dup, NC_000002.11:g.98356648_98356649del, NC_000002.11:g.98356649del, NC_000002.11:g.98356649dup, NG_007727.1:g.31618_31619del, NG_007727.1:g.31619del, NG_007727.1:g.31619dup, NW_025791765.1:g.666216_666217del, NW_025791765.1:g.666217del, NW_025791765.1:g.666217dup
3.
rs1490917650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:97731354
(GRCh38)
2:98347817
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97731353:G:A
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_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:
4.
rs1490825996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:97723287
(GRCh38)
2:98339750
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97723286:G:A
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- intron_variant,genic_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:
5.
rs1490616294 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 2:97738833
(GRCh38)
2:98355296
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97738832:C:A,NC_000002.12:97738832:C:T
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490601314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:97737793
(GRCh38)
2:98354256
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97737792:G:A
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
NC_000002.12:g.97737793G>A, NC_000002.11:g.98354256G>A, NG_007727.1:g.29226G>A, NM_001079.4:c.1519G>A, NM_001079.3:c.1519G>A, NM_207519.2:c.598G>A, NM_207519.1:c.598G>A, NM_001378594.1:c.1519G>A, NW_025791765.1:g.663824G>A, XM_047445775.1:c.1519G>A, XM_047445776.1:c.1501G>A, XR_007081582.1:n.1718G>A, XR_007081583.1:n.1718G>A, XM_047445774.1:c.1501G>A, NP_001070.2:p.Ala507Thr, NP_997402.1:p.Ala200Thr, NP_001365523.1:p.Ala507Thr, XP_047301731.1:p.Ala507Thr, XP_047301732.1:p.Ala501Thr, XP_047301730.1:p.Ala501Thr
7.
rs1490527458 has merged into rs1462513008 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 2:97721795
(GRCh38)
2:98338258
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97721785:TTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:97721785:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:97721785:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:97721785:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:97721785:TTTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.97721795_97721797del, NC_000002.12:g.97721796_97721797del, NC_000002.12:g.97721797del, NC_000002.12:g.97721797dup, NC_000002.12:g.97721796_97721797dup, NC_000002.11:g.98338258_98338260del, NC_000002.11:g.98338259_98338260del, NC_000002.11:g.98338260del, NC_000002.11:g.98338260dup, NC_000002.11:g.98338259_98338260dup, NG_007727.1:g.13228_13230del, NG_007727.1:g.13229_13230del, NG_007727.1:g.13230del, NG_007727.1:g.13230dup, NG_007727.1:g.13229_13230dup, NW_025791765.1:g.647826_647828del, NW_025791765.1:g.647827_647828del, NW_025791765.1:g.647828del, NW_025791765.1:g.647828dup, NW_025791765.1:g.647827_647828dup
8.
rs1490454613 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:97716488
(GRCh38)
2:98332951
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97716487:G:C
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490270589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:97714856
(GRCh38)
2:98331319
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97714855:T:G
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- intron_variant,genic_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:
11.
rs1490208855 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:97734538
(GRCh38)
2:98351001
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97734537:A:G
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000008/2
(GnomAD_exomes)
- HGVS:
NC_000002.12:g.97734538A>G, NC_000002.11:g.98351001A>G, NG_007727.1:g.25971A>G, NM_001079.4:c.908A>G, NM_001079.3:c.908A>G, NM_207519.2:c.-14A>G, NM_207519.1:c.-14A>G, NM_001378594.1:c.908A>G, NW_025791765.1:g.660569A>G, XM_047445775.1:c.908A>G, XM_047445776.1:c.890A>G, XR_007081582.1:n.1107A>G, XR_007081583.1:n.1107A>G, XM_047445774.1:c.890A>G, NP_001070.2:p.Asp303Gly, NP_001365523.1:p.Asp303Gly, XP_047301731.1:p.Asp303Gly, XP_047301732.1:p.Asp297Gly, XP_047301730.1:p.Asp297Gly
12.
rs1490005551 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 2:97711778
(GRCh38)
2:98328241
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97711777:C:A,NC_000002.12:97711777:C:T
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000132/2
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000446/2
(Estonian)
- HGVS:
13.
rs1489954304 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TTGGCATTGGGACCAGAGACCCCGCAAGT>-
[Show Flanks]
- Chromosome:
- 2:97713929
(GRCh38)
2:98330392
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97713928:TTGGCATTGGGACCAGAGACCCCGCAAGT:
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
NC_000002.12:g.97713929_97713957del, NC_000002.11:g.98330392_98330420del, NG_007727.1:g.5362_5390del, NM_001079.4:c.-87_-59del, NM_001079.3:c.-87_-59del, NM_001378594.1:c.-87_-59del, NW_025791765.1:g.639960_639988del, XM_047445775.1:c.-87_-59del, XM_047445776.1:c.-87_-59del, XR_007081582.1:n.113_141del, XR_007081583.1:n.113_141del, XM_047445774.1:c.-87_-59del
14.
rs1489939570 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:97730467
(GRCh38)
2:98346930
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97730466:C:G,NC_000002.12:97730466:C:T
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489903586 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:97729232
(GRCh38)
2:98345695
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97729231:G:C
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000072/19
(TOPMED)
- HGVS:
16.
rs1489640767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:97735265
(GRCh38)
2:98351728
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97735264:G:A
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000002.12:g.97735265G>A, NC_000002.11:g.98351728G>A, NG_007727.1:g.26698G>A, NM_001079.4:c.1098G>A, NM_001079.3:c.1098G>A, NM_207519.2:c.177G>A, NM_207519.1:c.177G>A, NM_001378594.1:c.1098G>A, NW_025791765.1:g.661296G>A, XM_047445775.1:c.1098G>A, XM_047445776.1:c.1080G>A, XR_007081582.1:n.1297G>A, XR_007081583.1:n.1297G>A, XM_047445774.1:c.1080G>A
18.
rs1489559745 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 2:97721791
(GRCh38)
2:98338254
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97721790:T:C,NC_000002.12:97721790:T:G
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
19.
rs1489445032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:97736880
(GRCh38)
2:98353343
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97736879:G:A,NC_000002.12:97736879:G:C
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0./0
(GnomAD)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1489044915 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:97724856
(GRCh38)
2:98341319
(GRCh37)
- Canonical SPDI:
- NC_000002.12:97724855:T:C
- Gene:
- ZAP70 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS: