Links from Gene
Items: 1 to 20 of 35842
1.
rs1491578255 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 3:111687685
(GRCh38)
3:111406533
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111687685:TT:TTCTT
- Gene:
- PLCXD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTCTT=0./0
(
ALFA)
TTC=0.00003/1
(GnomAD)
- HGVS:
3.
rs1491569624 has merged into rs1381683612 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:111739593
(GRCh38)
3:111458440
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111739591:ACA:A
- Gene:
- PHLDB2 (Varview), PLCXD2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00025/3
(
ALFA)
-=0.00396/64
(TOMMO)
-=0.05637/4639
(GnomAD)
- HGVS:
4.
rs1491559945 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 3:111808492
(GRCh38)
3:111527339
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111808491:GT:
- Gene:
- PHLDB2 (Varview), PLCXD2 (Varview), LOC105374040 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000026/3
(GnomAD)
- HGVS:
5.
rs1491550042 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:111767030
(GRCh38)
3:111485877
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111767029:CA:
- Gene:
- PHLDB2 (Varview), PLCXD2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.02479/294
(
ALFA)
-=0.00218/43
(GnomAD)
-=0.00362/102
(TOMMO)
- HGVS:
6.
rs1491538429 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 3:111709091
(GRCh38)
3:111427938
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111709090:GG:
- Gene:
- PLCXD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000024/3
(GnomAD)
-=0.00024/4
(TOMMO)
-=0.027244/105
(ALSPAC)
-=0.033172/123
(TWINSUK)
- HGVS:
7.
rs1491525112 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:111830507
(GRCh38)
3:111549354
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111830506:CA:
- Gene:
- PHLDB2 (Varview), PLCXD2 (Varview), LOC105374040 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.03246/385
(
ALFA)
-=0.00046/13
(TOMMO)
-=0.00502/130
(GnomAD)
- HGVS:
8.
rs1491519588 has merged into rs1377095354 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 3:111834349
(GRCh38)
3:111553196
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111834340:ATATATATAT:ATATATAT,NC_000003.12:111834340:ATATATATAT:ATATATATATAT
- Gene:
- PHLDB2 (Varview), PLCXD2 (Varview), LOC105374040 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
9.
rs1491515218 has merged into rs1390180463 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT
[Show Flanks]
- Chromosome:
- 3:111834131
(GRCh38)
3:111552978
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111834123:TATATATATAT:TATATAT,NC_000003.12:111834123:TATATATATAT:TATATATAT,NC_000003.12:111834123:TATATATATAT:TATATATATATAT
- Gene:
- PHLDB2 (Varview), PLCXD2 (Varview), LOC105374040 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATAT=0./0
(
ALFA)
-=0.00048/46
(GnomAD)
-=0.00054/9
(TOMMO)
- HGVS:
11.
rs1491489501 has merged into rs1476822890 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 3:111832773
(GRCh38)
3:111551620
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111832765:ATATATATA:ATATATA,NC_000003.12:111832765:ATATATATA:ATATATATATA
- Gene:
- PHLDB2 (Varview), PLCXD2 (Varview), LOC105374040 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATA=0./0
(
ALFA)
-=0.00024/4
(TOMMO)
- HGVS:
12.
rs1491461706 has merged into rs1472577584 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 3:111834324
(GRCh38)
3:111553171
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111834315:TATATATATA:TATATATA,NC_000003.12:111834315:TATATATATA:TATATATATATA
- Gene:
- PHLDB2 (Varview), PLCXD2 (Varview), LOC105374040 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATA=0./0
(
ALFA)
-=0.000008/1
(GnomAD)
-=0.000071/1
(TOMMO)
- HGVS:
13.
rs1491460524 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 3:111834123
(GRCh38)
3:111552970
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111834122:TT:
- Gene:
- PHLDB2 (Varview), PLCXD2 (Varview), LOC105374040 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.004092/461
(GnomAD)
-=0.00432/71
(TOMMO)
-=0.007483/11
(Korea1K)
- HGVS:
14.
rs1491451726 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 3:111732717
(GRCh38)
3:111451564
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111732711:TCTCTCT:TCTCT
- Gene:
- PHLDB2 (Varview), PLCXD2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD_exomes)
- HGVS:
15.
rs1491450296 has merged into rs34775570 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:111704831
(GRCh38)
3:111423678
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111704817:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:111704817:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:111704817:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:111704817:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:111704817:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:111704817:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PLCXD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0.00029/3
(
ALFA)
T=0.21725/1088
(1000Genomes)
- HGVS:
NC_000003.12:g.111704831_111704832del, NC_000003.12:g.111704832del, NC_000003.12:g.111704832dup, NC_000003.12:g.111704831_111704832dup, NC_000003.12:g.111704830_111704832dup, NC_000003.12:g.111704823_111704832dup, NC_000003.11:g.111423678_111423679del, NC_000003.11:g.111423679del, NC_000003.11:g.111423679dup, NC_000003.11:g.111423678_111423679dup, NC_000003.11:g.111423677_111423679dup, NC_000003.11:g.111423670_111423679dup
16.
rs1491448437 has merged into rs5851783 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:111767040
(GRCh38)
3:111485887
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111767030:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:111767030:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:111767030:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:111767030:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:111767030:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:111767030:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:111767030:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:111767030:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:111767030:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:111767030:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:111767030:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:111767030:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:111767030:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:111767030:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:111767030:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:111767030:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PHLDB2 (Varview), PLCXD2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AA=0.0355/178
(1000Genomes)
- HGVS:
NC_000003.12:g.111767040_111767053del, NC_000003.12:g.111767042_111767053del, NC_000003.12:g.111767044_111767053del, NC_000003.12:g.111767045_111767053del, NC_000003.12:g.111767047_111767053del, NC_000003.12:g.111767048_111767053del, NC_000003.12:g.111767049_111767053del, NC_000003.12:g.111767050_111767053del, NC_000003.12:g.111767051_111767053del, NC_000003.12:g.111767052_111767053del, NC_000003.12:g.111767053del, NC_000003.12:g.111767053dup, NC_000003.12:g.111767052_111767053dup, NC_000003.12:g.111767051_111767053dup, NC_000003.12:g.111767050_111767053dup, NC_000003.12:g.111767049_111767053dup, NC_000003.11:g.111485887_111485900del, NC_000003.11:g.111485889_111485900del, NC_000003.11:g.111485891_111485900del, NC_000003.11:g.111485892_111485900del, NC_000003.11:g.111485894_111485900del, NC_000003.11:g.111485895_111485900del, NC_000003.11:g.111485896_111485900del, NC_000003.11:g.111485897_111485900del, NC_000003.11:g.111485898_111485900del, NC_000003.11:g.111485899_111485900del, NC_000003.11:g.111485900del, NC_000003.11:g.111485900dup, NC_000003.11:g.111485899_111485900dup, NC_000003.11:g.111485898_111485900dup, NC_000003.11:g.111485897_111485900dup, NC_000003.11:g.111485896_111485900dup
17.
rs1491445224 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATAATATA
[Show Flanks]
- Chromosome:
- 3:111834316
(GRCh38)
3:111553164
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111834316:ATATA:ATATACATAATATA
- Gene:
- PHLDB2 (Varview), PLCXD2 (Varview), LOC105374040 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATACATAATATA=0./0
(
ALFA)
ATATACATA=0.000266/34
(GnomAD)
- HGVS:
18.
rs1491441821 has merged into rs1479139477 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGA
[Show Flanks]
- Chromosome:
- 3:111830981
(GRCh38)
3:111549828
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111830979:AGA:A,NC_000003.12:111830979:AGA:AGAGA
- Gene:
- PHLDB2 (Varview), PLCXD2 (Varview), LOC105374040 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGA=0./0
(
ALFA)
-=0.00004/2
(GnomAD)
- HGVS:
19.
rs1491428663 has merged into rs1168681416 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATA>-,TA,TATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA
[Show Flanks]
- Chromosome:
- 3:111822328
(GRCh38)
3:111541175
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111822317:TATATATATATATATA:TATATATATA,NC_000003.12:111822317:TATATATATATATATA:TATATATATATA,NC_000003.12:111822317:TATATATATATATATA:TATATATATATATA,NC_000003.12:111822317:TATATATATATATATA:TATATATATATATATATA,NC_000003.12:111822317:TATATATATATATATA:TATATATATATATATATATA,NC_000003.12:111822317:TATATATATATATATA:TATATATATATATATATATATA,NC_000003.12:111822317:TATATATATATATATA:TATATATATATATATATATATATA
- Gene:
- PHLDB2 (Varview), PLCXD2 (Varview), LOC105374040 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATA=0./0
(
ALFA)
TA=0.00159/27
(TOMMO)
TA=0.00167/1
(NorthernSweden)
- HGVS:
NC_000003.12:g.111822318TA[5], NC_000003.12:g.111822318TA[6], NC_000003.12:g.111822318TA[7], NC_000003.12:g.111822318TA[9], NC_000003.12:g.111822318TA[10], NC_000003.12:g.111822318TA[11], NC_000003.12:g.111822318TA[12], NC_000003.11:g.111541165TA[5], NC_000003.11:g.111541165TA[6], NC_000003.11:g.111541165TA[7], NC_000003.11:g.111541165TA[9], NC_000003.11:g.111541165TA[10], NC_000003.11:g.111541165TA[11], NC_000003.11:g.111541165TA[12]
20.
rs1491424507 has merged into rs34859598 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:111750956
(GRCh38)
3:111469803
(GRCh37)
- Canonical SPDI:
- NC_000003.12:111750947:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:111750947:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:111750947:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:111750947:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:111750947:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:111750947:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:111750947:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:111750947:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- PHLDB2 (Varview), PLCXD2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.4896/2452
(1000Genomes)
- HGVS:
NC_000003.12:g.111750956_111750966del, NC_000003.12:g.111750962_111750966del, NC_000003.12:g.111750963_111750966del, NC_000003.12:g.111750964_111750966del, NC_000003.12:g.111750965_111750966del, NC_000003.12:g.111750966del, NC_000003.12:g.111750966dup, NC_000003.12:g.111750965_111750966dup, NC_000003.11:g.111469803_111469813del, NC_000003.11:g.111469809_111469813del, NC_000003.11:g.111469810_111469813del, NC_000003.11:g.111469811_111469813del, NC_000003.11:g.111469812_111469813del, NC_000003.11:g.111469813del, NC_000003.11:g.111469813dup, NC_000003.11:g.111469812_111469813dup