Links from Gene
Items: 1 to 20 of 13441
1.
rs1491579678 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 19:19619873
(GRCh38)
19:19730682
(GRCh37)
- Canonical SPDI:
- NC_000019.10:19619872:CA:
- Gene:
- PBX4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00303/36
(
ALFA)
-=0.00228/64
(TOMMO)
- HGVS:
2.
rs1491541483 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T,TT,TTT,TTTT,TTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:19584622
(GRCh38)
19:19695432
(GRCh37)
- Canonical SPDI:
- NC_000019.10:19584622::T,NC_000019.10:19584622::TT,NC_000019.10:19584622::TTT,NC_000019.10:19584622::TTTT,NC_000019.10:19584622::TTTTTTTT,NC_000019.10:19584622::TTTTTTTTTTTTTT,NC_000019.10:19584622::TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19584622::TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PBX4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.19584622_19584623insT, NC_000019.10:g.19584622_19584623insTT, NC_000019.10:g.19584622_19584623insTTT, NC_000019.10:g.19584622_19584623insTTTT, NC_000019.10:g.19584622_19584623insTTTTTTTT, NC_000019.10:g.19584622_19584623insTTTTTTTTTTTTTT, NC_000019.10:g.19584622_19584623insTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.19584622_19584623insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.19695431_19695432insT, NC_000019.9:g.19695431_19695432insTT, NC_000019.9:g.19695431_19695432insTTT, NC_000019.9:g.19695431_19695432insTTTT, NC_000019.9:g.19695431_19695432insTTTTTTTT, NC_000019.9:g.19695431_19695432insTTTTTTTTTTTTTT, NC_000019.9:g.19695431_19695432insTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.19695431_19695432insTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491471230 has merged into rs33921244 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:19615175
(GRCh38)
19:19725984
(GRCh37)
- Canonical SPDI:
- NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19615165:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PBX4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.275/11
(GENOME_DK)
- HGVS:
NC_000019.10:g.19615175_19615191del, NC_000019.10:g.19615177_19615191del, NC_000019.10:g.19615179_19615191del, NC_000019.10:g.19615180_19615191del, NC_000019.10:g.19615181_19615191del, NC_000019.10:g.19615182_19615191del, NC_000019.10:g.19615183_19615191del, NC_000019.10:g.19615184_19615191del, NC_000019.10:g.19615185_19615191del, NC_000019.10:g.19615186_19615191del, NC_000019.10:g.19615187_19615191del, NC_000019.10:g.19615188_19615191del, NC_000019.10:g.19615189_19615191del, NC_000019.10:g.19615190_19615191del, NC_000019.10:g.19615191del, NC_000019.10:g.19615191dup, NC_000019.10:g.19615190_19615191dup, NC_000019.10:g.19615189_19615191dup, NC_000019.10:g.19615188_19615191dup, NC_000019.10:g.19615187_19615191dup, NC_000019.9:g.19725984_19726000del, NC_000019.9:g.19725986_19726000del, NC_000019.9:g.19725988_19726000del, NC_000019.9:g.19725989_19726000del, NC_000019.9:g.19725990_19726000del, NC_000019.9:g.19725991_19726000del, NC_000019.9:g.19725992_19726000del, NC_000019.9:g.19725993_19726000del, NC_000019.9:g.19725994_19726000del, NC_000019.9:g.19725995_19726000del, NC_000019.9:g.19725996_19726000del, NC_000019.9:g.19725997_19726000del, NC_000019.9:g.19725998_19726000del, NC_000019.9:g.19725999_19726000del, NC_000019.9:g.19726000del, NC_000019.9:g.19726000dup, NC_000019.9:g.19725999_19726000dup, NC_000019.9:g.19725998_19726000dup, NC_000019.9:g.19725997_19726000dup, NC_000019.9:g.19725996_19726000dup
5.
rs1491443006 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 19:19605840
(GRCh38)
19:19716649
(GRCh37)
- Canonical SPDI:
- NC_000019.10:19605839:AT:
- Gene:
- PBX4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.008/31
(ALSPAC)
-=0.0084/31
(TWINSUK)
- HGVS:
6.
rs1491405213 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 19:19584622
(GRCh38)
19:19695431
(GRCh37)
- Canonical SPDI:
- NC_000019.10:19584621:GG:
- Gene:
- PBX4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.00018/3
(TOMMO)
- HGVS:
7.
rs1491345089 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGTCCCTCAGGGAGCTCACACTCCACCTC
[Show Flanks]
- Chromosome:
- 19:19567968
(GRCh38)
19:19678778
(GRCh37)
- Canonical SPDI:
- NC_000019.10:19567968:CTCTGTCCCTCAGGGAGCTCACACTCCACCTC:CTCTGTCCCTCAGGGAGCTCACACTCCACCTCTGTCCCTCAGGGAGCTCACACTCCACCTC
- Gene:
- PBX4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
CTCTGTCCCTCAGGGAGCTCACACTCCAC=0.000007/1
(GnomAD)
- HGVS:
8.
rs1491323649 has merged into rs35798518 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:19577209
(GRCh38)
19:19688018
(GRCh37)
- Canonical SPDI:
- NC_000019.10:19577194:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:19577194:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:19577194:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:19577194:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:19577194:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:19577194:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:19577194:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PBX4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.34125/1709
(1000Genomes)
- HGVS:
NC_000019.10:g.19577209_19577212del, NC_000019.10:g.19577210_19577212del, NC_000019.10:g.19577211_19577212del, NC_000019.10:g.19577212del, NC_000019.10:g.19577212dup, NC_000019.10:g.19577211_19577212dup, NC_000019.10:g.19577206_19577212dup, NC_000019.9:g.19688018_19688021del, NC_000019.9:g.19688019_19688021del, NC_000019.9:g.19688020_19688021del, NC_000019.9:g.19688021del, NC_000019.9:g.19688021dup, NC_000019.9:g.19688020_19688021dup, NC_000019.9:g.19688015_19688021dup
9.
rs1491302697 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 19:19567971
(GRCh38)
19:19678780
(GRCh37)
- Canonical SPDI:
- NC_000019.10:19567967:TCTCT:TCT
- Gene:
- PBX4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.00018/5
(TOMMO)
- HGVS:
10.
rs1491258873 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 19:19609549
(GRCh38)
19:19720358
(GRCh37)
- Canonical SPDI:
- NC_000019.10:19609548:GA:
- Gene:
- PBX4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00006/3
(GnomAD)
- HGVS:
13.
rs1491064358 has merged into rs11300224 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:19609562
(GRCh38)
19:19720371
(GRCh37)
- Canonical SPDI:
- NC_000019.10:19609549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:19609549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:19609549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:19609549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:19609549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:19609549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:19609549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:19609549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:19609549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19609549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19609549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19609549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19609549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19609549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19609549:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PBX4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3171/1588
(1000Genomes)
-=0.398/1534
(ALSPAC)
-=0.4013/1488
(TWINSUK)
- HGVS:
NC_000019.10:g.19609562_19609567del, NC_000019.10:g.19609563_19609567del, NC_000019.10:g.19609564_19609567del, NC_000019.10:g.19609565_19609567del, NC_000019.10:g.19609566_19609567del, NC_000019.10:g.19609567del, NC_000019.10:g.19609567dup, NC_000019.10:g.19609566_19609567dup, NC_000019.10:g.19609565_19609567dup, NC_000019.10:g.19609564_19609567dup, NC_000019.10:g.19609563_19609567dup, NC_000019.10:g.19609562_19609567dup, NC_000019.10:g.19609561_19609567dup, NC_000019.10:g.19609560_19609567dup, NC_000019.10:g.19609559_19609567dup, NC_000019.9:g.19720371_19720376del, NC_000019.9:g.19720372_19720376del, NC_000019.9:g.19720373_19720376del, NC_000019.9:g.19720374_19720376del, NC_000019.9:g.19720375_19720376del, NC_000019.9:g.19720376del, NC_000019.9:g.19720376dup, NC_000019.9:g.19720375_19720376dup, NC_000019.9:g.19720374_19720376dup, NC_000019.9:g.19720373_19720376dup, NC_000019.9:g.19720372_19720376dup, NC_000019.9:g.19720371_19720376dup, NC_000019.9:g.19720370_19720376dup, NC_000019.9:g.19720369_19720376dup, NC_000019.9:g.19720368_19720376dup
14.
rs1490874468 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 19:19610759
(GRCh38)
19:19721568
(GRCh37)
- Canonical SPDI:
- NC_000019.10:19610758:AA:
- Gene:
- PBX4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490807153 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:19618894
(GRCh38)
19:19729703
(GRCh37)
- Canonical SPDI:
- NC_000019.10:19618893:G:A
- Gene:
- PBX4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490795883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:19616389
(GRCh38)
19:19727198
(GRCh37)
- Canonical SPDI:
- NC_000019.10:19616388:G:A,NC_000019.10:19616388:G:T
- Gene:
- PBX4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00028/5
(TOMMO)
A=0.00034/1
(KOREAN)
- HGVS:
17.
rs1490777382 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:19603365
(GRCh38)
19:19714174
(GRCh37)
- Canonical SPDI:
- NC_000019.10:19603364:G:A
- Gene:
- PBX4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490727894 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGA>-
[Show Flanks]
- Chromosome:
- 19:19602353
(GRCh38)
19:19713162
(GRCh37)
- Canonical SPDI:
- NC_000019.10:19602347:GAGGAGGA:GAGGA
- Gene:
- PBX4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GAGGA=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
19.
rs1490724646 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:19583266
(GRCh38)
19:19694075
(GRCh37)
- Canonical SPDI:
- NC_000019.10:19583265:G:A
- Gene:
- PBX4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS: