Links from Gene
Items: 1 to 20 of 9425
1.
rs1491576682 has merged into rs56791050 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:31917956
(GRCh38)
1:32383557
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31917947:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:31917947:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:31917947:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:31917947:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:31917947:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:31917947:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:31917947:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:31917947:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31917947:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31917947:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31917947:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31917947:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PTP4A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000001.11:g.31917956_31917967del, NC_000001.11:g.31917960_31917967del, NC_000001.11:g.31917962_31917967del, NC_000001.11:g.31917964_31917967del, NC_000001.11:g.31917965_31917967del, NC_000001.11:g.31917966_31917967del, NC_000001.11:g.31917967del, NC_000001.11:g.31917967dup, NC_000001.11:g.31917966_31917967dup, NC_000001.11:g.31917965_31917967dup, NC_000001.11:g.31917964_31917967dup, NC_000001.11:g.31917963_31917967dup, NC_000001.10:g.32383557_32383568del, NC_000001.10:g.32383561_32383568del, NC_000001.10:g.32383563_32383568del, NC_000001.10:g.32383565_32383568del, NC_000001.10:g.32383566_32383568del, NC_000001.10:g.32383567_32383568del, NC_000001.10:g.32383568del, NC_000001.10:g.32383568dup, NC_000001.10:g.32383567_32383568dup, NC_000001.10:g.32383566_32383568dup, NC_000001.10:g.32383565_32383568dup, NC_000001.10:g.32383564_32383568dup
2.
rs1491568388 has merged into rs1162186046 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:31928708
(GRCh38)
1:32394309
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31928696:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PTP4A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.31928708_31928720del, NC_000001.11:g.31928709_31928720del, NC_000001.11:g.31928710_31928720del, NC_000001.11:g.31928711_31928720del, NC_000001.11:g.31928712_31928720del, NC_000001.11:g.31928713_31928720del, NC_000001.11:g.31928714_31928720del, NC_000001.11:g.31928715_31928720del, NC_000001.11:g.31928716_31928720del, NC_000001.11:g.31928717_31928720del, NC_000001.11:g.31928718_31928720del, NC_000001.11:g.31928719_31928720del, NC_000001.11:g.31928720del, NC_000001.11:g.31928720dup, NC_000001.11:g.31928719_31928720dup, NC_000001.11:g.31928718_31928720dup, NC_000001.11:g.31928717_31928720dup, NC_000001.11:g.31928716_31928720dup, NC_000001.10:g.32394309_32394321del, NC_000001.10:g.32394310_32394321del, NC_000001.10:g.32394311_32394321del, NC_000001.10:g.32394312_32394321del, NC_000001.10:g.32394313_32394321del, NC_000001.10:g.32394314_32394321del, NC_000001.10:g.32394315_32394321del, NC_000001.10:g.32394316_32394321del, NC_000001.10:g.32394317_32394321del, NC_000001.10:g.32394318_32394321del, NC_000001.10:g.32394319_32394321del, NC_000001.10:g.32394320_32394321del, NC_000001.10:g.32394321del, NC_000001.10:g.32394321dup, NC_000001.10:g.32394320_32394321dup, NC_000001.10:g.32394319_32394321dup, NC_000001.10:g.32394318_32394321dup, NC_000001.10:g.32394317_32394321dup
3.
rs1491481951 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 1:31908111
(GRCh38)
1:32373713
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31908111:A:ATA
- Gene:
- PTP4A2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000001.11:g.31908112_31908113insTA, NC_000001.10:g.32373713_32373714insTA, NM_080391.4:c.*740_*741insAT, NM_080391.3:c.*740_*741insAT, NM_001195100.2:c.*740_*741insAT, NM_001195100.1:c.*740_*741insAT, NM_001195101.2:c.*740_*741insAT, NM_001195101.1:c.*740_*741insAT, NM_003479.2:c.*645AT[6], NM_001369859.1:c.*740_*741insAT, NM_001369860.1:c.*740_*741insAT, NM_001369858.1:c.*740_*741insAT
4.
rs1491447995 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 1:31908113
(GRCh38)
1:32373714
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31908110:AAAA:AA
- Gene:
- PTP4A2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0005/8
(TOMMO)
-=0.00077/21
(GnomAD)
-=0.00078/5
(1000Genomes)
-=0.00171/2
(Korea1K)
- HGVS:
NC_000001.11:g.31908113_31908114del, NC_000001.10:g.32373714_32373715del, NM_080391.4:c.*740_*741del, NM_080391.3:c.*740_*741del, NM_001195100.2:c.*740_*741del, NM_001195100.1:c.*740_*741del, NM_001195101.2:c.*740_*741del, NM_001195101.1:c.*740_*741del, NM_001369859.1:c.*740_*741del, NM_001369860.1:c.*740_*741del, NM_001369858.1:c.*740_*741del
5.
rs1491330850 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:31940546
(GRCh38)
1:32406147
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31940545:CT:
- Validated:
- by frequency,by alfa
- MAF:
-=0.000169/2
(
ALFA)
-=0.00013/18
(GnomAD)
- HGVS:
6.
rs1491303889 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AG
[Show Flanks]
- Chromosome:
- 1:31906787
(GRCh38)
1:32372389
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31906787::A,NC_000001.11:31906787::AG
- Gene:
- PTP4A2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AG=0./0
(
ALFA)
AG=0.000004/1
(TOPMED)
A=0.000177/3
(TOMMO)
A=0.000548/1
(Korea1K)
A=0.014454/1345
(GnomAD)
- HGVS:
NC_000001.11:g.31906787_31906788insA, NC_000001.11:g.31906787_31906788insAG, NC_000001.10:g.32372388_32372389insA, NC_000001.10:g.32372388_32372389insAG, NM_080391.4:c.*2064_*2065insT, NM_080391.4:c.*2064_*2065insCT, NM_080391.3:c.*2064_*2065insT, NM_080391.3:c.*2064_*2065insCT, NM_001195100.2:c.*2064_*2065insT, NM_001195100.2:c.*2064_*2065insCT, NM_001195100.1:c.*2064_*2065insT, NM_001195100.1:c.*2064_*2065insCT, NM_001195101.2:c.*2064_*2065insT, NM_001195101.2:c.*2064_*2065insCT, NM_001195101.1:c.*2064_*2065insT, NM_001195101.1:c.*2064_*2065insCT, NM_003479.2:c.*1978_*1979insT, NM_003479.2:c.*1978_*1979insCT, NM_001369859.1:c.*2064_*2065insT, NM_001369859.1:c.*2064_*2065insCT, NM_001369860.1:c.*2064_*2065insT, NM_001369860.1:c.*2064_*2065insCT, NM_001369858.1:c.*2064_*2065insT, NM_001369858.1:c.*2064_*2065insCT
7.
rs1491299750 has merged into rs1167002913 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:31916354
(GRCh38)
1:32381955
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31916345:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PTP4A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.31916354_31916372del, NC_000001.11:g.31916355_31916372del, NC_000001.11:g.31916356_31916372del, NC_000001.11:g.31916357_31916372del, NC_000001.11:g.31916358_31916372del, NC_000001.11:g.31916359_31916372del, NC_000001.11:g.31916360_31916372del, NC_000001.11:g.31916361_31916372del, NC_000001.11:g.31916362_31916372del, NC_000001.11:g.31916363_31916372del, NC_000001.11:g.31916364_31916372del, NC_000001.11:g.31916365_31916372del, NC_000001.11:g.31916366_31916372del, NC_000001.11:g.31916367_31916372del, NC_000001.11:g.31916368_31916372del, NC_000001.11:g.31916369_31916372del, NC_000001.11:g.31916370_31916372del, NC_000001.11:g.31916371_31916372del, NC_000001.11:g.31916372del, NC_000001.11:g.31916372dup, NC_000001.11:g.31916371_31916372dup, NC_000001.11:g.31916370_31916372dup, NC_000001.11:g.31916369_31916372dup, NC_000001.11:g.31916368_31916372dup, NC_000001.11:g.31916367_31916372dup, NC_000001.11:g.31916365_31916372dup, NC_000001.11:g.31916364_31916372dup, NC_000001.11:g.31916363_31916372dup, NC_000001.11:g.31916361_31916372dup, NC_000001.11:g.31916360_31916372dup, NC_000001.11:g.31916359_31916372dup, NC_000001.11:g.31916348_31916372dup, NC_000001.11:g.31916372_31916373insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.31916372_31916373insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.32381955_32381973del, NC_000001.10:g.32381956_32381973del, NC_000001.10:g.32381957_32381973del, NC_000001.10:g.32381958_32381973del, NC_000001.10:g.32381959_32381973del, NC_000001.10:g.32381960_32381973del, NC_000001.10:g.32381961_32381973del, NC_000001.10:g.32381962_32381973del, NC_000001.10:g.32381963_32381973del, NC_000001.10:g.32381964_32381973del, NC_000001.10:g.32381965_32381973del, NC_000001.10:g.32381966_32381973del, NC_000001.10:g.32381967_32381973del, NC_000001.10:g.32381968_32381973del, NC_000001.10:g.32381969_32381973del, NC_000001.10:g.32381970_32381973del, NC_000001.10:g.32381971_32381973del, NC_000001.10:g.32381972_32381973del, NC_000001.10:g.32381973del, NC_000001.10:g.32381973dup, NC_000001.10:g.32381972_32381973dup, NC_000001.10:g.32381971_32381973dup, NC_000001.10:g.32381970_32381973dup, NC_000001.10:g.32381969_32381973dup, NC_000001.10:g.32381968_32381973dup, NC_000001.10:g.32381966_32381973dup, NC_000001.10:g.32381965_32381973dup, NC_000001.10:g.32381964_32381973dup, NC_000001.10:g.32381962_32381973dup, NC_000001.10:g.32381961_32381973dup, NC_000001.10:g.32381960_32381973dup, NC_000001.10:g.32381949_32381973dup, NC_000001.10:g.32381973_32381974insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.32381973_32381974insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
10.
rs1490870267 has merged into rs772173962 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:31920139
(GRCh38)
1:32385740
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31920126:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PTP4A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.31920139_31920150del, NC_000001.11:g.31920140_31920150del, NC_000001.11:g.31920141_31920150del, NC_000001.11:g.31920142_31920150del, NC_000001.11:g.31920143_31920150del, NC_000001.11:g.31920144_31920150del, NC_000001.11:g.31920145_31920150del, NC_000001.11:g.31920146_31920150del, NC_000001.11:g.31920147_31920150del, NC_000001.11:g.31920148_31920150del, NC_000001.11:g.31920149_31920150del, NC_000001.11:g.31920150del, NC_000001.11:g.31920150dup, NC_000001.11:g.31920149_31920150dup, NC_000001.11:g.31920148_31920150dup, NC_000001.11:g.31920147_31920150dup, NC_000001.11:g.31920146_31920150dup, NC_000001.11:g.31920145_31920150dup, NC_000001.10:g.32385740_32385751del, NC_000001.10:g.32385741_32385751del, NC_000001.10:g.32385742_32385751del, NC_000001.10:g.32385743_32385751del, NC_000001.10:g.32385744_32385751del, NC_000001.10:g.32385745_32385751del, NC_000001.10:g.32385746_32385751del, NC_000001.10:g.32385747_32385751del, NC_000001.10:g.32385748_32385751del, NC_000001.10:g.32385749_32385751del, NC_000001.10:g.32385750_32385751del, NC_000001.10:g.32385751del, NC_000001.10:g.32385751dup, NC_000001.10:g.32385750_32385751dup, NC_000001.10:g.32385749_32385751dup, NC_000001.10:g.32385748_32385751dup, NC_000001.10:g.32385747_32385751dup, NC_000001.10:g.32385746_32385751dup
11.
rs1490845012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:31920912
(GRCh38)
1:32386513
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31920911:T:G
- Gene:
- PTP4A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490793805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 1:31913822
(GRCh38)
1:32379423
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31913821:A:G,NC_000001.11:31913821:A:T
- Gene:
- PTP4A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
13.
rs1490748641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 1:31912733
(GRCh38)
1:32378334
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31912732:T:A,NC_000001.11:31912732:T:G
- Gene:
- PTP4A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
G=0.000312/2
(1000Genomes)
- HGVS:
14.
rs1490701598 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:31915857
(GRCh38)
1:32381458
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31915856:A:G
- Gene:
- PTP4A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490516672 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:31910738
(GRCh38)
1:32376339
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31910737:A:T
- Gene:
- PTP4A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
16.
rs1490474746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:31906609
(GRCh38)
1:32372210
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31906608:A:G
- Gene:
- PTP4A2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
NC_000001.11:g.31906609A>G, NC_000001.10:g.32372210A>G, NM_080391.4:c.*2243T>C, NM_080391.3:c.*2243T>C, NM_001195100.2:c.*2243T>C, NM_001195100.1:c.*2243T>C, NM_001195101.2:c.*2243T>C, NM_001195101.1:c.*2243T>C, NM_003479.2:c.*2156T>C, NM_001369859.1:c.*2243T>C, NM_001369860.1:c.*2243T>C, NM_001369858.1:c.*2243T>C
17.
rs1490410776 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GAGA>-
[Show Flanks]
- Chromosome:
- 1:31939430
(GRCh38)
1:32405031
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31939429:GAGA:
- Gene:
- PTP4A2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490389500 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:31921329
(GRCh38)
1:32386930
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31921328:A:G
- Gene:
- PTP4A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490341766 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:31926347
(GRCh38)
1:32391948
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31926345:ACA:A
- Gene:
- PTP4A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS: