Links from Gene
Items: 1 to 20 of 5071
1.
rs1491394118 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 5:146102040
(GRCh38)
5:145481603
(GRCh37)
- Canonical SPDI:
- NC_000005.10:146102039:CT:
- Gene:
- PLAC8L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000843/10
(
ALFA)
-=0.000682/81
(GnomAD)
- HGVS:
3.
rs1491325117 has merged into rs200700074 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-,CACA,CACACA
[Show Flanks]
- Chromosome:
- 5:146093032
(GRCh38)
5:145472595
(GRCh37)
- Canonical SPDI:
- NC_000005.10:146093018:ACACACACACACACA:ACACACACACACA,NC_000005.10:146093018:ACACACACACACACA:ACACACACACACACACA,NC_000005.10:146093018:ACACACACACACACA:ACACACACACACACACACA
- Gene:
- PLAC8L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACA=0./0
(
ALFA)
AC=0.00022/1
(Estonian)
AC=0.00167/1
(NorthernSweden)
AC=0.02171/109
(1000Genomes)
AC=0.07945/1332
(TOMMO)
AC=0.08679/159
(Korea1K)
- HGVS:
4.
rs1491172394 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 5:146089180
(GRCh38)
5:145468743
(GRCh37)
- Canonical SPDI:
- NC_000005.10:146089175:ACACAC:ACAC
- Gene:
- PLAC8L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACAC=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000106/3
(TOMMO)
- HGVS:
5.
rs1491131367 has merged into rs71581853 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAACAAAACAAAACAAAAC>-,AAAAC,AAAACAAAAC,AAAACAAAACAAAAC,AAAACAAAACAAAACAAAACAAAAC,AAAACAAAACAAAACAAAACAAAACAAAAC,AAAACAAAACAAAACAAAACAAAACAAAACAAAAC,AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC,AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC
[Show Flanks]
- Chromosome:
- 5:146090555
(GRCh38)
5:145470118
(GRCh37)
- Canonical SPDI:
- NC_000005.10:146090534:AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC:AAAACAAAACAAAACAAAAC,NC_000005.10:146090534:AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC:AAAACAAAACAAAACAAAACAAAAC,NC_000005.10:146090534:AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC:AAAACAAAACAAAACAAAACAAAACAAAAC,NC_000005.10:146090534:AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC:AAAACAAAACAAAACAAAACAAAACAAAACAAAAC,NC_000005.10:146090534:AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC:AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC,NC_000005.10:146090534:AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC:AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC,NC_000005.10:146090534:AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC:AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC,NC_000005.10:146090534:AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC:AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC,NC_000005.10:146090534:AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC:AAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAAC
- Gene:
- PLAC8L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAACAAAACAAAACAAAACAAAAC=0./0
(
ALFA)
- HGVS:
NC_000005.10:g.146090535AAAAC[4], NC_000005.10:g.146090535AAAAC[5], NC_000005.10:g.146090535AAAAC[6], NC_000005.10:g.146090535AAAAC[7], NC_000005.10:g.146090535AAAAC[9], NC_000005.10:g.146090535AAAAC[10], NC_000005.10:g.146090535AAAAC[11], NC_000005.10:g.146090535AAAAC[12], NC_000005.10:g.146090535AAAAC[13], NC_000005.9:g.145470098AAAAC[4], NC_000005.9:g.145470098AAAAC[5], NC_000005.9:g.145470098AAAAC[6], NC_000005.9:g.145470098AAAAC[7], NC_000005.9:g.145470098AAAAC[9], NC_000005.9:g.145470098AAAAC[10], NC_000005.9:g.145470098AAAAC[11], NC_000005.9:g.145470098AAAAC[12], NC_000005.9:g.145470098AAAAC[13]
6.
rs1490965235 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 5:146106675
(GRCh38)
5:145486238
(GRCh37)
- Canonical SPDI:
- NC_000005.10:146106674:A:T
- Gene:
- PLAC8L1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490818836 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:146097528
(GRCh38)
5:145477091
(GRCh37)
- Canonical SPDI:
- NC_000005.10:146097527:A:G
- Gene:
- PLAC8L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490791508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:146096523
(GRCh38)
5:145476086
(GRCh37)
- Canonical SPDI:
- NC_000005.10:146096522:G:A
- Gene:
- PLAC8L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490447625 has merged into rs1157245276 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAATTTACAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAATAAATTAAAACTTTAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATTAAGAGTTAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:146105589
(GRCh38)
5:145485152
(GRCh37)
- Canonical SPDI:
- NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAATTTACAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAATTAAAACTTTAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTAAGAGTTAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PLAC8L1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.146105589_146105603del, NC_000005.10:g.146105590_146105603del, NC_000005.10:g.146105591_146105603del, NC_000005.10:g.146105592_146105603del, NC_000005.10:g.146105593_146105603del, NC_000005.10:g.146105594_146105603del, NC_000005.10:g.146105595_146105603del, NC_000005.10:g.146105596_146105603del, NC_000005.10:g.146105597_146105603del, NC_000005.10:g.146105598_146105603del, NC_000005.10:g.146105599_146105603del, NC_000005.10:g.146105600_146105603del, NC_000005.10:g.146105601_146105603del, NC_000005.10:g.146105602_146105603del, NC_000005.10:g.146105603del, NC_000005.10:g.146105603dup, NC_000005.10:g.146105602_146105603dup, NC_000005.10:g.146105601_146105603dup, NC_000005.10:g.146105600_146105603dup, NC_000005.10:g.146105599_146105603dup, NC_000005.10:g.146105598_146105603dup, NC_000005.10:g.146105597_146105603dup, NC_000005.10:g.146105596_146105603dup, NC_000005.10:g.146105595_146105603dup, NC_000005.10:g.146105594_146105603dup, NC_000005.10:g.146105593_146105603dup, NC_000005.10:g.146105592_146105603dup, NC_000005.10:g.146105589_146105603dup, NC_000005.10:g.146105588_146105603dup, NC_000005.10:g.146105579_146105603A[43]GGAATTTACAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.146105579_146105603A[31]TAAATTAAAACTTTAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.146105579_146105603A[31]TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.146105579_146105603A[30]TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.146105579_146105603A[27]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.146105579_146105603A[27]TTAAGAGTTAAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.146105579_146105603A[27]TTTAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.145485152_145485166del, NC_000005.9:g.145485153_145485166del, NC_000005.9:g.145485154_145485166del, NC_000005.9:g.145485155_145485166del, NC_000005.9:g.145485156_145485166del, NC_000005.9:g.145485157_145485166del, NC_000005.9:g.145485158_145485166del, NC_000005.9:g.145485159_145485166del, NC_000005.9:g.145485160_145485166del, NC_000005.9:g.145485161_145485166del, NC_000005.9:g.145485162_145485166del, NC_000005.9:g.145485163_145485166del, NC_000005.9:g.145485164_145485166del, NC_000005.9:g.145485165_145485166del, NC_000005.9:g.145485166del, NC_000005.9:g.145485166dup, NC_000005.9:g.145485165_145485166dup, NC_000005.9:g.145485164_145485166dup, NC_000005.9:g.145485163_145485166dup, NC_000005.9:g.145485162_145485166dup, NC_000005.9:g.145485161_145485166dup, NC_000005.9:g.145485160_145485166dup, NC_000005.9:g.145485159_145485166dup, NC_000005.9:g.145485158_145485166dup, NC_000005.9:g.145485157_145485166dup, NC_000005.9:g.145485156_145485166dup, NC_000005.9:g.145485155_145485166dup, NC_000005.9:g.145485152_145485166dup, NC_000005.9:g.145485151_145485166dup, NC_000005.9:g.145485142_145485166A[43]GGAATTTACAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.145485142_145485166A[31]TAAATTAAAACTTTAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.145485142_145485166A[31]TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.145485142_145485166A[30]TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.145485142_145485166A[27]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.145485142_145485166A[27]TTAAGAGTTAAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.145485142_145485166A[27]TTTAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
11.
rs1490283098 has merged into rs58130114 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TT,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:146086035
(GRCh38)
5:145465598
(GRCh37)
- Canonical SPDI:
- NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:146086024:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PLAC8L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000005.10:g.146086035_146086047del, NC_000005.10:g.146086037_146086047del, NC_000005.10:g.146086038_146086047del, NC_000005.10:g.146086041_146086047del, NC_000005.10:g.146086042_146086047del, NC_000005.10:g.146086043_146086047del, NC_000005.10:g.146086044_146086047del, NC_000005.10:g.146086045_146086047del, NC_000005.10:g.146086046_146086047del, NC_000005.10:g.146086047del, NC_000005.10:g.146086047dup, NC_000005.10:g.146086046_146086047dup, NC_000005.10:g.146086045_146086047dup, NC_000005.10:g.146086044_146086047dup, NC_000005.10:g.146086043_146086047dup, NC_000005.10:g.146086042_146086047dup, NC_000005.10:g.146086041_146086047dup, NC_000005.10:g.146086040_146086047dup, NC_000005.10:g.146086039_146086047dup, NC_000005.10:g.146086038_146086047dup, NC_000005.10:g.146086037_146086047dup, NC_000005.10:g.146086036_146086047dup, NC_000005.10:g.146086035_146086047dup, NC_000005.10:g.146086034_146086047dup, NC_000005.10:g.146086033_146086047dup, NC_000005.10:g.146086032_146086047dup, NC_000005.10:g.146086031_146086047dup, NC_000005.10:g.146086030_146086047dup, NC_000005.10:g.146086029_146086047dup, NC_000005.10:g.146086028_146086047dup, NC_000005.10:g.146086026_146086047dup, NC_000005.10:g.146086025_146086047dup, NC_000005.10:g.146086047_146086048insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.146086047_146086048insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.145465598_145465610del, NC_000005.9:g.145465600_145465610del, NC_000005.9:g.145465601_145465610del, NC_000005.9:g.145465604_145465610del, NC_000005.9:g.145465605_145465610del, NC_000005.9:g.145465606_145465610del, NC_000005.9:g.145465607_145465610del, NC_000005.9:g.145465608_145465610del, NC_000005.9:g.145465609_145465610del, NC_000005.9:g.145465610del, NC_000005.9:g.145465610dup, NC_000005.9:g.145465609_145465610dup, NC_000005.9:g.145465608_145465610dup, NC_000005.9:g.145465607_145465610dup, NC_000005.9:g.145465606_145465610dup, NC_000005.9:g.145465605_145465610dup, NC_000005.9:g.145465604_145465610dup, NC_000005.9:g.145465603_145465610dup, NC_000005.9:g.145465602_145465610dup, NC_000005.9:g.145465601_145465610dup, NC_000005.9:g.145465600_145465610dup, NC_000005.9:g.145465599_145465610dup, NC_000005.9:g.145465598_145465610dup, NC_000005.9:g.145465597_145465610dup, NC_000005.9:g.145465596_145465610dup, NC_000005.9:g.145465595_145465610dup, NC_000005.9:g.145465594_145465610dup, NC_000005.9:g.145465593_145465610dup, NC_000005.9:g.145465592_145465610dup, NC_000005.9:g.145465591_145465610dup, NC_000005.9:g.145465589_145465610dup, NC_000005.9:g.145465588_145465610dup, NC_000005.9:g.145465610_145465611insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.145465610_145465611insTTTTTTTTTTTTTTTTTTTTTTTTT
12.
rs1490256072 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:146103505
(GRCh38)
5:145483068
(GRCh37)
- Canonical SPDI:
- NC_000005.10:146103504:C:T
- Gene:
- PLAC8L1 (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)
- HGVS:
13.
rs1490201223 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 5:146086011
(GRCh38)
5:145465574
(GRCh37)
- Canonical SPDI:
- NC_000005.10:146086010:G:A,NC_000005.10:146086010:G:T
- Gene:
- PLAC8L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
A=0.000008/2
(TOPMED)
T=0.000566/16
(TOMMO)
- HGVS:
14.
rs1490189246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:146102307
(GRCh38)
5:145481870
(GRCh37)
- Canonical SPDI:
- NC_000005.10:146102306:T:C
- Gene:
- PLAC8L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489950166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:146095922
(GRCh38)
5:145475485
(GRCh37)
- Canonical SPDI:
- NC_000005.10:146095921:T:C
- Gene:
- PLAC8L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
18.
rs1489628348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:146084968
(GRCh38)
5:145464531
(GRCh37)
- Canonical SPDI:
- NC_000005.10:146084967:C:G
- Gene:
- PLAC8L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
19.
rs1489601246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:146102863
(GRCh38)
5:145482426
(GRCh37)
- Canonical SPDI:
- NC_000005.10:146102862:A:C
- Gene:
- PLAC8L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1489403290 has merged into rs1157245276 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAATTTACAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAATAAATTAAAACTTTAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATTAAGAGTTAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:146105589
(GRCh38)
5:145485152
(GRCh37)
- Canonical SPDI:
- NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAATTTACAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAATTAAAACTTTAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTAAGAGTTAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:146105578:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PLAC8L1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.146105589_146105603del, NC_000005.10:g.146105590_146105603del, NC_000005.10:g.146105591_146105603del, NC_000005.10:g.146105592_146105603del, NC_000005.10:g.146105593_146105603del, NC_000005.10:g.146105594_146105603del, NC_000005.10:g.146105595_146105603del, NC_000005.10:g.146105596_146105603del, NC_000005.10:g.146105597_146105603del, NC_000005.10:g.146105598_146105603del, NC_000005.10:g.146105599_146105603del, NC_000005.10:g.146105600_146105603del, NC_000005.10:g.146105601_146105603del, NC_000005.10:g.146105602_146105603del, NC_000005.10:g.146105603del, NC_000005.10:g.146105603dup, NC_000005.10:g.146105602_146105603dup, NC_000005.10:g.146105601_146105603dup, NC_000005.10:g.146105600_146105603dup, NC_000005.10:g.146105599_146105603dup, NC_000005.10:g.146105598_146105603dup, NC_000005.10:g.146105597_146105603dup, NC_000005.10:g.146105596_146105603dup, NC_000005.10:g.146105595_146105603dup, NC_000005.10:g.146105594_146105603dup, NC_000005.10:g.146105593_146105603dup, NC_000005.10:g.146105592_146105603dup, NC_000005.10:g.146105589_146105603dup, NC_000005.10:g.146105588_146105603dup, NC_000005.10:g.146105579_146105603A[43]GGAATTTACAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.146105579_146105603A[31]TAAATTAAAACTTTAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.146105579_146105603A[31]TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.146105579_146105603A[30]TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.146105579_146105603A[27]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.146105579_146105603A[27]TTAAGAGTTAAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.146105579_146105603A[27]TTTAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.145485152_145485166del, NC_000005.9:g.145485153_145485166del, NC_000005.9:g.145485154_145485166del, NC_000005.9:g.145485155_145485166del, NC_000005.9:g.145485156_145485166del, NC_000005.9:g.145485157_145485166del, NC_000005.9:g.145485158_145485166del, NC_000005.9:g.145485159_145485166del, NC_000005.9:g.145485160_145485166del, NC_000005.9:g.145485161_145485166del, NC_000005.9:g.145485162_145485166del, NC_000005.9:g.145485163_145485166del, NC_000005.9:g.145485164_145485166del, NC_000005.9:g.145485165_145485166del, NC_000005.9:g.145485166del, NC_000005.9:g.145485166dup, NC_000005.9:g.145485165_145485166dup, NC_000005.9:g.145485164_145485166dup, NC_000005.9:g.145485163_145485166dup, NC_000005.9:g.145485162_145485166dup, NC_000005.9:g.145485161_145485166dup, NC_000005.9:g.145485160_145485166dup, NC_000005.9:g.145485159_145485166dup, NC_000005.9:g.145485158_145485166dup, NC_000005.9:g.145485157_145485166dup, NC_000005.9:g.145485156_145485166dup, NC_000005.9:g.145485155_145485166dup, NC_000005.9:g.145485152_145485166dup, NC_000005.9:g.145485151_145485166dup, NC_000005.9:g.145485142_145485166A[43]GGAATTTACAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.145485142_145485166A[31]TAAATTAAAACTTTAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.145485142_145485166A[31]TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.145485142_145485166A[30]TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.145485142_145485166A[27]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.145485142_145485166A[27]TTAAGAGTTAAGAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.145485142_145485166A[27]TTTAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]