Links from Gene
Items: 1 to 20 of 1000
1.
rs1491557706 has merged into rs374997767 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 19:29614509
(GRCh38)
19:30105416
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29614507:TCT:T
- Gene:
- POP4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.30779/3651
(
ALFA)
TC=0.18208/3032
(TOMMO)
TC=0.43005/787
(Korea1K)
-=0.46755/45100
(GnomAD)
-=0.47033/2355
(1000Genomes)
- HGVS:
2.
rs1491529433 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTTTT,CTTTTTT,CTTTTTTT,CTTTTTTTT,CTTTTTTTTT,CTTTTTTTTTT,CTTTTTTTTTTT,CTTTTTTTTTTTT,CTTTTTTTTTTTTT,CTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:29608262
(GRCh38)
19:30099170
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29608262:TTTT:TTTTCTTTTT,NC_000019.10:29608262:TTTT:TTTTCTTTTTT,NC_000019.10:29608262:TTTT:TTTTCTTTTTTT,NC_000019.10:29608262:TTTT:TTTTCTTTTTTTT,NC_000019.10:29608262:TTTT:TTTTCTTTTTTTTT,NC_000019.10:29608262:TTTT:TTTTCTTTTTTTTTT,NC_000019.10:29608262:TTTT:TTTTCTTTTTTTTTTT,NC_000019.10:29608262:TTTT:TTTTCTTTTTTTTTTTT,NC_000019.10:29608262:TTTT:TTTTCTTTTTTTTTTTTT,NC_000019.10:29608262:TTTT:TTTTCTTTTTTTTTTTTTT,NC_000019.10:29608262:TTTT:TTTTCTTTTTTTTTTTTTTT,NC_000019.10:29608262:TTTT:TTTTCTTTTTTTTTTTTTTTT,NC_000019.10:29608262:TTTT:TTTTCTTTTTTTTTTTTTTTTTT,NC_000019.10:29608262:TTTT:TTTTCTTTTTTTTTTTTTTTTTTT,NC_000019.10:29608262:TTTT:TTTTCTTTTTTTTTTTTTTTTTTTT,NC_000019.10:29608262:TTTT:TTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:29608262:TTTT:TTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:29608262:TTTT:TTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- POP4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.29608263_29608266T[4]CTTTTT[1], NC_000019.10:g.29608263_29608266T[4]CTTTTTT[1], NC_000019.10:g.29608263_29608266T[4]CTTTTTTT[1], NC_000019.10:g.29608263_29608266T[4]CTTTTTTTT[1], NC_000019.10:g.29608263_29608266T[4]CTTTTTTTTT[1], NC_000019.10:g.29608263_29608266T[4]CTTTTTTTTTT[1], NC_000019.10:g.29608263_29608266T[4]CTTTTTTTTTTT[1], NC_000019.10:g.29608263_29608266T[4]CTTTTTTTTTTTT[1], NC_000019.10:g.29608263_29608266T[4]CTTTTTTTTTTTTT[1], NC_000019.10:g.29608263_29608266T[4]CTTTTTTTTTTTTTT[1], NC_000019.10:g.29608263_29608266T[4]CTTTTTTTTTTTTTTT[1], NC_000019.10:g.29608263_29608266T[4]CTTTTTTTTTTTTTTTT[1], NC_000019.10:g.29608263_29608266T[4]CTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.29608263_29608266T[4]CTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.29608263_29608266T[4]CTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.29608263_29608266T[4]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.29608263_29608266T[4]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.29608263_29608266T[4]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTTTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTTTTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTTTTTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTTTTTTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTTTTTTTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTTTTTTTTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTTTTTTTTTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.30099170_30099173T[4]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
4.
rs1491327841 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA
[Show Flanks]
- Chromosome:
- 19:29607468
(GRCh38)
19:30098376
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29607468:A:ACA
- Gene:
- POP4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACA=0./0
(
ALFA)
AC=0.00004/1
(TOMMO)
AC=0.00097/3
(GnomAD)
- HGVS:
5.
rs1491306121 has merged into rs10625292 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 19:29607294
(GRCh38)
19:30098201
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29607282:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:29607282:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:29607282:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:29607282:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:29607282:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:29607282:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- POP4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.2714/1359
(1000Genomes)
- HGVS:
NC_000019.10:g.29607294_29607295del, NC_000019.10:g.29607295dup, NC_000019.10:g.29607294_29607295dup, NC_000019.10:g.29607293_29607295dup, NC_000019.10:g.29607292_29607295dup, NC_000019.10:g.29607291_29607295dup, NC_000019.9:g.30098201_30098202del, NC_000019.9:g.30098202dup, NC_000019.9:g.30098201_30098202dup, NC_000019.9:g.30098200_30098202dup, NC_000019.9:g.30098199_30098202dup, NC_000019.9:g.30098198_30098202dup
6.
rs1491277700 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GA
[Show Flanks]
- Chromosome:
- 19:29607283
(GRCh38)
19:30098191
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29607283:A:AGA
- Gene:
- POP4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGA=0.00017/2
(
ALFA)
AG=0.03295/211
(1000Genomes)
AG=0.16667/9
(GnomAD)
- HGVS:
9.
rs1490464823 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:29607467
(GRCh38)
19:30098374
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29607466:C:A
- Gene:
- POP4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
10.
rs1490208934 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:29612660
(GRCh38)
19:30103567
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29612659:A:T
- Gene:
- POP4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490144263 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:29606633
(GRCh38)
19:30097540
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29606632:G:T
- Gene:
- POP4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489758887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:29616313
(GRCh38)
19:30107220
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29616312:G:A
- Gene:
- POP4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1489703664 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:29615034
(GRCh38)
19:30105941
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29615033:G:T
- Gene:
- POP4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
14.
rs1489482506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:29613431
(GRCh38)
19:30104338
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29613430:T:A
- Gene:
- POP4 (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:
15.
rs1489134622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:29613037
(GRCh38)
19:30103944
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29613036:C:T
- Gene:
- POP4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000034/9
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
17.
rs1488951008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:29610377
(GRCh38)
19:30101284
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29610376:A:T
- Gene:
- POP4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000008/1
(GnomAD_exomes)
- HGVS:
18.
rs1488830517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:29610124
(GRCh38)
19:30101031
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29610123:C:T
- Gene:
- POP4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000546/1
(Korea1K)
- HGVS:
19.
rs1488725221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:29610640
(GRCh38)
19:30101547
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29610639:G:A,NC_000019.10:29610639:G:C
- Gene:
- POP4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000028/1
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000106/2
(TOMMO)
- HGVS:
20.
rs1488663116 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:29612705
(GRCh38)
19:30103612
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29612704:A:G
- Gene:
- POP4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: