Links from Gene
Items: 1 to 20 of 1000
2.
rs1491519671 has merged into rs397865587 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTGTGTTGTGTGTGCATATGGTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTGGTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:5158174
(GRCh38)
20:5138820
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5158164:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:5158164:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:5158164:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:5158164:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:5158164:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:5158164:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:5158164:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5158164:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5158164:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTGTTGTGTGTGCATATGGTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5158164:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5158164:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5158164:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5158164:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5158164:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5158164:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5158164:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5158164:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTGGTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CDS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000020.11:g.5158174_5158185del, NC_000020.11:g.5158177_5158185del, NC_000020.11:g.5158182_5158185del, NC_000020.11:g.5158183_5158185del, NC_000020.11:g.5158184_5158185del, NC_000020.11:g.5158185del, NC_000020.11:g.5158185dup, NC_000020.11:g.5158184_5158185dup, NC_000020.11:g.5158165_5158185T[23]GT[2]TG[4]CATATGGTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.5158183_5158185dup, NC_000020.11:g.5158182_5158185dup, NC_000020.11:g.5158181_5158185dup, NC_000020.11:g.5158165_5158185T[27]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.5158179_5158185dup, NC_000020.11:g.5158178_5158185dup, NC_000020.11:g.5158175_5158185dup, NC_000020.11:g.5158165_5158185T[42]GTTTTTTTTTTTTTTTGGTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.5138820_5138831del, NC_000020.10:g.5138823_5138831del, NC_000020.10:g.5138828_5138831del, NC_000020.10:g.5138829_5138831del, NC_000020.10:g.5138830_5138831del, NC_000020.10:g.5138831del, NC_000020.10:g.5138831dup, NC_000020.10:g.5138830_5138831dup, NC_000020.10:g.5138811_5138831T[23]GT[2]TG[4]CATATGGTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.5138829_5138831dup, NC_000020.10:g.5138828_5138831dup, NC_000020.10:g.5138827_5138831dup, NC_000020.10:g.5138811_5138831T[27]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.5138825_5138831dup, NC_000020.10:g.5138824_5138831dup, NC_000020.10:g.5138821_5138831dup, NC_000020.10:g.5138811_5138831T[42]GTTTTTTTTTTTTTTTGGTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTT[1]
3.
rs1491488677 has merged into rs11470811 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:5145835
(GRCh38)
20:5126481
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5145822:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:5145822:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:5145822:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:5145822:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:5145822:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:5145822:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:5145822:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:5145822:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:5145822:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5145822:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5145822:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5145822:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5145822:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5145822:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5145822:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CDS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000020.11:g.5145835_5145841del, NC_000020.11:g.5145836_5145841del, NC_000020.11:g.5145837_5145841del, NC_000020.11:g.5145838_5145841del, NC_000020.11:g.5145839_5145841del, NC_000020.11:g.5145840_5145841del, NC_000020.11:g.5145841del, NC_000020.11:g.5145841dup, NC_000020.11:g.5145840_5145841dup, NC_000020.11:g.5145839_5145841dup, NC_000020.11:g.5145838_5145841dup, NC_000020.11:g.5145835_5145841dup, NC_000020.11:g.5145834_5145841dup, NC_000020.11:g.5145833_5145841dup, NC_000020.11:g.5145829_5145841dup, NC_000020.10:g.5126481_5126487del, NC_000020.10:g.5126482_5126487del, NC_000020.10:g.5126483_5126487del, NC_000020.10:g.5126484_5126487del, NC_000020.10:g.5126485_5126487del, NC_000020.10:g.5126486_5126487del, NC_000020.10:g.5126487del, NC_000020.10:g.5126487dup, NC_000020.10:g.5126486_5126487dup, NC_000020.10:g.5126485_5126487dup, NC_000020.10:g.5126484_5126487dup, NC_000020.10:g.5126481_5126487dup, NC_000020.10:g.5126480_5126487dup, NC_000020.10:g.5126479_5126487dup, NC_000020.10:g.5126475_5126487dup
4.
rs1491294700 has merged into rs397866016 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:5163798
(GRCh38)
20:5144444
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5163791:TTTTTTTTTTTTTTTTT:TTTTTT,NC_000020.11:5163791:TTTTTTTTTTTTTTTTT:TTTTTTT,NC_000020.11:5163791:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:5163791:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:5163791:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:5163791:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:5163791:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:5163791:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:5163791:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:5163791:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:5163791:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5163791:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CDS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000020.11:g.5163798_5163808del, NC_000020.11:g.5163799_5163808del, NC_000020.11:g.5163802_5163808del, NC_000020.11:g.5163805_5163808del, NC_000020.11:g.5163806_5163808del, NC_000020.11:g.5163807_5163808del, NC_000020.11:g.5163808del, NC_000020.11:g.5163808dup, NC_000020.11:g.5163807_5163808dup, NC_000020.11:g.5163806_5163808dup, NC_000020.11:g.5163805_5163808dup, NC_000020.11:g.5163801_5163808dup, NC_000020.10:g.5144444_5144454del, NC_000020.10:g.5144445_5144454del, NC_000020.10:g.5144448_5144454del, NC_000020.10:g.5144451_5144454del, NC_000020.10:g.5144452_5144454del, NC_000020.10:g.5144453_5144454del, NC_000020.10:g.5144454del, NC_000020.10:g.5144454dup, NC_000020.10:g.5144453_5144454dup, NC_000020.10:g.5144452_5144454dup, NC_000020.10:g.5144451_5144454dup, NC_000020.10:g.5144447_5144454dup
6.
rs1491103777 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 20:5145823
(GRCh38)
20:5126470
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5145823::G
- Gene:
- CDS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000046/2
(GnomAD)
- HGVS:
7.
rs1491075164 has merged into rs11479516 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTCTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:5197245
(GRCh38)
20:5177891
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5197233:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:5197233:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:5197233:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:5197233:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:5197233:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:5197233:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:5197233:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:5197233:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTCTTTTTTTTTTTTTTTTTT
- Gene:
- CDS2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.4177/2092
(1000Genomes)
- HGVS:
NC_000020.11:g.5197245_5197249del, NC_000020.11:g.5197246_5197249del, NC_000020.11:g.5197247_5197249del, NC_000020.11:g.5197248_5197249del, NC_000020.11:g.5197249del, NC_000020.11:g.5197249dup, NC_000020.11:g.5197247_5197249dup, NC_000020.11:g.5197234_5197249T[41]GTTTTTCTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.5177891_5177895del, NC_000020.10:g.5177892_5177895del, NC_000020.10:g.5177893_5177895del, NC_000020.10:g.5177894_5177895del, NC_000020.10:g.5177895del, NC_000020.10:g.5177895dup, NC_000020.10:g.5177893_5177895dup, NC_000020.10:g.5177880_5177895T[41]GTTTTTCTTTTTTTTTTTTTTTTTT[1], NM_003818.4:c.*7011_*7015del, NM_003818.4:c.*7012_*7015del, NM_003818.4:c.*7013_*7015del, NM_003818.4:c.*7014_*7015del, NM_003818.4:c.*7015del, NM_003818.4:c.*7015dup, NM_003818.4:c.*7013_*7015dup, NM_003818.4:c.*7000_*7015T[41]GTTTTTCTTTTTTTTTTTTTTTTTT[1], NM_003818.3:c.*7011_*7015del, NM_003818.3:c.*7012_*7015del, NM_003818.3:c.*7013_*7015del, NM_003818.3:c.*7014_*7015del, NM_003818.3:c.*7015del, NM_003818.3:c.*7015dup, NM_003818.3:c.*7013_*7015dup, NM_003818.3:c.*7000_*7015T[41]GTTTTTCTTTTTTTTTTTTTTTTTT[1]
8.
rs1491033587 has merged into rs11481738 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 20:5164639
(GRCh38)
20:5145285
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5164628:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:5164628:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:5164628:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:5164628:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:5164628:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:5164628:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:5164628:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:5164628:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- CDS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
A=0.275/11
(GENOME_DK)
A=0.30034/179
(NorthernSweden)
A=0.35392/1364
(ALSPAC)
A=0.36165/1341
(TWINSUK)
- HGVS:
NC_000020.11:g.5164639_5164642del, NC_000020.11:g.5164640_5164642del, NC_000020.11:g.5164641_5164642del, NC_000020.11:g.5164642del, NC_000020.11:g.5164642dup, NC_000020.11:g.5164641_5164642dup, NC_000020.11:g.5164640_5164642dup, NC_000020.11:g.5164639_5164642dup, NC_000020.10:g.5145285_5145288del, NC_000020.10:g.5145286_5145288del, NC_000020.10:g.5145287_5145288del, NC_000020.10:g.5145288del, NC_000020.10:g.5145288dup, NC_000020.10:g.5145287_5145288dup, NC_000020.10:g.5145286_5145288dup, NC_000020.10:g.5145285_5145288dup
9.
rs1490971607 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:5134308
(GRCh38)
20:5114954
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5134307:C:A
- Gene:
- CDS2 (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.
rs1490906309 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:5148336
(GRCh38)
20:5128982
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5148335:G:T
- Gene:
- CDS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490873066 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:5187594
(GRCh38)
20:5168240
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5187593:A:G
- Gene:
- CDS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
12.
rs1490813741 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 20:5126797
(GRCh38)
20:5107443
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5126796:T:C,NC_000020.11:5126796:T:G
- Gene:
- PCNA (Varview), CDS2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490749430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:5195182
(GRCh38)
20:5175828
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5195181:C:T
- Gene:
- CDS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490742799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:5127399
(GRCh38)
20:5108045
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5127398:C:T
- Gene:
- PCNA (Varview), CDS2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490729028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 20:5167511
(GRCh38)
20:5148157
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5167510:G:A,NC_000020.11:5167510:G:T
- Gene:
- CDS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00005/7
(GnomAD)
- HGVS:
16.
rs1490709067 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:5134387
(GRCh38)
20:5115033
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5134386:A:G
- Gene:
- CDS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490622755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:5196710
(GRCh38)
20:5177356
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5196709:G:A
- Gene:
- CDS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490580027 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:5127051
(GRCh38)
20:5107697
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5127050:T:C
- Gene:
- PCNA (Varview), CDS2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490519445 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:5154773
(GRCh38)
20:5135419
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5154772:G:A
- Gene:
- CDS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
20.
rs1490518818 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCATTCA
[Show Flanks]
- Chromosome:
- 20:5179510
(GRCh38)
20:5160157
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5179510:CA:CACCATTCA
- Gene:
- CDS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CACCATTCA=0./0
(
ALFA)
CACCATT=0.000015/4
(TOPMED)
- HGVS: