Links from Gene
Items: 1 to 20 of 7615
2.
rs1491440696 has merged into rs3091914 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCCCCCCCCC>-,C,CCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
[Show Flanks]
- Chromosome:
- 20:50142686
(GRCh38)
20:48759223
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50142682:CCCCCCCCCCCCC:CCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:50142682:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (Varview), LOC124904927 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCC=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
NC_000020.11:g.50142686_50142695del, NC_000020.11:g.50142687_50142695del, NC_000020.11:g.50142690_50142695del, NC_000020.11:g.50142692_50142695del, NC_000020.11:g.50142693_50142695del, NC_000020.11:g.50142694_50142695del, NC_000020.11:g.50142695del, NC_000020.11:g.50142695dup, NC_000020.11:g.50142694_50142695dup, NC_000020.11:g.50142693_50142695dup, NC_000020.11:g.50142692_50142695dup, NC_000020.11:g.50142691_50142695dup, NC_000020.11:g.50142689_50142695dup, NC_000020.11:g.50142687_50142695dup, NC_000020.11:g.50142684_50142695dup, NC_000020.11:g.50142683_50142695dup, NC_000020.11:g.50142695_50142696insCCCCCCCCCCCCCCC, NC_000020.11:g.50142695_50142696insCCCCCCCCCCCCCCCC, NC_000020.11:g.50142695_50142696insCCCCCCCCCCCCCCCCC, NC_000020.11:g.50142695_50142696insCCCCCCCCCCCCCCCCCC, NC_000020.11:g.50142695_50142696insCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.50142695_50142696insCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.50142695_50142696insCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.50142695_50142696insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.11:g.50142695_50142696insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.48759223_48759232del, NC_000020.10:g.48759224_48759232del, NC_000020.10:g.48759227_48759232del, NC_000020.10:g.48759229_48759232del, NC_000020.10:g.48759230_48759232del, NC_000020.10:g.48759231_48759232del, NC_000020.10:g.48759232del, NC_000020.10:g.48759232dup, NC_000020.10:g.48759231_48759232dup, NC_000020.10:g.48759230_48759232dup, NC_000020.10:g.48759229_48759232dup, NC_000020.10:g.48759228_48759232dup, NC_000020.10:g.48759226_48759232dup, NC_000020.10:g.48759224_48759232dup, NC_000020.10:g.48759221_48759232dup, NC_000020.10:g.48759220_48759232dup, NC_000020.10:g.48759232_48759233insCCCCCCCCCCCCCCC, NC_000020.10:g.48759232_48759233insCCCCCCCCCCCCCCCC, NC_000020.10:g.48759232_48759233insCCCCCCCCCCCCCCCCC, NC_000020.10:g.48759232_48759233insCCCCCCCCCCCCCCCCCC, NC_000020.10:g.48759232_48759233insCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.48759232_48759233insCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.48759232_48759233insCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.48759232_48759233insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000020.10:g.48759232_48759233insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
3.
rs1491327156 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 20:50136716
(GRCh38)
20:48753253
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50136713:CTCT:CT
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000011/1
(GnomAD)
- HGVS:
4.
rs1491137401 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G,T
[Show Flanks]
- Chromosome:
- 20:50142683
(GRCh38)
20:48759221
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50142683::G,NC_000020.11:50142683::T
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (Varview), LOC124904927 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.00004/1
(TOMMO)
T=0.000053/2
(GnomAD)
- HGVS:
5.
rs1491049111 has merged into rs34069451 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:50135669
(GRCh38)
20:48752206
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:50135658:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
- HGVS:
NC_000020.11:g.50135669_50135682del, NC_000020.11:g.50135670_50135682del, NC_000020.11:g.50135671_50135682del, NC_000020.11:g.50135672_50135682del, NC_000020.11:g.50135673_50135682del, NC_000020.11:g.50135674_50135682del, NC_000020.11:g.50135675_50135682del, NC_000020.11:g.50135676_50135682del, NC_000020.11:g.50135677_50135682del, NC_000020.11:g.50135679_50135682del, NC_000020.11:g.50135681_50135682del, NC_000020.11:g.50135682del, NC_000020.11:g.50135682dup, NC_000020.11:g.50135681_50135682dup, NC_000020.11:g.50135680_50135682dup, NC_000020.11:g.50135679_50135682dup, NC_000020.11:g.50135678_50135682dup, NC_000020.11:g.50135677_50135682dup, NC_000020.11:g.50135676_50135682dup, NC_000020.11:g.50135675_50135682dup, NC_000020.11:g.50135674_50135682dup, NC_000020.11:g.50135673_50135682dup, NC_000020.11:g.50135669_50135682dup, NC_000020.10:g.48752206_48752219del, NC_000020.10:g.48752207_48752219del, NC_000020.10:g.48752208_48752219del, NC_000020.10:g.48752209_48752219del, NC_000020.10:g.48752210_48752219del, NC_000020.10:g.48752211_48752219del, NC_000020.10:g.48752212_48752219del, NC_000020.10:g.48752213_48752219del, NC_000020.10:g.48752214_48752219del, NC_000020.10:g.48752216_48752219del, NC_000020.10:g.48752218_48752219del, NC_000020.10:g.48752219del, NC_000020.10:g.48752219dup, NC_000020.10:g.48752218_48752219dup, NC_000020.10:g.48752217_48752219dup, NC_000020.10:g.48752216_48752219dup, NC_000020.10:g.48752215_48752219dup, NC_000020.10:g.48752214_48752219dup, NC_000020.10:g.48752213_48752219dup, NC_000020.10:g.48752212_48752219dup, NC_000020.10:g.48752211_48752219dup, NC_000020.10:g.48752210_48752219dup, NC_000020.10:g.48752206_48752219dup
6.
rs1490688999 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 20:50153611
(GRCh38)
20:48770148
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50153610:G:A,NC_000020.11:50153610:G:T
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
- HGVS:
NC_000020.11:g.50153611G>A, NC_000020.11:g.50153611G>T, NC_000020.10:g.48770148G>A, NC_000020.10:g.48770148G>T, NM_199129.4:c.27C>T, NM_199129.4:c.27C>A, NM_199129.3:c.27C>T, NM_199129.3:c.27C>A, NM_199129.2:c.27C>T, NM_199129.2:c.27C>A, NM_199203.3:c.27C>T, NM_199203.3:c.27C>A, NM_199203.2:c.27C>T, NM_199203.2:c.27C>A, NR_027889.2:n.113C>T, NR_027889.2:n.113C>A, NR_027889.1:n.188C>T, NR_027889.1:n.188C>A, NM_001162505.2:c.27C>T, NM_001162505.2:c.27C>A, NM_001162505.1:c.27C>T, NM_001162505.1:c.27C>A
7.
rs1490634486 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 20:50141745
(GRCh38)
20:48758282
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50141744:C:A,NC_000020.11:50141744:C:G
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (Varview), LOC124904927 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490597827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:50144030
(GRCh38)
20:48760567
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50144029:T:C
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (Varview), LOC124904927 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
9.
rs1490480643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:50131651
(GRCh38)
20:48748188
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50131650:C:T
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (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:
10.
rs1490434278 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 20:50130417
(GRCh38)
20:48746954
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50130416:C:
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000094/25
(TOPMED)
-=0.000107/15
(GnomAD)
-=0.000625/4
(1000Genomes)
- HGVS:
11.
rs1490370060 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:50146536
(GRCh38)
20:48763073
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50146535:G:C
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490243785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:50139665
(GRCh38)
20:48756202
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50139664:C:T
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490162121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:50153903
(GRCh38)
20:48770440
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50153902:G:A
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490050230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:50128921
(GRCh38)
20:48745458
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50128920:C:T
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0002/1
(
ALFA)
T=0.0002/1
(Estonian)
- HGVS:
16.
rs1489888262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:50127916
(GRCh38)
20:48744453
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50127915:C:T
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (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=0.000071/1
(TOMMO)
- HGVS:
17.
rs1489870543 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:50146941
(GRCh38)
20:48763478
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50146940:T:C
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1489750336 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 20:50139189
(GRCh38)
20:48755726
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50139188:T:G
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1489710085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:50140042
(GRCh38)
20:48756579
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50140041:G:A
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (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:
20.
rs1489516010 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:50138546
(GRCh38)
20:48755083
(GRCh37)
- Canonical SPDI:
- NC_000020.11:50138545:A:G
- Gene:
- PEDS1 (Varview), PEDS1-UBE2V1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00005/7
(GnomAD)
G=0.000068/18
(TOPMED)
- HGVS: