Links from Gene
Items: 1 to 20 of 3217
1.
rs1491544281 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 16:3133770
(GRCh38)
16:3183771
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3133764:ATATATA:ATATA
- Gene:
- ZNF213 (Varview), ZNF213-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ATATA=0./0
(
ALFA)
-=0.000008/1
(GnomAD)
- HGVS:
3.
rs1491367616 has merged into rs1193920893 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:3133728
(GRCh38)
16:3183729
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:3133715:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF213 (Varview), ZNF213-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000016.10:g.3133728_3133731del, NC_000016.10:g.3133729_3133731del, NC_000016.10:g.3133730_3133731del, NC_000016.10:g.3133731del, NC_000016.10:g.3133731dup, NC_000016.10:g.3133730_3133731dup, NC_000016.10:g.3133729_3133731dup, NC_000016.10:g.3133728_3133731dup, NC_000016.10:g.3133727_3133731dup, NC_000016.10:g.3133726_3133731dup, NC_000016.10:g.3133725_3133731dup, NC_000016.10:g.3133724_3133731dup, NC_000016.10:g.3133723_3133731dup, NC_000016.10:g.3133722_3133731dup, NC_000016.10:g.3133721_3133731dup, NC_000016.10:g.3133720_3133731dup, NC_000016.10:g.3133719_3133731dup, NC_000016.10:g.3133717_3133731dup, NC_000016.9:g.3183729_3183732del, NC_000016.9:g.3183730_3183732del, NC_000016.9:g.3183731_3183732del, NC_000016.9:g.3183732del, NC_000016.9:g.3183732dup, NC_000016.9:g.3183731_3183732dup, NC_000016.9:g.3183730_3183732dup, NC_000016.9:g.3183729_3183732dup, NC_000016.9:g.3183728_3183732dup, NC_000016.9:g.3183727_3183732dup, NC_000016.9:g.3183726_3183732dup, NC_000016.9:g.3183725_3183732dup, NC_000016.9:g.3183724_3183732dup, NC_000016.9:g.3183723_3183732dup, NC_000016.9:g.3183722_3183732dup, NC_000016.9:g.3183721_3183732dup, NC_000016.9:g.3183720_3183732dup, NC_000016.9:g.3183718_3183732dup
5.
rs1490934870 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:3128613
(GRCh38)
16:3178614
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3128612:C:T
- Gene:
- ZNF213-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.007187/21
(KOREAN)
C=0.5/1
(SGDP_PRJ)
- HGVS:
6.
rs1490913094 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 16:3129014
(GRCh38)
16:3179015
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3129013:T:A,NC_000016.10:3129013:T:C
- Gene:
- ZNF213-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00003/8
(TOPMED)
- HGVS:
7.
rs1490229639 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:3127648
(GRCh38)
16:3177649
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3127647:A:G
- Gene:
- ZNF213-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490039962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:3133322
(GRCh38)
16:3183323
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3133321:A:G
- Gene:
- ZNF213 (Varview), ZNF213-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000546/1
(Korea1K)
- HGVS:
9.
rs1489921148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:3134298
(GRCh38)
16:3184299
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3134297:G:A,NC_000016.10:3134297:G:T
- Gene:
- ZNF213 (Varview), ZNF213-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489876075 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 16:3133693
(GRCh38)
16:3183695
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3133693:T:TT
- Gene:
- ZNF213 (Varview), ZNF213-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1489847879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:3128436
(GRCh38)
16:3178437
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3128435:T:C
- Gene:
- ZNF213-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1489741314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 16:3128008
(GRCh38)
16:3178009
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3128007:T:A
- Gene:
- ZNF213-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.00005/7
(GnomAD)
- HGVS:
13.
rs1489651175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:3125881
(GRCh38)
16:3175882
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3125880:C:T
- Gene:
- ZNF213-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_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.
rs1489584012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:3131568
(GRCh38)
16:3181569
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3131567:G:C
- Gene:
- ZNF213-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000022/3
(GnomAD)
- HGVS:
15.
rs1489319643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:3134997
(GRCh38)
16:3184998
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3134996:C:G
- Gene:
- ZNF213 (Varview), ZNF213-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1489271515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:3127145
(GRCh38)
16:3177146
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3127144:G:C
- Gene:
- ZNF213-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489163816 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:3132100
(GRCh38)
16:3182101
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3132099:C:A
- Gene:
- ZNF213-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1489104200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:3135151
(GRCh38)
16:3185152
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3135150:C:G
- Gene:
- ZNF213 (Varview), ZNF213-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
NC_000016.10:g.3135151C>G, NC_000016.9:g.3185152C>G, XM_011522652.4:c.-352C>G, XM_011522652.3:c.-352C>G, XM_011522652.2:c.-352C>G, XM_011522652.1:c.-352C>G, NM_004220.3:c.-352C>G, NM_004220.2:c.-352C>G, NR_104432.2:n.123C>G, NR_104432.1:n.96C>G, NM_001134655.2:c.-410C>G, NM_001134655.1:c.-410C>G
19.
rs1489032026 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 16:3135123
(GRCh38)
16:3185124
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3135122:C:A,NC_000016.10:3135122:C:G
- Gene:
- ZNF213 (Varview), ZNF213-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000016.10:g.3135123C>A, NC_000016.10:g.3135123C>G, NC_000016.9:g.3185124C>A, NC_000016.9:g.3185124C>G, XM_011522652.4:c.-380C>A, XM_011522652.4:c.-380C>G, XM_011522652.2:c.-380C>A, XM_011522652.2:c.-380C>G, XM_011522652.1:c.-380C>A, XM_011522652.1:c.-380C>G, NM_004220.3:c.-380C>A, NM_004220.3:c.-380C>G, NM_004220.2:c.-380C>A, NM_004220.2:c.-380C>G, NR_104432.2:n.95C>A, NR_104432.2:n.95C>G, NR_104432.1:n.68C>A, NR_104432.1:n.68C>G, NM_001134655.2:c.-438C>A, NM_001134655.2:c.-438C>G
20.
rs1488551022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:3130507
(GRCh38)
16:3180508
(GRCh37)
- Canonical SPDI:
- NC_000016.10:3130506:G:A
- Gene:
- ZNF213-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00003/8
(TOPMED)
- HGVS: