Links from Gene
Items: 1 to 20 of 9911
1.
rs1491556919 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 19:52939234
(GRCh38)
19:53442487
(GRCh37)
- Canonical SPDI:
- NC_000019.10:52939232:AGA:A
- Gene:
- ZNF321P (Varview), ZNF816-ZNF321P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
-=0.000155/21
(GnomAD)
- HGVS:
3.
rs1491536082 has merged into rs61012425 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:52943239
(GRCh38)
19:53446492
(GRCh37)
- Canonical SPDI:
- NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTT,NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTTT,NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTTTT,NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- ZNF321P (Varview), ZNF816-ZNF321P (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.52943239_52943242del, NC_000019.10:g.52943240_52943242del, NC_000019.10:g.52943241_52943242del, NC_000019.10:g.52943242del, NC_000019.10:g.52943242dup, NC_000019.10:g.52943241_52943242dup, NC_000019.10:g.52943240_52943242dup, NC_000019.10:g.52943239_52943242dup, NC_000019.10:g.52943238_52943242dup, NC_000019.9:g.53446492_53446495del, NC_000019.9:g.53446493_53446495del, NC_000019.9:g.53446494_53446495del, NC_000019.9:g.53446495del, NC_000019.9:g.53446495dup, NC_000019.9:g.53446494_53446495dup, NC_000019.9:g.53446493_53446495dup, NC_000019.9:g.53446492_53446495dup, NC_000019.9:g.53446491_53446495dup
4.
rs1491457921 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATATATATTATATA
[Show Flanks]
- Chromosome:
- 19:52953515
(GRCh38)
19:53456769
(GRCh37)
- Canonical SPDI:
- NC_000019.10:52953515:TATATA:TATATAATATATATTATATA
- Gene:
- ZNF816 (Varview), ZNF816-ZNF321P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATATAATATATATTATATA=0./0
(
ALFA)
- HGVS:
5.
rs1491426738 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 19:52943232
(GRCh38)
19:53446486
(GRCh37)
- Canonical SPDI:
- NC_000019.10:52943232::C
- Gene:
- ZNF321P (Varview), ZNF816-ZNF321P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
- HGVS:
6.
rs1491387878 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATA>-,TA
[Show Flanks]
- Chromosome:
- 19:52953511
(GRCh38)
19:53456764
(GRCh37)
- Canonical SPDI:
- NC_000019.10:52953506:TATATATA:TATA,NC_000019.10:52953506:TATATATA:TATATA
- Gene:
- ZNF816 (Varview), ZNF816-ZNF321P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATA=0./0
(
ALFA)
-=0.01464/1289
(GnomAD)
- HGVS:
7.
rs1491344208 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 19:52937131
(GRCh38)
19:53440384
(GRCh37)
- Canonical SPDI:
- NC_000019.10:52937130:GG:
- Gene:
- ZNF321P (Varview), ZNF816-ZNF321P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
10.
rs1491295243 has merged into rs34857158 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:52941840
(GRCh38)
19:53445093
(GRCh37)
- Canonical SPDI:
- NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF321P (Varview), ZNF816-ZNF321P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
TT=0.1506/754
(1000Genomes)
- HGVS:
NC_000019.10:g.52941840_52941849del, NC_000019.10:g.52941841_52941849del, NC_000019.10:g.52941842_52941849del, NC_000019.10:g.52941843_52941849del, NC_000019.10:g.52941844_52941849del, NC_000019.10:g.52941845_52941849del, NC_000019.10:g.52941846_52941849del, NC_000019.10:g.52941847_52941849del, NC_000019.10:g.52941848_52941849del, NC_000019.10:g.52941849del, NC_000019.10:g.52941849dup, NC_000019.10:g.52941848_52941849dup, NC_000019.10:g.52941847_52941849dup, NC_000019.10:g.52941844_52941849dup, NC_000019.9:g.53445093_53445102del, NC_000019.9:g.53445094_53445102del, NC_000019.9:g.53445095_53445102del, NC_000019.9:g.53445096_53445102del, NC_000019.9:g.53445097_53445102del, NC_000019.9:g.53445098_53445102del, NC_000019.9:g.53445099_53445102del, NC_000019.9:g.53445100_53445102del, NC_000019.9:g.53445101_53445102del, NC_000019.9:g.53445102del, NC_000019.9:g.53445102dup, NC_000019.9:g.53445101_53445102dup, NC_000019.9:g.53445100_53445102dup, NC_000019.9:g.53445097_53445102dup
11.
rs1491270016 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 19:52951007
(GRCh38)
19:53454260
(GRCh37)
- Canonical SPDI:
- NC_000019.10:52951006:TT:
- Gene:
- ZNF816 (Varview), ZNF816-ZNF321P (Varview)
- Functional Consequence:
- frameshift_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000094/1
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000008/1
(ExAC)
-=0.000011/3
(TOPMED)
- HGVS:
NC_000019.10:g.52951007_52951008del, NC_000019.9:g.53454260_53454261del, NM_001031665.4:c.767_768del, NM_001031665.3:c.767_768del, NM_001031665.2:c.767_768del, NM_001202456.3:c.767_768del, NM_001202456.2:c.767_768del, NM_001202456.1:c.767_768del, NM_001202457.3:c.767_768del, NM_001202457.2:c.767_768del, NM_001202457.1:c.767_768del, NP_001026835.1:p.Glu256fs, NP_001189385.1:p.Glu256fs, NP_001189386.1:p.Glu256fs
12.
rs1491202610 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AATC
[Show Flanks]
- Chromosome:
- 19:52941577
(GRCh38)
19:53444831
(GRCh37)
- Canonical SPDI:
- NC_000019.10:52941577:AATC:AATCAATC
- Gene:
- ZNF321P (Varview), ZNF816-ZNF321P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AATCAATC=0./0
(
ALFA)
AATC=0.000004/1
(TOPMED)
- HGVS:
13.
rs1491077640 has merged into rs113771653 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA
[Show Flanks]
- Chromosome:
- 19:52964474
(GRCh38)
19:53467727
(GRCh37)
- Canonical SPDI:
- NC_000019.10:52964470:AAAAAA:AAA,NC_000019.10:52964470:AAAAAA:AAAA,NC_000019.10:52964470:AAAAAA:AAAAA,NC_000019.10:52964470:AAAAAA:AAAAAAA
- Gene:
- ZNF816 (Varview), ZNF816-ZNF321P (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
-=0.00328/6
(Korea1K)
-=0.01738/291
(TOMMO)
- HGVS:
15.
rs1490943120 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:52950215
(GRCh38)
19:53453468
(GRCh37)
- Canonical SPDI:
- NC_000019.10:52950214:G:C
- Gene:
- ZNF816 (Varview), ZNF816-ZNF321P (Varview)
- Functional Consequence:
- synonymous_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.52950215G>C, NC_000019.9:g.53453468G>C, NM_001031665.4:c.1560C>G, NM_001031665.3:c.1560C>G, NM_001031665.2:c.1560C>G, NM_001202456.3:c.1560C>G, NM_001202456.2:c.1560C>G, NM_001202456.1:c.1560C>G, NM_001202457.3:c.1560C>G, NM_001202457.2:c.1560C>G, NM_001202457.1:c.1560C>G
16.
rs1490907899 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:52931323
(GRCh38)
19:53434576
(GRCh37)
- Canonical SPDI:
- NC_000019.10:52931322:G:A
- Gene:
- ZNF321P (Varview), ZNF816-ZNF321P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490885352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:52944752
(GRCh38)
19:53448005
(GRCh37)
- Canonical SPDI:
- NC_000019.10:52944751:C:T
- Gene:
- ZNF816-ZNF321P (Varview), LOC124904761 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,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:
18.
rs1490868132 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:52957681
(GRCh38)
19:53460934
(GRCh37)
- Canonical SPDI:
- NC_000019.10:52957680:A:C
- Gene:
- ZNF816 (Varview), ZNF816-ZNF321P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490842840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:52958706
(GRCh38)
19:53461959
(GRCh37)
- Canonical SPDI:
- NC_000019.10:52958705:C:A
- Gene:
- ZNF816 (Varview), ZNF816-ZNF321P (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.
rs1490718871 has merged into rs1005675486 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:52927119
(GRCh38)
19:53430372
(GRCh37)
- Canonical SPDI:
- NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF321P (Varview), ZNF816-ZNF321P (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.52927119_52927134del, NC_000019.10:g.52927120_52927134del, NC_000019.10:g.52927122_52927134del, NC_000019.10:g.52927123_52927134del, NC_000019.10:g.52927124_52927134del, NC_000019.10:g.52927125_52927134del, NC_000019.10:g.52927126_52927134del, NC_000019.10:g.52927127_52927134del, NC_000019.10:g.52927128_52927134del, NC_000019.10:g.52927129_52927134del, NC_000019.10:g.52927130_52927134del, NC_000019.10:g.52927131_52927134del, NC_000019.10:g.52927132_52927134del, NC_000019.10:g.52927133_52927134del, NC_000019.10:g.52927134del, NC_000019.10:g.52927134dup, NC_000019.10:g.52927133_52927134dup, NC_000019.10:g.52927132_52927134dup, NC_000019.10:g.52927131_52927134dup, NC_000019.10:g.52927130_52927134dup, NC_000019.10:g.52927129_52927134dup, NC_000019.10:g.52927128_52927134dup, NC_000019.10:g.52927134_52927135insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.53430372_53430387del, NC_000019.9:g.53430373_53430387del, NC_000019.9:g.53430375_53430387del, NC_000019.9:g.53430376_53430387del, NC_000019.9:g.53430377_53430387del, NC_000019.9:g.53430378_53430387del, NC_000019.9:g.53430379_53430387del, NC_000019.9:g.53430380_53430387del, NC_000019.9:g.53430381_53430387del, NC_000019.9:g.53430382_53430387del, NC_000019.9:g.53430383_53430387del, NC_000019.9:g.53430384_53430387del, NC_000019.9:g.53430385_53430387del, NC_000019.9:g.53430386_53430387del, NC_000019.9:g.53430387del, NC_000019.9:g.53430387dup, NC_000019.9:g.53430386_53430387dup, NC_000019.9:g.53430385_53430387dup, NC_000019.9:g.53430384_53430387dup, NC_000019.9:g.53430383_53430387dup, NC_000019.9:g.53430382_53430387dup, NC_000019.9:g.53430381_53430387dup, NC_000019.9:g.53430387_53430388insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT