Links from Gene
Items: 1 to 20 of 5756
1.
rs1491548057 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 20:279128
(GRCh38)
20:259769
(GRCh37)
- Canonical SPDI:
- NC_000020.11:279127:TT:
- Gene:
- C20orf96 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000023/3
(GnomAD_exomes)
- HGVS:
2.
rs1491327509 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AAGAAGAAG,AAGAAGAAGGAAG
[Show Flanks]
- Chromosome:
- 20:273881
(GRCh38)
20:254523
(GRCh37)
- Canonical SPDI:
- NC_000020.11:273881::AAGAAGAAG,NC_000020.11:273881::AAGAAGAAGGAAG
- Gene:
- C20orf96 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAGAAGAAG=0.00093/11
(
ALFA)
AAGAAGAAG=0.00002/2
(GnomAD)
- HGVS:
3.
rs1491324312 has merged into rs1237648367 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:288184
(GRCh38)
20:268825
(GRCh37)
- Canonical SPDI:
- NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:288174:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- C20orf96 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000020.11:g.288184_288197del, NC_000020.11:g.288185_288197del, NC_000020.11:g.288189_288197del, NC_000020.11:g.288190_288197del, NC_000020.11:g.288191_288197del, NC_000020.11:g.288192_288197del, NC_000020.11:g.288193_288197del, NC_000020.11:g.288194_288197del, NC_000020.11:g.288195_288197del, NC_000020.11:g.288196_288197del, NC_000020.11:g.288197del, NC_000020.11:g.288197dup, NC_000020.11:g.288196_288197dup, NC_000020.11:g.288175_288197T[25]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.288175_288197T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.288195_288197dup, NC_000020.11:g.288194_288197dup, NC_000020.11:g.288193_288197dup, NC_000020.11:g.288191_288197dup, NC_000020.11:g.288190_288197dup, NC_000020.11:g.288189_288197dup, NC_000020.11:g.288188_288197dup, NC_000020.11:g.288187_288197dup, NC_000020.11:g.288186_288197dup, NC_000020.11:g.288185_288197dup, NC_000020.11:g.288184_288197dup, NC_000020.11:g.288183_288197dup, NC_000020.11:g.288182_288197dup, NC_000020.11:g.288181_288197dup, NC_000020.11:g.288180_288197dup, NC_000020.11:g.288179_288197dup, NC_000020.11:g.288178_288197dup, NC_000020.11:g.288176_288197dup, NC_000020.11:g.288175_288197dup, NC_000020.11:g.288197_288198insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.288197_288198insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.288197_288198insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.288197_288198insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.268825_268838del, NC_000020.10:g.268826_268838del, NC_000020.10:g.268830_268838del, NC_000020.10:g.268831_268838del, NC_000020.10:g.268832_268838del, NC_000020.10:g.268833_268838del, NC_000020.10:g.268834_268838del, NC_000020.10:g.268835_268838del, NC_000020.10:g.268836_268838del, NC_000020.10:g.268837_268838del, NC_000020.10:g.268838del, NC_000020.10:g.268838dup, NC_000020.10:g.268837_268838dup, NC_000020.10:g.268816_268838T[25]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.268816_268838T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.268836_268838dup, NC_000020.10:g.268835_268838dup, NC_000020.10:g.268834_268838dup, NC_000020.10:g.268832_268838dup, NC_000020.10:g.268831_268838dup, NC_000020.10:g.268830_268838dup, NC_000020.10:g.268829_268838dup, NC_000020.10:g.268828_268838dup, NC_000020.10:g.268827_268838dup, NC_000020.10:g.268826_268838dup, NC_000020.10:g.268825_268838dup, NC_000020.10:g.268824_268838dup, NC_000020.10:g.268823_268838dup, NC_000020.10:g.268822_268838dup, NC_000020.10:g.268821_268838dup, NC_000020.10:g.268820_268838dup, NC_000020.10:g.268819_268838dup, NC_000020.10:g.268817_268838dup, NC_000020.10:g.268816_268838dup, NC_000020.10:g.268838_268839insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.268838_268839insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.268838_268839insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.268838_268839insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491256008 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGGGACGG
[Show Flanks]
- Chromosome:
- 20:279128
(GRCh38)
20:259770
(GRCh37)
- Canonical SPDI:
- NC_000020.11:279128:TGGGACGG:TGGGACGGTGGGACGG
- Gene:
- C20orf96 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGGGACGGTGGGACGG=0./0
(
ALFA)
TGGGACGG=0.000004/1
(TOPMED)
TGGGACGG=0.000036/1
(GnomAD)
- HGVS:
6.
rs1490782944 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 20:277260
(GRCh38)
20:257901
(GRCh37)
- Canonical SPDI:
- NC_000020.11:277259:A:G,NC_000020.11:277259:A:T
- Gene:
- C20orf96 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000028/1
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000016/4
(GnomAD_exomes)
- HGVS:
NC_000020.11:g.277260A>G, NC_000020.11:g.277260A>T, NC_000020.10:g.257901A>G, NC_000020.10:g.257901A>T, NM_153269.3:c.689T>C, NM_153269.3:c.689T>A, NM_153269.2:c.689T>C, NM_153269.2:c.689T>A, NM_080571.2:c.686T>C, NM_080571.2:c.686T>A, NM_080571.1:c.686T>C, NM_080571.1:c.686T>A, XM_047439900.1:c.515T>C, XM_047439900.1:c.515T>A, XM_047439896.1:c.410T>C, XM_047439896.1:c.410T>A, XM_047439897.1:c.530T>C, XM_047439897.1:c.530T>A, XM_047439899.1:c.410T>C, XM_047439899.1:c.410T>A, XM_047439898.1:c.515T>C, XM_047439898.1:c.515T>A, NP_695001.2:p.Met230Thr, NP_695001.2:p.Met230Lys, NP_542138.1:p.Met229Thr, NP_542138.1:p.Met229Lys, XP_047295856.1:p.Met172Thr, XP_047295856.1:p.Met172Lys, XP_047295852.1:p.Met137Thr, XP_047295852.1:p.Met137Lys, XP_047295853.1:p.Met177Thr, XP_047295853.1:p.Met177Lys, XP_047295855.1:p.Met137Thr, XP_047295855.1:p.Met137Lys, XP_047295854.1:p.Met172Thr, XP_047295854.1:p.Met172Lys
7.
rs1490677180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:288446
(GRCh38)
20:269087
(GRCh37)
- Canonical SPDI:
- NC_000020.11:288445:T:C
- Gene:
- C20orf96 (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:
8.
rs1490589517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:287337
(GRCh38)
20:267978
(GRCh37)
- Canonical SPDI:
- NC_000020.11:287336:T:C
- Gene:
- C20orf96 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
9.
rs1490504307 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 20:273403
(GRCh38)
20:254044
(GRCh37)
- Canonical SPDI:
- NC_000020.11:273402:A:C
- Gene:
- C20orf96 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490325823 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 20:271048
(GRCh38)
20:251689
(GRCh37)
- Canonical SPDI:
- NC_000020.11:271047:A:C,NC_000020.11:271047:A:G
- Gene:
- C20orf96 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00197/23
(
ALFA)
C=0.00004/1
(GnomAD)
G=0.00031/8
(TOMMO)
G=0.1152/332
(KOREAN)
A=0.5/1
(SGDP_PRJ)
- HGVS:
NC_000020.11:g.271048A>C, NC_000020.11:g.271048A>G, NC_000020.10:g.251689A>C, NC_000020.10:g.251689A>G, NM_153269.3:c.*159T>G, NM_153269.3:c.*159T>C, NM_153269.2:c.*159T>G, NM_153269.2:c.*159T>C, NM_080571.2:c.*159T>G, NM_080571.2:c.*159T>C, NM_080571.1:c.*159T>G, NM_080571.1:c.*159T>C, XM_047439897.1:c.*159T>G, XM_047439897.1:c.*159T>C, XM_047439899.1:c.*159T>G, XM_047439899.1:c.*159T>C, XM_047439898.1:c.*159T>G, XM_047439898.1:c.*159T>C
11.
rs1490135136 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:290771
(GRCh38)
20:271412
(GRCh37)
- Canonical SPDI:
- NC_000020.11:290770:G:A
- Gene:
- C20orf96 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490094822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:276610
(GRCh38)
20:257251
(GRCh37)
- Canonical SPDI:
- NC_000020.11:276609:C:T
- Gene:
- C20orf96 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
13.
rs1490071403 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:277606
(GRCh38)
20:258247
(GRCh37)
- Canonical SPDI:
- NC_000020.11:277605:T:C
- Gene:
- C20orf96 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
C=0.00006/1
(TOMMO)
- HGVS:
16.
rs1489838687 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:270679
(GRCh38)
20:251320
(GRCh37)
- Canonical SPDI:
- NC_000020.11:270678:G:A
- Gene:
- C20orf96 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
17.
rs1489775344 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TC
[Show Flanks]
- Chromosome:
- 20:290702
(GRCh38)
20:271344
(GRCh37)
- Canonical SPDI:
- NC_000020.11:290702:TC:TCTC
- Gene:
- C20orf96 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTC=0.0047/21
(
ALFA)
TC=0.00032/5
(TOMMO)
TC=0.00873/16
(Korea1K)
- HGVS:
20.
rs1489436456 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:274274
(GRCh38)
20:254915
(GRCh37)
- Canonical SPDI:
- NC_000020.11:274273:C:A
- Gene:
- C20orf96 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,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: