Links from Gene
Items: 1 to 20 of 1000
1.
rs1491029679 has merged into rs56818648 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 18:35971571
(GRCh38)
18:33551534
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35971562:AAAAAAAAAA:AAAAAAAA,NC_000018.10:35971562:AAAAAAAAAA:AAAAAAAAA,NC_000018.10:35971562:AAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:35971562:AAAAAAAAAA:AAAAAAAAAAAA
- Gene:
- C18orf21 (Varview), LOC105372066 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.15/6
(GENOME_DK)
-=0.281068/74396
(TOPMED)
-=0.281307/1386
(1000Genomes)
- HGVS:
2.
rs1490924076 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 18:35974949
(GRCh38)
18:33554912
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35974947:TCT:T
- Gene:
- C18orf21 (Varview)
- Functional Consequence:
- frameshift_variant,5_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000018.10:g.35974949_35974950del, NC_000018.9:g.33554912_33554913del, XM_005258364.6:c.172_173del, XM_005258364.5:c.172_173del, XM_005258364.4:c.172_173del, XM_005258364.3:c.172_173del, XM_005258364.2:c.172_173del, XM_005258364.1:c.172_173del, NM_031446.5:c.154_155del, NM_031446.4:c.154_155del, NM_001201475.2:c.-111_-110del, NM_001201475.1:c.-111_-110del, NM_001201474.2:c.-111_-110del, NM_001201474.1:c.-111_-110del, NM_001201476.2:c.154_155del, NM_001201476.1:c.154_155del, XP_005258421.1:p.Leu58fs, NP_113634.3:p.Leu52fs, NP_001188405.1:p.Leu52fs
3.
rs1490414582 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:35978534
(GRCh38)
18:33558497
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35978533:C:T
- Gene:
- C18orf21 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490408282 has merged into rs1188761276 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 18:35976151
(GRCh38)
18:33556114
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:35976138:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- C18orf21 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000018.10:g.35976151_35976167del, NC_000018.10:g.35976153_35976167del, NC_000018.10:g.35976154_35976167del, NC_000018.10:g.35976155_35976167del, NC_000018.10:g.35976156_35976167del, NC_000018.10:g.35976157_35976167del, NC_000018.10:g.35976158_35976167del, NC_000018.10:g.35976159_35976167del, NC_000018.10:g.35976160_35976167del, NC_000018.10:g.35976161_35976167del, NC_000018.10:g.35976162_35976167del, NC_000018.10:g.35976163_35976167del, NC_000018.10:g.35976164_35976167del, NC_000018.10:g.35976165_35976167del, NC_000018.10:g.35976166_35976167del, NC_000018.10:g.35976167del, NC_000018.10:g.35976167dup, NC_000018.10:g.35976166_35976167dup, NC_000018.10:g.35976165_35976167dup, NC_000018.10:g.35976164_35976167dup, NC_000018.10:g.35976163_35976167dup, NC_000018.10:g.35976162_35976167dup, NC_000018.10:g.35976161_35976167dup, NC_000018.10:g.35976160_35976167dup, NC_000018.10:g.35976159_35976167dup, NC_000018.10:g.35976158_35976167dup, NC_000018.10:g.35976157_35976167dup, NC_000018.10:g.35976156_35976167dup, NC_000018.10:g.35976155_35976167dup, NC_000018.10:g.35976154_35976167dup, NC_000018.10:g.35976153_35976167dup, NC_000018.10:g.35976152_35976167dup, NC_000018.10:g.35976147_35976167dup, NC_000018.10:g.35976139_35976167T[52]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.10:g.35976167_35976168insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.35976167_35976168insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.33556114_33556130del, NC_000018.9:g.33556116_33556130del, NC_000018.9:g.33556117_33556130del, NC_000018.9:g.33556118_33556130del, NC_000018.9:g.33556119_33556130del, NC_000018.9:g.33556120_33556130del, NC_000018.9:g.33556121_33556130del, NC_000018.9:g.33556122_33556130del, NC_000018.9:g.33556123_33556130del, NC_000018.9:g.33556124_33556130del, NC_000018.9:g.33556125_33556130del, NC_000018.9:g.33556126_33556130del, NC_000018.9:g.33556127_33556130del, NC_000018.9:g.33556128_33556130del, NC_000018.9:g.33556129_33556130del, NC_000018.9:g.33556130del, NC_000018.9:g.33556130dup, NC_000018.9:g.33556129_33556130dup, NC_000018.9:g.33556128_33556130dup, NC_000018.9:g.33556127_33556130dup, NC_000018.9:g.33556126_33556130dup, NC_000018.9:g.33556125_33556130dup, NC_000018.9:g.33556124_33556130dup, NC_000018.9:g.33556123_33556130dup, NC_000018.9:g.33556122_33556130dup, NC_000018.9:g.33556121_33556130dup, NC_000018.9:g.33556120_33556130dup, NC_000018.9:g.33556119_33556130dup, NC_000018.9:g.33556118_33556130dup, NC_000018.9:g.33556117_33556130dup, NC_000018.9:g.33556116_33556130dup, NC_000018.9:g.33556115_33556130dup, NC_000018.9:g.33556110_33556130dup, NC_000018.9:g.33556102_33556130T[52]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000018.9:g.33556130_33556131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.33556130_33556131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1490084062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:35975123
(GRCh38)
18:33555086
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35975122:G:A
- Gene:
- C18orf21 (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:
6.
rs1489766542 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 18:35974434
(GRCh38)
18:33554397
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35974433:G:C
- Gene:
- C18orf21 (Varview), LOC105372066 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
7.
rs1489411415 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 18:35974267
(GRCh38)
18:33554230
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35974266:G:C
- Gene:
- C18orf21 (Varview), LOC105372066 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489326099 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:35970639
(GRCh38)
18:33550602
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35970638:T:C
- Gene:
- LOC105372066 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000023/6
(TOPMED)
C=0.000212/4
(TOMMO)
C=0.000312/2
(1000Genomes)
C=0.000546/1
(Korea1K)
C=0.001027/3
(KOREAN)
- HGVS:
9.
rs1489008292 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:35978260
(GRCh38)
18:33558223
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35978259:C:T
- Gene:
- C18orf21 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1487903887 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TGA>-
[Show Flanks]
- Chromosome:
- 18:35976167
(GRCh38)
18:33556130
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35976166:TGA:
- Gene:
- C18orf21 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00079/13
(TOMMO)
- HGVS:
11.
rs1487803022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:35975477
(GRCh38)
18:33555440
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35975476:A:G
- Gene:
- C18orf21 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
12.
rs1487801036 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 18:35977584
(GRCh38)
18:33557547
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35977583:C:G
- Gene:
- C18orf21 (Varview)
- Functional Consequence:
- missense_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
NC_000018.10:g.35977584C>G, NC_000018.9:g.33557547C>G, XM_005258364.6:c.493C>G, XM_005258364.5:c.493C>G, XM_005258364.4:c.493C>G, XM_005258364.3:c.493C>G, XM_005258364.2:c.493C>G, XM_005258364.1:c.493C>G, NM_031446.5:c.475C>G, NM_031446.4:c.475C>G, NM_001201475.2:c.211C>G, NM_001201475.1:c.211C>G, NM_001201474.2:c.211C>G, NM_001201474.1:c.211C>G, XP_005258421.1:p.Pro165Ala, NP_113634.3:p.Pro159Ala, NP_001188404.1:p.Pro71Ala, NP_001188403.1:p.Pro71Ala
13.
rs1487092804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 18:35974946
(GRCh38)
18:33554909
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35974945:G:A,NC_000018.10:35974945:G:C
- Gene:
- C18orf21 (Varview)
- Functional Consequence:
- missense_variant,5_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000018.10:g.35974946G>A, NC_000018.10:g.35974946G>C, NC_000018.9:g.33554909G>A, NC_000018.9:g.33554909G>C, XM_005258364.6:c.169G>A, XM_005258364.6:c.169G>C, XM_005258364.5:c.169G>A, XM_005258364.5:c.169G>C, XM_005258364.4:c.169G>A, XM_005258364.4:c.169G>C, XM_005258364.3:c.169G>A, XM_005258364.3:c.169G>C, XM_005258364.2:c.169G>A, XM_005258364.2:c.169G>C, XM_005258364.1:c.169G>A, XM_005258364.1:c.169G>C, NM_031446.5:c.151G>A, NM_031446.5:c.151G>C, NM_031446.4:c.151G>A, NM_031446.4:c.151G>C, NM_001201475.2:c.-114G>A, NM_001201475.2:c.-114G>C, NM_001201475.1:c.-114G>A, NM_001201475.1:c.-114G>C, NM_001201474.2:c.-114G>A, NM_001201474.2:c.-114G>C, NM_001201474.1:c.-114G>A, NM_001201474.1:c.-114G>C, NM_001201476.2:c.151G>A, NM_001201476.2:c.151G>C, NM_001201476.1:c.151G>A, NM_001201476.1:c.151G>C, XP_005258421.1:p.Val57Ile, XP_005258421.1:p.Val57Leu, NP_113634.3:p.Val51Ile, NP_113634.3:p.Val51Leu, NP_001188405.1:p.Val51Ile, NP_001188405.1:p.Val51Leu
14.
rs1486331796 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 18:35977608
(GRCh38)
18:33557571
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35977607:A:C
- Gene:
- C18orf21 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1486257090 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 18:35979532
(GRCh38)
18:33559495
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35979531:CC:C
- Gene:
- C18orf21 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
17.
rs1485970670 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 18:35972301
(GRCh38)
18:33552265
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35972301:AA:AAA
- Gene:
- C18orf21 (Varview), LOC105372066 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
18.
rs1485268485 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 18:35971158
(GRCh38)
18:33551121
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35971157:C:
- Gene:
- C18orf21 (Varview), LOC105372066 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000036/5
(GnomAD)
-=0.000042/11
(TOPMED)
- HGVS:
19.
rs1484941643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:35971666
(GRCh38)
18:33551629
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35971665:G:A
- Gene:
- C18orf21 (Varview), LOC105372066 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1484781887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:35971263
(GRCh38)
18:33551226
(GRCh37)
- Canonical SPDI:
- NC_000018.10:35971262:G:A
- Gene:
- C18orf21 (Varview), LOC105372066 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000248/4
(TOMMO)
A=0.000684/2
(KOREAN)
A=0.001092/2
(Korea1K)
- HGVS: