Links from Gene
Items: 1 to 20 of 1000
1.
rs1491271315 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 3:126536895
(GRCh38)
3:126255739
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126536895::C
- Gene:
- C3orf22 (Varview), CHST13 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00045/2
(
ALFA)
C=0.000348/39
(GnomAD)
- HGVS:
2.
rs1491262922 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 3:126536896
(GRCh38)
3:126255739
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126536894:AAA:A
- Gene:
- C3orf22 (Varview), CHST13 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.001012/12
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.001053/108
(GnomAD)
- HGVS:
3.
rs1491108407 has merged into rs10670471 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACAC>-,AC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 3:126536905
(GRCh38)
3:126255748
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000003.12:126536896:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- C3orf22 (Varview), CHST13 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACAC=0./0
(
ALFA)
AC=0.2273/876
(ALSPAC)
AC=0.23/853
(TWINSUK)
- HGVS:
NC_000003.12:g.126536897AC[4], NC_000003.12:g.126536897AC[5], NC_000003.12:g.126536897AC[7], NC_000003.12:g.126536897AC[8], NC_000003.12:g.126536897AC[9], NC_000003.12:g.126536897AC[10], NC_000003.12:g.126536897AC[11], NC_000003.12:g.126536897AC[12], NC_000003.12:g.126536897AC[13], NC_000003.12:g.126536897AC[15], NC_000003.12:g.126536897AC[16], NC_000003.12:g.126536897AC[17], NC_000003.12:g.126536897AC[18], NC_000003.12:g.126536897AC[19], NC_000003.12:g.126536897AC[20], NC_000003.12:g.126536897AC[21], NC_000003.12:g.126536897AC[22], NC_000003.12:g.126536897AC[23], NC_000003.12:g.126536897AC[24], NC_000003.11:g.126255740AC[4], NC_000003.11:g.126255740AC[5], NC_000003.11:g.126255740AC[7], NC_000003.11:g.126255740AC[8], NC_000003.11:g.126255740AC[9], NC_000003.11:g.126255740AC[10], NC_000003.11:g.126255740AC[11], NC_000003.11:g.126255740AC[12], NC_000003.11:g.126255740AC[13], NC_000003.11:g.126255740AC[15], NC_000003.11:g.126255740AC[16], NC_000003.11:g.126255740AC[17], NC_000003.11:g.126255740AC[18], NC_000003.11:g.126255740AC[19], NC_000003.11:g.126255740AC[20], NC_000003.11:g.126255740AC[21], NC_000003.11:g.126255740AC[22], NC_000003.11:g.126255740AC[23], NC_000003.11:g.126255740AC[24], NG_029855.1:g.17610AC[4], NG_029855.1:g.17610AC[5], NG_029855.1:g.17610AC[7], NG_029855.1:g.17610AC[8], NG_029855.1:g.17610AC[9], NG_029855.1:g.17610AC[10], NG_029855.1:g.17610AC[11], NG_029855.1:g.17610AC[12], NG_029855.1:g.17610AC[13], NG_029855.1:g.17610AC[15], NG_029855.1:g.17610AC[16], NG_029855.1:g.17610AC[17], NG_029855.1:g.17610AC[18], NG_029855.1:g.17610AC[19], NG_029855.1:g.17610AC[20], NG_029855.1:g.17610AC[21], NG_029855.1:g.17610AC[22], NG_029855.1:g.17610AC[23], NG_029855.1:g.17610AC[24]
5.
rs1490895417 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:126531887
(GRCh38)
3:126250730
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126531886:T:C
- Gene:
- C3orf22 (Varview), CHST13 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490779969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:126523629
(GRCh38)
3:126242472
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126523628:G:A
- Gene:
- CHST13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
- HGVS:
8.
rs1490528615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:126542764
(GRCh38)
3:126261607
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126542763:G:A
- Gene:
- C3orf22 (Varview), CHST13 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490470947 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:126542314
(GRCh38)
3:126261157
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126542313:C:T
- Gene:
- C3orf22 (Varview), CHST13 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000044/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
10.
rs1490305713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:126530153
(GRCh38)
3:126248996
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126530152:G:A
- Gene:
- C3orf22 (Varview), CHST13 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000069/1
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
11.
rs1490298802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:126536841
(GRCh38)
3:126255684
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126536840:C:G
- Gene:
- C3orf22 (Varview), CHST13 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489626970 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-
[Show Flanks]
- Chromosome:
- 3:126543748
(GRCh38)
3:126262591
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126543744:TGTGTGT:TGT
- Gene:
- C3orf22 (Varview), CHST13 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
13.
rs1489542193 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:126543158
(GRCh38)
3:126262001
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126543157:C:G
- Gene:
- C3orf22 (Varview), CHST13 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1489463385 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACAC>-
[Show Flanks]
- Chromosome:
- 3:126539839
(GRCh38)
3:126258682
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126539833:CACACCACAC:CACAC
- Gene:
- C3orf22 (Varview), CHST13 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CACACCACAC=0.00008/1
(
ALFA)
-=0.00002/1
(GnomAD)
- HGVS:
15.
rs1488902064 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:126534728
(GRCh38)
3:126253571
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126534727:G:A,NC_000003.12:126534727:G:C
- Gene:
- C3orf22 (Varview), CHST13 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1488833862 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GGA>-
[Show Flanks]
- Chromosome:
- 3:126525938
(GRCh38)
3:126244781
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126525937:GGA:
- Gene:
- CHST13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
17.
rs1488829898 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:126532134
(GRCh38)
3:126250977
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126532133:G:T
- Gene:
- C3orf22 (Varview), CHST13 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
T=0.000071/1
(TOMMO)
- HGVS:
18.
rs1488827329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:126539911
(GRCh38)
3:126258754
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126539910:A:G
- Gene:
- C3orf22 (Varview), CHST13 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.01876/54
(KOREAN)
- HGVS:
19.
rs1488792223 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:126534738
(GRCh38)
3:126253581
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126534737:C:G
- Gene:
- C3orf22 (Varview), CHST13 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: