Links from Gene
Items: 1 to 20 of 775
1.
rs1491238722 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- X:47482610
(GRCh38)
X:47342009
(GRCh37)
- Canonical SPDI:
- NC_000023.11:47482608:GTG:G
- Gene:
- ZNF41 (Varview), LINC01560 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
-=0.036947/137
(TWINSUK)
-=0.040152/116
(ALSPAC)
- HGVS:
2.
rs1490475944 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- X:47481591
(GRCh38)
X:47340990
(GRCh37)
- Canonical SPDI:
- NC_000023.11:47481590:G:
- Gene:
- ZNF41 (Varview), LINC01560 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.00001/1
(GnomAD)
- HGVS:
3.
rs1489164850 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:47483688
(GRCh38)
X:47343087
(GRCh37)
- Canonical SPDI:
- NC_000023.11:47483687:G:A
- Gene:
- ZNF41 (Varview), LINC01560 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
4.
rs1489091089 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:47481552
(GRCh38)
X:47340951
(GRCh37)
- Canonical SPDI:
- NC_000023.11:47481551:T:A
- Gene:
- ZNF41 (Varview), LINC01560 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1488934867 has merged into rs1242128881 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- X:47484983
(GRCh38)
X:47344382
(GRCh37)
- Canonical SPDI:
- NC_000023.11:47484973:AAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:47484973:AAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:47484973:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:47484973:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:47484973:AAAAAAAAAAAA:AAAAAAAAAAAAAA
- Gene:
- ZNF41 (Varview), LINC01560 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.00121/16
(TOMMO)
- HGVS:
NC_000023.11:g.47484983_47484985del, NC_000023.11:g.47484984_47484985del, NC_000023.11:g.47484985del, NC_000023.11:g.47484985dup, NC_000023.11:g.47484984_47484985dup, NC_000023.10:g.47344382_47344384del, NC_000023.10:g.47344383_47344384del, NC_000023.10:g.47344384del, NC_000023.10:g.47344384dup, NC_000023.10:g.47344383_47344384dup, NG_008238.1:g.2971_2973del, NG_008238.1:g.2972_2973del, NG_008238.1:g.2973del, NG_008238.1:g.2973dup, NG_008238.1:g.2972_2973dup, NR_126059.1:n.2268_2270del, NR_126059.1:n.2269_2270del, NR_126059.1:n.2270del, NR_126059.1:n.2270dup, NR_126059.1:n.2269_2270dup
6.
rs1488215376 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:47482484
(GRCh38)
X:47341883
(GRCh37)
- Canonical SPDI:
- NC_000023.11:47482483:T:C
- Gene:
- ZNF41 (Varview), LINC01560 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
NC_000023.11:g.47482484T>C, NC_000023.10:g.47341883T>C, NG_008238.1:g.5463A>G, NM_007130.4:c.-305A>G, NM_007130.3:c.-305A>G, NM_007130.2:c.-305A>G, NM_001324143.2:c.-212A>G, NM_001324143.1:c.-212A>G, XM_006724555.4:c.-315A>G, XM_006724555.3:c.-315A>G, XM_006724555.2:c.-315A>G, XM_006724555.1:c.-315A>G, XM_017029812.2:c.-305A>G, XM_017029812.1:c.-305A>G, XM_017029815.2:c.-215A>G, XM_017029815.1:c.-215A>G, XM_047442475.1:c.-315A>G, XM_047442473.1:c.-225A>G, XM_047442477.1:c.-225A>G, XM_047442481.1:c.-215A>G, XM_047442483.1:c.-228A>G
7.
rs1488111559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:47480748
(GRCh38)
X:47340147
(GRCh37)
- Canonical SPDI:
- NC_000023.11:47480747:T:C
- Gene:
- ZNF41 (Varview), LINC01560 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.00002/2
(GnomAD)
- HGVS:
8.
rs1487543502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:47483829
(GRCh38)
X:47343228
(GRCh37)
- Canonical SPDI:
- NC_000023.11:47483828:T:A
- Gene:
- ZNF41 (Varview), LINC01560 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.000028/3
(GnomAD_exomes)
- HGVS:
9.
rs1487334197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:47483411
(GRCh38)
X:47342810
(GRCh37)
- Canonical SPDI:
- NC_000023.11:47483410:T:C
- Gene:
- ZNF41 (Varview), LINC01560 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000447/2
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
11.
rs1484627503 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:47484061
(GRCh38)
X:47343460
(GRCh37)
- Canonical SPDI:
- NC_000023.11:47484060:G:A
- Gene:
- ZNF41 (Varview), LINC01560 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000214/3
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
- HGVS:
12.
rs1481929847 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:47480945
(GRCh38)
X:47340344
(GRCh37)
- Canonical SPDI:
- NC_000023.11:47480944:T:C
- Gene:
- ZNF41 (Varview), LINC01560 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000029/3
(GnomAD)
- HGVS:
15.
rs1480657996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:47481747
(GRCh38)
X:47341146
(GRCh37)
- Canonical SPDI:
- NC_000023.11:47481746:T:C
- Gene:
- ZNF41 (Varview), LINC01560 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000019/2
(GnomAD)
- HGVS:
17.
rs1479218048 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- X:47483580
(GRCh38)
X:47342979
(GRCh37)
- Canonical SPDI:
- NC_000023.11:47483579:C:A,NC_000023.11:47483579:C:T
- Gene:
- ZNF41 (Varview), LINC01560 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
18.
rs1478952905 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:47484545
(GRCh38)
X:47343944
(GRCh37)
- Canonical SPDI:
- NC_000023.11:47484544:G:C
- Gene:
- ZNF41 (Varview), LINC01560 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000076/20
(TOPMED)
C=0.000107/11
(GnomAD)
- HGVS:
19.
rs1478695138 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CGACCCCTCTCCCGCGGCGGCCG>-
[Show Flanks]
- Chromosome:
- X:47483041
(GRCh38)
X:47342440
(GRCh37)
- Canonical SPDI:
- NC_000023.11:47483039:GCGACCCCTCTCCCGCGGCGGCCG:G
- Gene:
- ZNF41 (Varview), LINC01560 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS: