Links from Nucleotide
Items: 1 to 20 of 387
1.
rs1490780600 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:1043714
(GRCh38)
10:1089654
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1043713:G:A
- Gene:
- IDI1 (Varview), IDI2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD_exomes)
- HGVS:
3.
rs1486180000 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:1043965
(GRCh38)
10:1089905
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1043964:T:C
- Gene:
- IDI1 (Varview), IDI2-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1483583249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:1044159
(GRCh38)
10:1090099
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1044158:C:T
- Gene:
- IDI1 (Varview), IDI2-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000031/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000010.11:g.1044159C>T, NC_000010.10:g.1090099C>T, NM_004508.4:c.153G>A, NM_004508.3:c.153G>A, NM_004508.2:c.153G>A, NM_001317956.2:c.-16G>A, NM_001317956.1:c.-16G>A, NM_001317955.2:c.-16G>A, NM_001317955.1:c.-16G>A, XM_047425176.1:c.-16G>A, NR_027709.1:n.1263C>T, NR_027708.1:n.1179C>T, NR_024628.1:n.1046C>T, NR_024629.1:n.883C>T, NM_018470.1:c.*135C>T
5.
rs1483362574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:1022733
(GRCh38)
10:1068673
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1022732:T:C
- Gene:
- IDI2-AS1 (Varview), IDI2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,non_coding_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:
6.
rs1481349075 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 10:1043641
(GRCh38)
10:1089581
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1043640:A:C
- Gene:
- IDI1 (Varview), IDI2-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD_exomes)
- HGVS:
7.
rs1479426324 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 10:1044074
(GRCh38)
10:1090014
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1044073:G:C
- Gene:
- IDI1 (Varview), IDI2-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000010.11:g.1044074G>C, NC_000010.10:g.1090014G>C, NM_004508.4:c.238C>G, NM_004508.3:c.238C>G, NM_004508.2:c.238C>G, NM_001317956.2:c.70C>G, NM_001317956.1:c.70C>G, NM_001317955.2:c.70C>G, NM_001317955.1:c.70C>G, XM_047425176.1:c.70C>G, NR_027709.1:n.1178G>C, NR_027708.1:n.1094G>C, NR_024628.1:n.961G>C, NR_024629.1:n.798G>C, NM_018470.1:c.*50G>C, NP_004499.2:p.Leu80Val, NP_001304885.1:p.Leu24Val, NP_001304884.1:p.Leu24Val, XP_047281132.1:p.Leu24Val
8.
rs1479343169 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:1043564
(GRCh38)
10:1089504
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1043563:T:C
- Gene:
- IDI1 (Varview), IDI2-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD_exomes)
- HGVS:
9.
rs1478181638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:1035950
(GRCh38)
10:1081890
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1035949:C:T
- Gene:
- IDI2-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000014/2
(GnomAD_exomes)
- HGVS:
10.
rs1475378236 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 10:1035938
(GRCh38)
10:1081878
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1035937:G:T
- Gene:
- IDI2-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1472169801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:1043640
(GRCh38)
10:1089580
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1043639:A:G
- Gene:
- IDI1 (Varview), IDI2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000084/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1470218707 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:1044050
(GRCh38)
10:1089990
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1044049:T:C
- Gene:
- IDI1 (Varview), IDI2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,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:
NC_000010.11:g.1044050T>C, NC_000010.10:g.1089990T>C, NM_004508.4:c.262A>G, NM_004508.3:c.262A>G, NM_004508.2:c.262A>G, NM_001317956.2:c.94A>G, NM_001317956.1:c.94A>G, NM_001317955.2:c.94A>G, NM_001317955.1:c.94A>G, XM_047425176.1:c.94A>G, NR_027709.1:n.1154T>C, NR_027708.1:n.1070T>C, NR_024628.1:n.937T>C, NR_024629.1:n.774T>C, NM_018470.1:c.*26T>C, NP_004499.2:p.Ile88Val, NP_001304885.1:p.Ile32Val, NP_001304884.1:p.Ile32Val, XP_047281132.1:p.Ile32Val
14.
rs1464482350 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 10:1035895
(GRCh38)
10:1081835
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1035894:A:C
- Gene:
- IDI2-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000021/3
(GnomAD_exomes)
- HGVS:
15.
rs1462732162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:1043811
(GRCh38)
10:1089751
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1043810:G:A
- Gene:
- IDI1 (Varview), IDI2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1460271986 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 10:1022655
(GRCh38)
10:1068595
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1022654:A:C,NC_000010.11:1022654:A:G
- Gene:
- IDI2-AS1 (Varview), IDI2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000010.11:g.1022655A>C, NC_000010.11:g.1022655A>G, NC_000010.10:g.1068595A>C, NC_000010.10:g.1068595A>G, NR_027709.1:n.19A>C, NR_027709.1:n.19A>G, NR_027708.1:n.19A>C, NR_027708.1:n.19A>G, NR_024628.1:n.19A>C, NR_024628.1:n.19A>G, NR_024629.1:n.19A>C, NR_024629.1:n.19A>G
17.
rs1459823355 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 10:1043742
(GRCh38)
10:1089682
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1043741:A:T
- Gene:
- IDI1 (Varview), IDI2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD_exomes)
- HGVS:
18.
rs1459792205 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 10:1043930
(GRCh38)
10:1089870
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1043929:T:G
- Gene:
- IDI1 (Varview), IDI2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
19.
rs1454725781 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:1043999
(GRCh38)
10:1089939
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1043998:C:T
- Gene:
- IDI1 (Varview), IDI2-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
T=0.000071/2
(TOMMO)
- HGVS:
NC_000010.11:g.1043999C>T, NC_000010.10:g.1089939C>T, NM_004508.4:c.313G>A, NM_004508.3:c.313G>A, NM_004508.2:c.313G>A, NM_001317956.2:c.145G>A, NM_001317956.1:c.145G>A, NM_001317955.2:c.145G>A, NM_001317955.1:c.145G>A, XM_047425176.1:c.145G>A, NR_027709.1:n.1103C>T, NR_027708.1:n.1019C>T, NR_024628.1:n.886C>T, NR_024629.1:n.723C>T, NM_018470.1:c.542C>T, NP_004499.2:p.Gly105Arg, NP_001304885.1:p.Gly49Arg, NP_001304884.1:p.Gly49Arg, XP_047281132.1:p.Gly49Arg
20.
rs1452022230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:1043799
(GRCh38)
10:1089739
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1043798:C:T
- Gene:
- IDI1 (Varview), IDI2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: