Links from Gene
Items: 1 to 20 of 2087
1.
rs1490888143 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 4:146053595
(GRCh38)
4:146974747
(GRCh37)
- Canonical SPDI:
- NC_000004.12:146053594:CC:C
- Gene:
- LOC105377468 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490690418 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:146057160
(GRCh38)
4:146978312
(GRCh37)
- Canonical SPDI:
- NC_000004.12:146057159:A:G
- Gene:
- LOC105377468 (Varview)
- Functional Consequence:
- intron_variant,non_coding_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:
3.
rs1489910312 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:146052797
(GRCh38)
4:146973949
(GRCh37)
- Canonical SPDI:
- NC_000004.12:146052796:C:T
- Gene:
- LOC105377468 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
5.
rs1489417640 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:146059818
(GRCh38)
4:146980970
(GRCh37)
- Canonical SPDI:
- NC_000004.12:146059817:T:G
- Gene:
- LOC105377468 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1488975127 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:146053025
(GRCh38)
4:146974177
(GRCh37)
- Canonical SPDI:
- NC_000004.12:146053024:G:A,NC_000004.12:146053024:G:T
- Gene:
- LOC105377468 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
NC_000004.12:g.146053025G>A, NC_000004.12:g.146053025G>T, NC_000004.11:g.146974177G>A, NC_000004.11:g.146974177G>T, XR_001741868.2:n.3616C>T, XR_001741868.2:n.3616C>A, XR_001741868.1:n.4850C>T, XR_001741868.1:n.4850C>A, XR_007058297.1:n.3704C>T, XR_007058297.1:n.3704C>A, XR_007058300.1:n.3639C>T, XR_007058300.1:n.3639C>A, XR_007058296.1:n.3616C>T, XR_007058296.1:n.3616C>A, XR_007058298.1:n.3616C>T, XR_007058298.1:n.3616C>A, XR_007058299.1:n.3616C>T, XR_007058299.1:n.3616C>A, XR_007058301.1:n.3466C>T, XR_007058301.1:n.3466C>A
7.
rs1488077307 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:146054585
(GRCh38)
4:146975737
(GRCh37)
- Canonical SPDI:
- NC_000004.12:146054584:G:T
- Gene:
- LOC105377468 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000004.12:g.146054585G>T, NC_000004.11:g.146975737G>T, NG_083498.1:g.465G>T, XR_001741868.2:n.2056C>A, XR_001741868.1:n.3290C>A, XR_007058303.1:n.3173C>A, XR_007058297.1:n.2144C>A, XR_007058300.1:n.2079C>A, XR_007058296.1:n.2056C>A, XR_007058298.1:n.2056C>A, XR_007058299.1:n.2056C>A, XR_007058301.1:n.1906C>A, XR_007058302.1:n.3173C>A
8.
rs1487962432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:146058157
(GRCh38)
4:146979309
(GRCh37)
- Canonical SPDI:
- NC_000004.12:146058156:C:T
- Gene:
- LOC105377468 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1487883806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 4:146055577
(GRCh38)
4:146976729
(GRCh37)
- Canonical SPDI:
- NC_000004.12:146055576:T:C,NC_000004.12:146055576:T:G
- Gene:
- LOC105377468 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000004.12:g.146055577T>C, NC_000004.12:g.146055577T>G, NC_000004.11:g.146976729T>C, NC_000004.11:g.146976729T>G, XR_001741868.2:n.1064A>G, XR_001741868.2:n.1064A>C, XR_001741868.1:n.2298A>G, XR_001741868.1:n.2298A>C, XR_007058303.1:n.2181A>G, XR_007058303.1:n.2181A>C, XR_007058297.1:n.1152A>G, XR_007058297.1:n.1152A>C, XR_007058300.1:n.1087A>G, XR_007058300.1:n.1087A>C, XR_007058296.1:n.1064A>G, XR_007058296.1:n.1064A>C, XR_007058298.1:n.1064A>G, XR_007058298.1:n.1064A>C, XR_007058299.1:n.1064A>G, XR_007058299.1:n.1064A>C, XR_007058301.1:n.914A>G, XR_007058301.1:n.914A>C, XR_007058302.1:n.2181A>G, XR_007058302.1:n.2181A>C
10.
rs1487650958 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:146059097
(GRCh38)
4:146980249
(GRCh37)
- Canonical SPDI:
- NC_000004.12:146059096:T:C
- Gene:
- LOC105377468 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1487644710 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:146053649
(GRCh38)
4:146974801
(GRCh37)
- Canonical SPDI:
- NC_000004.12:146053648:T:A
- Gene:
- LOC105377468 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1486991482 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 4:146055713
(GRCh38)
4:146976866
(GRCh37)
- Canonical SPDI:
- NC_000004.12:146055713:AAA:AAAA
- Gene:
- LOC105377468 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0.000054/1
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000029/4
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
NC_000004.12:g.146055716dup, NC_000004.11:g.146976868dup, XR_001741868.2:n.927dup, XR_001741868.1:n.2161dup, XR_007058303.1:n.2044dup, XR_007058297.1:n.1015dup, XR_007058300.1:n.950dup, XR_007058296.1:n.927dup, XR_007058298.1:n.927dup, XR_007058299.1:n.927dup, XR_007058301.1:n.777dup, XR_007058302.1:n.2044dup
14.
rs1486415197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:146056541
(GRCh38)
4:146977693
(GRCh37)
- Canonical SPDI:
- NC_000004.12:146056540:T:C
- Gene:
- LOC105377468 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1485712124 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:146060864
(GRCh38)
4:146982016
(GRCh37)
- Canonical SPDI:
- NC_000004.12:146060863:G:A
- Gene:
- LOC105377468 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1485008821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:146056768
(GRCh38)
4:146977920
(GRCh37)
- Canonical SPDI:
- NC_000004.12:146056767:G:A
- Gene:
- LOC105377468 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1484461353 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:146055699
(GRCh38)
4:146976851
(GRCh37)
- Canonical SPDI:
- NC_000004.12:146055698:A:G
- Gene:
- LOC105377468 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000004.12:g.146055699A>G, NC_000004.11:g.146976851A>G, XR_001741868.2:n.942T>C, XR_001741868.1:n.2176T>C, XR_007058303.1:n.2059T>C, XR_007058297.1:n.1030T>C, XR_007058300.1:n.965T>C, XR_007058296.1:n.942T>C, XR_007058298.1:n.942T>C, XR_007058299.1:n.942T>C, XR_007058301.1:n.792T>C, XR_007058302.1:n.2059T>C
20.
rs1484430106 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:146056644
(GRCh38)
4:146977796
(GRCh37)
- Canonical SPDI:
- NC_000004.12:146056643:A:G
- Gene:
- LOC105377468 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS: