Links from Gene
Items: 1 to 20 of 1258
1.
rs1491033958 has merged into rs71267468 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACA
[Show Flanks]
- Chromosome:
- 2:110378987
(GRCh38)
2:111136564
(GRCh37)
- Canonical SPDI:
- NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACA,NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACACA,NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACACACA,NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000002.12:110378975:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA
- Gene:
- LINC01106 (Varview), LIMS4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.110378977CA[5], NC_000002.12:g.110378977CA[6], NC_000002.12:g.110378977CA[7], NC_000002.12:g.110378977CA[8], NC_000002.12:g.110378977CA[9], NC_000002.12:g.110378977CA[10], NC_000002.12:g.110378977CA[11], NC_000002.12:g.110378977CA[12], NC_000002.12:g.110378977CA[14], NC_000002.11:g.111136554CA[5], NC_000002.11:g.111136554CA[6], NC_000002.11:g.111136554CA[7], NC_000002.11:g.111136554CA[8], NC_000002.11:g.111136554CA[9], NC_000002.11:g.111136554CA[10], NC_000002.11:g.111136554CA[11], NC_000002.11:g.111136554CA[12], NC_000002.11:g.111136554CA[14], XM_017003105.3:c.*8285GT[5], XM_017003105.3:c.*8285GT[6], XM_017003105.3:c.*8285GT[7], XM_017003105.3:c.*8285GT[8], XM_017003105.3:c.*8285GT[9], XM_017003105.3:c.*8285GT[10], XM_017003105.3:c.*8285GT[11], XM_017003105.3:c.*8285GT[12], XM_017003105.3:c.*8285GT[14]
3.
rs1490465712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:110382022
(GRCh38)
2:111139599
(GRCh37)
- Canonical SPDI:
- NC_000002.12:110382021:G:A
- Gene:
- LINC01106 (Varview), LIMS4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00014/2
(TOMMO)
- HGVS:
6.
rs1489857105 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:110382110
(GRCh38)
2:111139687
(GRCh37)
- Canonical SPDI:
- NC_000002.12:110382109:T:A
- Gene:
- LINC01106 (Varview), LIMS4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00923/148
(TOMMO)
A=0.0248/637
(GnomAD)
T=0.5/2
(SGDP_PRJ)
- HGVS:
7.
rs1488937859 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 2:110379090
(GRCh38)
2:111136667
(GRCh37)
- Canonical SPDI:
- NC_000002.12:110379089:A:C,NC_000002.12:110379089:A:G
- Gene:
- LINC01106 (Varview), LIMS4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.001056/16
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1488864243 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 2:110385922
(GRCh38)
2:111143499
(GRCh37)
- Canonical SPDI:
- NC_000002.12:110385921:CCC:CC
- Gene:
- LINC01106 (Varview), LIMS4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.00017/2
(
ALFA)
-=0.00072/36
(GnomAD)
- HGVS:
9.
rs1488815032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:110379101
(GRCh38)
2:111136678
(GRCh37)
- Canonical SPDI:
- NC_000002.12:110379100:A:G
- Gene:
- LINC01106 (Varview), LIMS4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1487900259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:110382479
(GRCh38)
2:111140056
(GRCh37)
- Canonical SPDI:
- NC_000002.12:110382478:A:G
- Gene:
- LINC01106 (Varview), LIMS4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00025/3
(
ALFA)
G=0.00031/2
(1000Genomes)
G=0.00073/16
(GnomAD)
- HGVS:
11.
rs1487728771 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:110382153
(GRCh38)
2:111139730
(GRCh37)
- Canonical SPDI:
- NC_000002.12:110382152:AT:
- Gene:
- LINC01106 (Varview), LIMS4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00108/45
(GnomAD)
- HGVS:
12.
rs1487482495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:110386076
(GRCh38)
2:111143653
(GRCh37)
- Canonical SPDI:
- NC_000002.12:110386075:T:C
- Gene:
- LINC01106 (Varview), LIMS4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000036/1
(TOMMO)
- HGVS:
13.
rs1487452509 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:110385380
(GRCh38)
2:111142957
(GRCh37)
- Canonical SPDI:
- NC_000002.12:110385379:G:A,NC_000002.12:110385379:G:C
- Gene:
- LINC01106 (Varview), LIMS4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1486950181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:110375731
(GRCh38)
2:111133308
(GRCh37)
- Canonical SPDI:
- NC_000002.12:110375730:T:C
- Gene:
- LINC01106 (Varview), LIMS4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.0247/293
(
ALFA)
C=0.00118/2
(GnomAD)
C=0.05452/140
(KOREAN)
- HGVS:
16.
rs1486941568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:110377189
(GRCh38)
2:111134766
(GRCh37)
- Canonical SPDI:
- NC_000002.12:110377188:G:A,NC_000002.12:110377188:G:T
- Gene:
- LINC01106 (Varview), LIMS4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000016/2
(GnomAD)
A=0.000036/1
(TOMMO)
- HGVS:
17.
rs1486929954 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:110376541
(GRCh38)
2:111134118
(GRCh37)
- Canonical SPDI:
- NC_000002.12:110376540:C:T
- Gene:
- LINC01106 (Varview), LIMS4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00005/1
(GnomAD)
T=0.00016/1
(1000Genomes)
- HGVS:
19.
rs1485957662 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:110384878
(GRCh38)
2:111142455
(GRCh37)
- Canonical SPDI:
- NC_000002.12:110384877:C:G
- Gene:
- LINC01106 (Varview), LIMS4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00006/2
(GnomAD)
- HGVS: