Links from Gene
Items: 1 to 20 of 2028
1.
rs1491394923 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TA,TTTTTTTTTTA
[Show Flanks]
- Chromosome:
- 9:97129748
(GRCh38)
9:99892031
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97129748::TA,NC_000009.12:97129748::TTTTTTTTTTA
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTTTTTTA=0./0
(
ALFA)
TA=0.0001/5
(GnomAD)
- HGVS:
2.
rs1491338267 has merged into rs766630518 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 9:97129750
(GRCh38)
9:99892032
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97129747:TATA:TA
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATA=0./0
(
ALFA)
-=0.00121/17
(TOMMO)
-=0.00137/66
(GnomAD)
-=0.49611/1912
(ALSPAC)
- HGVS:
3.
rs1491104754 has merged into rs138767875 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACA>-,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA
[Show Flanks]
- Chromosome:
- 9:97128998
(GRCh38)
9:99891280
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97128986:ACACACACACACACACACA:ACACACACACA,NC_000009.12:97128986:ACACACACACACACACACA:ACACACACACACACA,NC_000009.12:97128986:ACACACACACACACACACA:ACACACACACACACACA,NC_000009.12:97128986:ACACACACACACACACACA:ACACACACACACACACACACA,NC_000009.12:97128986:ACACACACACACACACACA:ACACACACACACACACACACACA,NC_000009.12:97128986:ACACACACACACACACACA:ACACACACACACACACACACACACA
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACA=0./0
(
ALFA)
-=0.000042/11
(TOPMED)
AC=0.125/5
(GENOME_DK)
AC=0.193333/116
(NorthernSweden)
AC=0.287141/1438
(1000Genomes)
- HGVS:
NC_000009.12:g.97128988CA[5], NC_000009.12:g.97128988CA[7], NC_000009.12:g.97128988CA[8], NC_000009.12:g.97128988CA[10], NC_000009.12:g.97128988CA[11], NC_000009.12:g.97128988CA[12], NC_000009.11:g.99891270CA[5], NC_000009.11:g.99891270CA[7], NC_000009.11:g.99891270CA[8], NC_000009.11:g.99891270CA[10], NC_000009.11:g.99891270CA[11], NC_000009.11:g.99891270CA[12]
4.
rs1490660501 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:97126601
(GRCh38)
9:99888883
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97126600:A:T
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- 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:
5.
rs1490168792 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:97127254
(GRCh38)
9:99889536
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97127253:A:G
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000036/5
(GnomAD)
G=0.000076/20
(TOPMED)
G=0.000342/1
(KOREAN)
G=0.000425/7
(TOMMO)
G=0.00463/1
(Vietnamese)
- HGVS:
6.
rs1489349357 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:97126477
(GRCh38)
9:99888759
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97126476:C:G,NC_000009.12:97126476:C:T
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489249965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:97127831
(GRCh38)
9:99890113
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97127830:C:T
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
8.
rs1489004890 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:97128982
(GRCh38)
9:99891264
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97128981:C:T
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000038/10
(TOPMED)
T=0.000071/9
(GnomAD)
- HGVS:
9.
rs1488701104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:97131881
(GRCh38)
9:99894163
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97131880:G:T
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1487788666 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:97131596
(GRCh38)
9:99893878
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97131595:G:A
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1487388894 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:97124337
(GRCh38)
9:99886619
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97124336:A:G
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487085033 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:97128852
(GRCh38)
9:99891134
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97128851:G:A
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000093/13
(GnomAD)
A=0.000193/51
(TOPMED)
- HGVS:
14.
rs1486791698 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:97123921
(GRCh38)
9:99886203
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97123920:G:A
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
15.
rs1486717929 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:97127184
(GRCh38)
9:99889466
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97127183:A:G
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- 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:
16.
rs1485565279 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:97130280
(GRCh38)
9:99892562
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97130279:T:C
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000239/4
(TOMMO)
- HGVS:
17.
rs1485220081 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:97129665
(GRCh38)
9:99891947
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97129664:T:A
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.0005/1
(Korea1K)
- HGVS:
19.
rs1484718071 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:97130907
(GRCh38)
9:99893189
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97130906:A:G
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
20.
rs1484585461 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:97130510
(GRCh38)
9:99892792
(GRCh37)
- Canonical SPDI:
- NC_000009.12:97130509:C:A,NC_000009.12:97130509:C:T
- Gene:
- LOC105376166 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
T=0.000047/6
(GnomAD)
- HGVS: