Links from Gene
Items: 1 to 20 of 6506
1.
rs1491479689 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AA,AAA
[Show Flanks]
- Chromosome:
- 13:60695797
(GRCh38)
13:61269932
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60695797::A,NC_000013.11:60695797::AA,NC_000013.11:60695797::AAA
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
AA=0.00111/2
(Korea1K)
AA=0.00857/299
(GnomAD)
- HGVS:
2.
rs1491449295 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 13:60675057
(GRCh38)
13:61249192
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60675057:C:CC
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.005145/23
(
ALFA)
C=0.002816/395
(GnomAD)
C=0.005134/23
(Estonian)
- HGVS:
3.
rs1491385564 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 13:60695797
(GRCh38)
13:61269931
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60695796:GC:
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00021/4
(TOMMO)
- HGVS:
4.
rs1491326914 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CACGTATA,CATGTATA,CATGTATATATACACATATACACACGTATA,CATGTATATATACACATATACACATATACATGTATA,CATGTATATATACACATATACACATATACATGTCTATATACACATATACACCTATA,CATGTATATATACACATATACACGTATA,CGTATA
[Show Flanks]
- Chromosome:
- 13:60681618
(GRCh38)
13:61255753
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60681618:TATA:TATACACGTATA,NC_000013.11:60681618:TATA:TATACATGTATA,NC_000013.11:60681618:TATA:TATACATGTATATATACACATATACACACGTATA,NC_000013.11:60681618:TATA:TATACATGTATATATACACATATACACATATACATGTATA,NC_000013.11:60681618:TATA:TATACATGTATATATACACATATACACATATACATGTCTATATACACATATACACCTATA,NC_000013.11:60681618:TATA:TATACATGTATATATACACATATACACGTATA,NC_000013.11:60681618:TATA:TATACGTATA
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATACATGTATA=0./0
(
ALFA)
TATACATG=0.00011/3
(TOMMO)
- HGVS:
NC_000013.11:g.60681619_60681622TA[2]CACGTATA[1], NC_000013.11:g.60681619_60681622TA[2]CATGTATA[1], NC_000013.11:g.60681619_60681622TA[2]CATGTATATATACACATATACACACGTATA[1], NC_000013.11:g.60681619_60681622TA[2]CATGTATATATACACATATACACATATACATGTATA[1], NC_000013.11:g.60681619_60681622TA[2]CATGTATATATACACATATACACATATACATGTCTATATACACATATACACCTATA[1], NC_000013.11:g.60681619_60681622TA[2]CATGTATATATACACATATACACGTATA[1], NC_000013.11:g.60681619_60681622TA[2]CGTATA[1], NC_000013.10:g.61255753_61255756TA[2]CACGTATA[1], NC_000013.10:g.61255753_61255756TA[2]CATGTATA[1], NC_000013.10:g.61255753_61255756TA[2]CATGTATATATACACATATACACACGTATA[1], NC_000013.10:g.61255753_61255756TA[2]CATGTATATATACACATATACACATATACATGTATA[1], NC_000013.10:g.61255753_61255756TA[2]CATGTATATATACACATATACACATATACATGTCTATATACACATATACACCTATA[1], NC_000013.10:g.61255753_61255756TA[2]CATGTATATATACACATATACACGTATA[1], NC_000013.10:g.61255753_61255756TA[2]CGTATA[1]
5.
rs1491228124 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 13:60680822
(GRCh38)
13:61254957
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60680822::G
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1491222805 has merged into rs3048771 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:60671219
(GRCh38)
13:61245353
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.375/15
(GENOME_DK)
AAA=0.4105/2056
(1000Genomes)
- HGVS:
NC_000013.11:g.60671219_60671224del, NC_000013.11:g.60671220_60671224del, NC_000013.11:g.60671221_60671224del, NC_000013.11:g.60671222_60671224del, NC_000013.11:g.60671223_60671224del, NC_000013.11:g.60671224del, NC_000013.11:g.60671224dup, NC_000013.11:g.60671223_60671224dup, NC_000013.11:g.60671222_60671224dup, NC_000013.10:g.61245353_61245358del, NC_000013.10:g.61245354_61245358del, NC_000013.10:g.61245355_61245358del, NC_000013.10:g.61245356_61245358del, NC_000013.10:g.61245357_61245358del, NC_000013.10:g.61245358del, NC_000013.10:g.61245358dup, NC_000013.10:g.61245357_61245358dup, NC_000013.10:g.61245356_61245358dup
8.
rs1491131068 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 13:60671207
(GRCh38)
13:61245341
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60671206:TA:
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.00002/2
(GnomAD)
- HGVS:
9.
rs1491119915 has merged into rs5804007 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:60695202
(GRCh38)
13:61269336
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60695196:TTTTTTTTTTTTT:TTTTT,NC_000013.11:60695196:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:60695196:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:60695196:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:60695196:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:60695196:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:60695196:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.2548/1276
(1000Genomes)
- HGVS:
NC_000013.11:g.60695202_60695209del, NC_000013.11:g.60695208_60695209del, NC_000013.11:g.60695209del, NC_000013.11:g.60695209dup, NC_000013.11:g.60695208_60695209dup, NC_000013.11:g.60695207_60695209dup, NC_000013.11:g.60695209_60695210insTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.61269336_61269343del, NC_000013.10:g.61269342_61269343del, NC_000013.10:g.61269343del, NC_000013.10:g.61269343dup, NC_000013.10:g.61269342_61269343dup, NC_000013.10:g.61269341_61269343dup, NC_000013.10:g.61269343_61269344insTTTTTTTTTTTTTTTTTTT
10.
rs1491055140 has merged into rs34007540 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:60695811
(GRCh38)
13:61269945
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2752/1378
(1000Genomes)
- HGVS:
NC_000013.11:g.60695811_60695814del, NC_000013.11:g.60695812_60695814del, NC_000013.11:g.60695813_60695814del, NC_000013.11:g.60695814del, NC_000013.11:g.60695814dup, NC_000013.11:g.60695813_60695814dup, NC_000013.11:g.60695812_60695814dup, NC_000013.11:g.60695811_60695814dup, NC_000013.11:g.60695807_60695814dup, NC_000013.11:g.60695806_60695814dup, NC_000013.11:g.60695804_60695814dup, NC_000013.11:g.60695803_60695814dup, NC_000013.11:g.60695814_60695815insAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.61269945_61269948del, NC_000013.10:g.61269946_61269948del, NC_000013.10:g.61269947_61269948del, NC_000013.10:g.61269948del, NC_000013.10:g.61269948dup, NC_000013.10:g.61269947_61269948dup, NC_000013.10:g.61269946_61269948dup, NC_000013.10:g.61269945_61269948dup, NC_000013.10:g.61269941_61269948dup, NC_000013.10:g.61269940_61269948dup, NC_000013.10:g.61269938_61269948dup, NC_000013.10:g.61269937_61269948dup, NC_000013.10:g.61269948_61269949insAAAAAAAAAAAAAAAAAAAAAAA
11.
rs1490978727 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCACAT>-
[Show Flanks]
- Chromosome:
- 13:60681460
(GRCh38)
13:61255594
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60681449:ACATGCACATGCACAT:ACATGCACAT
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACATGCACAT=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
12.
rs1490885601 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:60686471
(GRCh38)
13:61260605
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60686470:C:T
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000142/2
(
ALFA)
T=0.000026/7
(TOPMED)
- HGVS:
13.
rs1490827518 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 13:60673891
(GRCh38)
13:61248025
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60673890:A:T
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
14.
rs1490792086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 13:60672993
(GRCh38)
13:61247127
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60672992:A:T
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
15.
rs1490648223 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:60674367
(GRCh38)
13:61248501
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60674366:G:C
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- 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:
16.
rs1490486216 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:60681898
(GRCh38)
13:61256032
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60681897:A:G
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490457886 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 13:60692701
(GRCh38)
13:61266835
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60692700:G:A,NC_000013.11:60692700:G:T
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000106/2
(TOMMO)
- HGVS:
18.
rs1490445834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:60680621
(GRCh38)
13:61254755
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60680620:C:T
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
19.
rs1490430141 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:60679829
(GRCh38)
13:61253963
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60679828:A:G
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490416162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:60684263
(GRCh38)
13:61258397
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60684262:C:T
- Gene:
- LINC00378 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: