Links from Gene
Items: 1 to 20 of 14604
1.
rs1491572270 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 17:27981079
(GRCh38)
17:26308105
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27981078:AA:
- Gene:
- LINC01992 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.001063/128
(GnomAD)
- HGVS:
2.
rs1491564553 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 17:27980022
(GRCh38)
17:26307048
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27980021:AA:
- Gene:
- LINC01992 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000015/2
(GnomAD)
- HGVS:
3.
rs1491535000 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 17:27949735
(GRCh38)
17:26276762
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27949735::G
- Gene:
- LINC01992 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000026/3
(GnomAD)
- HGVS:
4.
rs1491456253 has merged into rs11324076 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:27976146
(GRCh38)
17:26303172
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27976136:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:27976136:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:27976136:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:27976136:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:27976136:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:27976136:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:27976136:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- LINC01992 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.27976146_27976152del, NC_000017.11:g.27976149_27976152del, NC_000017.11:g.27976150_27976152del, NC_000017.11:g.27976151_27976152del, NC_000017.11:g.27976152del, NC_000017.11:g.27976152dup, NC_000017.11:g.27976151_27976152dup, NC_000017.10:g.26303172_26303178del, NC_000017.10:g.26303175_26303178del, NC_000017.10:g.26303176_26303178del, NC_000017.10:g.26303177_26303178del, NC_000017.10:g.26303178del, NC_000017.10:g.26303178dup, NC_000017.10:g.26303177_26303178dup
5.
rs1491440741 has merged into rs796200567 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:27949743
(GRCh38)
17:26276769
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:27949734:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01992 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.27949743_27949751del, NC_000017.11:g.27949750_27949751del, NC_000017.11:g.27949751del, NC_000017.11:g.27949751dup, NC_000017.11:g.27949750_27949751dup, NC_000017.11:g.27949749_27949751dup, NC_000017.11:g.27949744_27949751dup, NC_000017.11:g.27949743_27949751dup, NC_000017.11:g.27949742_27949751dup, NC_000017.11:g.27949751_27949752insTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.27949751_27949752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.26276769_26276777del, NC_000017.10:g.26276776_26276777del, NC_000017.10:g.26276777del, NC_000017.10:g.26276777dup, NC_000017.10:g.26276776_26276777dup, NC_000017.10:g.26276775_26276777dup, NC_000017.10:g.26276770_26276777dup, NC_000017.10:g.26276769_26276777dup, NC_000017.10:g.26276768_26276777dup, NC_000017.10:g.26276777_26276778insTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.26276777_26276778insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
8.
rs1491070342 has merged into rs71359234 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATAT>-,ATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 17:27979874
(GRCh38)
17:26306900
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27979872:TATATATATATATATAT:T,NC_000017.11:27979872:TATATATATATATATAT:TATATATAT,NC_000017.11:27979872:TATATATATATATATAT:TATATATATATAT,NC_000017.11:27979872:TATATATATATATATAT:TATATATATATATAT,NC_000017.11:27979872:TATATATATATATATAT:TATATATATATATATATAT,NC_000017.11:27979872:TATATATATATATATAT:TATATATATATATATATATAT,NC_000017.11:27979872:TATATATATATATATAT:TATATATATATATATATATATAT,NC_000017.11:27979872:TATATATATATATATAT:TATATATATATATATATATATATAT,NC_000017.11:27979872:TATATATATATATATAT:TATATATATATATATATATATATATATAT
- Gene:
- LINC01992 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATAT=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.27979874_27979889del, NC_000017.11:g.27979874AT[4], NC_000017.11:g.27979874AT[6], NC_000017.11:g.27979874AT[7], NC_000017.11:g.27979874AT[9], NC_000017.11:g.27979874AT[10], NC_000017.11:g.27979874AT[11], NC_000017.11:g.27979874AT[12], NC_000017.11:g.27979874AT[14], NC_000017.10:g.26306900_26306915del, NC_000017.10:g.26306900AT[4], NC_000017.10:g.26306900AT[6], NC_000017.10:g.26306900AT[7], NC_000017.10:g.26306900AT[9], NC_000017.10:g.26306900AT[10], NC_000017.10:g.26306900AT[11], NC_000017.10:g.26306900AT[12], NC_000017.10:g.26306900AT[14]
9.
rs1490984089 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:27971822
(GRCh38)
17:26298848
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27971821:T:C
- Gene:
- LINC01992 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000057/8
(GnomAD)
C=0.000132/35
(TOPMED)
C=0.000389/7
(TOMMO)
C=0.000625/4
(1000Genomes)
C=0.000685/2
(KOREAN)
C=0.001092/2
(Korea1K)
- HGVS:
10.
rs1490900358 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:27956893
(GRCh38)
17:26283919
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27956892:T:C
- Gene:
- LINC01992 (Varview), LOC124903962 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490892124 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:27969408
(GRCh38)
17:26296434
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27969407:C:T
- Gene:
- LINC01992 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
12.
rs1490867938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:27957897
(GRCh38)
17:26284923
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27957896:C:G
- Gene:
- LINC01992 (Varview), LOC124903962 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490867262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:27983504
(GRCh38)
17:26310530
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27983503:T:C
- Gene:
- LINC01992 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490793460 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:27987111
(GRCh38)
17:26314137
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27987110:T:C
- Gene:
- LINC01992 (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.
rs1490789521 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CTCCA
[Show Flanks]
- Chromosome:
- 17:27953876
(GRCh38)
17:26280903
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27953876::CTCCA
- Gene:
- LINC01992 (Varview), LOC124903962 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
CTCCA=0.000021/3
(GnomAD)
- HGVS:
17.
rs1490769193 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:27956288
(GRCh38)
17:26283314
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27956287:G:A
- Gene:
- LINC01992 (Varview), LOC124903962 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490630646 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:27971445
(GRCh38)
17:26298471
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27971444:C:A
- Gene:
- LINC01992 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.0006/7
(
ALFA)
A=0.01248/198
(TOMMO)
A=0.11745/342
(KOREAN)
- HGVS:
19.
rs1490627732 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:27986557
(GRCh38)
17:26313583
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27986556:T:C
- Gene:
- LINC01992 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
20.
rs1490545701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:27935468
(GRCh38)
17:26262494
(GRCh37)
- Canonical SPDI:
- NC_000017.11:27935467:G:T
- Gene:
- LINC01992 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS: