Links from Gene
Items: 1 to 20 of 1000
1.
rs1491587996 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:154145074
(GRCh38)
2:155001587
(GRCh37)
- Canonical SPDI:
- NC_000002.12:154145072:TAT:T
- Gene:
- GALNT13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.123925/1470
(
ALFA)
-=0.025253/15
(NorthernSweden)
-=0.030945/518
(TOMMO)
-=0.04677/4862
(GnomAD)
-=0.395693/1525
(ALSPAC)
-=0.39698/1472
(TWINSUK)
- HGVS:
4.
rs1491570899 has merged into rs35501666 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATA>-,TATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA
[Show Flanks]
- Chromosome:
- 2:154049454
(GRCh38)
2:154905967
(GRCh37)
- Canonical SPDI:
- NC_000002.12:154049446:ATATATATATATA:ATATATA,NC_000002.12:154049446:ATATATATATATA:ATATATATATA,NC_000002.12:154049446:ATATATATATATA:ATATATATATATATA,NC_000002.12:154049446:ATATATATATATA:ATATATATATATATATA,NC_000002.12:154049446:ATATATATATATA:ATATATATATATATATATA,NC_000002.12:154049446:ATATATATATATA:ATATATATATATATATATATA
- Gene:
- GALNT13 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATA=0./0
(
ALFA)
AT=0.1028/22
(Vietnamese)
AT=0.12389/223
(Korea1K)
AT=0.14317/717
(1000Genomes)
AT=0.24667/148
(NorthernSweden)
AT=0.33333/10
(GENOME_DK)
- HGVS:
NC_000002.12:g.154049448TA[3], NC_000002.12:g.154049448TA[5], NC_000002.12:g.154049448TA[7], NC_000002.12:g.154049448TA[8], NC_000002.12:g.154049448TA[9], NC_000002.12:g.154049448TA[10], NC_000002.11:g.154905961TA[3], NC_000002.11:g.154905961TA[5], NC_000002.11:g.154905961TA[7], NC_000002.11:g.154905961TA[8], NC_000002.11:g.154905961TA[9], NC_000002.11:g.154905961TA[10]
5.
rs1491557970 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:154303036
(GRCh38)
2:155159549
(GRCh37)
- Canonical SPDI:
- NC_000002.12:154303033:ATAT:AT
- Gene:
- GALNT13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0./0
(
ALFA)
-=0.000053/14
(TOPMED)
-=0.000064/9
(GnomAD)
- HGVS:
6.
rs1491552854 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AATATATATA
[Show Flanks]
- Chromosome:
- 2:154269907
(GRCh38)
2:155126421
(GRCh37)
- Canonical SPDI:
- NC_000002.12:154269907:ATATATATA:ATATATATAAATATATATA
- Gene:
- GALNT13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATATATATAAATATATATA=0./0
(
ALFA)
- HGVS:
7.
rs1491543149 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TACG
[Show Flanks]
- Chromosome:
- 2:154145120
(GRCh38)
2:155001634
(GRCh37)
- Canonical SPDI:
- NC_000002.12:154145120::TACG
- Gene:
- GALNT13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TACG=0./0
(
ALFA)
TACG=0.000034/4
(GnomAD)
- HGVS:
8.
rs1491541391 has merged into rs5835492 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 2:153943510
(GRCh38)
2:154800023
(GRCh37)
- Canonical SPDI:
- NC_000002.12:153943499:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:153943499:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:153943499:TTTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- GALNT13 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.225/9
(GENOME_DK)
T=0.2295/229
(GoNL)
T=0.2535/940
(TWINSUK)
T=0.2553/984
(ALSPAC)
T=0.2576/1290
(1000Genomes)
T=0.2983/179
(NorthernSweden)
- HGVS:
10.
rs1491538735 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 2:154225159
(GRCh38)
2:155081673
(GRCh37)
- Canonical SPDI:
- NC_000002.12:154225159::C
- Gene:
- GALNT13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.00005/2
(GnomAD)
- HGVS:
11.
rs1491535944 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 2:154037109
(GRCh38)
2:154893623
(GRCh37)
- Canonical SPDI:
- NC_000002.12:154037109:T:TT
- Gene:
- GALNT13 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
12.
rs1491520324 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 2:154303034
(GRCh38)
2:155159548
(GRCh37)
- Canonical SPDI:
- NC_000002.12:154303034:T:TT
- Gene:
- GALNT13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000283/5
(TOMMO)
- HGVS:
14.
rs1491508735 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:154037111
(GRCh38)
2:154893624
(GRCh37)
- Canonical SPDI:
- NC_000002.12:154037108:ATAT:AT
- Gene:
- GALNT13 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
15.
rs1491507063 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 2:153879357
(GRCh38)
2:154735870
(GRCh37)
- Canonical SPDI:
- NC_000002.12:153879356:CG:
- Gene:
- GALNT13 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00025/3
(
ALFA)
-=0.00016/1
(1000Genomes)
-=0.00047/33
(GnomAD)
- HGVS:
16.
rs1491506631 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 2:154098091
(GRCh38)
2:154954605
(GRCh37)
- Canonical SPDI:
- NC_000002.12:154098091:TT:TTCTT
- Gene:
- GALNT13 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTCTT=0./0
(
ALFA)
TTC=0.00071/6
(TOMMO)
TTC=0.00103/23
(GnomAD)
TTC=0.00717/4
(Korea1K)
- HGVS:
18.
rs1491498129 has merged into rs1167875826 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:153899946
(GRCh38)
2:154756459
(GRCh37)
- Canonical SPDI:
- NC_000002.12:153899935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:153899935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:153899935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:153899935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:153899935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:153899935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:153899935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:153899935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:153899935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:153899935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:153899935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:153899935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:153899935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- GALNT13 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.153899946_153899953del, NC_000002.12:g.153899947_153899953del, NC_000002.12:g.153899948_153899953del, NC_000002.12:g.153899949_153899953del, NC_000002.12:g.153899950_153899953del, NC_000002.12:g.153899951_153899953del, NC_000002.12:g.153899952_153899953del, NC_000002.12:g.153899953del, NC_000002.12:g.153899953dup, NC_000002.12:g.153899952_153899953dup, NC_000002.12:g.153899951_153899953dup, NC_000002.12:g.153899950_153899953dup, NC_000002.12:g.153899949_153899953dup, NC_000002.11:g.154756459_154756466del, NC_000002.11:g.154756460_154756466del, NC_000002.11:g.154756461_154756466del, NC_000002.11:g.154756462_154756466del, NC_000002.11:g.154756463_154756466del, NC_000002.11:g.154756464_154756466del, NC_000002.11:g.154756465_154756466del, NC_000002.11:g.154756466del, NC_000002.11:g.154756466dup, NC_000002.11:g.154756465_154756466dup, NC_000002.11:g.154756464_154756466dup, NC_000002.11:g.154756463_154756466dup, NC_000002.11:g.154756462_154756466dup
20.
rs1491490761 has merged into rs397872685 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:154216813
(GRCh38)
2:155073326
(GRCh37)
- Canonical SPDI:
- NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:154216802:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- GALNT13 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.154216813_154216827del, NC_000002.12:g.154216815_154216827del, NC_000002.12:g.154216816_154216827del, NC_000002.12:g.154216817_154216827del, NC_000002.12:g.154216818_154216827del, NC_000002.12:g.154216819_154216827del, NC_000002.12:g.154216820_154216827del, NC_000002.12:g.154216821_154216827del, NC_000002.12:g.154216822_154216827del, NC_000002.12:g.154216823_154216827del, NC_000002.12:g.154216824_154216827del, NC_000002.12:g.154216825_154216827del, NC_000002.12:g.154216826_154216827del, NC_000002.12:g.154216827del, NC_000002.12:g.154216827dup, NC_000002.12:g.154216826_154216827dup, NC_000002.12:g.154216825_154216827dup, NC_000002.12:g.154216824_154216827dup, NC_000002.12:g.154216823_154216827dup, NC_000002.12:g.154216822_154216827dup, NC_000002.12:g.154216821_154216827dup, NC_000002.12:g.154216820_154216827dup, NC_000002.12:g.154216819_154216827dup, NC_000002.12:g.154216818_154216827dup, NC_000002.12:g.154216817_154216827dup, NC_000002.12:g.154216814_154216827dup, NC_000002.12:g.154216811_154216827dup, NC_000002.12:g.154216809_154216827dup, NC_000002.12:g.154216806_154216827dup, NC_000002.12:g.154216827_154216828insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.154216827_154216828insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.154216827_154216828insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.154216827_154216828insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.155073326_155073340del, NC_000002.11:g.155073328_155073340del, NC_000002.11:g.155073329_155073340del, NC_000002.11:g.155073330_155073340del, NC_000002.11:g.155073331_155073340del, NC_000002.11:g.155073332_155073340del, NC_000002.11:g.155073333_155073340del, NC_000002.11:g.155073334_155073340del, NC_000002.11:g.155073335_155073340del, NC_000002.11:g.155073336_155073340del, NC_000002.11:g.155073337_155073340del, NC_000002.11:g.155073338_155073340del, NC_000002.11:g.155073339_155073340del, NC_000002.11:g.155073340del, NC_000002.11:g.155073340dup, NC_000002.11:g.155073339_155073340dup, NC_000002.11:g.155073338_155073340dup, NC_000002.11:g.155073337_155073340dup, NC_000002.11:g.155073336_155073340dup, NC_000002.11:g.155073335_155073340dup, NC_000002.11:g.155073334_155073340dup, NC_000002.11:g.155073333_155073340dup, NC_000002.11:g.155073332_155073340dup, NC_000002.11:g.155073331_155073340dup, NC_000002.11:g.155073330_155073340dup, NC_000002.11:g.155073327_155073340dup, NC_000002.11:g.155073324_155073340dup, NC_000002.11:g.155073322_155073340dup, NC_000002.11:g.155073319_155073340dup, NC_000002.11:g.155073340_155073341insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.155073340_155073341insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.155073340_155073341insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.155073340_155073341insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT