Links from Gene
Items: 1 to 20 of 3471
1.
rs1491580211 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 20:25847831
(GRCh38)
20:25828468
(GRCh37)
- Canonical SPDI:
- NC_000020.11:25847831:TT:TTCTT
- Gene:
- LOC101926935 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTCTT=0./0
(
ALFA)
TTC=0.00221/4
(Korea1K)
- HGVS:
2.
rs1491575248 has merged into rs35184255 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:25851809
(GRCh38)
20:25832445
(GRCh37)
- Canonical SPDI:
- NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC101926935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000020.11:g.25851809_25851812del, NC_000020.11:g.25851810_25851812del, NC_000020.11:g.25851811_25851812del, NC_000020.11:g.25851812del, NC_000020.11:g.25851812dup, NC_000020.11:g.25851811_25851812dup, NC_000020.11:g.25851810_25851812dup, NC_000020.11:g.25851809_25851812dup, NC_000020.11:g.25851808_25851812dup, NC_000020.11:g.25851807_25851812dup, NC_000020.11:g.25851806_25851812dup, NC_000020.11:g.25851804_25851812dup, NC_000020.10:g.25832445_25832448del, NC_000020.10:g.25832446_25832448del, NC_000020.10:g.25832447_25832448del, NC_000020.10:g.25832448del, NC_000020.10:g.25832448dup, NC_000020.10:g.25832447_25832448dup, NC_000020.10:g.25832446_25832448dup, NC_000020.10:g.25832445_25832448dup, NC_000020.10:g.25832444_25832448dup, NC_000020.10:g.25832443_25832448dup, NC_000020.10:g.25832442_25832448dup, NC_000020.10:g.25832440_25832448dup
3.
rs1491461350 has merged into rs568248043 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:25847841
(GRCh38)
20:25828477
(GRCh37)
- Canonical SPDI:
- NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25847830:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC101926935 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000020.11:g.25847841_25847856del, NC_000020.11:g.25847842_25847856del, NC_000020.11:g.25847843_25847856del, NC_000020.11:g.25847844_25847856del, NC_000020.11:g.25847845_25847856del, NC_000020.11:g.25847846_25847856del, NC_000020.11:g.25847847_25847856del, NC_000020.11:g.25847848_25847856del, NC_000020.11:g.25847849_25847856del, NC_000020.11:g.25847850_25847856del, NC_000020.11:g.25847851_25847856del, NC_000020.11:g.25847852_25847856del, NC_000020.11:g.25847853_25847856del, NC_000020.11:g.25847854_25847856del, NC_000020.11:g.25847855_25847856del, NC_000020.11:g.25847856del, NC_000020.11:g.25847856dup, NC_000020.11:g.25847855_25847856dup, NC_000020.11:g.25847854_25847856dup, NC_000020.11:g.25847831_25847856T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.11:g.25847853_25847856dup, NC_000020.11:g.25847852_25847856dup, NC_000020.11:g.25847851_25847856dup, NC_000020.11:g.25847850_25847856dup, NC_000020.11:g.25847849_25847856dup, NC_000020.11:g.25847848_25847856dup, NC_000020.11:g.25847847_25847856dup, NC_000020.11:g.25847846_25847856dup, NC_000020.11:g.25847856_25847857insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.25828477_25828492del, NC_000020.10:g.25828478_25828492del, NC_000020.10:g.25828479_25828492del, NC_000020.10:g.25828480_25828492del, NC_000020.10:g.25828481_25828492del, NC_000020.10:g.25828482_25828492del, NC_000020.10:g.25828483_25828492del, NC_000020.10:g.25828484_25828492del, NC_000020.10:g.25828485_25828492del, NC_000020.10:g.25828486_25828492del, NC_000020.10:g.25828487_25828492del, NC_000020.10:g.25828488_25828492del, NC_000020.10:g.25828489_25828492del, NC_000020.10:g.25828490_25828492del, NC_000020.10:g.25828491_25828492del, NC_000020.10:g.25828492del, NC_000020.10:g.25828492dup, NC_000020.10:g.25828491_25828492dup, NC_000020.10:g.25828490_25828492dup, NC_000020.10:g.25828467_25828492T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000020.10:g.25828489_25828492dup, NC_000020.10:g.25828488_25828492dup, NC_000020.10:g.25828487_25828492dup, NC_000020.10:g.25828486_25828492dup, NC_000020.10:g.25828485_25828492dup, NC_000020.10:g.25828484_25828492dup, NC_000020.10:g.25828483_25828492dup, NC_000020.10:g.25828482_25828492dup, NC_000020.10:g.25828492_25828493insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_110001.1:n.3103_3118del, NR_110001.1:n.3104_3118del, NR_110001.1:n.3105_3118del, NR_110001.1:n.3106_3118del, NR_110001.1:n.3107_3118del, NR_110001.1:n.3108_3118del, NR_110001.1:n.3109_3118del, NR_110001.1:n.3110_3118del, NR_110001.1:n.3111_3118del, NR_110001.1:n.3112_3118del, NR_110001.1:n.3113_3118del, NR_110001.1:n.3114_3118del, NR_110001.1:n.3115_3118del, NR_110001.1:n.3116_3118del, NR_110001.1:n.3117_3118del, NR_110001.1:n.3118del, NR_110001.1:n.3118dup, NR_110001.1:n.3117_3118dup, NR_110001.1:n.3116_3118dup, NR_110001.1:n.3093_3118A[36]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NR_110001.1:n.3115_3118dup, NR_110001.1:n.3114_3118dup, NR_110001.1:n.3113_3118dup, NR_110001.1:n.3112_3118dup, NR_110001.1:n.3111_3118dup, NR_110001.1:n.3110_3118dup, NR_110001.1:n.3109_3118dup, NR_110001.1:n.3108_3118dup, NR_110001.1:n.3118_3119insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
4.
rs1491450179 has merged into rs35482692 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:25849286
(GRCh38)
20:25829922
(GRCh37)
- Canonical SPDI:
- NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25849277:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC101926935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.0128/7
(NorthernSweden)
- HGVS:
NC_000020.11:g.25849286_25849299del, NC_000020.11:g.25849288_25849299del, NC_000020.11:g.25849290_25849299del, NC_000020.11:g.25849291_25849299del, NC_000020.11:g.25849292_25849299del, NC_000020.11:g.25849293_25849299del, NC_000020.11:g.25849294_25849299del, NC_000020.11:g.25849295_25849299del, NC_000020.11:g.25849296_25849299del, NC_000020.11:g.25849297_25849299del, NC_000020.11:g.25849298_25849299del, NC_000020.11:g.25849299del, NC_000020.11:g.25849299dup, NC_000020.11:g.25849298_25849299dup, NC_000020.11:g.25849297_25849299dup, NC_000020.11:g.25849296_25849299dup, NC_000020.11:g.25849295_25849299dup, NC_000020.11:g.25849294_25849299dup, NC_000020.11:g.25849293_25849299dup, NC_000020.11:g.25849286_25849299dup, NC_000020.10:g.25829922_25829935del, NC_000020.10:g.25829924_25829935del, NC_000020.10:g.25829926_25829935del, NC_000020.10:g.25829927_25829935del, NC_000020.10:g.25829928_25829935del, NC_000020.10:g.25829929_25829935del, NC_000020.10:g.25829930_25829935del, NC_000020.10:g.25829931_25829935del, NC_000020.10:g.25829932_25829935del, NC_000020.10:g.25829933_25829935del, NC_000020.10:g.25829934_25829935del, NC_000020.10:g.25829935del, NC_000020.10:g.25829935dup, NC_000020.10:g.25829934_25829935dup, NC_000020.10:g.25829933_25829935dup, NC_000020.10:g.25829932_25829935dup, NC_000020.10:g.25829931_25829935dup, NC_000020.10:g.25829930_25829935dup, NC_000020.10:g.25829929_25829935dup, NC_000020.10:g.25829922_25829935dup
6.
rs1491185656 has merged into rs35184255 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:25851809
(GRCh38)
20:25832445
(GRCh37)
- Canonical SPDI:
- NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:25851796:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC101926935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000020.11:g.25851809_25851812del, NC_000020.11:g.25851810_25851812del, NC_000020.11:g.25851811_25851812del, NC_000020.11:g.25851812del, NC_000020.11:g.25851812dup, NC_000020.11:g.25851811_25851812dup, NC_000020.11:g.25851810_25851812dup, NC_000020.11:g.25851809_25851812dup, NC_000020.11:g.25851808_25851812dup, NC_000020.11:g.25851807_25851812dup, NC_000020.11:g.25851806_25851812dup, NC_000020.11:g.25851804_25851812dup, NC_000020.10:g.25832445_25832448del, NC_000020.10:g.25832446_25832448del, NC_000020.10:g.25832447_25832448del, NC_000020.10:g.25832448del, NC_000020.10:g.25832448dup, NC_000020.10:g.25832447_25832448dup, NC_000020.10:g.25832446_25832448dup, NC_000020.10:g.25832445_25832448dup, NC_000020.10:g.25832444_25832448dup, NC_000020.10:g.25832443_25832448dup, NC_000020.10:g.25832442_25832448dup, NC_000020.10:g.25832440_25832448dup
7.
rs1490736117 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:25848544
(GRCh38)
20:25829180
(GRCh37)
- Canonical SPDI:
- NC_000020.11:25848543:A:G
- Gene:
- LOC101926935 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490684637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 20:25849240
(GRCh38)
20:25829876
(GRCh37)
- Canonical SPDI:
- NC_000020.11:25849239:C:G,NC_000020.11:25849239:C:T
- Gene:
- LOC101926935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
9.
rs1490573361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 20:25848877
(GRCh38)
20:25829513
(GRCh37)
- Canonical SPDI:
- NC_000020.11:25848876:A:C
- Gene:
- LOC101926935 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490445410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:25848664
(GRCh38)
20:25829300
(GRCh37)
- Canonical SPDI:
- NC_000020.11:25848663:G:T
- Gene:
- LOC101926935 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000006/1
(GnomAD_exomes)
- HGVS:
11.
rs1490002987 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:25854539
(GRCh38)
20:25835175
(GRCh37)
- Canonical SPDI:
- NC_000020.11:25854538:G:T
- Gene:
- LOC101926935 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.0246/72
(KOREAN)
- HGVS:
14.
rs1488463673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 20:25845538
(GRCh38)
20:25826174
(GRCh37)
- Canonical SPDI:
- NC_000020.11:25845537:C:G
- Gene:
- LOC101926935 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.0034/10
(KOREAN)
- HGVS:
16.
rs1488140050 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:25844395
(GRCh38)
20:25825031
(GRCh37)
- Canonical SPDI:
- NC_000020.11:25844394:C:A
- Gene:
- LOC101926935 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0./0
(SGDP_PRJ)
A=0.001/12
(TOMMO)
- HGVS:
17.
rs1488080888 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 20:25850124
(GRCh38)
20:25830760
(GRCh37)
- Canonical SPDI:
- NC_000020.11:25850123:G:A,NC_000020.11:25850123:G:T
- Gene:
- LOC101926935 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000035/1
(TOMMO)
A=0.000043/6
(GnomAD)
A=0.000049/13
(TOPMED)
T=0.000342/1
(KOREAN)
- HGVS:
18.
rs1488018577 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:25848317
(GRCh38)
20:25828953
(GRCh37)
- Canonical SPDI:
- NC_000020.11:25848316:A:G
- Gene:
- LOC101926935 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.00006/16
(TOPMED)
G=0.000078/11
(GnomAD)
- HGVS:
19.
rs1487864626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:25852910
(GRCh38)
20:25833546
(GRCh37)
- Canonical SPDI:
- NC_000020.11:25852909:T:C
- Gene:
- LOC101926935 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1487458175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:25854143
(GRCh38)
20:25834779
(GRCh37)
- Canonical SPDI:
- NC_000020.11:25854142:C:T
- Gene:
- LOC101926935 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS: