Links from Gene
Items: 1 to 20 of 2716
3.
rs1490871252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 22:22410321
(GRCh38)
22:22764653
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22410320:C:A
- Gene:
- LOC101929255 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490845442 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 22:22410390
(GRCh38)
22:22764722
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22410389:G:T
- Gene:
- LOC101929255 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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.
rs1490717455 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 22:22403668
(GRCh38)
22:22758000
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22403667:A:T
- Gene:
- LOC101929255 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490605687 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 22:22403976
(GRCh38)
22:22758308
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22403975:G:C
- Gene:
- LOC101929255 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000034/9
(TOPMED)
C=0.000071/10
(GnomAD)
- HGVS:
7.
rs1489373778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:22405128
(GRCh38)
22:22759460
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22405127:C:T
- Gene:
- LOC101929255 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000042/11
(TOPMED)
- HGVS:
8.
rs1489264353 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 22:22406270
(GRCh38)
22:22760602
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22406269:A:C
- Gene:
- LOC101929255 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489165026 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 22:22402885
(GRCh38)
22:22757218
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22402885:AAAA:AAAAA
- Gene:
- LOC101929255 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
11.
rs1488754425 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 22:22408687
(GRCh38)
22:22763019
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22408686:T:A
- Gene:
- LOC101929255 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,splice_acceptor_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1488481423 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 22:22408020
(GRCh38)
22:22762352
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22408019:A:G,NC_000022.11:22408019:A:T
- Gene:
- LOC101929255 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1488173228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:22402380
(GRCh38)
22:22756715
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22402379:C:T
- Gene:
- LOC101929255 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.00003/8
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
15.
rs1488055123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 22:22403887
(GRCh38)
22:22758219
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22403886:T:G
- Gene:
- LOC101929255 (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:
16.
rs1487632146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 22:22410020
(GRCh38)
22:22764352
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22410019:G:A,NC_000022.11:22410019:G:T
- Gene:
- LOC101929255 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00016/1
(1000Genomes)
- HGVS:
17.
rs1487457272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:22410322
(GRCh38)
22:22764654
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22410321:C:T
- Gene:
- LOC101929255 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1487428219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 22:22405217
(GRCh38)
22:22759549
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22405216:C:A
- Gene:
- LOC101929255 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
19.
rs1487185561 has merged into rs11342554 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 22:22402449
(GRCh38)
22:22756784
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC101929255 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000022.11:g.22402449_22402463del, NC_000022.11:g.22402450_22402463del, NC_000022.11:g.22402451_22402463del, NC_000022.11:g.22402452_22402463del, NC_000022.11:g.22402453_22402463del, NC_000022.11:g.22402454_22402463del, NC_000022.11:g.22402455_22402463del, NC_000022.11:g.22402456_22402463del, NC_000022.11:g.22402457_22402463del, NC_000022.11:g.22402458_22402463del, NC_000022.11:g.22402459_22402463del, NC_000022.11:g.22402460_22402463del, NC_000022.11:g.22402461_22402463del, NC_000022.11:g.22402462_22402463del, NC_000022.11:g.22402463del, NC_000022.11:g.22402463dup, NC_000022.11:g.22402462_22402463dup, NC_000022.11:g.22402461_22402463dup, NC_000022.11:g.22402460_22402463dup, NC_000022.11:g.22402459_22402463dup, NC_000022.11:g.22402455_22402463dup, NC_000022.11:g.22402463_22402464insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.22756793_22756795dup, NC_000022.10:g.22756784_22756795del, NC_000022.10:g.22756785_22756795del, NC_000022.10:g.22756786_22756795del, NC_000022.10:g.22756787_22756795del, NC_000022.10:g.22756788_22756795del, NC_000022.10:g.22756789_22756795del, NC_000022.10:g.22756790_22756795del, NC_000022.10:g.22756791_22756795del, NC_000022.10:g.22756792_22756795del, NC_000022.10:g.22756793_22756795del, NC_000022.10:g.22756794_22756795del, NC_000022.10:g.22756795del, NC_000022.10:g.22756795dup, NC_000022.10:g.22756794_22756795dup, NC_000022.10:g.22756792_22756795dup, NC_000022.10:g.22756791_22756795dup, NC_000022.10:g.22756790_22756795dup, NC_000022.10:g.22756789_22756795dup, NC_000022.10:g.22756788_22756795dup, NC_000022.10:g.22756784_22756795dup, NC_000022.10:g.22756795_22756796insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000002.1:g.380782_380784dup, NG_000002.1:g.380773_380784del, NG_000002.1:g.380774_380784del, NG_000002.1:g.380775_380784del, NG_000002.1:g.380776_380784del, NG_000002.1:g.380777_380784del, NG_000002.1:g.380778_380784del, NG_000002.1:g.380779_380784del, NG_000002.1:g.380780_380784del, NG_000002.1:g.380781_380784del, NG_000002.1:g.380782_380784del, NG_000002.1:g.380783_380784del, NG_000002.1:g.380784del, NG_000002.1:g.380784dup, NG_000002.1:g.380783_380784dup, NG_000002.1:g.380781_380784dup, NG_000002.1:g.380780_380784dup, NG_000002.1:g.380779_380784dup, NG_000002.1:g.380778_380784dup, NG_000002.1:g.380777_380784dup, NG_000002.1:g.380773_380784dup, NG_000002.1:g.380784_380785insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187629.1:g.38110_38111dup, NT_187629.1:g.38099_38111del, NT_187629.1:g.38100_38111del, NT_187629.1:g.38101_38111del, NT_187629.1:g.38102_38111del, NT_187629.1:g.38103_38111del, NT_187629.1:g.38104_38111del, NT_187629.1:g.38105_38111del, NT_187629.1:g.38106_38111del, NT_187629.1:g.38107_38111del, NT_187629.1:g.38108_38111del, NT_187629.1:g.38109_38111del, NT_187629.1:g.38110_38111del, NT_187629.1:g.38111del, NT_187629.1:g.38111dup, NT_187629.1:g.38109_38111dup, NT_187629.1:g.38108_38111dup, NT_187629.1:g.38107_38111dup, NT_187629.1:g.38106_38111dup, NT_187629.1:g.38105_38111dup, NT_187629.1:g.38101_38111dup, NT_187629.1:g.38111_38112insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
20.
rs1487038777 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:22410738
(GRCh38)
22:22765070
(GRCh37)
- Canonical SPDI:
- NC_000022.11:22410737:C:T
- Gene:
- LOC101929255 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS: