Links from Gene
Items: 1 to 20 of 1433
1.
rs1491520613 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 15:74126372
(GRCh38)
15:74418714
(GRCh37)
- Canonical SPDI:
- NC_000015.10:74126372:G:GG
- Gene:
- ISLR2 (Varview), LOC283731 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000016/2
(GnomAD)
- HGVS:
3.
rs1490949596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:74128308
(GRCh38)
15:74420649
(GRCh37)
- Canonical SPDI:
- NC_000015.10:74128307:G:T
- Gene:
- ISLR2 (Varview), LOC283731 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,intron_variant,splice_donor_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
4.
rs1490871416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:74129351
(GRCh38)
15:74421692
(GRCh37)
- Canonical SPDI:
- NC_000015.10:74129350:C:T
- Gene:
- ISLR2 (Varview), LOC283731 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_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.
rs1490856953 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:74129416
(GRCh38)
15:74421757
(GRCh37)
- Canonical SPDI:
- NC_000015.10:74129415:G:A
- Gene:
- ISLR2 (Varview), LOC283731 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
6.
rs1490364798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 15:74129059
(GRCh38)
15:74421400
(GRCh37)
- Canonical SPDI:
- NC_000015.10:74129058:C:G,NC_000015.10:74129058:C:T
- Gene:
- ISLR2 (Varview), LOC283731 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
7.
rs1489811750 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:74129241
(GRCh38)
15:74421582
(GRCh37)
- Canonical SPDI:
- NC_000015.10:74129240:A:C
- Gene:
- ISLR2 (Varview), LOC283731 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1488929681 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:74131181
(GRCh38)
15:74423522
(GRCh37)
- Canonical SPDI:
- NC_000015.10:74131180:C:A
- Gene:
- ISLR2 (Varview), LOC283731 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1488684211 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:74130816
(GRCh38)
15:74423157
(GRCh37)
- Canonical SPDI:
- NC_000015.10:74130815:T:C
- Gene:
- ISLR2 (Varview), LOC283731 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
10.
rs1488683771 has merged into rs1254116573 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGG>-,GGG,GGGGG
[Show Flanks]
- Chromosome:
- 15:74130213
(GRCh38)
15:74422554
(GRCh37)
- Canonical SPDI:
- NC_000015.10:74130209:GGGGGGG:GGG,NC_000015.10:74130209:GGGGGGG:GGGGGG,NC_000015.10:74130209:GGGGGGG:GGGGGGGG
- Gene:
- ISLR2 (Varview), LOC283731 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGG=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
G=0.000312/2
(1000Genomes)
- HGVS:
11.
rs1488651968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:74128496
(GRCh38)
15:74420837
(GRCh37)
- Canonical SPDI:
- NC_000015.10:74128495:A:C
- Gene:
- ISLR2 (Varview), LOC283731 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD_exomes)
- HGVS:
12.
rs1488575218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:74127213
(GRCh38)
15:74419554
(GRCh37)
- Canonical SPDI:
- NC_000015.10:74127212:A:G
- Gene:
- ISLR2 (Varview), LOC283731 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
14.
rs1486906303 has merged into rs869162947 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:74126358
(GRCh38)
15:74418699
(GRCh37)
- Canonical SPDI:
- NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:74126347:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ISLR2 (Varview), LOC283731 (Varview)
- Functional Consequence:
- downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.74126358_74126372del, NC_000015.10:g.74126359_74126372del, NC_000015.10:g.74126361_74126372del, NC_000015.10:g.74126362_74126372del, NC_000015.10:g.74126363_74126372del, NC_000015.10:g.74126364_74126372del, NC_000015.10:g.74126365_74126372del, NC_000015.10:g.74126366_74126372del, NC_000015.10:g.74126367_74126372del, NC_000015.10:g.74126368_74126372del, NC_000015.10:g.74126369_74126372del, NC_000015.10:g.74126370_74126372del, NC_000015.10:g.74126371_74126372del, NC_000015.10:g.74126372del, NC_000015.10:g.74126372dup, NC_000015.10:g.74126371_74126372dup, NC_000015.10:g.74126370_74126372dup, NC_000015.10:g.74126369_74126372dup, NC_000015.10:g.74126368_74126372dup, NC_000015.10:g.74126367_74126372dup, NC_000015.10:g.74126366_74126372dup, NC_000015.10:g.74126365_74126372dup, NC_000015.10:g.74126364_74126372dup, NC_000015.10:g.74126363_74126372dup, NC_000015.10:g.74126351_74126372dup, NC_000015.10:g.74126350_74126372dup, NC_000015.10:g.74126372_74126373insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.74126372_74126373insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.74126372_74126373insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.74126372_74126373insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.74126372_74126373insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.74418699_74418713del, NC_000015.9:g.74418700_74418713del, NC_000015.9:g.74418702_74418713del, NC_000015.9:g.74418703_74418713del, NC_000015.9:g.74418704_74418713del, NC_000015.9:g.74418705_74418713del, NC_000015.9:g.74418706_74418713del, NC_000015.9:g.74418707_74418713del, NC_000015.9:g.74418708_74418713del, NC_000015.9:g.74418709_74418713del, NC_000015.9:g.74418710_74418713del, NC_000015.9:g.74418711_74418713del, NC_000015.9:g.74418712_74418713del, NC_000015.9:g.74418713del, NC_000015.9:g.74418713dup, NC_000015.9:g.74418712_74418713dup, NC_000015.9:g.74418711_74418713dup, NC_000015.9:g.74418710_74418713dup, NC_000015.9:g.74418709_74418713dup, NC_000015.9:g.74418708_74418713dup, NC_000015.9:g.74418707_74418713dup, NC_000015.9:g.74418706_74418713dup, NC_000015.9:g.74418705_74418713dup, NC_000015.9:g.74418704_74418713dup, NC_000015.9:g.74418692_74418713dup, NC_000015.9:g.74418691_74418713dup, NC_000015.9:g.74418713_74418714insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.74418713_74418714insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.74418713_74418714insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.74418713_74418714insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.74418713_74418714insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
15.
rs1485572999 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:74126423
(GRCh38)
15:74418764
(GRCh37)
- Canonical SPDI:
- NC_000015.10:74126422:C:T
- Gene:
- ISLR2 (Varview), LOC283731 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000169/2
(
ALFA)
T=0.000038/5
(GnomAD)
- HGVS:
16.
rs1485345595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:74128968
(GRCh38)
15:74421309
(GRCh37)
- Canonical SPDI:
- NC_000015.10:74128967:G:A
- Gene:
- ISLR2 (Varview), LOC283731 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000015/2
(GnomAD)
- HGVS:
17.
rs1485314525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 15:74128134
(GRCh38)
15:74420475
(GRCh37)
- Canonical SPDI:
- NC_000015.10:74128133:C:A,NC_000015.10:74128133:C:G
- Gene:
- ISLR2 (Varview), LOC283731 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000015.10:g.74128134C>A, NC_000015.10:g.74128134C>G, NC_000015.9:g.74420475C>A, NC_000015.9:g.74420475C>G, XM_011521841.2:c.-360C>A, XM_011521841.2:c.-360C>G, XM_024450006.2:c.-292C>A, XM_024450006.2:c.-292C>G, NR_027073.1:n.805G>T, NR_027073.1:n.805G>C, NR_152622.1:n.805G>T, NR_152622.1:n.805G>C
18.
rs1483868990 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 15:74127318
(GRCh38)
15:74419659
(GRCh37)
- Canonical SPDI:
- NC_000015.10:74127317:T:A
- Gene:
- ISLR2 (Varview), LOC283731 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1483693273 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:74131102
(GRCh38)
15:74423443
(GRCh37)
- Canonical SPDI:
- NC_000015.10:74131101:G:A
- Gene:
- ISLR2 (Varview), LOC283731 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS: