Links from Gene
Items: 1 to 20 of 1302
1.
rs1491086363 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAGGTTTGAATCACAGCATTGCCACACATTAAC
[Show Flanks]
- Chromosome:
- 12:99650318
(GRCh38)
12:100044097
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99650318:CCAGGTTTGAATCACAGCATTGCCACACATTAAC:CCAGGTTTGAATCACAGCATTGCCACACATTAACCAGGTTTGAATCACAGCATTGCCACACATTAAC
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
CCAGGTTTGAATCACAGCATTGCCACACATTAA=0.000036/5
(GnomAD)
- HGVS:
2.
rs1491052046 has merged into rs34337860 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:99646036
(GRCh38)
12:100039814
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:99646026:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000012.12:g.99646036_99646042del, NC_000012.12:g.99646038_99646042del, NC_000012.12:g.99646039_99646042del, NC_000012.12:g.99646040_99646042del, NC_000012.12:g.99646041_99646042del, NC_000012.12:g.99646042del, NC_000012.12:g.99646042dup, NC_000012.12:g.99646041_99646042dup, NC_000012.12:g.99646040_99646042dup, NC_000012.12:g.99646039_99646042dup, NC_000012.12:g.99646038_99646042dup, NC_000012.12:g.99646036_99646042dup, NC_000012.12:g.99646034_99646042dup, NC_000012.12:g.99646032_99646042dup, NC_000012.12:g.99646031_99646042dup, NC_000012.12:g.99646030_99646042dup, NC_000012.12:g.99646029_99646042dup, NC_000012.12:g.99646028_99646042dup, NC_000012.12:g.99646042_99646043insAAAAAAAAAAAAAAAAA, NC_000012.11:g.100039814_100039820del, NC_000012.11:g.100039816_100039820del, NC_000012.11:g.100039817_100039820del, NC_000012.11:g.100039818_100039820del, NC_000012.11:g.100039819_100039820del, NC_000012.11:g.100039820del, NC_000012.11:g.100039820dup, NC_000012.11:g.100039819_100039820dup, NC_000012.11:g.100039818_100039820dup, NC_000012.11:g.100039817_100039820dup, NC_000012.11:g.100039816_100039820dup, NC_000012.11:g.100039814_100039820dup, NC_000012.11:g.100039812_100039820dup, NC_000012.11:g.100039810_100039820dup, NC_000012.11:g.100039809_100039820dup, NC_000012.11:g.100039808_100039820dup, NC_000012.11:g.100039807_100039820dup, NC_000012.11:g.100039806_100039820dup, NC_000012.11:g.100039820_100039821insAAAAAAAAAAAAAAAAA, NG_029860.2:g.343622_343628del, NG_029860.2:g.343624_343628del, NG_029860.2:g.343625_343628del, NG_029860.2:g.343626_343628del, NG_029860.2:g.343627_343628del, NG_029860.2:g.343628del, NG_029860.2:g.343628dup, NG_029860.2:g.343627_343628dup, NG_029860.2:g.343626_343628dup, NG_029860.2:g.343625_343628dup, NG_029860.2:g.343624_343628dup, NG_029860.2:g.343622_343628dup, NG_029860.2:g.343620_343628dup, NG_029860.2:g.343618_343628dup, NG_029860.2:g.343617_343628dup, NG_029860.2:g.343616_343628dup, NG_029860.2:g.343615_343628dup, NG_029860.2:g.343614_343628dup, NG_029860.2:g.343628_343629insTTTTTTTTTTTTTTTTT
3.
rs1490637635 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 12:99650184
(GRCh38)
12:100043962
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99650183:C:A,NC_000012.12:99650183:C:T
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
4.
rs1490302769 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:99650256
(GRCh38)
12:100044034
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99650255:A:G
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000012/1
(GnomAD)
- HGVS:
5.
rs1488841015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:99649025
(GRCh38)
12:100042803
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99649024:T:G
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
6.
rs1487563123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 12:99647100
(GRCh38)
12:100040878
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99647099:T:A,NC_000012.12:99647099:T:C,NC_000012.12:99647099:T:G
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
G=0.001132/19
(TOMMO)
- HGVS:
7.
rs1487002376 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:99649260
(GRCh38)
12:100043038
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99649259:T:C
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
8.
rs1486731672 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:99646777
(GRCh38)
12:100040555
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99646776:T:C
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
9.
rs1486492821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:99646847
(GRCh38)
12:100040625
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99646846:G:A
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1486055333 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:99648782
(GRCh38)
12:100042560
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99648781:G:A,NC_000012.12:99648781:G:T
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000012.12:g.99648782G>A, NC_000012.12:g.99648782G>T, NC_000012.11:g.100042560G>A, NC_000012.11:g.100042560G>T, NG_029860.2:g.340873C>T, NG_029860.2:g.340873C>A, NM_153364.4:c.608G>A, NM_153364.4:c.608G>T, NM_153364.3:c.608G>A, NM_153364.3:c.608G>T, NP_699195.1:p.Ser203Asn, NP_699195.1:p.Ser203Ile
11.
rs1485839173 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:99646369
(GRCh38)
12:100040147
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99646368:C:T
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
12.
rs1485753611 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:99647190
(GRCh38)
12:100040968
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99647189:T:A
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1485439931 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 12:99648010
(GRCh38)
12:100041788
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99648009:A:C,NC_000012.12:99648009:A:G,NC_000012.12:99648009:A:T
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.00164/3
(Korea1K)
- HGVS:
NC_000012.12:g.99648010A>C, NC_000012.12:g.99648010A>G, NC_000012.12:g.99648010A>T, NC_000012.11:g.100041788A>C, NC_000012.11:g.100041788A>G, NC_000012.11:g.100041788A>T, NG_029860.2:g.341645T>G, NG_029860.2:g.341645T>C, NG_029860.2:g.341645T>A, NM_153364.4:c.-165A>C, NM_153364.4:c.-165A>G, NM_153364.4:c.-165A>T, NM_153364.3:c.-165A>C, NM_153364.3:c.-165A>G, NM_153364.3:c.-165A>T
14.
rs1483973394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:99648655
(GRCh38)
12:100042433
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99648654:G:A,NC_000012.12:99648654:G:T
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0./0
(Korea1K)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000012.12:g.99648655G>A, NC_000012.12:g.99648655G>T, NC_000012.11:g.100042433G>A, NC_000012.11:g.100042433G>T, NG_029860.2:g.341000C>T, NG_029860.2:g.341000C>A, NM_153364.4:c.481G>A, NM_153364.4:c.481G>T, NM_153364.3:c.481G>A, NM_153364.3:c.481G>T, NP_699195.1:p.Asp161Asn, NP_699195.1:p.Asp161Tyr
15.
rs1483942322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:99649780
(GRCh38)
12:100043558
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99649779:T:C
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
16.
rs1483783065 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:99647902
(GRCh38)
12:100041680
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99647901:C:A
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1482960841 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:99646833
(GRCh38)
12:100040611
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99646832:C:T
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0004/2
(
ALFA)
T=0.0004/2
(Estonian)
- HGVS:
18.
rs1482147300 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:99647549
(GRCh38)
12:100041327
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99647548:G:A
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1481392040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:99647103
(GRCh38)
12:100040881
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99647102:A:G
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
20.
rs1481324039 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:99648454
(GRCh38)
12:100042232
(GRCh37)
- Canonical SPDI:
- NC_000012.12:99648453:G:A
- Gene:
- ANKS1B (Varview), GARIN6 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: