Links from Gene
Items: 1 to 20 of 962
1.
rs1491040422 has merged into rs386373060 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:9096157
(GRCh38)
11:9117704
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:9096146:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KRT8P41 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.1939/971
(1000Genomes)
- HGVS:
NC_000011.10:g.9096157_9096164del, NC_000011.10:g.9096158_9096164del, NC_000011.10:g.9096160_9096164del, NC_000011.10:g.9096161_9096164del, NC_000011.10:g.9096162_9096164del, NC_000011.10:g.9096163_9096164del, NC_000011.10:g.9096164del, NC_000011.10:g.9096164dup, NC_000011.10:g.9096163_9096164dup, NC_000011.10:g.9096162_9096164dup, NC_000011.10:g.9096161_9096164dup, NC_000011.10:g.9096164_9096165insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.9117704_9117711del, NC_000011.9:g.9117705_9117711del, NC_000011.9:g.9117707_9117711del, NC_000011.9:g.9117708_9117711del, NC_000011.9:g.9117709_9117711del, NC_000011.9:g.9117710_9117711del, NC_000011.9:g.9117711del, NC_000011.9:g.9117711dup, NC_000011.9:g.9117710_9117711dup, NC_000011.9:g.9117709_9117711dup, NC_000011.9:g.9117708_9117711dup, NC_000011.9:g.9117711_9117712insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_027713.1:n.1795_1802del, NR_027713.1:n.1796_1802del, NR_027713.1:n.1798_1802del, NR_027713.1:n.1799_1802del, NR_027713.1:n.1800_1802del, NR_027713.1:n.1801_1802del, NR_027713.1:n.1802del, NR_027713.1:n.1802dup, NR_027713.1:n.1801_1802dup, NR_027713.1:n.1800_1802dup, NR_027713.1:n.1799_1802dup, NR_027713.1:n.1802_1803insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_198473.1:c.*471_*473dup, NM_198473.1:c.*469_*473del, NM_198473.1:c.*470_*473del, NM_198473.1:c.*472_*473del, NM_198473.1:c.*473del, NM_198473.1:c.*473dup, NM_198473.1:c.*472_*473dup, NM_198473.1:c.*470_*473dup, NM_198473.1:c.*469_*473dup, NM_198473.1:c.*468_*473dup, NM_198473.1:c.*467_*473dup, NM_198473.1:c.*473_*474insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1490242197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:9096442
(GRCh38)
11:9117989
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9096441:T:C
- Gene:
- KRT8P41 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
3.
rs1489934036 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:9092445
(GRCh38)
11:9113992
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9092444:G:A
- Gene:
- SCUBE2 (Varview), KRT8P41 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.0002/1
(
ALFA)
A=0.0002/1
(Estonian)
- HGVS:
4.
rs1489511353 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:9096638
(GRCh38)
11:9118185
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9096637:C:T
- Gene:
- KRT8P41 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000035/1
(TOMMO)
T=0.000038/10
(TOPMED)
- HGVS:
5.
rs1489459091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:9094422
(GRCh38)
11:9115969
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9094421:C:G,NC_000011.10:9094421:C:T
- Gene:
- KRT8P41 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
6.
rs1489405637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:9095493
(GRCh38)
11:9117040
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9095492:T:C
- Gene:
- KRT8P41 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000019/5
(TOPMED)
C=0.000106/2
(TOMMO)
C=0.000342/1
(KOREAN)
C=0.000546/1
(Korea1K)
- HGVS:
9.
rs1488639655 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 11:9095893
(GRCh38)
11:9117440
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9095892:AAA:AA
- Gene:
- KRT8P41 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
10.
rs1487441557 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 11:9094570
(GRCh38)
11:9116117
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9094569:C:
- Gene:
- KRT8P41 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
11.
rs1487167947 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:9095466
(GRCh38)
11:9117013
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9095465:G:A
- Gene:
- KRT8P41 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487137718 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 11:9094099
(GRCh38)
11:9115646
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9094096:TCTC:TC
- Gene:
- KRT8P41 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTC=0.000071/1
(
ALFA)
-=0.000068/18
(TOPMED)
- HGVS:
13.
rs1487087014 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:9095181
(GRCh38)
11:9116728
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9095180:G:A
- Gene:
- KRT8P41 (Varview)
- Functional Consequence:
- non_coding_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:
14.
rs1486682398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:9095083
(GRCh38)
11:9116630
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9095082:G:A
- Gene:
- KRT8P41 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
15.
rs1483576862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:9092366
(GRCh38)
11:9113913
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9092365:C:T
- Gene:
- SCUBE2 (Varview), KRT8P41 (Varview), MIR5691 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
16.
rs1482371334 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 11:9093859
(GRCh38)
11:9115406
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9093858:T:C,NC_000011.10:9093858:T:G
- Gene:
- KRT8P41 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(KOREAN)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1480520318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:9092478
(GRCh38)
11:9114025
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9092477:C:T
- Gene:
- SCUBE2 (Varview), KRT8P41 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1480045685 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:9095497
(GRCh38)
11:9117044
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9095496:G:A
- Gene:
- KRT8P41 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
19.
rs1479052099 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:9096433
(GRCh38)
11:9117980
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9096432:C:T
- Gene:
- KRT8P41 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1478637033 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:9096089
(GRCh38)
11:9117636
(GRCh37)
- Canonical SPDI:
- NC_000011.10:9096088:A:G
- Gene:
- KRT8P41 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS: