Links from Gene
Items: 1 to 20 of 1624
1.
rs1491490068 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 13:30978283
(GRCh38)
13:31552420
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30978282:GC:
- Gene:
- LOC105370145 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.0008/13
(
ALFA)
-=0.00092/15
(TOMMO)
-=0.00328/6
(Korea1K)
- HGVS:
3.
rs1491341390 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAA
[Show Flanks]
- Chromosome:
- 13:30978283
(GRCh38)
13:31552421
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30978283:CAA:CAACAA
- Gene:
- LOC105370145 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CAACAA=0./0
(
ALFA)
CAA=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491188364 has merged into rs71192672 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:30978266
(GRCh38)
13:31552403
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC105370145 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAAAAA=0./0
(GENOME_DK)
AAAAAAAAAAAAAAAA=0.4956/2482
(1000Genomes)
- HGVS:
NC_000013.11:g.30978266_30978282del, NC_000013.11:g.30978267_30978282del, NC_000013.11:g.30978268_30978282del, NC_000013.11:g.30978269_30978282del, NC_000013.11:g.30978270_30978282del, NC_000013.11:g.30978271_30978282del, NC_000013.11:g.30978272_30978282del, NC_000013.11:g.30978273_30978282del, NC_000013.11:g.30978274_30978282del, NC_000013.11:g.30978275_30978282del, NC_000013.11:g.30978276_30978282del, NC_000013.11:g.30978277_30978282del, NC_000013.11:g.30978278_30978282del, NC_000013.11:g.30978279_30978282del, NC_000013.11:g.30978280_30978282del, NC_000013.11:g.30978281_30978282del, NC_000013.11:g.30978282del, NC_000013.11:g.30978282dup, NC_000013.11:g.30978281_30978282dup, NC_000013.11:g.30978280_30978282dup, NC_000013.11:g.30978279_30978282dup, NC_000013.11:g.30978278_30978282dup, NC_000013.11:g.30978277_30978282dup, NC_000013.11:g.30978276_30978282dup, NC_000013.11:g.30978275_30978282dup, NC_000013.11:g.30978274_30978282dup, NC_000013.11:g.30978273_30978282dup, NC_000013.11:g.30978272_30978282dup, NC_000013.11:g.30978271_30978282dup, NC_000013.11:g.30978269_30978282dup, NC_000013.11:g.30978268_30978282dup, NC_000013.11:g.30978267_30978282dup, NC_000013.11:g.30978266_30978282dup, NC_000013.11:g.30978265_30978282dup, NC_000013.11:g.30978264_30978282dup, NC_000013.11:g.30978263_30978282dup, NC_000013.11:g.30978262_30978282dup, NC_000013.11:g.30978261_30978282dup, NC_000013.11:g.30978260_30978282dup, NC_000013.11:g.30978259_30978282dup, NC_000013.11:g.30978258_30978282dup, NC_000013.11:g.30978257_30978282dup, NC_000013.11:g.30978256_30978282dup, NC_000013.11:g.30978282_30978283insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.30978282_30978283insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.30978282_30978283insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.30978282_30978283insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.30978282_30978283insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.31552403_31552419del, NC_000013.10:g.31552404_31552419del, NC_000013.10:g.31552405_31552419del, NC_000013.10:g.31552406_31552419del, NC_000013.10:g.31552407_31552419del, NC_000013.10:g.31552408_31552419del, NC_000013.10:g.31552409_31552419del, NC_000013.10:g.31552410_31552419del, NC_000013.10:g.31552411_31552419del, NC_000013.10:g.31552412_31552419del, NC_000013.10:g.31552413_31552419del, NC_000013.10:g.31552414_31552419del, NC_000013.10:g.31552415_31552419del, NC_000013.10:g.31552416_31552419del, NC_000013.10:g.31552417_31552419del, NC_000013.10:g.31552418_31552419del, NC_000013.10:g.31552419del, NC_000013.10:g.31552419dup, NC_000013.10:g.31552418_31552419dup, NC_000013.10:g.31552417_31552419dup, NC_000013.10:g.31552416_31552419dup, NC_000013.10:g.31552415_31552419dup, NC_000013.10:g.31552414_31552419dup, NC_000013.10:g.31552413_31552419dup, NC_000013.10:g.31552412_31552419dup, NC_000013.10:g.31552411_31552419dup, NC_000013.10:g.31552410_31552419dup, NC_000013.10:g.31552409_31552419dup, NC_000013.10:g.31552408_31552419dup, NC_000013.10:g.31552406_31552419dup, NC_000013.10:g.31552405_31552419dup, NC_000013.10:g.31552404_31552419dup, NC_000013.10:g.31552403_31552419dup, NC_000013.10:g.31552402_31552419dup, NC_000013.10:g.31552401_31552419dup, NC_000013.10:g.31552400_31552419dup, NC_000013.10:g.31552399_31552419dup, NC_000013.10:g.31552398_31552419dup, NC_000013.10:g.31552397_31552419dup, NC_000013.10:g.31552396_31552419dup, NC_000013.10:g.31552395_31552419dup, NC_000013.10:g.31552394_31552419dup, NC_000013.10:g.31552393_31552419dup, NC_000013.10:g.31552419_31552420insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.31552419_31552420insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.31552419_31552420insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.31552419_31552420insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.31552419_31552420insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1490630654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 13:30978672
(GRCh38)
13:31552809
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30978671:C:A,NC_000013.11:30978671:C:T
- Gene:
- LOC105370145 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
T=0.000071/2
(TOMMO)
- HGVS:
6.
rs1490395241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:30979542
(GRCh38)
13:31553679
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30979541:G:C
- Gene:
- LOC105370145 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
7.
rs1489827260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 13:30977492
(GRCh38)
13:31551629
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30977491:A:T
- Gene:
- LOC105370145 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
8.
rs1489499837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:30978033
(GRCh38)
13:31552170
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30978032:T:G
- Gene:
- LOC105370145 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
9.
rs1488946516 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 13:30972647
(GRCh38)
13:31546784
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30972646:G:
- Gene:
- TEX26 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1487909920 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:30975909
(GRCh38)
13:31550046
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30975908:G:A
- Gene:
- TEX26 (Varview), LOC105370145 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
11.
rs1487865060 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 13:30977585
(GRCh38)
13:31551722
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30977584:G:A,NC_000013.11:30977584:G:T
- Gene:
- LOC105370145 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487567104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 13:30976213
(GRCh38)
13:31550350
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30976212:A:C
- Gene:
- LOC105370145 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
13.
rs1487048123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:30978755
(GRCh38)
13:31552892
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30978754:G:A
- Gene:
- LOC105370145 (Varview)
- Functional Consequence:
- 2KB_upstream_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:
14.
rs1486929288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 13:30976199
(GRCh38)
13:31550336
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30976198:A:T
- Gene:
- LOC105370145 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
15.
rs1486458145 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 13:30978087
(GRCh38)
13:31552225
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30978087:AAAAA:AAAAAA
- Gene:
- LOC105370145 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
16.
rs1485574091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:30972921
(GRCh38)
13:31547058
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30972920:G:C
- Gene:
- TEX26 (Varview), LOC105370145 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1485361046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 13:30978681
(GRCh38)
13:31552818
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30978680:C:G,NC_000013.11:30978680:C:T
- Gene:
- LOC105370145 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1485089325 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:30978167
(GRCh38)
13:31552304
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30978166:T:G
- Gene:
- LOC105370145 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1484998480 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 13:30974165
(GRCh38)
13:31548302
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30974164:T:A,NC_000013.11:30974164:T:G
- Gene:
- TEX26 (Varview), LOC105370145 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000018/2
(GnomAD)
A=0.001946/33
(TOMMO)
- HGVS:
20.
rs1484482745 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:30975681
(GRCh38)
13:31549818
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30975680:T:C
- Gene:
- TEX26 (Varview), LOC105370145 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
- HGVS: