Links from Gene
Items: 1 to 20 of 1340
1.
rs1491573162 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 10:102453539
(GRCh38)
10:104213296
(GRCh37)
- Canonical SPDI:
- NC_000010.11:102453537:ACA:A
- Gene:
- C10orf95 (Varview), C10orf95-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00691/82
(
ALFA)
-=0.0007/27
(GnomAD)
-=0.00156/26
(TOMMO)
- HGVS:
3.
rs1491274231 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 10:102453538
(GRCh38)
10:104213296
(GRCh37)
- Canonical SPDI:
- NC_000010.11:102453538:C:CC
- Gene:
- C10orf95 (Varview), C10orf95-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.00002/1
(GnomAD)
- HGVS:
4.
rs1491216653 has merged into rs10706803 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:102452372
(GRCh38)
10:104212129
(GRCh37)
- Canonical SPDI:
- NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- C10orf95 (Varview), C10orf95-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.35/14
(GENOME_DK)
- HGVS:
NC_000010.11:g.102452372_102452383del, NC_000010.11:g.102452373_102452383del, NC_000010.11:g.102452374_102452383del, NC_000010.11:g.102452375_102452383del, NC_000010.11:g.102452376_102452383del, NC_000010.11:g.102452378_102452383del, NC_000010.11:g.102452380_102452383del, NC_000010.11:g.102452381_102452383del, NC_000010.11:g.102452382_102452383del, NC_000010.11:g.102452383del, NC_000010.11:g.102452383dup, NC_000010.11:g.102452382_102452383dup, NC_000010.11:g.102452381_102452383dup, NC_000010.11:g.102452380_102452383dup, NC_000010.11:g.102452379_102452383dup, NC_000010.11:g.102452378_102452383dup, NC_000010.10:g.104212129_104212140del, NC_000010.10:g.104212130_104212140del, NC_000010.10:g.104212131_104212140del, NC_000010.10:g.104212132_104212140del, NC_000010.10:g.104212133_104212140del, NC_000010.10:g.104212135_104212140del, NC_000010.10:g.104212137_104212140del, NC_000010.10:g.104212138_104212140del, NC_000010.10:g.104212139_104212140del, NC_000010.10:g.104212140del, NC_000010.10:g.104212140dup, NC_000010.10:g.104212139_104212140dup, NC_000010.10:g.104212138_104212140dup, NC_000010.10:g.104212137_104212140dup, NC_000010.10:g.104212136_104212140dup, NC_000010.10:g.104212135_104212140dup
5.
rs1491055072 has merged into rs10706803 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:102452372
(GRCh38)
10:104212129
(GRCh37)
- Canonical SPDI:
- NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- C10orf95 (Varview), C10orf95-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.35/14
(GENOME_DK)
- HGVS:
NC_000010.11:g.102452372_102452383del, NC_000010.11:g.102452373_102452383del, NC_000010.11:g.102452374_102452383del, NC_000010.11:g.102452375_102452383del, NC_000010.11:g.102452376_102452383del, NC_000010.11:g.102452378_102452383del, NC_000010.11:g.102452380_102452383del, NC_000010.11:g.102452381_102452383del, NC_000010.11:g.102452382_102452383del, NC_000010.11:g.102452383del, NC_000010.11:g.102452383dup, NC_000010.11:g.102452382_102452383dup, NC_000010.11:g.102452381_102452383dup, NC_000010.11:g.102452380_102452383dup, NC_000010.11:g.102452379_102452383dup, NC_000010.11:g.102452378_102452383dup, NC_000010.10:g.104212129_104212140del, NC_000010.10:g.104212130_104212140del, NC_000010.10:g.104212131_104212140del, NC_000010.10:g.104212132_104212140del, NC_000010.10:g.104212133_104212140del, NC_000010.10:g.104212135_104212140del, NC_000010.10:g.104212137_104212140del, NC_000010.10:g.104212138_104212140del, NC_000010.10:g.104212139_104212140del, NC_000010.10:g.104212140del, NC_000010.10:g.104212140dup, NC_000010.10:g.104212139_104212140dup, NC_000010.10:g.104212138_104212140dup, NC_000010.10:g.104212137_104212140dup, NC_000010.10:g.104212136_104212140dup, NC_000010.10:g.104212135_104212140dup
6.
rs1490875039 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:102449495
(GRCh38)
10:104209252
(GRCh37)
- Canonical SPDI:
- NC_000010.11:102449494:G:A
- Gene:
- C10orf95 (Varview), C10orf95-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490032344 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 10:102451185
(GRCh38)
10:104210943
(GRCh37)
- Canonical SPDI:
- NC_000010.11:102451185:TT:TTT
- Gene:
- C10orf95 (Varview), C10orf95-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000008/1
(GnomAD_exomes)
- HGVS:
9.
rs1489582187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 10:102450086
(GRCh38)
10:104209843
(GRCh37)
- Canonical SPDI:
- NC_000010.11:102450085:A:C
- Gene:
- C10orf95 (Varview), C10orf95-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1488215809 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:102452494
(GRCh38)
10:104212251
(GRCh37)
- Canonical SPDI:
- NC_000010.11:102452493:T:C
- Gene:
- C10orf95 (Varview), C10orf95-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
11.
rs1487091399 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:102450400
(GRCh38)
10:104210157
(GRCh37)
- Canonical SPDI:
- NC_000010.11:102450399:G:A
- Gene:
- C10orf95 (Varview), C10orf95-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_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:
12.
rs1486165365 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 10:102452388
(GRCh38)
10:104212145
(GRCh37)
- Canonical SPDI:
- NC_000010.11:102452387:C:A,NC_000010.11:102452387:C:T
- Gene:
- C10orf95 (Varview), C10orf95-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.00167/47
(TOMMO)
- HGVS:
13.
rs1486137110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 10:102452036
(GRCh38)
10:104211793
(GRCh37)
- Canonical SPDI:
- NC_000010.11:102452035:C:G
- Gene:
- C10orf95 (Varview), C10orf95-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/1
(GnomAD)
- HGVS:
14.
rs1485997291 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:102450193
(GRCh38)
10:104209950
(GRCh37)
- Canonical SPDI:
- NC_000010.11:102450192:G:A
- Gene:
- C10orf95 (Varview), C10orf95-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000035/1
(TOMMO)
A=0.00005/7
(GnomAD)
- HGVS:
15.
rs1485493970 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 10:102450008
(GRCh38)
10:104209765
(GRCh37)
- Canonical SPDI:
- NC_000010.11:102450007:GG:G
- Gene:
- C10orf95 (Varview), C10orf95-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
17.
rs1484211900 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:102453294
(GRCh38)
10:104213051
(GRCh37)
- Canonical SPDI:
- NC_000010.11:102453293:C:T
- Gene:
- C10orf95 (Varview), C10orf95-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1483859803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 10:102450896
(GRCh38)
10:104210653
(GRCh37)
- Canonical SPDI:
- NC_000010.11:102450895:C:G
- Gene:
- C10orf95 (Varview), C10orf95-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
20.
rs1483542804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 10:102450646
(GRCh38)
10:104210403
(GRCh37)
- Canonical SPDI:
- NC_000010.11:102450645:C:A,NC_000010.11:102450645:C:T
- Gene:
- C10orf95 (Varview), C10orf95-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000010.11:g.102450646C>A, NC_000010.11:g.102450646C>T, NC_000010.10:g.104210403C>A, NC_000010.10:g.104210403C>T, NM_024886.2:c.585G>T, NM_024886.2:c.585G>A, NM_024886.1:c.585G>T, NM_024886.1:c.585G>A, NM_001363580.1:c.448G>T, NM_001363580.1:c.448G>A, NP_001350509.1:p.Gly150Cys, NP_001350509.1:p.Gly150Ser