Links from Gene
Items: 1 to 20 of 955
1.
rs1491237259 has merged into rs11322028 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:123200960
(GRCh38)
8:124213200
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123200957:AAAAAAAAAAAA:AA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
-=0.18667/112
(NorthernSweden)
-=0.225/9
(GENOME_DK)
- HGVS:
NC_000008.11:g.123200960_123200969del, NC_000008.11:g.123200962_123200969del, NC_000008.11:g.123200963_123200969del, NC_000008.11:g.123200964_123200969del, NC_000008.11:g.123200965_123200969del, NC_000008.11:g.123200966_123200969del, NC_000008.11:g.123200967_123200969del, NC_000008.11:g.123200968_123200969del, NC_000008.11:g.123200969del, NC_000008.11:g.123200969dup, NC_000008.11:g.123200968_123200969dup, NC_000008.11:g.123200967_123200969dup, NC_000008.11:g.123200966_123200969dup, NC_000008.10:g.124213200_124213209del, NC_000008.10:g.124213202_124213209del, NC_000008.10:g.124213203_124213209del, NC_000008.10:g.124213204_124213209del, NC_000008.10:g.124213205_124213209del, NC_000008.10:g.124213206_124213209del, NC_000008.10:g.124213207_124213209del, NC_000008.10:g.124213208_124213209del, NC_000008.10:g.124213209del, NC_000008.10:g.124213209dup, NC_000008.10:g.124213208_124213209dup, NC_000008.10:g.124213207_124213209dup, NC_000008.10:g.124213206_124213209dup, XM_011517338.3:c.*1098_*1107del, XM_011517338.3:c.*1100_*1107del, XM_011517338.3:c.*1101_*1107del, XM_011517338.3:c.*1102_*1107del, XM_011517338.3:c.*1103_*1107del, XM_011517338.3:c.*1104_*1107del, XM_011517338.3:c.*1105_*1107del, XM_011517338.3:c.*1106_*1107del, XM_011517338.3:c.*1107del, XM_011517338.3:c.*1107dup, XM_011517338.3:c.*1106_*1107dup, XM_011517338.3:c.*1105_*1107dup, XM_011517338.3:c.*1104_*1107dup
2.
rs1491160252 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA,GA,TA
[Show Flanks]
- Chromosome:
- 8:123200958
(GRCh38)
8:124213199
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123200958:A:ACA,NC_000008.11:123200958:A:AGA,NC_000008.11:123200958:A:ATA
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
AGA=0./0
(
ALFA)
AC=0./0
(GnomAD)
- HGVS:
3.
rs1487935661 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:123202889
(GRCh38)
8:124215129
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123202888:C:T
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000045/12
(TOPMED)
- HGVS:
4.
rs1487768534 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:123204731
(GRCh38)
8:124216971
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123204730:A:G
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
5.
rs1487672442 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:123204570
(GRCh38)
8:124216810
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123204569:G:A
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,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:
6.
rs1487082184 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 8:123204640
(GRCh38)
8:124216880
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123204639:T:A,NC_000008.11:123204639:T:C
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1487006395 has merged into rs11322028 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:123200960
(GRCh38)
8:124213200
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123200957:AAAAAAAAAAAA:AA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:123200957:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
-=0.18667/112
(NorthernSweden)
-=0.225/9
(GENOME_DK)
- HGVS:
NC_000008.11:g.123200960_123200969del, NC_000008.11:g.123200962_123200969del, NC_000008.11:g.123200963_123200969del, NC_000008.11:g.123200964_123200969del, NC_000008.11:g.123200965_123200969del, NC_000008.11:g.123200966_123200969del, NC_000008.11:g.123200967_123200969del, NC_000008.11:g.123200968_123200969del, NC_000008.11:g.123200969del, NC_000008.11:g.123200969dup, NC_000008.11:g.123200968_123200969dup, NC_000008.11:g.123200967_123200969dup, NC_000008.11:g.123200966_123200969dup, NC_000008.10:g.124213200_124213209del, NC_000008.10:g.124213202_124213209del, NC_000008.10:g.124213203_124213209del, NC_000008.10:g.124213204_124213209del, NC_000008.10:g.124213205_124213209del, NC_000008.10:g.124213206_124213209del, NC_000008.10:g.124213207_124213209del, NC_000008.10:g.124213208_124213209del, NC_000008.10:g.124213209del, NC_000008.10:g.124213209dup, NC_000008.10:g.124213208_124213209dup, NC_000008.10:g.124213207_124213209dup, NC_000008.10:g.124213206_124213209dup, XM_011517338.3:c.*1098_*1107del, XM_011517338.3:c.*1100_*1107del, XM_011517338.3:c.*1101_*1107del, XM_011517338.3:c.*1102_*1107del, XM_011517338.3:c.*1103_*1107del, XM_011517338.3:c.*1104_*1107del, XM_011517338.3:c.*1105_*1107del, XM_011517338.3:c.*1106_*1107del, XM_011517338.3:c.*1107del, XM_011517338.3:c.*1107dup, XM_011517338.3:c.*1106_*1107dup, XM_011517338.3:c.*1105_*1107dup, XM_011517338.3:c.*1104_*1107dup
8.
rs1486956119 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 8:123203807
(GRCh38)
8:124216047
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123203806:C:
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
9.
rs1486224066 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAAAA
[Show Flanks]
- Chromosome:
- 8:123203802
(GRCh38)
8:124216043
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123203802:AAAACAAAACAAAA:AAAACAAAACAAAACAAAA
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAACAAAACAAAACAAAA=0./0
(
ALFA)
AAAAC=0.000007/1
(GnomAD)
AAAAC=0.000023/6
(TOPMED)
- HGVS:
10.
rs1485577030 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 8:123202979
(GRCh38)
8:124215219
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123202978:G:A,NC_000008.11:123202978:G:C
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
C=0.000071/1
(TOMMO)
- HGVS:
11.
rs1484502686 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:123203925
(GRCh38)
8:124216165
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123203924:C:G
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1484469598 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:123201326
(GRCh38)
8:124213566
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123201325:T:C
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(KOREAN)
C=0.000007/1
(GnomAD)
C=0.000212/4
(TOMMO)
- HGVS:
13.
rs1484172134 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 8:123201333
(GRCh38)
8:124213573
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123201332:G:
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
14.
rs1483774214 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:123202853
(GRCh38)
8:124215093
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123202852:T:C
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
15.
rs1482510550 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:123203609
(GRCh38)
8:124215849
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123203608:G:A
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00067/11
(
ALFA)
A=0.00052/9
(TOMMO)
A=0.04209/123
(KOREAN)
- HGVS:
16.
rs1482024057 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:123204740
(GRCh38)
8:124216980
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123204739:G:A
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
17.
rs1480894867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:123200797
(GRCh38)
8:124213037
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123200796:T:C
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_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:
18.
rs1480432172 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGAAGTACA>-
[Show Flanks]
- Chromosome:
- 8:123202570
(GRCh38)
8:124214810
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123202567:CATGAAGTACA:CA
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CA=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
-=0.000034/9
(TOPMED)
- HGVS:
19.
rs1478443654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:123202967
(GRCh38)
8:124215207
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123202966:T:C
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000029/4
(GnomAD)
- HGVS:
20.
rs1477671438 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:123204249
(GRCh38)
8:124216489
(GRCh37)
- Canonical SPDI:
- NC_000008.11:123204248:C:T
- Gene:
- FAM83A (Varview), FAM83A-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,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: