Links from Gene
Items: 1 to 20 of 1137
1.
rs1491481436 has merged into rs57310501 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:98178200
(GRCh38)
13:98830454
(GRCh37)
- Canonical SPDI:
- NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:98178189:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FARP1 (Varview), RNF113B (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
TTT=0.268/1342
(1000Genomes)
- HGVS:
NC_000013.11:g.98178200_98178213del, NC_000013.11:g.98178201_98178213del, NC_000013.11:g.98178203_98178213del, NC_000013.11:g.98178204_98178213del, NC_000013.11:g.98178205_98178213del, NC_000013.11:g.98178206_98178213del, NC_000013.11:g.98178207_98178213del, NC_000013.11:g.98178208_98178213del, NC_000013.11:g.98178209_98178213del, NC_000013.11:g.98178210_98178213del, NC_000013.11:g.98178211_98178213del, NC_000013.11:g.98178212_98178213del, NC_000013.11:g.98178213del, NC_000013.11:g.98178213dup, NC_000013.11:g.98178212_98178213dup, NC_000013.11:g.98178211_98178213dup, NC_000013.11:g.98178210_98178213dup, NC_000013.11:g.98178208_98178213dup, NC_000013.11:g.98178207_98178213dup, NC_000013.11:g.98178204_98178213dup, NC_000013.11:g.98178213_98178214insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.98830454_98830467del, NC_000013.10:g.98830455_98830467del, NC_000013.10:g.98830457_98830467del, NC_000013.10:g.98830458_98830467del, NC_000013.10:g.98830459_98830467del, NC_000013.10:g.98830460_98830467del, NC_000013.10:g.98830461_98830467del, NC_000013.10:g.98830462_98830467del, NC_000013.10:g.98830463_98830467del, NC_000013.10:g.98830464_98830467del, NC_000013.10:g.98830465_98830467del, NC_000013.10:g.98830466_98830467del, NC_000013.10:g.98830467del, NC_000013.10:g.98830467dup, NC_000013.10:g.98830466_98830467dup, NC_000013.10:g.98830465_98830467dup, NC_000013.10:g.98830464_98830467dup, NC_000013.10:g.98830462_98830467dup, NC_000013.10:g.98830461_98830467dup, NC_000013.10:g.98830458_98830467dup, NC_000013.10:g.98830467_98830468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1489445356 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:98176663
(GRCh38)
13:98828917
(GRCh37)
- Canonical SPDI:
- NC_000013.11:98176662:G:C
- Gene:
- FARP1 (Varview), RNF113B (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1488676825 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:98177515
(GRCh38)
13:98829769
(GRCh37)
- Canonical SPDI:
- NC_000013.11:98177514:C:T
- Gene:
- FARP1 (Varview), RNF113B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000038/10
(TOPMED)
- HGVS:
5.
rs1488430628 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATC>-
[Show Flanks]
- Chromosome:
- 13:98178872
(GRCh38)
13:98831126
(GRCh37)
- Canonical SPDI:
- NC_000013.11:98178868:ATCATC:ATC
- Gene:
- FARP1 (Varview), RNF113B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ATCATC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
6.
rs1486472956 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 13:98178143
(GRCh38)
13:98830397
(GRCh37)
- Canonical SPDI:
- NC_000013.11:98178142:GG:G
- Gene:
- FARP1 (Varview), RNF113B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0.000071/1
(
ALFA)
-=0./0
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
7.
rs1486422458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:98177363
(GRCh38)
13:98829617
(GRCh37)
- Canonical SPDI:
- NC_000013.11:98177362:T:C
- Gene:
- FARP1 (Varview), RNF113B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1485308959 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:98178742
(GRCh38)
13:98830996
(GRCh37)
- Canonical SPDI:
- NC_000013.11:98178741:C:T
- Gene:
- FARP1 (Varview), RNF113B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
9.
rs1485257474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:98177937
(GRCh38)
13:98830191
(GRCh37)
- Canonical SPDI:
- NC_000013.11:98177936:G:A
- Gene:
- FARP1 (Varview), RNF113B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_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:
10.
rs1484928916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:98177779
(GRCh38)
13:98830033
(GRCh37)
- Canonical SPDI:
- NC_000013.11:98177778:A:G
- Gene:
- FARP1 (Varview), RNF113B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
11.
rs1483615000 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 13:98178170
(GRCh38)
13:98830424
(GRCh37)
- Canonical SPDI:
- NC_000013.11:98178169:CC:
- Gene:
- FARP1 (Varview), RNF113B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS:
12.
rs1483523832 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:98176018
(GRCh38)
13:98828272
(GRCh37)
- Canonical SPDI:
- NC_000013.11:98176017:A:G
- Gene:
- FARP1 (Varview), RNF113B (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
13.
rs1483049124 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:98177921
(GRCh38)
13:98830175
(GRCh37)
- Canonical SPDI:
- NC_000013.11:98177920:A:G
- Gene:
- FARP1 (Varview), RNF113B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
14.
rs1482959307 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 13:98175744
(GRCh38)
13:98827998
(GRCh37)
- Canonical SPDI:
- NC_000013.11:98175743:C:G
- Gene:
- FARP1 (Varview), RNF113B (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000162/3
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000045/12
(TOPMED)
G=0.00067/3
(Estonian)
- HGVS:
15.
rs1482387883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 13:98177055
(GRCh38)
13:98829309
(GRCh37)
- Canonical SPDI:
- NC_000013.11:98177054:C:G,NC_000013.11:98177054:C:T
- Gene:
- FARP1 (Varview), RNF113B (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000051/1
(
ALFA)
T=0./0
(GnomAD)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1481898223 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:98177441
(GRCh38)
13:98829695
(GRCh37)
- Canonical SPDI:
- NC_000013.11:98177440:G:C
- Gene:
- FARP1 (Varview), RNF113B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
19.
rs1480171128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:98179199
(GRCh38)
13:98831453
(GRCh37)
- Canonical SPDI:
- NC_000013.11:98179198:C:T
- Gene:
- FARP1 (Varview), RNF113B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000048/6
(GnomAD)
- HGVS:
20.
rs1479834714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:98175734
(GRCh38)
13:98827988
(GRCh37)
- Canonical SPDI:
- NC_000013.11:98175733:T:C
- Gene:
- FARP1 (Varview), RNF113B (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: