Links from Gene
Items: 1 to 20 of 2430
2.
rs1491276018 has merged into rs3039575 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:161724442
(GRCh38)
1:161694232
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161724425:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:161724425:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:161724425:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:161724425:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:161724425:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:161724425:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161724425:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161724425:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161724425:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161724425:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161724425:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161724425:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161724425:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FCRLB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.4762/2385
(1000Genomes)
- HGVS:
NC_000001.11:g.161724442_161724448del, NC_000001.11:g.161724443_161724448del, NC_000001.11:g.161724444_161724448del, NC_000001.11:g.161724445_161724448del, NC_000001.11:g.161724446_161724448del, NC_000001.11:g.161724447_161724448del, NC_000001.11:g.161724448del, NC_000001.11:g.161724448dup, NC_000001.11:g.161724447_161724448dup, NC_000001.11:g.161724446_161724448dup, NC_000001.11:g.161724445_161724448dup, NC_000001.11:g.161724444_161724448dup, NC_000001.11:g.161724443_161724448dup, NC_000001.10:g.161694232_161694238del, NC_000001.10:g.161694233_161694238del, NC_000001.10:g.161694234_161694238del, NC_000001.10:g.161694235_161694238del, NC_000001.10:g.161694236_161694238del, NC_000001.10:g.161694237_161694238del, NC_000001.10:g.161694238del, NC_000001.10:g.161694238dup, NC_000001.10:g.161694237_161694238dup, NC_000001.10:g.161694236_161694238dup, NC_000001.10:g.161694235_161694238dup, NC_000001.10:g.161694234_161694238dup, NC_000001.10:g.161694233_161694238dup
3.
rs1491037212 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 1:161724449
(GRCh38)
1:161694239
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161724447:ATA:A
- Gene:
- FCRLB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00057/16
(TOMMO)
- HGVS:
4.
rs1490808536 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:161719581
(GRCh38)
1:161689371
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161719580:A:G
- Gene:
- FCRLB (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000057/15
(TOPMED)
- HGVS:
5.
rs1490797773 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:161722048
(GRCh38)
1:161691838
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161722044:ACACA:ACA
- Gene:
- FCRLB (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACA=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
-=0.000057/15
(TOPMED)
- HGVS:
6.
rs1490783446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:161720704
(GRCh38)
1:161690494
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161720703:C:A,NC_000001.11:161720703:C:T
- Gene:
- FCRLB (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)
- HGVS:
7.
rs1490685655 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:161719614
(GRCh38)
1:161689404
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161719613:G:T
- Gene:
- FCRLB (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000046/6
(GnomAD)
- HGVS:
8.
rs1490099961 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:161722149
(GRCh38)
1:161691939
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161722148:T:G
- Gene:
- FCRLB (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
9.
rs1489942685 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:161722293
(GRCh38)
1:161692083
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161722292:G:A
- Gene:
- FCRLB (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
10.
rs1489679853 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:161727854
(GRCh38)
1:161697644
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161727853:A:C
- Gene:
- FCRLB (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
NC_000001.11:g.161727854A>C, NC_000001.10:g.161697644A>C, NM_001002901.4:c.*192A>C, NM_001002901.3:c.*192A>C, NM_001002901.2:c.*192A>C, NM_001320241.1:c.*192A>C, NM_001288831.1:c.*541A>C, NM_001288832.1:c.*541A>C, NM_001288829.1:c.*371A>C, NM_001288830.1:c.*371A>C, NM_152378.1:c.*541A>C
11.
rs1489526431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:161722900
(GRCh38)
1:161692690
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161722899:C:G
- Gene:
- FCRLB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00003/8
(TOPMED)
- HGVS:
12.
rs1489358563 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:161726621
(GRCh38)
1:161696411
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161726620:G:A
- Gene:
- FCRLB (Varview)
- Functional Consequence:
- 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:
13.
rs1489304719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:161724523
(GRCh38)
1:161694313
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161724522:G:A
- Gene:
- FCRLB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
15.
rs1489185952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:161726955
(GRCh38)
1:161696745
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161726954:T:G
- Gene:
- FCRLB (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- HGVS:
NC_000001.11:g.161726955T>G, NC_000001.10:g.161696745T>G, NM_001002901.4:c.827T>G, NM_001002901.3:c.827T>G, NM_001002901.2:c.827T>G, NM_001320241.1:c.827T>G, NM_001288831.1:c.723T>G, NM_001288832.1:c.702T>G, NM_001288829.1:c.682T>G, NM_001288830.1:c.661T>G, NM_152378.1:c.834T>G, NP_001002901.1:p.Val276Gly, NP_001307170.1:p.Val276Gly, NP_001275760.1:p.Cys241Trp, NP_001275761.1:p.Cys234Trp, NP_001275758.1:p.Ser228Ala, NP_001275759.1:p.Ser221Ala
17.
rs1488775736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:161725829
(GRCh38)
1:161695619
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161725828:A:G
- Gene:
- FCRLB (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00016/1
(1000Genomes)
- HGVS:
NC_000001.11:g.161725829A>G, NC_000001.10:g.161695619A>G, NM_001002901.4:c.316A>G, NM_001002901.3:c.316A>G, NM_001002901.2:c.316A>G, NM_001320241.1:c.316A>G, NM_001288831.1:c.316A>G, NM_001288832.1:c.295A>G, NM_001288829.1:c.316A>G, NM_001288830.1:c.295A>G, NP_001002901.1:p.Ile106Val, NP_001307170.1:p.Ile106Val, NP_001275760.1:p.Ile106Val, NP_001275761.1:p.Ile99Val, NP_001275758.1:p.Ile106Val, NP_001275759.1:p.Ile99Val
18.
rs1488380502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:161726193
(GRCh38)
1:161695983
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161726192:T:C
- Gene:
- FCRLB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1488081399 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:161727512
(GRCh38)
1:161697302
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161727511:A:T
- Gene:
- FCRLB (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.161727512A>T, NC_000001.10:g.161697302A>T, NM_001002901.4:c.1131A>T, NM_001002901.3:c.1131A>T, NM_001002901.2:c.1131A>T, NM_001320241.1:c.1131A>T, NM_001288831.1:c.*199A>T, NM_001288832.1:c.*199A>T, NM_001288829.1:c.*29A>T, NM_001288830.1:c.*29A>T, NM_152378.1:c.*199A>T, NP_001002901.1:p.Glu377Asp, NP_001307170.1:p.Glu377Asp
20.
rs1487949431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:161727885
(GRCh38)
1:161697675
(GRCh37)
- Canonical SPDI:
- NC_000001.11:161727884:C:T
- Gene:
- FCRLB (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000177/3
(TOMMO)
T=0.000342/1
(KOREAN)
T=0.000546/1
(Korea1K)
- HGVS:
NC_000001.11:g.161727885C>T, NC_000001.10:g.161697675C>T, NM_001002901.4:c.*223C>T, NM_001002901.3:c.*223C>T, NM_001002901.2:c.*223C>T, NM_001320241.1:c.*223C>T, NM_001288831.1:c.*572C>T, NM_001288832.1:c.*572C>T, NM_001288829.1:c.*402C>T, NM_001288830.1:c.*402C>T, NM_152378.1:c.*572C>T