Links from Gene
Items: 1 to 20 of 2044
1.
rs1490953139 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:93570205
(GRCh38)
12:93963981
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93570204:G:A
- Gene:
- SOCS2 (Varview), SOCS2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_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:
2.
rs1490927241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 12:93570935
(GRCh38)
12:93964711
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93570934:G:A,NC_000012.12:93570934:G:C,NC_000012.12:93570934:G:T
- Gene:
- SOCS2 (Varview), SOCS2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
3.
rs1490436252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:93571290
(GRCh38)
12:93965066
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93571289:C:T
- Gene:
- SOCS2 (Varview), SOCS2-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1489893156 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 12:93572147
(GRCh38)
12:93965923
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93572146:C:A,NC_000012.12:93572146:C:G
- Gene:
- SOCS2 (Varview), SOCS2-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
G=0.000156/1
(1000Genomes)
- HGVS:
NC_000012.12:g.93572147C>A, NC_000012.12:g.93572147C>G, NC_000012.11:g.93965923C>A, NC_000012.11:g.93965923C>G, XM_017020151.2:c.-253C>A, XM_017020151.2:c.-253C>G, XM_017020151.1:c.-253C>A, XM_017020151.1:c.-253C>G, XM_047429808.1:c.-442C>A, XM_047429808.1:c.-442C>G, NM_001270470.1:c.-253C>A, NM_001270470.1:c.-253C>G, XM_047429807.1:c.-442C>A, XM_047429807.1:c.-442C>G
5.
rs1489398641 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 12:93566556
(GRCh38)
12:93960332
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93566552:TATAT:TAT
- Gene:
- SOCS2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
6.
rs1489226832 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C,CCC
[Show Flanks]
- Chromosome:
- 12:93571834
(GRCh38)
12:93965611
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93571834:CCCCCC:CCCCCCC,NC_000012.12:93571834:CCCCCC:CCCCCCCCC
- Gene:
- SOCS2 (Varview), SOCS2-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCCCCCCC=0.00005/1
(
ALFA)
C=0.00621/11
(Korea1K)
- HGVS:
NC_000012.12:g.93571840dup, NC_000012.12:g.93571838_93571840dup, NC_000012.11:g.93965616dup, NC_000012.11:g.93965614_93965616dup, XM_017020151.2:c.-560dup, XM_017020151.2:c.-562_-560dup, XM_047429808.1:c.-749dup, XM_047429808.1:c.-751_-749dup, NM_001270470.1:c.-560dup, NM_001270470.1:c.-562_-560dup, NM_001270469.1:c.-288dup, NM_001270469.1:c.-290_-288dup
7.
rs1489013185 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:93572569
(GRCh38)
12:93966345
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93572568:T:G
- Gene:
- SOCS2 (Varview), SOCS2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
8.
rs1488521767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:93565745
(GRCh38)
12:93959521
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93565744:C:T
- Gene:
- SOCS2-AS1 (Varview)
- Functional Consequence:
- splice_acceptor_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000064/1
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000121/17
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
9.
rs1488244759 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 12:93572064
(GRCh38)
12:93965840
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93572063:T:C,NC_000012.12:93572063:T:G
- Gene:
- SOCS2 (Varview), SOCS2-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000012.12:g.93572064T>C, NC_000012.12:g.93572064T>G, NC_000012.11:g.93965840T>C, NC_000012.11:g.93965840T>G, XM_017020151.2:c.-336T>C, XM_017020151.2:c.-336T>G, XM_017020151.1:c.-336T>C, XM_017020151.1:c.-336T>G, XM_047429808.1:c.-525T>C, XM_047429808.1:c.-525T>G, NM_001270470.1:c.-336T>C, NM_001270470.1:c.-336T>G, XM_047429807.1:c.-525T>C, XM_047429807.1:c.-525T>G
10.
rs1487727281 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:93570849
(GRCh38)
12:93964625
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93570848:C:T
- Gene:
- SOCS2 (Varview), SOCS2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
11.
rs1487643846 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:93572601
(GRCh38)
12:93966377
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93572600:A:T
- Gene:
- SOCS2 (Varview), SOCS2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487525771 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:93573170
(GRCh38)
12:93966946
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93573169:C:T
- Gene:
- SOCS2 (Varview), SOCS2-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1486703603 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTGTCATC>-
[Show Flanks]
- Chromosome:
- 12:93572717
(GRCh38)
12:93966493
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93572715:CTTTGTCATC:C
- Gene:
- SOCS2 (Varview), SOCS2-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
-=0.000014/2
(GnomAD_exomes)
-=0.000122/17
(GnomAD)
-=0.000312/2
(1000Genomes)
- HGVS:
NC_000012.12:g.93572717_93572725del, NC_000012.11:g.93966493_93966501del, NM_003877.5:c.-181_-173del, NM_003877.4:c.-181_-173del, XM_017020155.3:c.-181_-173del, XM_017020155.2:c.-181_-173del, XM_017020155.1:c.-181_-173del, XM_017020148.3:c.-181_-173del, XM_017020148.2:c.-181_-173del, XM_017020148.1:c.-181_-173del, XM_011538936.2:c.-181_-173del, XM_011538936.1:c.-181_-173del, NM_001270467.2:c.-181_-173del, NM_001270467.1:c.-181_-173del, NM_001270468.2:c.-181_-173del, NM_001270468.1:c.-181_-173del, NM_001270469.2:c.-181_-173del, NM_001270469.1:c.-181_-173del, NM_001270471.2:c.-181_-173del, NM_001270471.1:c.-181_-173del, XM_017020151.2:c.-181_-173del, XM_017020151.1:c.-181_-173del, XM_017020152.2:c.-181_-173del, XM_017020152.1:c.-181_-173del, XM_017020147.2:c.-181_-173del, XM_017020147.1:c.-181_-173del, XR_944810.2:n.43_51del, XR_944810.1:n.235_243del, XM_017020149.2:c.-181_-173del, XM_017020149.1:c.-181_-173del, XM_011538929.2:c.-181_-173del, XM_011538929.1:c.-181_-173del, XM_011538935.2:c.-181_-173del, XM_011538935.1:c.-181_-173del, XM_047429808.1:c.-181_-173del, NM_001270470.1:c.-181_-173del, XM_047429807.1:c.-181_-173del
14.
rs1486540142 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:93567955
(GRCh38)
12:93961731
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93567954:C:G
- Gene:
- SOCS2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1486193020 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:93568045
(GRCh38)
12:93961821
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93568044:G:A,NC_000012.12:93568044:G:C
- Gene:
- SOCS2 (Varview), SOCS2-AS1 (Varview)
- Functional Consequence:
- intron_variant,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:
16.
rs1485760484 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:93571566
(GRCh38)
12:93965342
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93571565:C:T
- Gene:
- SOCS2 (Varview), SOCS2-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
18.
rs1484582268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:93568851
(GRCh38)
12:93962627
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93568850:T:C
- Gene:
- SOCS2 (Varview), SOCS2-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,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:
19.
rs1484257139 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGAG>-
[Show Flanks]
- Chromosome:
- 12:93565644
(GRCh38)
12:93959420
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93565640:GAGTGAG:GAG
- Gene:
- SOCS2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
20.
rs1484183198 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:93569945
(GRCh38)
12:93963721
(GRCh37)
- Canonical SPDI:
- NC_000012.12:93569944:A:C
- Gene:
- SOCS2 (Varview), SOCS2-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: