Links from Gene
Items: 1 to 20 of 2144
1.
rs1490769747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:95862370
(GRCh38)
12:96256148
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95862369:G:A
- Gene:
- SNRPF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
2.
rs1490754805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:95861056
(GRCh38)
12:96254834
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95861055:G:A
- Gene:
- SNRPF (Varview)
- Functional Consequence:
- 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:
3.
rs1489952876 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:95862899
(GRCh38)
12:96256677
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95862898:C:G
- Gene:
- SNRPF (Varview)
- Functional Consequence:
- 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:
4.
rs1488667131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:95858947
(GRCh38)
12:96252725
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95858946:T:G
- Gene:
- SNRPF (Varview), SNRPF-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
5.
rs1488186513 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:95861874
(GRCh38)
12:96255652
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95861873:G:T
- Gene:
- SNRPF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1486690351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:95866786
(GRCh38)
12:96260564
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95866785:A:G
- Gene:
- CCDC38 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00005/7
(GnomAD)
G=0.000121/32
(TOPMED)
- HGVS:
8.
rs1486417312 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:95866102
(GRCh38)
12:96259880
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95866101:A:G
- Gene:
- SNRPF (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
G=0.000005/1
(GnomAD_exomes)
- HGVS:
9.
rs1486415184 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:95860789
(GRCh38)
12:96254567
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95860788:A:T
- Gene:
- SNRPF (Varview), SNRPF-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1486212904 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:95857992
(GRCh38)
12:96251770
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95857991:A:G
- Gene:
- SNRPF (Varview), SNRPF-DT (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
12.
rs1485593485 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 12:95859739
(GRCh38)
12:96253517
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95859738:C:A,NC_000012.12:95859738:C:G,NC_000012.12:95859738:C:T
- Gene:
- SNRPF (Varview), SNRPF-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1485061109 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:95858602
(GRCh38)
12:96252380
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95858601:A:G
- Gene:
- SNRPF (Varview), SNRPF-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1484454134 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:95859880
(GRCh38)
12:96253658
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95859879:A:G
- Gene:
- SNRPF (Varview), SNRPF-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1484358303 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:95865107
(GRCh38)
12:96258885
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95865106:T:G
- Gene:
- SNRPF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1484249728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:95857109
(GRCh38)
12:96250887
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95857108:C:G
- Gene:
- SNRPF (Varview), SNRPF-DT (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,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:
17.
rs1484226508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:95864042
(GRCh38)
12:96257820
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95864041:T:C
- Gene:
- SNRPF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1483733563 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:95860411
(GRCh38)
12:96254189
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95860410:T:C
- Gene:
- SNRPF (Varview), SNRPF-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
19.
rs1483327721 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 12:95864694
(GRCh38)
12:96258472
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95864693:C:A,NC_000012.12:95864693:C:T
- Gene:
- SNRPF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1483217262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:95863893
(GRCh38)
12:96257671
(GRCh37)
- Canonical SPDI:
- NC_000012.12:95863892:G:A,NC_000012.12:95863892:G:T
- Gene:
- SNRPF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
G=0.5/1
(SGDP_PRJ)
- HGVS: