Links from Nucleotide
Items: 1 to 20 of 527
2.
rs1489226288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:62867746
(GRCh38)
9:66523570
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62867745:G:A
- Gene:
- LERFS (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.00004/1
(TOMMO)
- HGVS:
3.
rs1488865676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 9:62897710
(GRCh38)
9:66553534
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62897709:G:A,NC_000009.12:62897709:G:T
- Gene:
- LERFS (Varview), FAM88B (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000177/5
(TOMMO)
- HGVS:
NC_000009.12:g.62897710G>A, NC_000009.12:g.62897710G>T, NC_000009.11:g.66553534G>A, NC_000009.11:g.66553534G>T, NR_126047.1:n.335G>A, NR_126047.1:n.335G>T, NR_122076.1:n.378C>T, NR_122076.1:n.378C>A, NR_122077.1:n.378C>T, NR_122077.1:n.378C>A, NM_203449.1:c.107C>T, NM_203449.1:c.107C>A, NM_203448.1:c.101G>A, NM_203448.1:c.101G>T
4.
rs1487314711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 9:62867846
(GRCh38)
9:66523670
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62867845:G:A,NC_000009.12:62867845:G:C
- Gene:
- LERFS (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000107/15
(GnomAD)
- HGVS:
8.
rs1482911552 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:62859185
(GRCh38)
9:66515009
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62859184:T:C
- Gene:
- LERFS (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000084/1
(
ALFA)
C=0.000078/11
(GnomAD)
C=0.000312/2
(1000Genomes)
- HGVS:
10.
rs1479329860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 9:62897919
(GRCh38)
9:66553743
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62897918:G:A,NC_000009.12:62897918:G:T
- Gene:
- LERFS (Varview), FAM88B (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000036/5
(GnomAD_exomes)
A=0.000041/5
(GnomAD)
T=0.000106/3
(TOMMO)
A=0.000468/3
(1000Genomes)
- HGVS:
NC_000009.12:g.62897919G>A, NC_000009.12:g.62897919G>T, NC_000009.11:g.66553743G>A, NC_000009.11:g.66553743G>T, NR_126047.1:n.401G>A, NR_126047.1:n.401G>T, NR_122076.1:n.169C>T, NR_122076.1:n.169C>A, NR_122077.1:n.169C>T, NR_122077.1:n.169C>A, NM_203449.1:c.-103C>T, NM_203449.1:c.-103C>A, NM_203448.1:c.195G>A, NM_203448.1:c.195G>T
12.
rs1478208722 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:62898008
(GRCh38)
9:66553832
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62898007:A:T
- Gene:
- LERFS (Varview), FAM88B (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1476303676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:62867738
(GRCh38)
9:66523562
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62867737:T:A
- Gene:
- LERFS (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1474291532 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:62857989
(GRCh38)
9:66513813
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62857988:T:C
- Gene:
- LERFS (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000084/1
(
ALFA)
C=0.000036/5
(GnomAD)
- HGVS:
20.
rs1474239644 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 9:62898072
(GRCh38)
9:66553896
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62898071:G:A,NC_000009.12:62898071:G:T
- Gene:
- LERFS (Varview), FAM88B (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
T=0.000036/1
(TOMMO)
- HGVS:
NC_000009.12:g.62898072G>A, NC_000009.12:g.62898072G>T, NC_000009.11:g.66553896G>A, NC_000009.11:g.66553896G>T, NR_126047.1:n.554G>A, NR_126047.1:n.554G>T, NR_122076.1:n.16C>T, NR_122076.1:n.16C>A, NR_122077.1:n.16C>T, NR_122077.1:n.16C>A, NM_203449.1:c.-256C>T, NM_203449.1:c.-256C>A