Links from Nucleotide
Items: 1 to 20 of 74
3.
rs1483282289 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:113582964
(GRCh38)
2:114340541
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113582963:T:C
- Gene:
- WASH2P (Varview), MIR1302-3 (Varview), LOC124907875 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1447740062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:113582990
(GRCh38)
2:114340567
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113582989:A:C
- Gene:
- WASH2P (Varview), MIR1302-3 (Varview), LOC124907875 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000012/3
(GnomAD_exomes)
- HGVS:
8.
rs1442557260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:113582963
(GRCh38)
2:114340540
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113582962:A:C
- Gene:
- WASH2P (Varview), MIR1302-3 (Varview), LOC124907875 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00046/8
(TOMMO)
C=0.00055/1
(Korea1K)
- HGVS:
9.
rs1441983211 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:113582971
(GRCh38)
2:114340548
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113582970:T:G
- Gene:
- WASH2P (Varview), MIR1302-3 (Varview), LOC124907875 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
12.
rs1417612123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:113583069
(GRCh38)
2:114340646
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113583068:A:G
- Gene:
- WASH2P (Varview), MIR1302-3 (Varview), LOC124907875 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1368244950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 2:113583042
(GRCh38)
2:114340619
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113583041:T:A,NC_000002.12:113583041:T:G
- Gene:
- WASH2P (Varview), MIR1302-3 (Varview), LOC124907875 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00004/1
(TOMMO)
- HGVS:
19.
rs1353777474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:113583032
(GRCh38)
2:114340609
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113583031:T:C
- Gene:
- WASH2P (Varview), MIR1302-3 (Varview), LOC124907875 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS: