Links from Nucleotide
Items: 1 to 20 of 1213
1.
rs1490110749 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:109320595
(GRCh38)
5:108656296
(GRCh37)
- Canonical SPDI:
- NC_000005.10:109320594:A:G
- Gene:
- LOC285638 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
2.
rs1489714249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:109320141
(GRCh38)
5:108655842
(GRCh37)
- Canonical SPDI:
- NC_000005.10:109320140:T:C
- Gene:
- LOC285638 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
3.
rs1488422217 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 5:109319876
(GRCh38)
5:108655577
(GRCh37)
- Canonical SPDI:
- NC_000005.10:109319875:C:G,NC_000005.10:109319875:C:T
- Gene:
- LOC285638 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1486936690 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 5:109323134
(GRCh38)
5:108658835
(GRCh37)
- Canonical SPDI:
- NC_000005.10:109323133:TT:T
- Gene:
- LOC285638 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
5.
rs1486816701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 5:109326224
(GRCh38)
5:108661925
(GRCh37)
- Canonical SPDI:
- NC_000005.10:109326223:C:A,NC_000005.10:109326223:C:T
- Gene:
- LOC285638 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
T=0.000177/3
(TOMMO)
- HGVS:
6.
rs1486520312 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:109323539
(GRCh38)
5:108659240
(GRCh37)
- Canonical SPDI:
- NC_000005.10:109323538:G:A
- Gene:
- LOC285638 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
7.
rs1486004997 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:109323546
(GRCh38)
5:108659247
(GRCh37)
- Canonical SPDI:
- NC_000005.10:109323545:C:G
- Gene:
- LOC285638 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1485584128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:109325688
(GRCh38)
5:108661389
(GRCh37)
- Canonical SPDI:
- NC_000005.10:109325687:A:C
- Gene:
- LOC285638 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
10.
rs1485166338 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGAT>-
[Show Flanks]
- Chromosome:
- 5:109237607
(GRCh38)
5:108573308
(GRCh37)
- Canonical SPDI:
- NC_000005.10:109237604:ATGAGAT:AT
- Gene:
- LOC285638 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
11.
rs1484622263 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 5:109237226
(GRCh38)
5:108572927
(GRCh37)
- Canonical SPDI:
- NC_000005.10:109237225:G:T
- Gene:
- LOC285638 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1483927997 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:109325581
(GRCh38)
5:108661282
(GRCh37)
- Canonical SPDI:
- NC_000005.10:109325580:C:T
- Gene:
- LOC285638 (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:
15.
rs1482252775 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 5:109323402
(GRCh38)
5:108659103
(GRCh37)
- Canonical SPDI:
- NC_000005.10:109323401:C:A,NC_000005.10:109323401:C:T
- Gene:
- LOC285638 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1480988817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 5:109320237
(GRCh38)
5:108655938
(GRCh37)
- Canonical SPDI:
- NC_000005.10:109320236:C:G,NC_000005.10:109320236:C:T
- Gene:
- LOC285638 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1480281650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 5:109324488
(GRCh38)
5:108660189
(GRCh37)
- Canonical SPDI:
- NC_000005.10:109324487:G:A,NC_000005.10:109324487:G:T
- Gene:
- LOC285638 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1479250728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:109324987
(GRCh38)
5:108660688
(GRCh37)
- Canonical SPDI:
- NC_000005.10:109324986:T:C
- Gene:
- LOC285638 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1478139073 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:109237887
(GRCh38)
5:108573588
(GRCh37)
- Canonical SPDI:
- NC_000005.10:109237886:T:C
- Gene:
- LOC285638 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1477146535 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 5:109323009
(GRCh38)
5:108658710
(GRCh37)
- Canonical SPDI:
- NC_000005.10:109323008:C:
- Gene:
- LOC285638 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00033/5
(
ALFA)
-=0.00005/7
(GnomAD)
-=0.001116/5
(Estonian)
- HGVS: