Links from Nucleotide
Items: 1 to 20 of 650
1.
rs1490752655 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:91775703
(GRCh38)
2:91963729
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91775702:C:G
- Gene:
- GGT8P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000057/15
(TOPMED)
G=0.000057/8
(GnomAD)
- HGVS:
2.
rs1490139904 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:91781327
(GRCh38)
2:91969353
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91781326:G:C
- Gene:
- GGT8P (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=0.000021/3
(GnomAD)
- HGVS:
3.
rs1489426663 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:91782117
(GRCh38)
2:91970143
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91782116:G:A,NC_000002.12:91782116:G:T
- Gene:
- GGT8P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
- HGVS:
4.
rs1488224410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:91780424
(GRCh38)
2:91968450
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91780423:G:T
- Gene:
- GGT8P (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:
5.
rs1487871728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:91780724
(GRCh38)
2:91968750
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91780723:G:A
- Gene:
- GGT8P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000342/1
(KOREAN)
- HGVS:
6.
rs1486779466 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:91781665
(GRCh38)
2:91969691
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91781664:T:C
- Gene:
- GGT8P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1485740129 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 2:91781091
(GRCh38)
2:91969117
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91781090:T:A,NC_000002.12:91781090:T:G
- Gene:
- GGT8P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
G=0.003821/7
(Korea1K)
- HGVS:
8.
rs1483709785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:91780439
(GRCh38)
2:91968465
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91780438:A:T
- Gene:
- GGT8P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
9.
rs1482088622 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 2:91780877
(GRCh38)
2:91968903
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91780876:CCC:CC,NC_000002.12:91780876:CCC:CCCC
- Gene:
- GGT8P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCC=0./0
(
ALFA)
-=0.000121/17
(GnomAD)
- HGVS:
10.
rs1481962855 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 2:91782112
(GRCh38)
2:91970138
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91782109:AGAG:AG
- Gene:
- GGT8P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000015/2
(GnomAD)
- HGVS:
11.
rs1481665382 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 2:91781775
(GRCh38)
2:91969801
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91781774:C:A,NC_000002.12:91781774:C:T
- Gene:
- GGT8P (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:
12.
rs1480018807 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:91781687
(GRCh38)
2:91969713
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91781686:C:A
- Gene:
- GGT8P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1478924183 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:91781862
(GRCh38)
2:91969888
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91781861:G:C
- Gene:
- GGT8P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1478552559 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGTGG
[Show Flanks]
- Chromosome:
- 2:91780419
(GRCh38)
2:91968446
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91780419:GGTGG:GGTGGGGTGG
- Gene:
- GGT8P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGTGGGGTGG=0./0
(
ALFA)
GGTGG=0.000008/2
(TOPMED)
- HGVS:
15.
rs1476966497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:91781211
(GRCh38)
2:91969237
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91781210:T:C
- Gene:
- GGT8P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1476546420 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:91775438
(GRCh38)
2:91963464
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91775437:T:G
- Gene:
- GGT8P (Varview)
- Functional Consequence:
- non_coding_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.
rs1475643212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:91781477
(GRCh38)
2:91969503
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91781476:G:A
- Gene:
- GGT8P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
19.
rs1475378795 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:91780478
(GRCh38)
2:91968504
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91780477:C:T
- Gene:
- GGT8P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1474006606 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 2:91780751
(GRCh38)
2:91968777
(GRCh37)
- Canonical SPDI:
- NC_000002.12:91780750:T:
- Gene:
- GGT8P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS: