Links from Nucleotide
Items: 1 to 20 of 109
1.
rs1484027382 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:100000923
(GRCh38)
6:100448799
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100000922:G:T
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
2.
rs1480878970 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:99994084
(GRCh38)
6:100441960
(GRCh37)
- Canonical SPDI:
- NC_000006.12:99994083:T:G
- Gene:
- MCHR2 (Varview), MCHR2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
3.
rs1449521724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:99994068
(GRCh38)
6:100441944
(GRCh37)
- Canonical SPDI:
- NC_000006.12:99994067:G:C
- Gene:
- MCHR2 (Varview), MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1444455339 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:99994202
(GRCh38)
6:100442078
(GRCh37)
- Canonical SPDI:
- NC_000006.12:99994201:C:T
- Gene:
- MCHR2 (Varview), MCHR2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_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.
rs1435308758 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:100076382
(GRCh38)
6:100524258
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100076381:T:C
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1408289982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 6:99994203
(GRCh38)
6:100442079
(GRCh37)
- Canonical SPDI:
- NC_000006.12:99994202:G:A,NC_000006.12:99994202:G:C
- Gene:
- MCHR2 (Varview), MCHR2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
NC_000006.12:g.99994203G>A, NC_000006.12:g.99994203G>C, NC_000006.11:g.100442079G>A, NC_000006.11:g.100442079G>C, NM_032503.3:c.-56C>T, NM_032503.3:c.-56C>G, NM_032503.2:c.-56C>T, NM_032503.2:c.-56C>G, XM_024446571.2:c.-467C>T, XM_024446571.2:c.-467C>G, NM_001040179.2:c.-295C>T, NM_001040179.2:c.-295C>G, NM_001040179.1:c.-295C>T, NM_001040179.1:c.-295C>G, NR_038384.1:n.166G>A, NR_038384.1:n.166G>C
8.
rs1408268942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:100076335
(GRCh38)
6:100524211
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100076334:C:T
- Gene:
- MCHR2-AS1 (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:
9.
rs1404362305 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 6:99994056
(GRCh38)
6:100441932
(GRCh37)
- Canonical SPDI:
- NC_000006.12:99994055:C:A,NC_000006.12:99994055:C:G
- Gene:
- MCHR2 (Varview), MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
G=0.000685/2
(KOREAN)
- HGVS:
NC_000006.12:g.99994056C>A, NC_000006.12:g.99994056C>G, NC_000006.11:g.100441932C>A, NC_000006.11:g.100441932C>G, XM_024446571.2:c.-320G>T, XM_024446571.2:c.-320G>C, NM_001040179.2:c.-148G>T, NM_001040179.2:c.-148G>C, NM_001040179.1:c.-148G>T, NM_001040179.1:c.-148G>C, NR_038384.1:n.19C>A, NR_038384.1:n.19C>G
10.
rs1386831503 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:100076394
(GRCh38)
6:100524270
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100076393:T:C
- Gene:
- MCHR2-AS1 (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=0.000014/2
(GnomAD)
- HGVS:
11.
rs1376699277 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:100076379
(GRCh38)
6:100524255
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100076378:A:G
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000034/9
(TOPMED)
- HGVS:
12.
rs1374973948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:100000831
(GRCh38)
6:100448707
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100000830:G:C
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.0002/1
(
ALFA)
C=0.0002/1
(Estonian)
- HGVS:
13.
rs1364255318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:100000858
(GRCh38)
6:100448734
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100000857:G:A
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000057/8
(GnomAD)
- HGVS:
14.
rs1354977673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:99994052
(GRCh38)
6:100441928
(GRCh37)
- Canonical SPDI:
- NC_000006.12:99994051:C:T
- Gene:
- MCHR2 (Varview), MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1352910491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 6:100000982
(GRCh38)
6:100448858
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100000981:A:C,NC_000006.12:100000981:A:G
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1345804140 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:100000963
(GRCh38)
6:100448839
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100000962:T:C
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
18.
rs1333824190 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AAAC
[Show Flanks]
- Chromosome:
- 6:100076398
(GRCh38)
6:100524275
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100076398:AAAC:AAACAAAC
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAACAAAC=0./0
(
ALFA)
AAAC=0.000015/4
(TOPMED)
AAAC=0.000036/5
(GnomAD)
- HGVS:
19.
rs1328725613 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:100076242
(GRCh38)
6:100524118
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100076241:G:A
- Gene:
- MCHR2-AS1 (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)
- HGVS:
20.
rs1312094642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:100076380
(GRCh38)
6:100524256
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100076379:T:A
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
- HGVS: