Links from Nucleotide
Items: 1 to 20 of 2052
1.
rs1491586361 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TT
[Show Flanks]
- Chromosome:
- 20:56246806
(GRCh38)
20:54821863
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56246806:T:TTT
- Gene:
- MC3R (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TTT=0./0
(
ALFA)
TT=0.00043/2
(GnomAD)
- HGVS:
2.
rs1491544201 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 20:56246800
(GRCh38)
20:54821856
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56246799:AT:
- Gene:
- MC3R (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.00008/8
(GnomAD)
-=0.00031/2
(1000Genomes)
- HGVS:
3.
rs1491395412 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 20:56245031
(GRCh38)
20:54820088
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56245031:C:CC
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000012/1
(GnomAD)
- HGVS:
4.
rs1491387487 has merged into rs759507180 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 20:56246803
(GRCh38)
20:54821859
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56246800:TGTG:TG,NC_000020.11:56246800:TGTG:TGTGTG,NC_000020.11:56246800:TGTG:TGTGTGTG,NC_000020.11:56246800:TGTG:TGTGTGTGTG,NC_000020.11:56246800:TGTG:TGTGTGTGTGTG,NC_000020.11:56246800:TGTG:TGTGTGTGTGTGTG
- Gene:
- MC3R (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTG=0./0
(
ALFA)
TGTGTGTGTG=0.000004/1
(TOPMED)
- HGVS:
NC_000020.11:g.56246801TG[1], NC_000020.11:g.56246801TG[3], NC_000020.11:g.56246801TG[4], NC_000020.11:g.56246801TG[5], NC_000020.11:g.56246801TG[6], NC_000020.11:g.56246801TG[7], NC_000020.10:g.54821857TG[1], NC_000020.10:g.54821857TG[3], NC_000020.10:g.54821857TG[4], NC_000020.10:g.54821857TG[5], NC_000020.10:g.54821857TG[6], NC_000020.10:g.54821857TG[7], NG_012200.1:g.3070TG[1], NG_012200.1:g.3070TG[3], NG_012200.1:g.3070TG[4], NG_012200.1:g.3070TG[5], NG_012200.1:g.3070TG[6], NG_012200.1:g.3070TG[7]
5.
rs1491384472 has merged into rs35617752 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 20:56246824
(GRCh38)
20:54821880
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56246805:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000020.11:56246805:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000020.11:56246805:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:56246805:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:56246805:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:56246805:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:56246805:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:56246805:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:56246805:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:56246805:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:56246805:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:56246805:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:56246805:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:56246805:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:56246805:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:56246805:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- MC3R (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000020.11:g.56246806GT[9], NC_000020.11:g.56246806GT[10], NC_000020.11:g.56246806GT[11], NC_000020.11:g.56246806GT[12], NC_000020.11:g.56246806GT[13], NC_000020.11:g.56246806GT[14], NC_000020.11:g.56246806GT[15], NC_000020.11:g.56246806GT[16], NC_000020.11:g.56246806GT[17], NC_000020.11:g.56246806GT[19], NC_000020.11:g.56246806GT[20], NC_000020.11:g.56246806GT[21], NC_000020.11:g.56246806GT[22], NC_000020.11:g.56246806GT[23], NC_000020.11:g.56246806GT[24], NC_000020.11:g.56246806GT[26], NC_000020.10:g.54821862GT[9], NC_000020.10:g.54821862GT[10], NC_000020.10:g.54821862GT[11], NC_000020.10:g.54821862GT[12], NC_000020.10:g.54821862GT[13], NC_000020.10:g.54821862GT[14], NC_000020.10:g.54821862GT[15], NC_000020.10:g.54821862GT[16], NC_000020.10:g.54821862GT[17], NC_000020.10:g.54821862GT[19], NC_000020.10:g.54821862GT[20], NC_000020.10:g.54821862GT[21], NC_000020.10:g.54821862GT[22], NC_000020.10:g.54821862GT[23], NC_000020.10:g.54821862GT[24], NC_000020.10:g.54821862GT[26], NG_012200.1:g.3075GT[9], NG_012200.1:g.3075GT[10], NG_012200.1:g.3075GT[11], NG_012200.1:g.3075GT[12], NG_012200.1:g.3075GT[13], NG_012200.1:g.3075GT[14], NG_012200.1:g.3075GT[15], NG_012200.1:g.3075GT[16], NG_012200.1:g.3075GT[17], NG_012200.1:g.3075GT[19], NG_012200.1:g.3075GT[20], NG_012200.1:g.3075GT[21], NG_012200.1:g.3075GT[22], NG_012200.1:g.3075GT[23], NG_012200.1:g.3075GT[24], NG_012200.1:g.3075GT[26]
6.
rs1491231326 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 20:56245031
(GRCh38)
20:54820087
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56245030:AC:
- Validated:
- by frequency
- MAF:
-=0.000016/2
(GnomAD)
- HGVS:
10.
rs1489728024 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:56246950
(GRCh38)
20:54822006
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56246949:T:C
- Gene:
- MC3R (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000342/1
(KOREAN)
- HGVS:
11.
rs1489694853 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:56247990
(GRCh38)
20:54823046
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56247989:G:A
- Gene:
- MC3R (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1489343630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 20:56245796
(GRCh38)
20:54820852
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56245795:A:G,NC_000020.11:56245795:A:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000546/1
(Korea1K)
- HGVS:
13.
rs1489213817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:56244874
(GRCh38)
20:54819930
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56244873:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000026/7
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
14.
rs1488689194 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 20:56250091
(GRCh38)
20:54825147
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56250090:C:G
- Gene:
- MC3R (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1488413663 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:56250249
(GRCh38)
20:54825305
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56250248:C:T
- Gene:
- MC3R (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.00005/7
(GnomAD)
- HGVS:
16.
rs1488322684 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:56246448
(GRCh38)
20:54821504
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56246447:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1488298833 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:56245280
(GRCh38)
20:54820336
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56245279:T:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1487846955 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 20:56249107
(GRCh38)
20:54824163
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56249106:T:G
- Gene:
- MC3R (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
19.
rs1487710735 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 20:56246264
(GRCh38)
20:54821320
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56246263:T:C,NC_000020.11:56246263:T:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000106/2
(TOMMO)
C=0.000546/1
(Korea1K)
- HGVS:
20.
rs1487593286 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 20:56246506
(GRCh38)
20:54821562
(GRCh37)
- Canonical SPDI:
- NC_000020.11:56246505:CC:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS: