Links from Gene
Items: 1 to 20 of 1000
1.
rs1491567656 has merged into rs201926112 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:100041819
(GRCh38)
6:100489695
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100041808:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAA=0./0
(GENOME_DK)
-=0.0084/42
(1000Genomes)
- HGVS:
NC_000006.12:g.100041819_100041834del, NC_000006.12:g.100041820_100041834del, NC_000006.12:g.100041821_100041834del, NC_000006.12:g.100041822_100041834del, NC_000006.12:g.100041823_100041834del, NC_000006.12:g.100041824_100041834del, NC_000006.12:g.100041825_100041834del, NC_000006.12:g.100041826_100041834del, NC_000006.12:g.100041827_100041834del, NC_000006.12:g.100041828_100041834del, NC_000006.12:g.100041829_100041834del, NC_000006.12:g.100041830_100041834del, NC_000006.12:g.100041831_100041834del, NC_000006.12:g.100041832_100041834del, NC_000006.12:g.100041833_100041834del, NC_000006.12:g.100041834del, NC_000006.12:g.100041834dup, NC_000006.12:g.100041833_100041834dup, NC_000006.12:g.100041831_100041834dup, NC_000006.12:g.100041828_100041834dup, NC_000006.12:g.100041823_100041834dup, NC_000006.12:g.100041820_100041834dup, NC_000006.11:g.100489695_100489710del, NC_000006.11:g.100489696_100489710del, NC_000006.11:g.100489697_100489710del, NC_000006.11:g.100489698_100489710del, NC_000006.11:g.100489699_100489710del, NC_000006.11:g.100489700_100489710del, NC_000006.11:g.100489701_100489710del, NC_000006.11:g.100489702_100489710del, NC_000006.11:g.100489703_100489710del, NC_000006.11:g.100489704_100489710del, NC_000006.11:g.100489705_100489710del, NC_000006.11:g.100489706_100489710del, NC_000006.11:g.100489707_100489710del, NC_000006.11:g.100489708_100489710del, NC_000006.11:g.100489709_100489710del, NC_000006.11:g.100489710del, NC_000006.11:g.100489710dup, NC_000006.11:g.100489709_100489710dup, NC_000006.11:g.100489707_100489710dup, NC_000006.11:g.100489704_100489710dup, NC_000006.11:g.100489699_100489710dup, NC_000006.11:g.100489696_100489710dup
2.
rs1491546994 has merged into rs869251875 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:100026540
(GRCh38)
6:100474416
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100026527:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.100026540_100026554del, NC_000006.12:g.100026541_100026554del, NC_000006.12:g.100026542_100026554del, NC_000006.12:g.100026543_100026554del, NC_000006.12:g.100026544_100026554del, NC_000006.12:g.100026545_100026554del, NC_000006.12:g.100026546_100026554del, NC_000006.12:g.100026547_100026554del, NC_000006.12:g.100026548_100026554del, NC_000006.12:g.100026549_100026554del, NC_000006.12:g.100026550_100026554del, NC_000006.12:g.100026551_100026554del, NC_000006.12:g.100026552_100026554del, NC_000006.12:g.100026553_100026554del, NC_000006.12:g.100026554del, NC_000006.12:g.100026554dup, NC_000006.12:g.100026553_100026554dup, NC_000006.12:g.100026552_100026554dup, NC_000006.12:g.100026551_100026554dup, NC_000006.12:g.100026550_100026554dup, NC_000006.12:g.100026549_100026554dup, NC_000006.12:g.100026548_100026554dup, NC_000006.12:g.100026547_100026554dup, NC_000006.12:g.100026546_100026554dup, NC_000006.12:g.100026545_100026554dup, NC_000006.12:g.100026544_100026554dup, NC_000006.12:g.100026543_100026554dup, NC_000006.12:g.100026542_100026554dup, NC_000006.12:g.100026541_100026554dup, NC_000006.12:g.100026540_100026554dup, NC_000006.12:g.100026539_100026554dup, NC_000006.12:g.100026538_100026554dup, NC_000006.12:g.100026537_100026554dup, NC_000006.12:g.100026536_100026554dup, NC_000006.12:g.100026535_100026554dup, NC_000006.12:g.100026534_100026554dup, NC_000006.12:g.100026533_100026554dup, NC_000006.12:g.100026531_100026554dup, NC_000006.12:g.100026528_100026554dup, NC_000006.12:g.100026554_100026555insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.100474416_100474430del, NC_000006.11:g.100474417_100474430del, NC_000006.11:g.100474418_100474430del, NC_000006.11:g.100474419_100474430del, NC_000006.11:g.100474420_100474430del, NC_000006.11:g.100474421_100474430del, NC_000006.11:g.100474422_100474430del, NC_000006.11:g.100474423_100474430del, NC_000006.11:g.100474424_100474430del, NC_000006.11:g.100474425_100474430del, NC_000006.11:g.100474426_100474430del, NC_000006.11:g.100474427_100474430del, NC_000006.11:g.100474428_100474430del, NC_000006.11:g.100474429_100474430del, NC_000006.11:g.100474430del, NC_000006.11:g.100474430dup, NC_000006.11:g.100474429_100474430dup, NC_000006.11:g.100474428_100474430dup, NC_000006.11:g.100474427_100474430dup, NC_000006.11:g.100474426_100474430dup, NC_000006.11:g.100474425_100474430dup, NC_000006.11:g.100474424_100474430dup, NC_000006.11:g.100474423_100474430dup, NC_000006.11:g.100474422_100474430dup, NC_000006.11:g.100474421_100474430dup, NC_000006.11:g.100474420_100474430dup, NC_000006.11:g.100474419_100474430dup, NC_000006.11:g.100474418_100474430dup, NC_000006.11:g.100474417_100474430dup, NC_000006.11:g.100474416_100474430dup, NC_000006.11:g.100474415_100474430dup, NC_000006.11:g.100474414_100474430dup, NC_000006.11:g.100474413_100474430dup, NC_000006.11:g.100474412_100474430dup, NC_000006.11:g.100474411_100474430dup, NC_000006.11:g.100474410_100474430dup, NC_000006.11:g.100474409_100474430dup, NC_000006.11:g.100474407_100474430dup, NC_000006.11:g.100474404_100474430dup, NC_000006.11:g.100474430_100474431insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491331844 has merged into rs1274943086 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 6:100070377
(GRCh38)
6:100518253
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100070376:TTTTTT:TTTTT,NC_000006.12:100070376:TTTTTT:TTTTTTT
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.000036/5
(GnomAD)
- HGVS:
4.
rs1491111824 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 6:100041808
(GRCh38)
6:100489684
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100041807:CA:
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00211/25
(
ALFA)
-=0.00182/49
(TOMMO)
- HGVS:
5.
rs1491075585 has merged into rs71024687 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:100068861
(GRCh38)
6:100516737
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100068852:TTTTTTTTTT:TTTTTTTT,NC_000006.12:100068852:TTTTTTTTTT:TTTTTTTTT,NC_000006.12:100068852:TTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:100068852:TTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:100068852:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:100068852:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0.0029/15
(
ALFA)
T=0.4463/1516
(1000Genomes)
- HGVS:
NC_000006.12:g.100068861_100068862del, NC_000006.12:g.100068862del, NC_000006.12:g.100068862dup, NC_000006.12:g.100068861_100068862dup, NC_000006.12:g.100068860_100068862dup, NC_000006.12:g.100068853_100068862dup, NC_000006.11:g.100516737_100516738del, NC_000006.11:g.100516738del, NC_000006.11:g.100516738dup, NC_000006.11:g.100516737_100516738dup, NC_000006.11:g.100516736_100516738dup, NC_000006.11:g.100516729_100516738dup
6.
rs1491043934 has merged into rs57938157 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:100040744
(GRCh38)
6:100488620
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:100040732:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.100040744_100040758del, NC_000006.12:g.100040745_100040758del, NC_000006.12:g.100040746_100040758del, NC_000006.12:g.100040748_100040758del, NC_000006.12:g.100040749_100040758del, NC_000006.12:g.100040750_100040758del, NC_000006.12:g.100040751_100040758del, NC_000006.12:g.100040752_100040758del, NC_000006.12:g.100040753_100040758del, NC_000006.12:g.100040754_100040758del, NC_000006.12:g.100040755_100040758del, NC_000006.12:g.100040756_100040758del, NC_000006.12:g.100040757_100040758del, NC_000006.12:g.100040758del, NC_000006.12:g.100040758dup, NC_000006.12:g.100040757_100040758dup, NC_000006.12:g.100040756_100040758dup, NC_000006.12:g.100040755_100040758dup, NC_000006.12:g.100040753_100040758dup, NC_000006.12:g.100040751_100040758dup, NC_000006.12:g.100040750_100040758dup, NC_000006.11:g.100488620_100488634del, NC_000006.11:g.100488621_100488634del, NC_000006.11:g.100488622_100488634del, NC_000006.11:g.100488624_100488634del, NC_000006.11:g.100488625_100488634del, NC_000006.11:g.100488626_100488634del, NC_000006.11:g.100488627_100488634del, NC_000006.11:g.100488628_100488634del, NC_000006.11:g.100488629_100488634del, NC_000006.11:g.100488630_100488634del, NC_000006.11:g.100488631_100488634del, NC_000006.11:g.100488632_100488634del, NC_000006.11:g.100488633_100488634del, NC_000006.11:g.100488634del, NC_000006.11:g.100488634dup, NC_000006.11:g.100488633_100488634dup, NC_000006.11:g.100488632_100488634dup, NC_000006.11:g.100488631_100488634dup, NC_000006.11:g.100488629_100488634dup, NC_000006.11:g.100488627_100488634dup, NC_000006.11:g.100488626_100488634dup
7.
rs1491014809 has merged into rs5878618 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:100058977
(GRCh38)
6:100506853
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:100058966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.1917/960
(1000Genomes)
-=0.375/3
(KOREAN)
- HGVS:
NC_000006.12:g.100058977_100058984del, NC_000006.12:g.100058978_100058984del, NC_000006.12:g.100058979_100058984del, NC_000006.12:g.100058981_100058984del, NC_000006.12:g.100058982_100058984del, NC_000006.12:g.100058983_100058984del, NC_000006.12:g.100058984del, NC_000006.12:g.100058984dup, NC_000006.12:g.100058983_100058984dup, NC_000006.12:g.100058982_100058984dup, NC_000006.12:g.100058981_100058984dup, NC_000006.12:g.100058980_100058984dup, NC_000006.12:g.100058979_100058984dup, NC_000006.12:g.100058978_100058984dup, NC_000006.12:g.100058977_100058984dup, NC_000006.12:g.100058976_100058984dup, NC_000006.12:g.100058975_100058984dup, NC_000006.12:g.100058974_100058984dup, NC_000006.11:g.100506853_100506860del, NC_000006.11:g.100506854_100506860del, NC_000006.11:g.100506855_100506860del, NC_000006.11:g.100506857_100506860del, NC_000006.11:g.100506858_100506860del, NC_000006.11:g.100506859_100506860del, NC_000006.11:g.100506860del, NC_000006.11:g.100506860dup, NC_000006.11:g.100506859_100506860dup, NC_000006.11:g.100506858_100506860dup, NC_000006.11:g.100506857_100506860dup, NC_000006.11:g.100506856_100506860dup, NC_000006.11:g.100506855_100506860dup, NC_000006.11:g.100506854_100506860dup, NC_000006.11:g.100506853_100506860dup, NC_000006.11:g.100506852_100506860dup, NC_000006.11:g.100506851_100506860dup, NC_000006.11:g.100506850_100506860dup
8.
rs1490883515 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAA>-
[Show Flanks]
- Chromosome:
- 6:100018771
(GRCh38)
6:100466647
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100018766:AGAAGAA:AGAA
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
9.
rs1490875699 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 6:100019767
(GRCh38)
6:100467644
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100019767::G
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490856249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:100019859
(GRCh38)
6:100467735
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100019858:T:G
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490851820 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:100051243
(GRCh38)
6:100499119
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100051242:T:G
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000078/11
(GnomAD)
G=0.000106/28
(TOPMED)
G=0.000342/1
(KOREAN)
G=0.001203/20
(TOMMO)
- HGVS:
12.
rs1490845396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 6:100032780
(GRCh38)
6:100480656
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100032779:T:A,NC_000006.12:100032779:T:C
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
13.
rs1490751893 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:99994506
(GRCh38)
6:100442382
(GRCh37)
- Canonical SPDI:
- NC_000006.12:99994505:T:G
- Gene:
- MCHR2 (Varview), MCHR2-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490737330 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:100068817
(GRCh38)
6:100516693
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100068816:A:G
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000098/26
(TOPMED)
G=0.000101/14
(GnomAD)
- HGVS:
16.
rs1490654750 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:99999595
(GRCh38)
6:100447471
(GRCh37)
- Canonical SPDI:
- NC_000006.12:99999594:T:G
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000026/7
(TOPMED)
G=0.00005/7
(GnomAD)
- HGVS:
17.
rs1490618091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:100027312
(GRCh38)
6:100475188
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100027311:A:G
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490601162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:100035000
(GRCh38)
6:100482876
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100034999:G:C
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000054/1
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000029/4
(GnomAD)
C=0.000223/1
(Estonian)
C=0.001667/1
(NorthernSweden)
- HGVS:
19.
rs1490600530 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:100026575
(GRCh38)
6:100474451
(GRCh37)
- Canonical SPDI:
- NC_000006.12:100026574:C:T
- Gene:
- MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000009/1
(GnomAD)
- HGVS:
20.
rs1490587308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:99993998
(GRCh38)
6:100441874
(GRCh37)
- Canonical SPDI:
- NC_000006.12:99993997:G:A
- Gene:
- MCHR2 (Varview), MCHR2-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: