Links from Nucleotide
Items: 1 to 20 of 13812
1.
rs1491543257 has merged into rs869195749 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:230951770
(GRCh38)
2:231816485
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230951756:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:230951756:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:230951756:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:230951756:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:230951756:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:230951756:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:230951756:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:230951756:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230951756:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
- Gene:
- GPR55 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000002.12:g.230951770_230951774del, NC_000002.12:g.230951771_230951774del, NC_000002.12:g.230951772_230951774del, NC_000002.12:g.230951773_230951774del, NC_000002.12:g.230951774del, NC_000002.12:g.230951774dup, NC_000002.12:g.230951773_230951774dup, NC_000002.12:g.230951772_230951774dup, NC_000002.12:g.230951771_230951774dup, NC_000002.11:g.231816485_231816489del, NC_000002.11:g.231816486_231816489del, NC_000002.11:g.231816487_231816489del, NC_000002.11:g.231816488_231816489del, NC_000002.11:g.231816489del, NC_000002.11:g.231816489dup, NC_000002.11:g.231816488_231816489dup, NC_000002.11:g.231816487_231816489dup, NC_000002.11:g.231816486_231816489dup, NG_050956.1:g.14467_14471del, NG_050956.1:g.14468_14471del, NG_050956.1:g.14469_14471del, NG_050956.1:g.14470_14471del, NG_050956.1:g.14471del, NG_050956.1:g.14471dup, NG_050956.1:g.14470_14471dup, NG_050956.1:g.14469_14471dup, NG_050956.1:g.14468_14471dup
2.
rs1491532293 has merged into rs74270934 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:230956933
(GRCh38)
2:231821648
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230956921:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:230956921:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:230956921:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:230956921:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:230956921:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:230956921:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:230956921:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- GPR55 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.27023/1002
(TWINSUK)
T=0.2932/1130
(ALSPAC)
- HGVS:
NC_000002.12:g.230956933_230956934del, NC_000002.12:g.230956934del, NC_000002.12:g.230956934dup, NC_000002.12:g.230956933_230956934dup, NC_000002.12:g.230956932_230956934dup, NC_000002.12:g.230956931_230956934dup, NC_000002.12:g.230956928_230956934dup, NC_000002.11:g.231821648_231821649del, NC_000002.11:g.231821649del, NC_000002.11:g.231821649dup, NC_000002.11:g.231821648_231821649dup, NC_000002.11:g.231821647_231821649dup, NC_000002.11:g.231821646_231821649dup, NC_000002.11:g.231821643_231821649dup, NG_050956.1:g.9305_9306del, NG_050956.1:g.9306del, NG_050956.1:g.9306dup, NG_050956.1:g.9305_9306dup, NG_050956.1:g.9304_9306dup, NG_050956.1:g.9303_9306dup, NG_050956.1:g.9300_9306dup
3.
rs1491515635 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 2:230956922
(GRCh38)
2:231821638
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230956922::C
- Gene:
- GPR55 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00059/7
(
ALFA)
C=0.0008/50
(GnomAD)
- HGVS:
5.
rs1491460330 has merged into rs56203003 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT
[Show Flanks]
- Chromosome:
- 2:230951936
(GRCh38)
2:231816651
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230951925:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:230951925:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:230951925:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:230951925:TTTTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- GPR55 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0.0006/6
(
ALFA)
-=0.3/12
(GENOME_DK)
-=0.385/231
(NorthernSweden)
- HGVS:
NC_000002.12:g.230951936_230951938del, NC_000002.12:g.230951937_230951938del, NC_000002.12:g.230951938del, NC_000002.12:g.230951938dup, NC_000002.11:g.231816651_231816653del, NC_000002.11:g.231816652_231816653del, NC_000002.11:g.231816653del, NC_000002.11:g.231816653dup, NG_050956.1:g.14300_14302del, NG_050956.1:g.14301_14302del, NG_050956.1:g.14302del, NG_050956.1:g.14302dup
6.
rs1491408313 has merged into rs66962280 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:230938410
(GRCh38)
2:231803125
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230938397:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:230938397:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:230938397:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:230938397:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:230938397:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:230938397:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:230938397:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:230938397:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GPR55 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.35/14
(GENOME_DK)
- HGVS:
NC_000002.12:g.230938410_230938413del, NC_000002.12:g.230938411_230938413del, NC_000002.12:g.230938412_230938413del, NC_000002.12:g.230938413del, NC_000002.12:g.230938413dup, NC_000002.12:g.230938412_230938413dup, NC_000002.12:g.230938405_230938413dup, NC_000002.12:g.230938403_230938413dup, NC_000002.11:g.231803125_231803128del, NC_000002.11:g.231803126_231803128del, NC_000002.11:g.231803127_231803128del, NC_000002.11:g.231803128del, NC_000002.11:g.231803128dup, NC_000002.11:g.231803127_231803128dup, NC_000002.11:g.231803120_231803128dup, NC_000002.11:g.231803118_231803128dup, NG_050956.1:g.27827_27830del, NG_050956.1:g.27828_27830del, NG_050956.1:g.27829_27830del, NG_050956.1:g.27830del, NG_050956.1:g.27830dup, NG_050956.1:g.27829_27830dup, NG_050956.1:g.27822_27830dup, NG_050956.1:g.27820_27830dup
7.
rs1491289457 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:230938146
(GRCh38)
2:231802861
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230938145:CA:
- Gene:
- GPR55 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.00028/7
(TOMMO)
- HGVS:
8.
rs1491125216 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:230938397
(GRCh38)
2:231803112
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230938396:CA:
- Gene:
- GPR55 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00003/3
(GnomAD)
- HGVS:
9.
rs1490953229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:230911510
(GRCh38)
2:231776225
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230911509:A:G
- Gene:
- GPR55 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
12.
rs1490808865 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:230935409
(GRCh38)
2:231800124
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230935408:C:T
- Gene:
- GPR55 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000064/17
(TOPMED)
T=0.000156/1
(1000Genomes)
T=0.000342/1
(KOREAN)
T=0.000354/6
(TOMMO)
T=0.000546/1
(Korea1K)
- HGVS:
13.
rs1490767843 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 2:230954495
(GRCh38)
2:231819211
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230954495:T:TT
- Gene:
- GPR55 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
14.
rs1490696971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:230918482
(GRCh38)
2:231783197
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230918481:A:G
- Gene:
- GPR55 (Varview)
- Functional Consequence:
- 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:
15.
rs1490551517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:230963449
(GRCh38)
2:231828164
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230963448:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490528153 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:230948705
(GRCh38)
2:231813420
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230948704:C:T
- Gene:
- GPR55 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490500631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:230964053
(GRCh38)
2:231828768
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230964052:A:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490427353 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 2:230949797
(GRCh38)
2:231814512
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230949796:C:A,NC_000002.12:230949796:C:T
- Gene:
- GPR55 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
19.
rs1490425436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:230927495
(GRCh38)
2:231792210
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230927494:T:C
- Gene:
- GPR55 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490336991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:230918485
(GRCh38)
2:231783200
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230918484:C:T
- Gene:
- GPR55 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
T=0.000035/1
(TOMMO)
T=0.000546/1
(Korea1K)
- HGVS: