Links from Nucleotide
Items: 1 to 20 of 4378
1.
rs1491050643 has merged into rs57056816 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:68654814
(GRCh38)
2:68881946
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:68654806:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- PROKR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
A=0.4936/2472
(1000Genomes)
- HGVS:
NC_000002.12:g.68654814_68654823del, NC_000002.12:g.68654817_68654823del, NC_000002.12:g.68654818_68654823del, NC_000002.12:g.68654819_68654823del, NC_000002.12:g.68654820_68654823del, NC_000002.12:g.68654821_68654823del, NC_000002.12:g.68654822_68654823del, NC_000002.12:g.68654823del, NC_000002.12:g.68654823dup, NC_000002.12:g.68654822_68654823dup, NC_000002.12:g.68654821_68654823dup, NC_000002.12:g.68654820_68654823dup, NC_000002.11:g.68881946_68881955del, NC_000002.11:g.68881949_68881955del, NC_000002.11:g.68881950_68881955del, NC_000002.11:g.68881951_68881955del, NC_000002.11:g.68881952_68881955del, NC_000002.11:g.68881953_68881955del, NC_000002.11:g.68881954_68881955del, NC_000002.11:g.68881955del, NC_000002.11:g.68881955dup, NC_000002.11:g.68881954_68881955dup, NC_000002.11:g.68881953_68881955dup, NC_000002.11:g.68881952_68881955dup, NG_051312.1:g.16227_16236del, NG_051312.1:g.16230_16236del, NG_051312.1:g.16231_16236del, NG_051312.1:g.16232_16236del, NG_051312.1:g.16233_16236del, NG_051312.1:g.16234_16236del, NG_051312.1:g.16235_16236del, NG_051312.1:g.16236del, NG_051312.1:g.16236dup, NG_051312.1:g.16235_16236dup, NG_051312.1:g.16234_16236dup, NG_051312.1:g.16233_16236dup
2.
rs1491028162 has merged into rs762938622 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 2:68653437
(GRCh38)
2:68880569
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68653435:ATA:A,NC_000002.12:68653435:ATA:ATATA
- Gene:
- PROKR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
AT=0.12766/492
(ALSPAC)
AT=0.13376/496
(TWINSUK)
- HGVS:
3.
rs1490833526 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:68655792
(GRCh38)
2:68882924
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68655791:G:A
- Gene:
- PROKR1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
4.
rs1490765069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:68641450
(GRCh38)
2:68868582
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68641449:T:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
5.
rs1490582707 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:68654329
(GRCh38)
2:68881461
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68654328:C:G
- Gene:
- PROKR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00092/15
(TOMMO)
- HGVS:
6.
rs1490565525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:68640457
(GRCh38)
2:68867589
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68640456:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490494351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:68643514
(GRCh38)
2:68870646
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68643513:C:T
- Gene:
- PROKR1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490371861 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:68647760
(GRCh38)
2:68874892
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68647759:C:T
- Gene:
- PROKR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490368012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:68647664
(GRCh38)
2:68874796
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68647663:C:T
- Gene:
- PROKR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
10.
rs1489884695 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:68657238
(GRCh38)
2:68884370
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68657237:A:G
- Gene:
- PROKR1 (Varview)
- Functional Consequence:
- 3_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:
11.
rs1489730950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:68647134
(GRCh38)
2:68874266
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68647133:G:A,NC_000002.12:68647133:G:C
- Gene:
- PROKR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489664694 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:68646906
(GRCh38)
2:68874038
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68646905:A:G
- Gene:
- PROKR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1489455250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:68654004
(GRCh38)
2:68881136
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68654003:G:A
- Gene:
- PROKR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
14.
rs1489421687 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:68642414
(GRCh38)
2:68869546
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68642413:A:G
- Gene:
- PROKR1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
15.
rs1489356616 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:68654792
(GRCh38)
2:68881924
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68654791:G:A
- Gene:
- PROKR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000008/1
(GnomAD)
A=0.000071/1
(TOMMO)
- HGVS:
16.
rs1489239667 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:68645494
(GRCh38)
2:68872626
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68645493:A:T
- Gene:
- PROKR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489204157 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:68643334
(GRCh38)
2:68870466
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68643333:G:A
- Gene:
- PROKR1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1488987211 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAG>-
[Show Flanks]
- Chromosome:
- 2:68646824
(GRCh38)
2:68873956
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68646818:AGGAGGAG:AGGAG
- Gene:
- PROKR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGGAG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
19.
rs1488443217 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:68651513
(GRCh38)
2:68878645
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68651512:A:G
- Gene:
- PROKR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1488284505 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:68640312
(GRCh38)
2:68867444
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68640311: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: