Links from Nucleotide
Items: 1 to 20 of 7658
1.
rs1491324216 has merged into rs3050627 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:52024838
(GRCh38)
4:52891004
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:52024827:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SGCB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.0057/3
(NorthernSweden)
- HGVS:
NC_000004.12:g.52024838_52024855del, NC_000004.12:g.52024839_52024855del, NC_000004.12:g.52024840_52024855del, NC_000004.12:g.52024841_52024855del, NC_000004.12:g.52024842_52024855del, NC_000004.12:g.52024843_52024855del, NC_000004.12:g.52024844_52024855del, NC_000004.12:g.52024845_52024855del, NC_000004.12:g.52024846_52024855del, NC_000004.12:g.52024847_52024855del, NC_000004.12:g.52024848_52024855del, NC_000004.12:g.52024849_52024855del, NC_000004.12:g.52024850_52024855del, NC_000004.12:g.52024851_52024855del, NC_000004.12:g.52024852_52024855del, NC_000004.12:g.52024853_52024855del, NC_000004.12:g.52024854_52024855del, NC_000004.12:g.52024855del, NC_000004.12:g.52024855dup, NC_000004.12:g.52024854_52024855dup, NC_000004.12:g.52024853_52024855dup, NC_000004.12:g.52024852_52024855dup, NC_000004.12:g.52024851_52024855dup, NC_000004.12:g.52024850_52024855dup, NC_000004.12:g.52024848_52024855dup, NC_000004.11:g.52891004_52891021del, NC_000004.11:g.52891005_52891021del, NC_000004.11:g.52891006_52891021del, NC_000004.11:g.52891007_52891021del, NC_000004.11:g.52891008_52891021del, NC_000004.11:g.52891009_52891021del, NC_000004.11:g.52891010_52891021del, NC_000004.11:g.52891011_52891021del, NC_000004.11:g.52891012_52891021del, NC_000004.11:g.52891013_52891021del, NC_000004.11:g.52891014_52891021del, NC_000004.11:g.52891015_52891021del, NC_000004.11:g.52891016_52891021del, NC_000004.11:g.52891017_52891021del, NC_000004.11:g.52891018_52891021del, NC_000004.11:g.52891019_52891021del, NC_000004.11:g.52891020_52891021del, NC_000004.11:g.52891021del, NC_000004.11:g.52891021dup, NC_000004.11:g.52891020_52891021dup, NC_000004.11:g.52891019_52891021dup, NC_000004.11:g.52891018_52891021dup, NC_000004.11:g.52891017_52891021dup, NC_000004.11:g.52891016_52891021dup, NC_000004.11:g.52891014_52891021dup, NG_053164.1:g.467_484del, NG_053164.1:g.468_484del, NG_053164.1:g.469_484del, NG_053164.1:g.470_484del, NG_053164.1:g.471_484del, NG_053164.1:g.472_484del, NG_053164.1:g.473_484del, NG_053164.1:g.474_484del, NG_053164.1:g.475_484del, NG_053164.1:g.476_484del, NG_053164.1:g.477_484del, NG_053164.1:g.478_484del, NG_053164.1:g.479_484del, NG_053164.1:g.480_484del, NG_053164.1:g.481_484del, NG_053164.1:g.482_484del, NG_053164.1:g.483_484del, NG_053164.1:g.484del, NG_053164.1:g.484dup, NG_053164.1:g.483_484dup, NG_053164.1:g.482_484dup, NG_053164.1:g.481_484dup, NG_053164.1:g.480_484dup, NG_053164.1:g.479_484dup, NG_053164.1:g.477_484dup, NG_008891.1:g.18475_18492del, NG_008891.1:g.18476_18492del, NG_008891.1:g.18477_18492del, NG_008891.1:g.18478_18492del, NG_008891.1:g.18479_18492del, NG_008891.1:g.18480_18492del, NG_008891.1:g.18481_18492del, NG_008891.1:g.18482_18492del, NG_008891.1:g.18483_18492del, NG_008891.1:g.18484_18492del, NG_008891.1:g.18485_18492del, NG_008891.1:g.18486_18492del, NG_008891.1:g.18487_18492del, NG_008891.1:g.18488_18492del, NG_008891.1:g.18489_18492del, NG_008891.1:g.18490_18492del, NG_008891.1:g.18491_18492del, NG_008891.1:g.18492del, NG_008891.1:g.18492dup, NG_008891.1:g.18491_18492dup, NG_008891.1:g.18490_18492dup, NG_008891.1:g.18489_18492dup, NG_008891.1:g.18488_18492dup, NG_008891.1:g.18487_18492dup, NG_008891.1:g.18485_18492dup
2.
rs1491036583 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 4:52005604
(GRCh38)
4:52871771
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52005604::C
- Gene:
- LRRC66 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.02564/2
(GnomAD)
- HGVS:
3.
rs1490887650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:52021766
(GRCh38)
4:52887932
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52021765:A:G
- Gene:
- SGCB (Varview), LRRC66 (Varview)
- Functional Consequence:
- upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490880204 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:52004636
(GRCh38)
4:52870802
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52004635:T:C
- Gene:
- LRRC66 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_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:
5.
rs1490785430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:52012155
(GRCh38)
4:52878321
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52012154:C:G
- Gene:
- LRRC66 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490485819 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:52003697
(GRCh38)
4:52869863
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52003696:G:T
- Gene:
- LRRC66 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490417059 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:52017239
(GRCh38)
4:52883405
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52017238:T:C
- Gene:
- LRRC66 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
8.
rs1490406665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:52019224
(GRCh38)
4:52885390
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52019223:G:T
- Gene:
- LRRC66 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490370240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:52024119
(GRCh38)
4:52890285
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52024118:G:C
- Gene:
- SGCB (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Clinical significance:
- likely-benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(GnomAD_exomes)
C=0.000036/5
(GnomAD)
C=0.000076/20
(TOPMED)
- HGVS:
10.
rs1490345904 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:52013855
(GRCh38)
4:52880021
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52013854:A:G
- Gene:
- LRRC66 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490275390 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:51997930
(GRCh38)
4:52864096
(GRCh37)
- Canonical SPDI:
- NC_000004.12:51997929:T:A
- Gene:
- LRRC66 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000004.12:g.51997930T>A, NC_000004.11:g.52864096T>A, NG_053164.1:g.27382A>T, NM_001024611.3:c.674A>T, NM_001024611.2:c.674A>T, NM_001024611.1:c.674A>T, XM_047415647.1:c.-35A>T, XM_047415644.1:c.830A>T, XM_047415646.1:c.-35A>T, NP_001019782.1:p.Asp225Val, XP_047271600.1:p.Asp277Val
12.
rs1490097586 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:52014192
(GRCh38)
4:52880358
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52014191:C:T
- Gene:
- LRRC66 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000043/6
(GnomAD)
T=0.000053/14
(TOPMED)
- HGVS:
13.
rs1489935147 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:52015289
(GRCh38)
4:52881455
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52015288:A:G
- Gene:
- LRRC66 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489705860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:52006570
(GRCh38)
4:52872736
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52006569:A:G
- Gene:
- LRRC66 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.0042/5
(
ALFA)
G=0.0695/203
(KOREAN)
- HGVS:
16.
rs1489663099 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:52022719
(GRCh38)
4:52888885
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52022718:C:A
- Gene:
- SGCB (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Clinical significance:
- uncertain-significance
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489537858 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:52019638
(GRCh38)
4:52885804
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52019637:T:G
- Gene:
- LRRC66 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489493431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:52010546
(GRCh38)
4:52876712
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52010545:G:T
- Gene:
- LRRC66 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
19.
rs1489443339 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:52020480
(GRCh38)
4:52886646
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52020479:C:T
- Gene:
- SGCB (Varview), LRRC66 (Varview)
- Functional Consequence:
- upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1489412733 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:52014493
(GRCh38)
4:52880659
(GRCh37)
- Canonical SPDI:
- NC_000004.12:52014492:C:A
- Gene:
- LRRC66 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS: