Links from Nucleotide
Items: 1 to 20 of 8766
2.
rs1491491380 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 8:81691149
(GRCh38)
8:82603385
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81691149::G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00674/80
(
ALFA)
G=0.01724/1111
(GnomAD)
- HGVS:
3.
rs1491437681 has merged into rs762180996 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 8:81691160
(GRCh38)
8:82603395
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81691148:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:81691148:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:81691148:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:81691148:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:81691148:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000008.11:g.81691160_81691162del, NC_000008.11:g.81691161_81691162del, NC_000008.11:g.81691162del, NC_000008.11:g.81691162dup, NC_000008.11:g.81691161_81691162dup, NC_000008.10:g.82603395_82603397del, NC_000008.10:g.82603396_82603397del, NC_000008.10:g.82603397del, NC_000008.10:g.82603397dup, NC_000008.10:g.82603396_82603397dup, NG_015829.1:g.204_206del, NG_015829.1:g.205_206del, NG_015829.1:g.206del, NG_015829.1:g.206dup, NG_015829.1:g.205_206dup
4.
rs1491385810 has merged into rs33975606 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:81666882
(GRCh38)
8:82579117
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IMPA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000008.11:g.81666882_81666896del, NC_000008.11:g.81666883_81666896del, NC_000008.11:g.81666884_81666896del, NC_000008.11:g.81666885_81666896del, NC_000008.11:g.81666886_81666896del, NC_000008.11:g.81666887_81666896del, NC_000008.11:g.81666888_81666896del, NC_000008.11:g.81666889_81666896del, NC_000008.11:g.81666890_81666896del, NC_000008.11:g.81666891_81666896del, NC_000008.11:g.81666892_81666896del, NC_000008.11:g.81666893_81666896del, NC_000008.11:g.81666894_81666896del, NC_000008.11:g.81666895_81666896del, NC_000008.11:g.81666896del, NC_000008.11:g.81666896dup, NC_000008.11:g.81666895_81666896dup, NC_000008.11:g.81666894_81666896dup, NC_000008.11:g.81666893_81666896dup, NC_000008.11:g.81666892_81666896dup, NC_000008.11:g.81666890_81666896dup, NC_000008.11:g.81666889_81666896dup, NC_000008.10:g.82579117_82579131del, NC_000008.10:g.82579118_82579131del, NC_000008.10:g.82579119_82579131del, NC_000008.10:g.82579120_82579131del, NC_000008.10:g.82579121_82579131del, NC_000008.10:g.82579122_82579131del, NC_000008.10:g.82579123_82579131del, NC_000008.10:g.82579124_82579131del, NC_000008.10:g.82579125_82579131del, NC_000008.10:g.82579126_82579131del, NC_000008.10:g.82579127_82579131del, NC_000008.10:g.82579128_82579131del, NC_000008.10:g.82579129_82579131del, NC_000008.10:g.82579130_82579131del, NC_000008.10:g.82579131del, NC_000008.10:g.82579131dup, NC_000008.10:g.82579130_82579131dup, NC_000008.10:g.82579129_82579131dup, NC_000008.10:g.82579128_82579131dup, NC_000008.10:g.82579127_82579131dup, NC_000008.10:g.82579125_82579131dup, NC_000008.10:g.82579124_82579131dup, NG_015829.1:g.24471_24485del, NG_015829.1:g.24472_24485del, NG_015829.1:g.24473_24485del, NG_015829.1:g.24474_24485del, NG_015829.1:g.24475_24485del, NG_015829.1:g.24476_24485del, NG_015829.1:g.24477_24485del, NG_015829.1:g.24478_24485del, NG_015829.1:g.24479_24485del, NG_015829.1:g.24480_24485del, NG_015829.1:g.24481_24485del, NG_015829.1:g.24482_24485del, NG_015829.1:g.24483_24485del, NG_015829.1:g.24484_24485del, NG_015829.1:g.24485del, NG_015829.1:g.24485dup, NG_015829.1:g.24484_24485dup, NG_015829.1:g.24483_24485dup, NG_015829.1:g.24482_24485dup, NG_015829.1:g.24481_24485dup, NG_015829.1:g.24479_24485dup, NG_015829.1:g.24478_24485dup
5.
rs1491374250 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGAT
[Show Flanks]
- Chromosome:
- 8:81687851
(GRCh38)
8:82600087
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81687851:GAT:GATGGAT
- Gene:
- IMPA1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GATGGAT=0.000337/4
(
ALFA)
GATG=0.000379/53
(GnomAD)
- HGVS:
6.
rs1491342702 has merged into rs1414411768 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-,AGAG
[Show Flanks]
- Chromosome:
- 8:81688693
(GRCh38)
8:82600928
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81688690:AGAG:AG,NC_000008.11:81688690:AGAG:AGAGAG
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000156/1
(1000Genomes)
- HGVS:
8.
rs1491276932 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 8:81687852
(GRCh38)
8:82600087
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81687850:AGA:A
- Gene:
- IMPA1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
9.
rs1491204317 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 8:81666869
(GRCh38)
8:82579104
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81666868:CA:
- Gene:
- IMPA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.0011/13
(
ALFA)
-=0.00038/10
(TOMMO)
- HGVS:
10.
rs1491201747 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 8:81684266
(GRCh38)
8:82596501
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81684265:GT:
- Gene:
- IMPA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000008/1
(GnomAD)
- HGVS:
12.
rs1491128153 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTA
[Show Flanks]
- Chromosome:
- 8:81685070
(GRCh38)
8:82597306
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81685070:TA:TACTA
- Gene:
- IMPA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TACTA=0.000422/5
(
ALFA)
TAC=0./0
(GnomAD)
- HGVS:
13.
rs1491098046 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 8:81685077
(GRCh38)
8:82597312
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81685069:ATATATATA:ATATATA
- Gene:
- IMPA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATATATA=0./0
(
ALFA)
-=0.000017/2
(GnomAD)
- HGVS:
15.
rs1490926337 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:81665958
(GRCh38)
8:82578193
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81665957:G:A
- Gene:
- IMPA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490752048 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATA>-
[Show Flanks]
- Chromosome:
- 8:81680881
(GRCh38)
8:82593116
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81680876:AATAATA:AATA
- Gene:
- IMPA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AATA=0.000071/1
(
ALFA)
-=0.000026/7
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS:
17.
rs1490720626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:81657683
(GRCh38)
8:82569918
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81657682:A:G
- Gene:
- IMPA1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490579767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:81672414
(GRCh38)
8:82584649
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81672413:A:G
- Gene:
- IMPA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490491642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 8:81664922
(GRCh38)
8:82577157
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81664921:A:C
- Gene:
- IMPA1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000216/4
(
ALFA)
C=0.00006/16
(TOPMED)
C=0.000071/10
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
20.
rs1490469777 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTCA>-
[Show Flanks]
- Chromosome:
- 8:81686579
(GRCh38)
8:82598814
(GRCh37)
- Canonical SPDI:
- NC_000008.11:81686572:CATTCATTCA:CATTCA
- Gene:
- IMPA1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CATTCA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
-=0.000156/1
(1000Genomes)
- HGVS: