SNP Links for Nucleotide (Select 511630718) - SNP

Links from Nucleotide

Items: 1 to 20 of 205

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Select item 14898907031.

rs1489890703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:228164095 (GRCh38)
1:228351796 (GRCh37)
Canonical SPDI:: NC_000001.11:228164094:G:C
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.228164095G>C, NC_000001.10:g.228351796G>C, NG_042231.1:g.3288G>C, NR_103539.1:n.593C>G, NR_103540.1:n.437C>G

Select item 14882867272.

rs1488286727 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 1:228164704 (GRCh38)
1:228352405 (GRCh37)
Canonical SPDI:: NC_000001.11:228164703:A:
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.228164704del, NC_000001.10:g.228352405del, NG_042231.1:g.3897del, XR_007066913.1:n.2815del, NR_103539.1:n.145del

Select item 14881306153.

rs1488130615 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:228164484 (GRCh38)
1:228352185 (GRCh37)
Canonical SPDI:: NC_000001.11:228164481:TGTG:TG
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.228164482TG[1], NC_000001.10:g.228352183TG[1], NG_042231.1:g.3675TG[1], XR_007066913.1:n.2593TG[1], NR_103539.1:n.203CA[1], NR_103540.1:n.47CA[1]

Select item 14767320344.

rs1476732034 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:228164453 (GRCh38)
1:228352154 (GRCh37)
Canonical SPDI:: NC_000001.11:228164452:A:T
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.228164453A>T, NC_000001.10:g.228352154A>T, NG_042231.1:g.3646A>T, XR_007066913.1:n.2564A>T, NR_103539.1:n.235T>A, NR_103540.1:n.79T>A

Select item 14761360805.

rs1476136080 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:228164270 (GRCh38)
1:228351971 (GRCh37)
Canonical SPDI:: NC_000001.11:228164269:G:A
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.228164270G>A, NC_000001.10:g.228351971G>A, NG_042231.1:g.3463G>A, XR_007066913.1:n.2381G>A, NR_103539.1:n.418C>T, NR_103540.1:n.262C>T

Select item 14715528486.

rs1471552848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:228164689 (GRCh38)
1:228352390 (GRCh37)
Canonical SPDI:: NC_000001.11:228164688:C:A
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.228164689C>A, NC_000001.10:g.228352390C>A, NG_042231.1:g.3882C>A, XR_007066913.1:n.2800C>A, NR_103539.1:n.160G>T

Select item 14688247287.

rs1468824728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:228164415 (GRCh38)
1:228352116 (GRCh37)
Canonical SPDI:: NC_000001.11:228164414:C:G,NC_000001.11:228164414:C:T
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.228164415C>G, NC_000001.11:g.228164415C>T, NC_000001.10:g.228352116C>G, NC_000001.10:g.228352116C>T, NG_042231.1:g.3608C>G, NG_042231.1:g.3608C>T, XR_007066913.1:n.2526C>G, XR_007066913.1:n.2526C>T, NR_103539.1:n.273G>C, NR_103539.1:n.273G>A, NR_103540.1:n.117G>C, NR_103540.1:n.117G>A

Select item 14666385988.

rs1466638598 has merged into rs894616117 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 1:228164814 (GRCh38)
1:228352515 (GRCh37)
Canonical SPDI:: NC_000001.11:228164813:AAAAAAA:AAAAAA,NC_000001.11:228164813:AAAAAAA:AAAAAAAA
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.228164820del, NC_000001.11:g.228164820dup, NC_000001.10:g.228352521del, NC_000001.10:g.228352521dup, NG_042231.1:g.4013del, NG_042231.1:g.4013dup, XR_007066913.1:n.2931del, XR_007066913.1:n.2931dup, NR_103539.1:n.35del, NR_103539.1:n.35dup

Select item 14531721089.

rs1453172108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:228164225 (GRCh38)
1:228351926 (GRCh37)
Canonical SPDI:: NC_000001.11:228164224:G:T
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.228164225G>T, NC_000001.10:g.228351926G>T, NG_042231.1:g.3418G>T, XR_007066913.1:n.2336G>T, NR_103539.1:n.463C>A, NR_103540.1:n.307C>A

Select item 145215488710.

rs1452154887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:228164301 (GRCh38)
1:228352002 (GRCh37)
Canonical SPDI:: NC_000001.11:228164300:G:C
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.228164301G>C, NC_000001.10:g.228352002G>C, NG_042231.1:g.3494G>C, XR_007066913.1:n.2412G>C, NR_103539.1:n.387C>G, NR_103540.1:n.231C>G

Select item 144821466011.

rs1448214660 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 1:228164334 (GRCh38)
1:228352035 (GRCh37)
Canonical SPDI:: NC_000001.11:228164331:GGGG:GG
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.228164334_228164335del, NC_000001.10:g.228352035_228352036del, NG_042231.1:g.3527_3528del, XR_007066913.1:n.2445_2446del, NR_103539.1:n.355_356del, NR_103540.1:n.199_200del

Select item 144008231512.

rs1440082315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:228164182 (GRCh38)
1:228351883 (GRCh37)
Canonical SPDI:: NC_000001.11:228164181:C:G,NC_000001.11:228164181:C:T
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00002/3 (GnomAD_exomes)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.228164182C>G, NC_000001.11:g.228164182C>T, NC_000001.10:g.228351883C>G, NC_000001.10:g.228351883C>T, NG_042231.1:g.3375C>G, NG_042231.1:g.3375C>T, XR_007066913.1:n.2293C>G, XR_007066913.1:n.2293C>T, NR_103539.1:n.506G>C, NR_103539.1:n.506G>A, NR_103540.1:n.350G>C, NR_103540.1:n.350G>A

Select item 143263309713.

rs1432633097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:228164774 (GRCh38)
1:228352475 (GRCh37)
Canonical SPDI:: NC_000001.11:228164773:C:T
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.228164774C>T, NC_000001.10:g.228352475C>T, NG_042231.1:g.3967C>T, XR_007066913.1:n.2885C>T, NR_103539.1:n.75G>A

Select item 143231592814.

rs1432315928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:228164404 (GRCh38)
1:228352105 (GRCh37)
Canonical SPDI:: NC_000001.11:228164403:A:G
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.228164404A>G, NC_000001.10:g.228352105A>G, NG_042231.1:g.3597A>G, XR_007066913.1:n.2515A>G, NR_103539.1:n.284T>C, NR_103540.1:n.128T>C

Select item 143162880915.

rs1431628809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:228164260 (GRCh38)
1:228351961 (GRCh37)
Canonical SPDI:: NC_000001.11:228164259:T:C
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,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:: NC_000001.11:g.228164260T>C, NC_000001.10:g.228351961T>C, NG_042231.1:g.3453T>C, XR_007066913.1:n.2371T>C, NR_103539.1:n.428A>G, NR_103540.1:n.272A>G

Select item 142500735016.

rs1425007350 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:228164449 (GRCh38)
1:228352150 (GRCh37)
Canonical SPDI:: NC_000001.11:228164448:T:C
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.228164449T>C, NC_000001.10:g.228352150T>C, NG_042231.1:g.3642T>C, XR_007066913.1:n.2560T>C, NR_103539.1:n.239A>G, NR_103540.1:n.83A>G

Select item 142335625217.

rs1423356252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:228164777 (GRCh38)
1:228352478 (GRCh37)
Canonical SPDI:: NC_000001.11:228164776:G:A
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.228164777G>A, NC_000001.10:g.228352478G>A, NG_042231.1:g.3970G>A, XR_007066913.1:n.2888G>A, NR_103539.1:n.72C>T

Select item 142007973618.

rs1420079736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:228164202 (GRCh38)
1:228351903 (GRCh37)
Canonical SPDI:: NC_000001.11:228164201:A:T
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.228164202A>T, NC_000001.10:g.228351903A>T, NG_042231.1:g.3395A>T, XR_007066913.1:n.2313A>T, NR_103539.1:n.486T>A, NR_103540.1:n.330T>A

Select item 141818561019.

rs1418185610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:228164130 (GRCh38)
1:228351831 (GRCh37)
Canonical SPDI:: NC_000001.11:228164129:G:A,NC_000001.11:228164129:G:C
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.228164130G>A, NC_000001.11:g.228164130G>C, NC_000001.10:g.228351831G>A, NC_000001.10:g.228351831G>C, NG_042231.1:g.3323G>A, NG_042231.1:g.3323G>C, NR_103539.1:n.558C>T, NR_103539.1:n.558C>G, NR_103540.1:n.402C>T, NR_103540.1:n.402C>G

Select item 141177051020.

rs1411770510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:228164329 (GRCh38)
1:228352030 (GRCh37)
Canonical SPDI:: NC_000001.11:228164328:G:A
Gene:: IBA57 (Varview), IBA57-DT (Varview), LOC124904534 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.228164329G>A, NC_000001.10:g.228352030G>A, NG_042231.1:g.3522G>A, XR_007066913.1:n.2440G>A, NR_103539.1:n.359C>T, NR_103540.1:n.203C>T

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