SNP Links for Nucleotide (Select 460417323) - SNP

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Links from Nucleotide

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Select item 14895196201.

rs1489519620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113958092 (GRCh38)
2:114715669 (GRCh37)
Canonical SPDI:: NC_000002.12:113958091:C:T
Gene:: ACTR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.113958092C>T, NC_000002.11:g.114715669C>T, NM_005721.5:c.*637C>T, NM_005721.4:c.*637C>T, NR_102318.1:n.2115C>T, NM_001277140.1:c.*637C>T

Select item 14894326152.

rs1489432615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113961181 (GRCh38)
2:114718758 (GRCh37)
Canonical SPDI:: NC_000002.12:113961180:A:G
Gene:: ACTR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
HGVS:: NC_000002.12:g.113961181A>G, NC_000002.11:g.114718758A>G, NM_005721.5:c.*3726A>G, NM_005721.4:c.*3726A>G, NR_102318.1:n.5204A>G, NM_001277140.1:c.*3726A>G

Select item 14887512593.

rs1488751259 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 2:113890155 (GRCh38)
2:114647732 (GRCh37)
Canonical SPDI:: NC_000002.12:113890154:CCCCCC:CCCCC,NC_000002.12:113890154:CCCCCC:CCCCCCC
Gene:: ACTR3 (Varview), ACTR3-AS1 (Varview), LOC124906071 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113890160del, NC_000002.12:g.113890160dup, NC_000002.11:g.114647737del, NC_000002.11:g.114647737dup, NM_005721.5:c.-120del, NM_005721.5:c.-120dup, NM_005721.4:c.-120del, NM_005721.4:c.-120dup, NR_102318.1:n.227del, NR_102318.1:n.227dup

Select item 14886366014.

rs1488636601 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:113958525 (GRCh38)
2:114716102 (GRCh37)
Canonical SPDI:: NC_000002.12:113958524:T:C
Gene:: ACTR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113958525T>C, NC_000002.11:g.114716102T>C, NM_005721.5:c.*1070T>C, NM_005721.4:c.*1070T>C, NR_102318.1:n.2548T>C, NM_001277140.1:c.*1070T>C

Select item 14883681025.

rs1488368102 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113961381 (GRCh38)
2:114718958 (GRCh37)
Canonical SPDI:: NC_000002.12:113961380:C:T
Gene:: ACTR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000022/3 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.113961381C>T, NC_000002.11:g.114718958C>T, NM_005721.5:c.*3926C>T, NM_005721.4:c.*3926C>T, NR_102318.1:n.5404C>T, NM_001277140.1:c.*3926C>T

Select item 14883623986.

rs1488362398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:113961297 (GRCh38)
2:114718874 (GRCh37)
Canonical SPDI:: NC_000002.12:113961296:G:A,NC_000002.12:113961296:G:T
Gene:: ACTR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113961297G>A, NC_000002.12:g.113961297G>T, NC_000002.11:g.114718874G>A, NC_000002.11:g.114718874G>T, NM_005721.5:c.*3842G>A, NM_005721.5:c.*3842G>T, NM_005721.4:c.*3842G>A, NM_005721.4:c.*3842G>T, NR_102318.1:n.5320G>A, NR_102318.1:n.5320G>T, NM_001277140.1:c.*3842G>A, NM_001277140.1:c.*3842G>T

Select item 14877390227.

rs1487739022 has merged into rs890205623 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 2:113957858 (GRCh38)
2:114715435 (GRCh37)
Canonical SPDI:: NC_000002.12:113957857:AAAAAAA:AAAAAA,NC_000002.12:113957857:AAAAAAA:AAAAAAAA
Gene:: ACTR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.113957864del, NC_000002.12:g.113957864dup, NC_000002.11:g.114715441del, NC_000002.11:g.114715441dup, NM_005721.5:c.*409del, NM_005721.5:c.*409dup, NM_005721.4:c.*409del, NM_005721.4:c.*409dup, NR_102318.1:n.1887del, NR_102318.1:n.1887dup, NM_001277140.1:c.*409del, NM_001277140.1:c.*409dup

Select item 14877008078.

rs1487700807 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:113959089 (GRCh38)
2:114716666 (GRCh37)
Canonical SPDI:: NC_000002.12:113959088:T:C
Gene:: ACTR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.113959089T>C, NC_000002.11:g.114716666T>C, NM_005721.5:c.*1634T>C, NM_005721.4:c.*1634T>C, NR_102318.1:n.3112T>C, NM_001277140.1:c.*1634T>C

Select item 14864238389.

rs1486423838 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 2:113961392 (GRCh38)
2:114718969 (GRCh37)
Canonical SPDI:: NC_000002.12:113961391:C:
Gene:: ACTR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113961392del, NC_000002.11:g.114718969del, NM_005721.5:c.*3937del, NM_005721.4:c.*3937del, NR_102318.1:n.5415del, NM_001277140.1:c.*3937del

Select item 148639363710.

rs1486393637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113960281 (GRCh38)
2:114717858 (GRCh37)
Canonical SPDI:: NC_000002.12:113960280:C:T
Gene:: ACTR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.113960281C>T, NC_000002.11:g.114717858C>T, NM_005721.5:c.*2826C>T, NM_005721.4:c.*2826C>T, NR_102318.1:n.4304C>T, NM_001277140.1:c.*2826C>T

Select item 148612124811.

rs1486121248 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113960274 (GRCh38)
2:114717851 (GRCh37)
Canonical SPDI:: NC_000002.12:113960273:A:G
Gene:: ACTR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.113960274A>G, NC_000002.11:g.114717851A>G, NM_005721.5:c.*2819A>G, NM_005721.4:c.*2819A>G, NR_102318.1:n.4297A>G, NM_001277140.1:c.*2819A>G

Select item 148581547112.

rs1485815471 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:113940012 (GRCh38)
2:114697589 (GRCh37)
Canonical SPDI:: NC_000002.12:113940011:A:T
Gene:: ACTR3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.113940012A>T, NC_000002.11:g.114697589A>T, NM_005721.5:c.594A>T, NM_005721.4:c.594A>T, NR_102318.1:n.815A>T, NM_001277140.1:c.441A>T

Select item 148542948013.

rs1485429480 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:113960863 (GRCh38)
2:114718440 (GRCh37)
Canonical SPDI:: NC_000002.12:113960862:A:T
Gene:: ACTR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00034/1 (KOREAN)
HGVS:: NC_000002.12:g.113960863A>T, NC_000002.11:g.114718440A>T, NM_005721.5:c.*3408A>T, NM_005721.4:c.*3408A>T, NR_102318.1:n.4886A>T, NM_001277140.1:c.*3408A>T

Select item 148468631614.

rs1484686316 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:113958366 (GRCh38)
2:114715944 (GRCh37)
Canonical SPDI:: NC_000002.12:113958366:T:TT
Gene:: ACTR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.113958367dup, NC_000002.11:g.114715944dup, NM_005721.5:c.*912dup, NM_005721.4:c.*912dup, NR_102318.1:n.2390dup, NM_001277140.1:c.*912dup

Select item 148413106215.

rs1484131062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:113958240 (GRCh38)
2:114715817 (GRCh37)
Canonical SPDI:: NC_000002.12:113958239:G:T
Gene:: ACTR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_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:: NC_000002.12:g.113958240G>T, NC_000002.11:g.114715817G>T, NM_005721.5:c.*785G>T, NM_005721.4:c.*785G>T, NR_102318.1:n.2263G>T, NM_001277140.1:c.*785G>T

Select item 148370200216.

rs1483702002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113957912 (GRCh38)
2:114715489 (GRCh37)
Canonical SPDI:: NC_000002.12:113957911:G:A
Gene:: ACTR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113957912G>A, NC_000002.11:g.114715489G>A, NM_005721.5:c.*457G>A, NM_005721.4:c.*457G>A, NR_102318.1:n.1935G>A, NM_001277140.1:c.*457G>A

Select item 148367292717.

rs1483672927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113960501 (GRCh38)
2:114718078 (GRCh37)
Canonical SPDI:: NC_000002.12:113960500:A:G
Gene:: ACTR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.113960501A>G, NC_000002.11:g.114718078A>G, NM_005721.5:c.*3046A>G, NM_005721.4:c.*3046A>G, NR_102318.1:n.4524A>G, NM_001277140.1:c.*3046A>G

Select item 148348216718.

rs1483482167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:113890247 (GRCh38)
2:114647824 (GRCh37)
Canonical SPDI:: NC_000002.12:113890246:C:G
Gene:: ACTR3 (Varview), ACTR3-AS1 (Varview), LOC124906071 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
HGVS:: NC_000002.12:g.113890247C>G, NC_000002.11:g.114647824C>G, NM_005721.5:c.-33C>G, NM_005721.4:c.-33C>G, NR_102318.1:n.314C>G

Select item 148340498019.

rs1483404980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113958912 (GRCh38)
2:114716489 (GRCh37)
Canonical SPDI:: NC_000002.12:113958911:G:A
Gene:: ACTR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.113958912G>A, NC_000002.11:g.114716489G>A, NM_005721.5:c.*1457G>A, NM_005721.4:c.*1457G>A, NR_102318.1:n.2935G>A, NM_001277140.1:c.*1457G>A

Select item 148302322120.

rs1483023221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:113958295 (GRCh38)
2:114715872 (GRCh37)
Canonical SPDI:: NC_000002.12:113958294:C:A
Gene:: ACTR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.113958295C>A, NC_000002.11:g.114715872C>A, NM_005721.5:c.*840C>A, NM_005721.4:c.*840C>A, NR_102318.1:n.2318C>A, NM_001277140.1:c.*840C>A