SNP Links for Nucleotide (Select 337299659) - SNP

Links from Nucleotide

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Select item 14866940341.

rs1486694034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111747132 (GRCh38)
1:112289754 (GRCh37)
Canonical SPDI:: NC_000001.11:111747131:C:T
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.111747132C>T, NC_000001.10:g.112289754C>T, NR_125963.1:n.952G>A, NR_038951.1:n.1465C>T, NR_038952.1:n.1310C>T

Select item 14862698362.

rs1486269836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:111740038 (GRCh38)
1:112282660 (GRCh37)
Canonical SPDI:: NC_000001.11:111740037:A:C,NC_000001.11:111740037:A:G
Gene:: INKA2 (Varview), INKA2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111740038A>C, NC_000001.11:g.111740038A>G, NC_000001.10:g.112282660A>C, NC_000001.10:g.112282660A>G, NR_038951.1:n.198A>C, NR_038951.1:n.198A>G, NR_038952.1:n.198A>C, NR_038952.1:n.198A>G

Select item 14859648933.

rs1485964893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111746200 (GRCh38)
1:112288822 (GRCh37)
Canonical SPDI:: NC_000001.11:111746199:C:T
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.111746200C>T, NC_000001.10:g.112288822C>T, NR_125963.1:n.1884G>A, NR_038951.1:n.533C>T, NR_038952.1:n.378C>T

Select item 14857167274.

rs1485716727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111746927 (GRCh38)
1:112289549 (GRCh37)
Canonical SPDI:: NC_000001.11:111746926:C:T
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.111746927C>T, NC_000001.10:g.112289549C>T, NR_125963.1:n.1157G>A, NR_038951.1:n.1260C>T, NR_038952.1:n.1105C>T

Select item 14853910175.

rs1485391017 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:111747504 (GRCh38)
1:112290126 (GRCh37)
Canonical SPDI:: NC_000001.11:111747503:T:C
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.111747504T>C, NC_000001.10:g.112290126T>C, NR_125963.1:n.580A>G, NR_038951.1:n.1837T>C, NR_038952.1:n.1682T>C

Select item 14813804956.

rs1481380495 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:111746821 (GRCh38)
1:112289443 (GRCh37)
Canonical SPDI:: NC_000001.11:111746820:T:A
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.111746821T>A, NC_000001.10:g.112289443T>A, NR_125963.1:n.1263A>T, NR_038951.1:n.1154T>A, NR_038952.1:n.999T>A

Select item 14786650477.

rs1478665047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:111747529 (GRCh38)
1:112290151 (GRCh37)
Canonical SPDI:: NC_000001.11:111747528:C:G,NC_000001.11:111747528:C:T
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.111747529C>G, NC_000001.11:g.111747529C>T, NC_000001.10:g.112290151C>G, NC_000001.10:g.112290151C>T, NR_125963.1:n.555G>C, NR_125963.1:n.555G>A, NR_038951.1:n.1862C>G, NR_038951.1:n.1862C>T, NR_038952.1:n.1707C>G, NR_038952.1:n.1707C>T

Select item 14764139908.

rs1476413990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111746549 (GRCh38)
1:112289171 (GRCh37)
Canonical SPDI:: NC_000001.11:111746548:C:T
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.111746549C>T, NC_000001.10:g.112289171C>T, NR_125963.1:n.1535G>A, NR_038951.1:n.882C>T, NR_038952.1:n.727C>T

Select item 14745739809.

rs1474573980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:111747158 (GRCh38)
1:112289780 (GRCh37)
Canonical SPDI:: NC_000001.11:111747157:C:A
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111747158C>A, NC_000001.10:g.112289780C>A, NR_125963.1:n.926G>T, NR_038951.1:n.1491C>A, NR_038952.1:n.1336C>A

Select item 147445272910.

rs1474452729 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:111747663 (GRCh38)
1:112290285 (GRCh37)
Canonical SPDI:: NC_000001.11:111747662:AG:
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.111747663_111747664del, NC_000001.10:g.112290285_112290286del, NR_125963.1:n.420_421del, NR_038951.1:n.1996_1997del, NR_038952.1:n.1841_1842del

Select item 147043011411.

rs1470430114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:111746334 (GRCh38)
1:112288956 (GRCh37)
Canonical SPDI:: NC_000001.11:111746333:A:G
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.111746334A>G, NC_000001.10:g.112288956A>G, NR_125963.1:n.1750T>C, NR_038951.1:n.667A>G, NR_038952.1:n.512A>G

Select item 146969987612.

rs1469699876 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:111746095 (GRCh38)
1:112288717 (GRCh37)
Canonical SPDI:: NC_000001.11:111746094:A:C,NC_000001.11:111746094:A:G
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.111746095A>C, NC_000001.11:g.111746095A>G, NC_000001.10:g.112288717A>C, NC_000001.10:g.112288717A>G, NR_125963.1:n.1989T>G, NR_125963.1:n.1989T>C, NR_038951.1:n.428A>C, NR_038951.1:n.428A>G, NR_038952.1:n.273A>C, NR_038952.1:n.273A>G

Select item 146963180113.

rs1469631801 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:111747235 (GRCh38)
1:112289858 (GRCh37)
Canonical SPDI:: NC_000001.11:111747235:TTTT:TTTTT
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111747239dup, NC_000001.10:g.112289861dup, NR_125963.1:n.848dup, NR_038951.1:n.1572dup, NR_038952.1:n.1417dup

Select item 146957608914.

rs1469576089 [Homo sapiens]

Variant type:: INS
Alleles:: ->TC [Show Flanks]
Chromosome:: 1:111746462 (GRCh38)
1:112289085 (GRCh37)
Canonical SPDI:: NC_000001.11:111746462::TC
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TC=0./0 (ALFA)
TC=0.000093/13 (GnomAD)
TC=0.000102/27 (TOPMED)
TC=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.111746462_111746463insTC, NC_000001.10:g.112289084_112289085insTC, NR_125963.1:n.1621_1622insGA, NR_038951.1:n.795_796insTC, NR_038952.1:n.640_641insTC

Select item 146719456515.

rs1467194565 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:111739996 (GRCh38)
1:112282618 (GRCh37)
Canonical SPDI:: NC_000001.11:111739995:G:A
Gene:: INKA2 (Varview), INKA2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.111739996G>A, NC_000001.10:g.112282618G>A, NR_038951.1:n.156G>A, NR_038952.1:n.156G>A

Select item 146331692416.

rs1463316924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:111747190 (GRCh38)
1:112289812 (GRCh37)
Canonical SPDI:: NC_000001.11:111747189:T:C
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.111747190T>C, NC_000001.10:g.112289812T>C, NR_125963.1:n.894A>G, NR_038951.1:n.1523T>C, NR_038952.1:n.1368T>C

Select item 146250986417.

rs1462509864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111739892 (GRCh38)
1:112282514 (GRCh37)
Canonical SPDI:: NC_000001.11:111739891:C:T
Gene:: INKA2 (Varview), INKA2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_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_000001.11:g.111739892C>T, NC_000001.10:g.112282514C>T, NR_038951.1:n.52C>T, NR_038952.1:n.52C>T

Select item 146110655018.

rs1461106550 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:111747193 (GRCh38)
1:112289815 (GRCh37)
Canonical SPDI:: NC_000001.11:111747192:A:G
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.111747193A>G, NC_000001.10:g.112289815A>G, NR_125963.1:n.891T>C, NR_038951.1:n.1526A>G, NR_038952.1:n.1371A>G

Select item 145676326419.

rs1456763264 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTAG [Show Flanks]
Chromosome:: 1:111747026 (GRCh38)
1:112289649 (GRCh37)
Canonical SPDI:: NC_000001.11:111747026:AGTGTAG:AGTGTAGTGTAG
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGTGTAGTGTAG=0./0 (ALFA)
AGTGT=0.000079/21 (TOPMED)
AGTGT=0.000093/13 (GnomAD)
HGVS:: NC_000001.11:g.111747029_111747033dup, NC_000001.10:g.112289651_112289655dup, NR_125963.1:n.1053_1057dup, NR_038951.1:n.1362_1366dup, NR_038952.1:n.1207_1211dup

Select item 145548631420.

rs1455486314 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:111746205 (GRCh38)
1:112288827 (GRCh37)
Canonical SPDI:: NC_000001.11:111746204:T:C
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.111746205T>C, NC_000001.10:g.112288827T>C, NR_125963.1:n.1879A>G, NR_038951.1:n.538T>C, NR_038952.1:n.383T>C

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