SNP Links for Nucleotide (Select 291463297) - SNP

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Links from Nucleotide

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Select item 14889869621.

rs1488986962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:47582287 (GRCh38)
10:48157075 (GRCh37)
Canonical SPDI:: NC_000010.11:47582286:A:G
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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)
G=0.000546/1 (Korea1K)
HGVS:: NC_000010.11:g.47582287A>G, NW_003871068.1:g.1853402A>G, NC_000010.10:g.48157075T>C, NR_033407.1:n.206T>C

Select item 14889271932.

rs1488927193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:47583415 (GRCh38)
10:48155947 (GRCh37)
Canonical SPDI:: NC_000010.11:47583414:C:T
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.02723/323 (ALFA)
T=0.01312/84 (1000Genomes)
T=0.02412/1156 (GnomAD)
HGVS:: NC_000010.11:g.47583415C>T, NW_003871068.1:g.1854530C>T, NC_000010.10:g.48155947G>A, NR_033407.1:n.5G>A

Select item 14882742973.

rs1488274297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:47582290 (GRCh38)
10:48157072 (GRCh37)
Canonical SPDI:: NC_000010.11:47582289:A:C,NC_000010.11:47582289:A:G
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.003665/43 (ALFA)
T=0./0 (SGDP_PRJ)
G=0.000009/1 (GnomAD)
C=0.017166/485 (TOMMO)
HGVS:: NC_000010.11:g.47582290A>C, NC_000010.11:g.47582290A>G, NW_003871068.1:g.1853405A>C, NW_003871068.1:g.1853405A>G, NC_000010.10:g.48157072T>G, NC_000010.10:g.48157072T>C, NR_033407.1:n.203T>G, NR_033407.1:n.203T>C

Select item 14867011904.

rs1486701190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:47581025 (GRCh38)
10:48158337 (GRCh37)
Canonical SPDI:: NC_000010.11:47581024:G:A
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0./0 (SGDP_PRJ)
A=0.000008/2 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000010.11:g.47581025G>A, NW_003871068.1:g.1852140G>A, NC_000010.10:g.48158337C>T, NR_033407.1:n.751C>T

Select item 14857182725.

rs1485718272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:47581501 (GRCh38)
10:48157861 (GRCh37)
Canonical SPDI:: NC_000010.11:47581500:C:A
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000010.11:g.47581501C>A, NW_003871068.1:g.1852616C>A, NC_000010.10:g.48157861G>T, NR_033407.1:n.375G>T

Select item 14834070416.

rs1483407041 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:47580708 (GRCh38)
10:48158654 (GRCh37)
Canonical SPDI:: NC_000010.11:47580707:A:C
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
G=0.01797/34 (KOREAN)
HGVS:: NC_000010.11:g.47580708A>C, NW_003871068.1:g.1851823A>C, NC_000010.10:g.48158654T>G, NR_033407.1:n.1068T>G

Select item 14808956787.

rs1480895678 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:47581096 (GRCh38)
10:48158266 (GRCh37)
Canonical SPDI:: NC_000010.11:47581095:T:G
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000010.11:g.47581096T>G, NW_003871068.1:g.1852211T>G, NC_000010.10:g.48158266A>C, NR_033407.1:n.680A>C

Select item 14779140368.

rs1477914036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:47580903 (GRCh38)
10:48158459 (GRCh37)
Canonical SPDI:: NC_000010.11:47580902:C:T
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000010.11:g.47580903C>T, NW_003871068.1:g.1852018C>T, NC_000010.10:g.48158459G>A, NR_033407.1:n.873G>A

Select item 14767549959.

rs1476754995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:47583399 (GRCh38)
10:48155963 (GRCh37)
Canonical SPDI:: NC_000010.11:47583398:G:A
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.47583399G>A, NW_003871068.1:g.1854514G>A, NC_000010.10:g.48155963C>T, NR_033407.1:n.21C>T

Select item 147634401310.

rs1476344013 has merged into rs1165928695 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAA>-,CAAACAAA [Show Flanks]
Chromosome:: 10:47581088 (GRCh38)
10:48158282 (GRCh37)
Canonical SPDI:: NC_000010.11:47581076:AAACAAACAAACAAA:AAACAAACAAA,NC_000010.11:47581076:AAACAAACAAACAAA:AAACAAACAAACAAACAAA
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAACAAACAAACAAACAAA=0./0 (ALFA)
-=0.00014/37 (TOPMED)
-=0.000781/5 (1000Genomes)
-=0.002729/5 (Korea1K)
-=0.00349/34 (TOMMO)
HGVS:: NC_000010.11:g.47581080CAAA[2], NC_000010.11:g.47581080CAAA[4], NW_003871068.1:g.1852195CAAA[2], NW_003871068.1:g.1852195CAAA[4], NC_000010.10:g.48158274GTTT[2], NC_000010.10:g.48158274GTTT[4], NR_033407.1:n.688GTTT[2], NR_033407.1:n.688GTTT[4]

Select item 147471486211.

rs1474714862 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:47580761 (GRCh38)
10:48158601 (GRCh37)
Canonical SPDI:: NC_000010.11:47580761::C
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00017/2 (ALFA)
C=0.02616/699 (TOMMO)
HGVS:: NC_000010.11:g.47580761_47580762insC, NW_003871068.1:g.1851876_1851877insC, NC_000010.10:g.48158600_48158601insG, NR_033407.1:n.1014_1015insG

Select item 147453160112.

rs1474531601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:47581018 (GRCh38)
10:48158344 (GRCh37)
Canonical SPDI:: NC_000010.11:47581017:G:A
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.47581018G>A, NW_003871068.1:g.1852133G>A, NC_000010.10:g.48158344C>T, NR_033407.1:n.758C>T

Select item 146919565913.

rs1469195659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:47580766 (GRCh38)
10:48158596 (GRCh37)
Canonical SPDI:: NC_000010.11:47580765:C:A
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000507/6 (ALFA)
A=0.00007/9 (GnomAD)
G=0.25/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.47580766C>A, NW_003871068.1:g.1851881C>A, NC_000010.10:g.48158596G>T, NR_033407.1:n.1010G>T

Select item 146817401514.

rs1468174015 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:47580787 (GRCh38)
10:48158575 (GRCh37)
Canonical SPDI:: NC_000010.11:47580786:A:G,NC_000010.11:47580786:A:T
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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_000010.11:g.47580787A>G, NC_000010.11:g.47580787A>T, NW_003871068.1:g.1851902A>G, NW_003871068.1:g.1851902A>T, NC_000010.10:g.48158575T>C, NC_000010.10:g.48158575T>A, NR_033407.1:n.989T>C, NR_033407.1:n.989T>A

Select item 146817330315.

rs1468173303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:47580794 (GRCh38)
10:48158568 (GRCh37)
Canonical SPDI:: NC_000010.11:47580793:G:A
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.47580794G>A, NW_003871068.1:g.1851909G>A, NC_000010.10:g.48158568C>T, NR_033407.1:n.982C>T

Select item 146682636316.

rs1466826363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:47581263 (GRCh38)
10:48158099 (GRCh37)
Canonical SPDI:: NC_000010.11:47581262:G:T
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000036/5 (GnomAD)
T=0.00006/16 (TOPMED)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000010.11:g.47581263G>T, NW_003871068.1:g.1852378G>T, NC_000010.10:g.48158099C>A, NR_033407.1:n.513C>A

Select item 146352571117.

rs1463525711 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:47580749 (GRCh38)
10:48158613 (GRCh37)
Canonical SPDI:: NC_000010.11:47580748:A:G
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00002/1 (GnomAD)
HGVS:: NC_000010.11:g.47580749A>G, NW_003871068.1:g.1851864A>G, NC_000010.10:g.48158613T>C, NR_033407.1:n.1027T>C

Select item 146318270618.

rs1463182706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:47581176 (GRCh38)
10:48158186 (GRCh37)
Canonical SPDI:: NC_000010.11:47581175:G:C
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.47581176G>C, NW_003871068.1:g.1852291G>C, NC_000010.10:g.48158186C>G, NR_033407.1:n.600C>G

Select item 146056887519.

rs1460568875 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:47580783 (GRCh38)
10:48158579 (GRCh37)
Canonical SPDI:: NC_000010.11:47580782:A:C
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.47580783A>C, NW_003871068.1:g.1851898A>C, NC_000010.10:g.48158579T>G, NR_033407.1:n.993T>G

Select item 145513245220.

rs1455132452 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:47580790 (GRCh38)
10:48158572 (GRCh37)
Canonical SPDI:: NC_000010.11:47580790::G
Gene:: CTSLP2 (Varview), ANXA8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.47580790_47580791insG, NW_003871068.1:g.1851905_1851906insG, NC_000010.10:g.48158571_48158572insC, NR_033407.1:n.985_986insC