SNP Links for Nucleotide (Select 63999351) - SNP

Links from Nucleotide

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Select item 14886299121.

rs1488629912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:20343221 (GRCh38)
14:20811380 (GRCh37)
Canonical SPDI:: NC_000014.9:20343220:C:G,NC_000014.9:20343220:C:T
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.20343221C>G, NC_000014.9:g.20343221C>T, NG_033959.1:g.4608C>G, NG_033959.1:g.4608C>T, NW_025791796.1:g.545902C>G, NW_025791796.1:g.545902C>T, NC_000014.8:g.20811380C>G, NC_000014.8:g.20811380C>T, NR_002312.1:n.191G>C, NR_002312.1:n.191G>A

Select item 14858563272.

rs1485856327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 14:20343292 (GRCh38)
14:20811451 (GRCh37)
Canonical SPDI:: NC_000014.9:20343291:G:A,NC_000014.9:20343291:G:C,NC_000014.9:20343291:G:T
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.20343292G>A, NC_000014.9:g.20343292G>C, NC_000014.9:g.20343292G>T, NG_033959.1:g.4679G>A, NG_033959.1:g.4679G>C, NG_033959.1:g.4679G>T, NW_025791796.1:g.545973G>A, NW_025791796.1:g.545973G>C, NW_025791796.1:g.545973G>T, NC_000014.8:g.20811451G>A, NC_000014.8:g.20811451G>C, NC_000014.8:g.20811451G>T, NR_002312.1:n.120C>T, NR_002312.1:n.120C>G, NR_002312.1:n.120C>A

Select item 14847482803.

rs1484748280 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:20343195 (GRCh38)
14:20811355 (GRCh37)
Canonical SPDI:: NC_000014.9:20343195:GGG:GGGG
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0./0 (ALFA)
HGVS:: NC_000014.9:g.20343198dup, NG_033959.1:g.4585dup, NW_025791796.1:g.545879dup, NC_000014.8:g.20811357dup, NR_002312.1:n.216dup

Select item 14840872374.

rs1484087237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:20343245 (GRCh38)
14:20811404 (GRCh37)
Canonical SPDI:: NC_000014.9:20343244:C:A,NC_000014.9:20343244:C:T
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.20343245C>A, NC_000014.9:g.20343245C>T, NG_033959.1:g.4632C>A, NG_033959.1:g.4632C>T, NW_025791796.1:g.545926C>A, NW_025791796.1:g.545926C>T, NC_000014.8:g.20811404C>A, NC_000014.8:g.20811404C>T, NR_002312.1:n.167G>T, NR_002312.1:n.167G>A

Select item 14840858645.

rs1484085864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 14:20343389 (GRCh38)
14:20811548 (GRCh37)
Canonical SPDI:: NC_000014.9:20343388:T:A,NC_000014.9:20343388:T:C,NC_000014.9:20343388:T:G
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.00003/8 (TOPMED)
C=0.000547/1 (Korea1K)
HGVS:: NC_000014.9:g.20343389T>A, NC_000014.9:g.20343389T>C, NC_000014.9:g.20343389T>G, NG_033959.1:g.4776T>A, NG_033959.1:g.4776T>C, NG_033959.1:g.4776T>G, NW_025791796.1:g.546070T>A, NW_025791796.1:g.546070T>C, NW_025791796.1:g.546070T>G, NC_000014.8:g.20811548T>A, NC_000014.8:g.20811548T>C, NC_000014.8:g.20811548T>G, NR_002312.1:n.23A>T, NR_002312.1:n.23A>G, NR_002312.1:n.23A>C

Select item 14833221276.

rs1483322127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20343362 (GRCh38)
14:20811521 (GRCh37)
Canonical SPDI:: NC_000014.9:20343361:C:T
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000014.9:g.20343362C>T, NG_033959.1:g.4749C>T, NW_025791796.1:g.546043C>T, NC_000014.8:g.20811521C>T, NR_002312.1:n.50G>A

Select item 14831289167.

rs1483128916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:20343136 (GRCh38)
14:20811295 (GRCh37)
Canonical SPDI:: NC_000014.9:20343135:A:C
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.20343136A>C, NG_033959.1:g.4523A>C, NW_025791796.1:g.545817A>C, NC_000014.8:g.20811295A>C, NR_002312.1:n.276T>G

Select item 14680487678.

rs1468048767 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:20343149 (GRCh38)
14:20811308 (GRCh37)
Canonical SPDI:: NC_000014.9:20343148:C:G,NC_000014.9:20343148:C:T
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.20343149C>G, NC_000014.9:g.20343149C>T, NG_033959.1:g.4536C>G, NG_033959.1:g.4536C>T, NW_025791796.1:g.545830C>G, NW_025791796.1:g.545830C>T, NC_000014.8:g.20811308C>G, NC_000014.8:g.20811308C>T, NR_002312.1:n.263G>C, NR_002312.1:n.263G>A

Select item 14679123679.

rs1467912367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20343217 (GRCh38)
14:20811376 (GRCh37)
Canonical SPDI:: NC_000014.9:20343216:G:A
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_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_000014.9:g.20343217G>A, NG_033959.1:g.4604G>A, NW_025791796.1:g.545898G>A, NC_000014.8:g.20811376G>A, NR_002312.1:n.195C>T

Select item 146155705810.

rs1461557058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20343184 (GRCh38)
14:20811343 (GRCh37)
Canonical SPDI:: NC_000014.9:20343183:G:A
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000014.9:g.20343184G>A, NG_033959.1:g.4571G>A, NW_025791796.1:g.545865G>A, NC_000014.8:g.20811343G>A, NR_002312.1:n.228C>T

Select item 145971326511.

rs1459713265 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 14:20343080 (GRCh38)
14:20811239 (GRCh37)
Canonical SPDI:: NC_000014.9:20343079:A:C,NC_000014.9:20343079:A:G
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000009/1 (GnomAD)
G=0.000849/24 (TOMMO)
G=0.056888/166 (KOREAN)
HGVS:: NC_000014.9:g.20343080A>C, NC_000014.9:g.20343080A>G, NG_033959.1:g.4467A>C, NG_033959.1:g.4467A>G, NW_025791796.1:g.545761A>C, NW_025791796.1:g.545761A>G, NC_000014.8:g.20811239A>C, NC_000014.8:g.20811239A>G, NR_002312.1:n.332T>G, NR_002312.1:n.332T>C

Select item 145893542212.

rs1458935422 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 14:20343210 (GRCh38)
14:20811369 (GRCh37)
Canonical SPDI:: NC_000014.9:20343209:A:C,NC_000014.9:20343209:A:G
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.20343210A>C, NC_000014.9:g.20343210A>G, NG_033959.1:g.4597A>C, NG_033959.1:g.4597A>G, NW_025791796.1:g.545891A>C, NW_025791796.1:g.545891A>G, NC_000014.8:g.20811369A>C, NC_000014.8:g.20811369A>G, NR_002312.1:n.202T>G, NR_002312.1:n.202T>C

Select item 145861559013.

rs1458615590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:20343310 (GRCh38)
14:20811469 (GRCh37)
Canonical SPDI:: NC_000014.9:20343309:C:A,NC_000014.9:20343309:C:T
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.20343310C>A, NC_000014.9:g.20343310C>T, NG_033959.1:g.4697C>A, NG_033959.1:g.4697C>T, NW_025791796.1:g.545991C>A, NW_025791796.1:g.545991C>T, NC_000014.8:g.20811469C>A, NC_000014.8:g.20811469C>T, NR_002312.1:n.102G>T, NR_002312.1:n.102G>A

Select item 145580648014.

rs1455806480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:20343120 (GRCh38)
14:20811279 (GRCh37)
Canonical SPDI:: NC_000014.9:20343119:G:A,NC_000014.9:20343119:G:C
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000049/13 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000014.9:g.20343120G>A, NC_000014.9:g.20343120G>C, NG_033959.1:g.4507G>A, NG_033959.1:g.4507G>C, NW_025791796.1:g.545801G>A, NW_025791796.1:g.545801G>C, NC_000014.8:g.20811279G>A, NC_000014.8:g.20811279G>C, NR_002312.1:n.292C>T, NR_002312.1:n.292C>G

Select item 144116160915.

rs1441161609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20343270 (GRCh38)
14:20811429 (GRCh37)
Canonical SPDI:: NC_000014.9:20343269:G:A
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.20343270G>A, NG_033959.1:g.4657G>A, NW_025791796.1:g.545951G>A, NC_000014.8:g.20811429G>A, NR_002312.1:n.142C>T

Select item 143722648716.

rs1437226487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20343075 (GRCh38)
14:20811234 (GRCh37)
Canonical SPDI:: NC_000014.9:20343074:G:A
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000014.9:g.20343075G>A, NG_033959.1:g.4462G>A, NW_025791796.1:g.545756G>A, NC_000014.8:g.20811234G>A, NR_002312.1:n.337C>T

Select item 143703145117.

rs1437031451 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 14:20343255 (GRCh38)
14:20811414 (GRCh37)
Canonical SPDI:: NC_000014.9:20343254:A:C,NC_000014.9:20343254:A:G
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.20343255A>C, NC_000014.9:g.20343255A>G, NG_033959.1:g.4642A>C, NG_033959.1:g.4642A>G, NW_025791796.1:g.545936A>C, NW_025791796.1:g.545936A>G, NC_000014.8:g.20811414A>C, NC_000014.8:g.20811414A>G, NR_002312.1:n.157T>G, NR_002312.1:n.157T>C

Select item 143526824518.

rs1435268245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:20343172 (GRCh38)
14:20811331 (GRCh37)
Canonical SPDI:: NC_000014.9:20343171:G:A,NC_000014.9:20343171:G:C
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.20343172G>A, NC_000014.9:g.20343172G>C, NG_033959.1:g.4559G>A, NG_033959.1:g.4559G>C, NW_025791796.1:g.545853G>A, NW_025791796.1:g.545853G>C, NC_000014.8:g.20811331G>A, NC_000014.8:g.20811331G>C, NR_002312.1:n.240C>T, NR_002312.1:n.240C>G

Select item 142798915119.

rs1427989151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20343235 (GRCh38)
14:20811394 (GRCh37)
Canonical SPDI:: NC_000014.9:20343234:C:T
Gene:: PARP2 (Varview), RPPH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000107/15 (GnomAD)
T=0.000125/33 (TOPMED)
HGVS:: NC_000014.9:g.20343235C>T, NG_033959.1:g.4622C>T, NW_025791796.1:g.545916C>T, NC_000014.8:g.20811394C>T, NR_002312.1:n.177G>A

Select item 142733682420.

rs1427336824 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 14:20343234 (GRCh38)
14:20811393 (GRCh37)
Canonical SPDI:: NC_000014.9:20343233:G:A,NC_000014.9:20343233:G:C,NC_000014.9:20343233:G:T
Gene:: PARP2 (Varview), RPPH1 (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=0.000007/1 (GnomAD)
C=0.000142/2 (TOMMO)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000014.9:g.20343234G>A, NC_000014.9:g.20343234G>C, NC_000014.9:g.20343234G>T, NG_033959.1:g.4621G>A, NG_033959.1:g.4621G>C, NG_033959.1:g.4621G>T, NW_025791796.1:g.545915G>A, NW_025791796.1:g.545915G>C, NW_025791796.1:g.545915G>T, NC_000014.8:g.20811393G>A, NC_000014.8:g.20811393G>C, NC_000014.8:g.20811393G>T, NR_002312.1:n.178C>T, NR_002312.1:n.178C>G, NR_002312.1:n.178C>A

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