SNP Links for Gene (Select 406901) - SNP

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Select item 14910410301.

rs1491041030 has merged into rs3215821 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 10:89593537 (GRCh38)
10:91353294 (GRCh37)
Canonical SPDI:: NC_000010.11:89593534:AAAA:AA,NC_000010.11:89593534:AAAA:AAA
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0.085828/1336 (ALFA)
-=0.136496/36129 (TOPMED)
-=0.15/6 (GENOME_DK)
-=0.19441/974 (1000Genomes)
-=0.208333/125 (NorthernSweden)
-=0.216433/216 (GoNL)
-=0.220312/987 (Estonian)
-=0.415393/761 (Korea1K)
-=0.457547/97 (Vietnamese)
-=0.464364/7783 (TOMMO)
HGVS:: NC_000010.11:g.89593537_89593538del, NC_000010.11:g.89593538del, NC_000010.10:g.91353294_91353295del, NC_000010.10:g.91353295del, NG_029474.1:g.57037_57038del, NG_029474.1:g.57038del

Select item 14902904652.

rs1490290465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:89593568 (GRCh38)
10:91353325 (GRCh37)
Canonical SPDI:: NC_000010.11:89593567:G:A,NC_000010.11:89593567:G:C
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00031/2 (1000Genomes)
HGVS:: NC_000010.11:g.89593568G>A, NC_000010.11:g.89593568G>C, NC_000010.10:g.91353325G>A, NC_000010.10:g.91353325G>C, NG_029474.1:g.57005C>T, NG_029474.1:g.57005C>G

Select item 14901138803.

rs1490113880 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 10:89593491 (GRCh38)
10:91353248 (GRCh37)
Canonical SPDI:: NC_000010.11:89593490:TTTT:TTT
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.89593494del, NC_000010.10:g.91353251del, NG_029474.1:g.57082del

Select item 14900628364.

rs1490062836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:89594578 (GRCh38)
10:91354335 (GRCh37)
Canonical SPDI:: NC_000010.11:89594577:T:C
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.89594578T>C, NC_000010.10:g.91354335T>C, NG_029474.1:g.55995A>G

Select item 14899494605.

rs1489949460 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:89592925 (GRCh38)
10:91352682 (GRCh37)
Canonical SPDI:: NC_000010.11:89592924:T:A
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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_000010.11:g.89592925T>A, NC_000010.10:g.91352682T>A, NG_029474.1:g.57648A>T

Select item 14884955586.

rs1488495558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:89594724 (GRCh38)
10:91354481 (GRCh37)
Canonical SPDI:: NC_000010.11:89594723:C:T
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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_000010.11:g.89594724C>T, NC_000010.10:g.91354481C>T, NG_029474.1:g.55849G>A

Select item 14841489937.

rs1484148993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:89594417 (GRCh38)
10:91354174 (GRCh37)
Canonical SPDI:: NC_000010.11:89594416:G:T
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000010.11:g.89594417G>T, NC_000010.10:g.91354174G>T, NG_029474.1:g.56156C>A

Select item 14837641508.

rs1483764150 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:89592735 (GRCh38)
10:91352492 (GRCh37)
Canonical SPDI:: NC_000010.11:89592734:T:A
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.89592735T>A, NC_000010.10:g.91352492T>A, NG_029474.1:g.57838A>T

Select item 14819218779.

rs1481921877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:89594558 (GRCh38)
10:91354315 (GRCh37)
Canonical SPDI:: NC_000010.11:89594557:C:T
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.89594558C>T, NC_000010.10:g.91354315C>T, NG_029474.1:g.56015G>A

Select item 148066775910.

rs1480667759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:89592506 (GRCh38)
10:91352263 (GRCh37)
Canonical SPDI:: NC_000010.11:89592505:C:T
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.89592506C>T, NC_000010.10:g.91352263C>T, NG_029474.1:g.58067G>A

Select item 148007907711.

rs1480079077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:89594695 (GRCh38)
10:91354452 (GRCh37)
Canonical SPDI:: NC_000010.11:89594694:G:T
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.89594695G>T, NC_000010.10:g.91354452G>T, NG_029474.1:g.55878C>A

Select item 147969103812.

rs1479691038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:89593041 (GRCh38)
10:91352798 (GRCh37)
Canonical SPDI:: NC_000010.11:89593040:C:T
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.89593041C>T, NC_000010.10:g.91352798C>T, NG_029474.1:g.57532G>A

Select item 147821018313.

rs1478210183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:89593651 (GRCh38)
10:91353408 (GRCh37)
Canonical SPDI:: NC_000010.11:89593650:C:G
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.89593651C>G, NC_000010.10:g.91353408C>G, NG_029474.1:g.56922G>C

Select item 147514948014.

rs1475149480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 10:89594313 (GRCh38)
10:91354070 (GRCh37)
Canonical SPDI:: NC_000010.11:89594312:C:A,NC_000010.11:89594312:C:G
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.89594313C>A, NC_000010.11:g.89594313C>G, NC_000010.10:g.91354070C>A, NC_000010.10:g.91354070C>G, NG_029474.1:g.56260G>T, NG_029474.1:g.56260G>C

Select item 147500023415.

rs1475000234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:89594436 (GRCh38)
10:91354193 (GRCh37)
Canonical SPDI:: NC_000010.11:89594435:G:A
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.89594436G>A, NC_000010.10:g.91354193G>A, NG_029474.1:g.56137C>T

Select item 147151149016.

rs1471511490 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:89594679 (GRCh38)
10:91354437 (GRCh37)
Canonical SPDI:: NC_000010.11:89594679:AAA:AAAA
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.89594682dup, NC_000010.10:g.91354439dup, NG_029474.1:g.55893dup

Select item 146930482217.

rs1469304822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:89592478 (GRCh38)
10:91352235 (GRCh37)
Canonical SPDI:: NC_000010.11:89592477:C:T
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.89592478C>T, NC_000010.10:g.91352235C>T, NG_029474.1:g.58095G>A

Select item 146929879418.

rs1469298794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:89594045 (GRCh38)
10:91353802 (GRCh37)
Canonical SPDI:: NC_000010.11:89594044:G:A
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.89594045G>A, NC_000010.10:g.91353802G>A, NG_029474.1:g.56528C>T

Select item 146857949119.

rs1468579491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:89593365 (GRCh38)
10:91353122 (GRCh37)
Canonical SPDI:: NC_000010.11:89593364:C:G
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.89593365C>G, NC_000010.10:g.91353122C>G, NG_029474.1:g.57208G>C

Select item 146605065420.

rs1466050654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:89594487 (GRCh38)
10:91354244 (GRCh37)
Canonical SPDI:: NC_000010.11:89594486:G:A
Gene:: PANK1 (Varview), MIR107 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.89594487G>A, NC_000010.10:g.91354244G>A, NG_029474.1:g.56086C>T

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