SNP Links for Gene (Select 406896) - SNP

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Select item 14902713771.

rs1490271377 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:3916904 (GRCh38)
20:3897551 (GRCh37)
Canonical SPDI:: NC_000020.11:3916903:G:A,NC_000020.11:3916903:G:T
Gene:: PANK2 (Varview), MIR103A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000020.11:g.3916904G>A, NC_000020.11:g.3916904G>T, NC_000020.10:g.3897551G>A, NC_000020.10:g.3897551G>T, NG_008131.3:g.33066G>A, NG_008131.3:g.33066G>T

Select item 14870229072.

rs1487022907 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 20:3915975 (GRCh38)
20:3896622 (GRCh37)
Canonical SPDI:: NC_000020.11:3915974:A:C,NC_000020.11:3915974:A:T
Gene:: PANK2 (Varview), MIR103A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000020.11:g.3915975A>C, NC_000020.11:g.3915975A>T, NC_000020.10:g.3896622A>C, NC_000020.10:g.3896622A>T, NG_008131.3:g.32137A>C, NG_008131.3:g.32137A>T

Select item 14869191683.

rs1486919168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:3916501 (GRCh38)
20:3897148 (GRCh37)
Canonical SPDI:: NC_000020.11:3916500:G:C
Gene:: PANK2 (Varview), MIR103A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.3916501G>C, NC_000020.10:g.3897148G>C, NG_008131.3:g.32663G>C

Select item 14858619194.

rs1485861919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:3915576 (GRCh38)
20:3896223 (GRCh37)
Canonical SPDI:: NC_000020.11:3915575:G:A
Gene:: PANK2 (Varview), MIR103A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.3915576G>A, NC_000020.10:g.3896223G>A, NG_008131.3:g.31738G>A

Select item 14845179455.

rs1484517945 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:3917049 (GRCh38)
20:3897696 (GRCh37)
Canonical SPDI:: NC_000020.11:3917048:A:C
Gene:: PANK2 (Varview), MIR103A2 (Varview), MIR103B2 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.3917049A>C, NC_000020.10:g.3897696A>C, NG_008131.3:g.33211A>C, NM_024960.6:c.662A>C, NM_024960.5:c.662A>C, NM_024960.4:c.662A>C, NM_153638.4:c.1535A>C, NM_153638.3:c.1535A>C, NM_153638.2:c.1535A>C, NM_153640.4:c.662A>C, NM_153640.3:c.662A>C, NM_153640.2:c.662A>C, NM_001324191.2:c.662A>C, NM_001324191.1:c.662A>C, NR_136715.2:n.1106A>C, NR_136715.1:n.1559A>C, NM_001324193.2:c.227A>C, NM_001324193.1:c.227A>C, NM_001386393.1:c.1205A>C, NM_153639.1:c.*546A>C, NM_153641.1:c.227A>C, NM_153637.1:c.227A>C, NP_079236.3:p.Glu221Ala, NP_705902.2:p.Glu512Ala, NP_705904.1:p.Glu221Ala, NP_001311120.1:p.Glu221Ala, NP_001311122.1:p.Glu76Ala, NP_001373322.1:p.Glu402Ala

Select item 14835083756.

rs1483508375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:3916958 (GRCh38)
20:3897605 (GRCh37)
Canonical SPDI:: NC_000020.11:3916957:G:A
Gene:: PANK2 (Varview), MIR103A2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.3916958G>A, NC_000020.10:g.3897605G>A, NG_008131.3:g.33120G>A, NM_024960.6:c.571G>A, NM_024960.5:c.571G>A, NM_024960.4:c.571G>A, NM_153638.4:c.1444G>A, NM_153638.3:c.1444G>A, NM_153638.2:c.1444G>A, NM_153640.4:c.571G>A, NM_153640.3:c.571G>A, NM_153640.2:c.571G>A, NM_001324191.2:c.571G>A, NM_001324191.1:c.571G>A, NR_136715.2:n.1015G>A, NR_136715.1:n.1468G>A, NM_001324193.2:c.136G>A, NM_001324193.1:c.136G>A, NM_001386393.1:c.1114G>A, NM_153639.1:c.*455G>A, NM_153641.1:c.136G>A, NM_153637.1:c.136G>A, NP_079236.3:p.Glu191Lys, NP_705902.2:p.Glu482Lys, NP_705904.1:p.Glu191Lys, NP_001311120.1:p.Glu191Lys, NP_001311122.1:p.Glu46Lys, NP_001373322.1:p.Glu372Lys

Select item 14834576917.

rs1483457691 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:3915832 (GRCh38)
20:3896480 (GRCh37)
Canonical SPDI:: NC_000020.11:3915832:A:AA
Gene:: PANK2 (Varview), MIR103A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.3915833dup, NC_000020.10:g.3896480dup, NG_008131.3:g.31995dup

Select item 14833948598.

rs1483394859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:3915766 (GRCh38)
20:3896413 (GRCh37)
Canonical SPDI:: NC_000020.11:3915765:T:C
Gene:: PANK2 (Varview), MIR103A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.3915766T>C, NC_000020.10:g.3896413T>C, NG_008131.3:g.31928T>C

Select item 14812057379.

rs1481205737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:3917616 (GRCh38)
20:3898263 (GRCh37)
Canonical SPDI:: NC_000020.11:3917615:T:G
Gene:: PANK2 (Varview), MIR103A2 (Varview), MIR103B2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.3917616T>G, NC_000020.10:g.3898263T>G, NG_008131.3:g.33778T>G

Select item 147996572610.

rs1479965726 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:3917331 (GRCh38)
20:3897979 (GRCh37)
Canonical SPDI:: NC_000020.11:3917331:GGGGG:GGGGGG
Gene:: PANK2 (Varview), MIR103A2 (Varview), MIR103B2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.3917336dup, NC_000020.10:g.3897983dup, NG_008131.3:g.33498dup

Select item 147578653511.

rs1475786535 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:3917751 (GRCh38)
20:3898398 (GRCh37)
Canonical SPDI:: NC_000020.11:3917750:A:G
Gene:: PANK2 (Varview), MIR103A2 (Varview), MIR103B2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.3917751A>G, NC_000020.10:g.3898398A>G, NG_008131.3:g.33913A>G

Select item 147486652312.

rs1474866523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:3917106 (GRCh38)
20:3897753 (GRCh37)
Canonical SPDI:: NC_000020.11:3917105:G:A,NC_000020.11:3917105:G:T
Gene:: PANK2 (Varview), MIR103A2 (Varview), MIR103B2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.3917106G>A, NC_000020.11:g.3917106G>T, NC_000020.10:g.3897753G>A, NC_000020.10:g.3897753G>T, NG_008131.3:g.33268G>A, NG_008131.3:g.33268G>T

Select item 147436627013.

rs1474366270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:3916207 (GRCh38)
20:3896854 (GRCh37)
Canonical SPDI:: NC_000020.11:3916206:A:G
Gene:: PANK2 (Varview), MIR103A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.3916207A>G, NC_000020.10:g.3896854A>G, NG_008131.3:g.32369A>G

Select item 147109432814.

rs1471094328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:3917999 (GRCh38)
20:3898646 (GRCh37)
Canonical SPDI:: NC_000020.11:3917998:G:A
Gene:: PANK2 (Varview), MIR103A2 (Varview), MIR103B2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.3917999G>A, NC_000020.10:g.3898646G>A, NG_008131.3:g.34161G>A

Select item 147033621415.

rs1470336214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:3917403 (GRCh38)
20:3898050 (GRCh37)
Canonical SPDI:: NC_000020.11:3917402:G:A
Gene:: PANK2 (Varview), MIR103A2 (Varview), MIR103B2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.3917403G>A, NC_000020.10:g.3898050G>A, NG_008131.3:g.33565G>A

Select item 146935722616.

rs1469357226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:3916494 (GRCh38)
20:3897141 (GRCh37)
Canonical SPDI:: NC_000020.11:3916493:C:T
Gene:: PANK2 (Varview), MIR103A2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.3916494C>T, NC_000020.10:g.3897141C>T, NG_008131.3:g.32656C>T

Select item 146876210217.

rs1468762102 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:3916801 (GRCh38)
20:3897448 (GRCh37)
Canonical SPDI:: NC_000020.11:3916800:A:G
Gene:: PANK2 (Varview), MIR103A2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000132/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.00005/7 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000020.11:g.3916801A>G, NC_000020.10:g.3897448A>G, NG_008131.3:g.32963A>G

Select item 146857028618.

rs1468570286 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:3916036 (GRCh38)
20:3896683 (GRCh37)
Canonical SPDI:: NC_000020.11:3916035:A:G
Gene:: PANK2 (Varview), MIR103A2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000020.11:g.3916036A>G, NC_000020.10:g.3896683A>G, NG_008131.3:g.32198A>G

Select item 146757486219.

rs1467574862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 20:3916298 (GRCh38)
20:3896945 (GRCh37)
Canonical SPDI:: NC_000020.11:3916297:T:A,NC_000020.11:3916297:T:G
Gene:: PANK2 (Varview), MIR103A2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.3916298T>A, NC_000020.11:g.3916298T>G, NC_000020.10:g.3896945T>A, NC_000020.10:g.3896945T>G, NG_008131.3:g.32460T>A, NG_008131.3:g.32460T>G

Select item 146343994620.

rs1463439946 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:3917731 (GRCh38)
20:3898378 (GRCh37)
Canonical SPDI:: NC_000020.11:3917730:A:G
Gene:: PANK2 (Varview), MIR103A2 (Varview), MIR103B2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant,2KB_upstream_variant,downstream_transcript_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_000020.11:g.3917731A>G, NC_000020.10:g.3898378A>G, NG_008131.3:g.33893A>G

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