SNP Links for Gene (Select 84197) - SNP

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Items: 1 to 20 of 7914

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Select item 14915145401.

rs1491514540 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:43092327 (GRCh38)
8:42947470 (GRCh37)
Canonical SPDI:: NC_000008.11:43092325:TCT:T
Gene:: POMK (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.43092327_43092328del, NC_000008.10:g.42947470_42947471del, NG_033235.1:g.3822_3823del

Select item 14913586902.

rs1491358690 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:43119470 (GRCh38)
8:42974613 (GRCh37)
Canonical SPDI:: NC_000008.11:43119466:TCTCT:TCT
Gene:: POMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.43119468CT[1], NC_000008.10:g.42974611CT[1], NG_033235.1:g.30963CT[1]

Select item 14912276953.

rs1491227695 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 14909736214.

rs1490973621 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:43095891 (GRCh38)
8:42951034 (GRCh37)
Canonical SPDI:: NC_000008.11:43095890:T:A
Gene:: POMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.43095891T>A, NC_000008.10:g.42951034T>A, NG_033235.1:g.7386T>A

Select item 14909618345.

rs1490961834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:43114443 (GRCh38)
8:42969586 (GRCh37)
Canonical SPDI:: NC_000008.11:43114442:C:T
Gene:: POMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.43114443C>T, NC_000008.10:g.42969586C>T, NG_033235.1:g.25938C>T

Select item 14909310636.

rs1490931063 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:43104958 (GRCh38)
8:42960101 (GRCh37)
Canonical SPDI:: NC_000008.11:43104957:A:T
Gene:: POMK (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000008.11:g.43104958A>T, NC_000008.10:g.42960101A>T, NG_033235.1:g.16453A>T

Select item 14908939787.

rs1490893978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:43111707 (GRCh38)
8:42966850 (GRCh37)
Canonical SPDI:: NC_000008.11:43111706:C:T
Gene:: POMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.43111707C>T, NC_000008.10:g.42966850C>T, NG_033235.1:g.23202C>T

Select item 14908784548.

rs1490878454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:43111000 (GRCh38)
8:42966143 (GRCh37)
Canonical SPDI:: NC_000008.11:43110999:G:A
Gene:: POMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.43111000G>A, NC_000008.10:g.42966143G>A, NG_033235.1:g.22495G>A

Select item 14908323019.

rs1490832301 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:43099908 (GRCh38)
8:42955051 (GRCh37)
Canonical SPDI:: NC_000008.11:43099907:A:T
Gene:: POMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.43099908A>T, NC_000008.10:g.42955051A>T, NG_033235.1:g.11403A>T

Select item 149081620610.

rs1490816206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:43097476 (GRCh38)
8:42952619 (GRCh37)
Canonical SPDI:: NC_000008.11:43097475:G:C
Gene:: POMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.43097476G>C, NC_000008.10:g.42952619G>C, NG_033235.1:g.8971G>C

Select item 149077489411.

rs1490774894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:43122835 (GRCh38)
8:42977978 (GRCh37)
Canonical SPDI:: NC_000008.11:43122834:A:C,NC_000008.11:43122834:A:G
Gene:: POMK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.43122835A>C, NC_000008.11:g.43122835A>G, NC_000008.10:g.42977978A>C, NC_000008.10:g.42977978A>G, NG_033235.1:g.34330A>C, NG_033235.1:g.34330A>G, NM_032237.5:c.1011A>C, NM_032237.5:c.1011A>G, NM_032237.4:c.1011A>C, NM_032237.4:c.1011A>G, NM_001277971.2:c.1011A>C, NM_001277971.2:c.1011A>G, NM_001277971.1:c.1011A>C, NM_001277971.1:c.1011A>G

Select item 149060174112.

rs1490601741 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:43100272 (GRCh38)
8:42955415 (GRCh37)
Canonical SPDI:: NC_000008.11:43100271:A:G
Gene:: POMK (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000008.11:g.43100272A>G, NC_000008.10:g.42955415A>G, NG_033235.1:g.11767A>G

Select item 149057994713.

rs1490579947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:43113655 (GRCh38)
8:42968798 (GRCh37)
Canonical SPDI:: NC_000008.11:43113654:A:T
Gene:: POMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.43113655A>T, NC_000008.10:g.42968798A>T, NG_033235.1:g.25150A>T

Select item 149045531914.

rs1490455319 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:43104436 (GRCh38)
8:42959579 (GRCh37)
Canonical SPDI:: NC_000008.11:43104435:A:G
Gene:: POMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.43104436A>G, NC_000008.10:g.42959579A>G, NG_033235.1:g.15931A>G

Select item 149027030915.

rs1490270309 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:43112706 (GRCh38)
8:42967849 (GRCh37)
Canonical SPDI:: NC_000008.11:43112705:A:T
Gene:: POMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.43112706A>T, NC_000008.10:g.42967849A>T, NG_033235.1:g.24201A>T

Select item 149018175716.

rs1490181757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:43106399 (GRCh38)
8:42961542 (GRCh37)
Canonical SPDI:: NC_000008.11:43106398:A:G
Gene:: POMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.43106399A>G, NC_000008.10:g.42961542A>G, NG_033235.1:g.17894A>G

Select item 149014115517.

rs1490141155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:43113895 (GRCh38)
8:42969038 (GRCh37)
Canonical SPDI:: NC_000008.11:43113894:G:A
Gene:: POMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.43113895G>A, NC_000008.10:g.42969038G>A, NG_033235.1:g.25390G>A

Select item 149012572018.

rs1490125720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:43105339 (GRCh38)
8:42960482 (GRCh37)
Canonical SPDI:: NC_000008.11:43105338:G:T
Gene:: POMK (Varview)
Functional Consequence:: 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_000008.11:g.43105339G>T, NC_000008.10:g.42960482G>T, NG_033235.1:g.16834G>T

Select item 149009811419.

rs1490098114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:43119323 (GRCh38)
8:42974466 (GRCh37)
Canonical SPDI:: NC_000008.11:43119322:G:A,NC_000008.11:43119322:G:T
Gene:: POMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.43119323G>A, NC_000008.11:g.43119323G>T, NC_000008.10:g.42974466G>A, NC_000008.10:g.42974466G>T, NG_033235.1:g.30818G>A, NG_033235.1:g.30818G>T

Select item 149004676220.

rs1490046762 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:43118441 (GRCh38)
8:42973584 (GRCh37)
Canonical SPDI:: NC_000008.11:43118440:G:A,NC_000008.11:43118440:G:C
Gene:: POMK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.43118441G>A, NC_000008.11:g.43118441G>C, NC_000008.10:g.42973584G>A, NC_000008.10:g.42973584G>C, NG_033235.1:g.29936G>A, NG_033235.1:g.29936G>C

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