SNP Links for Gene (Select 60598) - SNP

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Select item 14908049461.

rs1490804946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:44748192 (GRCh38)
20:43376833 (GRCh37)
Canonical SPDI:: NC_000020.11:44748191:C:T
Gene:: KCNK15 (Varview), KCNK15-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.44748192C>T, NC_000020.10:g.43376833C>T

Select item 14902867702.

rs1490286770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:44749977 (GRCh38)
20:43378618 (GRCh37)
Canonical SPDI:: NC_000020.11:44749976:G:A
Gene:: KCNK15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.44749977G>A, NC_000020.10:g.43378618G>A

Select item 14885104713.

rs1488510471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:44750385 (GRCh38)
20:43379026 (GRCh37)
Canonical SPDI:: NC_000020.11:44750384:C:T
Gene:: KCNK15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.44750385C>T, NC_000020.10:g.43379026C>T, NM_022358.4:c.540C>T, NM_022358.3:c.540C>T

Select item 14884636684.

rs1488463668 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:44744360 (GRCh38)
20:43373001 (GRCh37)
Canonical SPDI:: NC_000020.11:44744359:A:C
Gene:: KCNK15 (Varview), KCNK15-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.44744360A>C, NC_000020.10:g.43373001A>C

Select item 14883139155.

rs1488313915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:44750149 (GRCh38)
20:43378790 (GRCh37)
Canonical SPDI:: NC_000020.11:44750148:G:A
Gene:: KCNK15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.44750149G>A, NC_000020.10:g.43378790G>A, NM_022358.4:c.304G>A, NM_022358.3:c.304G>A, NP_071753.2:p.Gly102Ser

Select item 14882625176.

rs1488262517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:44747067 (GRCh38)
20:43375708 (GRCh37)
Canonical SPDI:: NC_000020.11:44747066:C:T
Gene:: KCNK15 (Varview), KCNK15-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000177/3 (TOMMO)
HGVS:: NC_000020.11:g.44747067C>T, NC_000020.10:g.43375708C>T

Select item 14881609607.

rs1488160960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 20:44745445 (GRCh38)
20:43374086 (GRCh37)
Canonical SPDI:: NC_000020.11:44745444:C:A,NC_000020.11:44745444:C:G,NC_000020.11:44745444:C:T
Gene:: KCNK15 (Varview), KCNK15-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.01797/52 (KOREAN)
HGVS:: NC_000020.11:g.44745445C>A, NC_000020.11:g.44745445C>G, NC_000020.11:g.44745445C>T, NC_000020.10:g.43374086C>A, NC_000020.10:g.43374086C>G, NC_000020.10:g.43374086C>T

Select item 14877936208.

rs1487793620 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:44747609 (GRCh38)
20:43376250 (GRCh37)
Canonical SPDI:: NC_000020.11:44747608:T:C
Gene:: KCNK15 (Varview), KCNK15-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.44747609T>C, NC_000020.10:g.43376250T>C

Select item 14877827049.

rs1487782704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:44751058 (GRCh38)
20:43379699 (GRCh37)
Canonical SPDI:: NC_000020.11:44751057:G:A
Gene:: KCNK15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.44751058G>A, NC_000020.10:g.43379699G>A, NM_022358.4:c.*220G>A, NM_022358.3:c.*220G>A

Select item 148762619310.

rs1487626193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:44750702 (GRCh38)
20:43379343 (GRCh37)
Canonical SPDI:: NC_000020.11:44750701:C:T
Gene:: KCNK15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.44750702C>T, NC_000020.10:g.43379343C>T, NM_022358.4:c.857C>T, NM_022358.3:c.857C>T, NP_071753.2:p.Ser286Phe

Select item 148755581511.

rs1487555815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:44751681 (GRCh38)
20:43380322 (GRCh37)
Canonical SPDI:: NC_000020.11:44751680:G:C
Gene:: KCNK15 (Varview), RIMS4 (Varview)
Functional Consequence:: 500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.44751681G>C, NC_000020.10:g.43380322G>C, NM_022358.4:c.*843G>C, NM_022358.3:c.*843G>C

Select item 148746956212.

rs1487469562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 20:44750652 (GRCh38)
20:43379293 (GRCh37)
Canonical SPDI:: NC_000020.11:44750651:C:A,NC_000020.11:44750651:C:G,NC_000020.11:44750651:C:T
Gene:: KCNK15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
T=0.000024/3 (GnomAD_exomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.44750652C>A, NC_000020.11:g.44750652C>G, NC_000020.11:g.44750652C>T, NC_000020.10:g.43379293C>A, NC_000020.10:g.43379293C>G, NC_000020.10:g.43379293C>T, NM_022358.4:c.807C>A, NM_022358.4:c.807C>G, NM_022358.4:c.807C>T, NM_022358.3:c.807C>A, NM_022358.3:c.807C>G, NM_022358.3:c.807C>T

Select item 148654031413.

rs1486540314 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:44745877 (GRCh38)
20:43374518 (GRCh37)
Canonical SPDI:: NC_000020.11:44745876:T:C
Gene:: KCNK15 (Varview), KCNK15-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.44745877T>C, NC_000020.10:g.43374518T>C, NM_022358.4:c.-34T>C, NM_022358.3:c.-34T>C

Select item 148632740414.

rs1486327404 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:44745273 (GRCh38)
20:43373914 (GRCh37)
Canonical SPDI:: NC_000020.11:44745272:A:G
Gene:: KCNK15 (Varview), KCNK15-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_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.44745273A>G, NC_000020.10:g.43373914A>G

Select item 148619866815.

rs1486198668 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:44746379 (GRCh38)
20:43375020 (GRCh37)
Canonical SPDI:: NC_000020.11:44746378:T:C
Gene:: KCNK15 (Varview), KCNK15-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (KOREAN)
C=0.00007/1 (TOMMO)
C=0.00055/1 (Korea1K)
HGVS:: NC_000020.11:g.44746379T>C, NC_000020.10:g.43375020T>C

Select item 148614219616.

rs1486142196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:44751511 (GRCh38)
20:43380152 (GRCh37)
Canonical SPDI:: NC_000020.11:44751510:A:G
Gene:: KCNK15 (Varview), RIMS4 (Varview)
Functional Consequence:: 500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.44751511A>G, NC_000020.10:g.43380152A>G, NM_022358.4:c.*673A>G, NM_022358.3:c.*673A>G

Select item 148611585317.

rs1486115853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:44752483 (GRCh38)
20:43381124 (GRCh37)
Canonical SPDI:: NC_000020.11:44752482:G:A
Gene:: KCNK15 (Varview), RIMS4 (Varview)
Functional Consequence:: 500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.44752483G>A, NC_000020.10:g.43381124G>A, NM_182970.4:c.*3651C>T, NM_182970.3:c.*3651C>T, NM_001205317.2:c.*3651C>T, NM_001205317.1:c.*3651C>T

Select item 148520893118.

rs1485208931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 20:44745377 (GRCh38)
20:43374018 (GRCh37)
Canonical SPDI:: NC_000020.11:44745376:T:A,NC_000020.11:44745376:T:C,NC_000020.11:44745376:T:G
Gene:: KCNK15 (Varview), KCNK15-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
G=0.000071/2 (TOMMO)
G=0.048839/143 (KOREAN)
HGVS:: NC_000020.11:g.44745377T>A, NC_000020.11:g.44745377T>C, NC_000020.11:g.44745377T>G, NC_000020.10:g.43374018T>A, NC_000020.10:g.43374018T>C, NC_000020.10:g.43374018T>G

Select item 148469619519.

rs1484696195 has merged into rs145032964 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGGGAGGGAGG>-,GAGG,GAGGGAGG,GAGGGAGGGAGGGAGG,GAGGGAGGGAGGGAGGGAGG [Show Flanks]
Chromosome:: 20:44745524 (GRCh38)
20:43374165 (GRCh37)
Canonical SPDI:: NC_000020.11:44745518:GGAGGGAGGGAGGGAGG:GGAGG,NC_000020.11:44745518:GGAGGGAGGGAGGGAGG:GGAGGGAGG,NC_000020.11:44745518:GGAGGGAGGGAGGGAGG:GGAGGGAGGGAGG,NC_000020.11:44745518:GGAGGGAGGGAGGGAGG:GGAGGGAGGGAGGGAGGGAGG,NC_000020.11:44745518:GGAGGGAGGGAGGGAGG:GGAGGGAGGGAGGGAGGGAGGGAGG
Gene:: KCNK15 (Varview), KCNK15-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAGGGAGGGAGGGAGGGAGG=0./0 (ALFA)
-=0.05593/33 (NorthernSweden)
-=0.06669/334 (1000Genomes)
-=0.16043/283 (Korea1K)
-=0.21865/3115 (TOMMO)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000020.11:g.44745520GAGG[1], NC_000020.11:g.44745520GAGG[2], NC_000020.11:g.44745520GAGG[3], NC_000020.11:g.44745520GAGG[5], NC_000020.11:g.44745520GAGG[6], NC_000020.10:g.43374161GAGG[1], NC_000020.10:g.43374161GAGG[2], NC_000020.10:g.43374161GAGG[3], NC_000020.10:g.43374161GAGG[5], NC_000020.10:g.43374161GAGG[6]

Select item 148389778320.

rs1483897783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:44749644 (GRCh38)
20:43378285 (GRCh37)
Canonical SPDI:: NC_000020.11:44749643:G:A
Gene:: KCNK15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000020.11:g.44749644G>A, NC_000020.10:g.43378285G>A

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