SNP Links for Gene (Select 55450) - SNP

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Select item 14912822271.

rs1491282227 has merged into rs1553134063 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 1:20482895 (GRCh38)
1:20809388 (GRCh37)
Canonical SPDI:: NC_000001.11:20482891:TTTTT:TTT,NC_000001.11:20482891:TTTTT:TTTTTTT
Gene:: CAMK2N1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.000162/3 (ALFA)
-=0.000106/2 (TOMMO)
-=0.00022/30 (GnomAD)
HGVS:: NC_000001.11:g.20482895_20482896del, NC_000001.11:g.20482895_20482896dup, NC_000001.10:g.20809388_20809389del, NC_000001.10:g.20809388_20809389dup, NM_018584.6:c.*756_*757del, NM_018584.6:c.*756_*757dup, NM_018584.5:c.*756_*757del, NM_018584.5:c.*756_*757dup

Select item 14898591902.

rs1489859190 has merged into rs1264631855 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:20482839 (GRCh38)
1:20809332 (GRCh37)
Canonical SPDI:: NC_000001.11:20482838:TTTTTTT:TTTTTT,NC_000001.11:20482838:TTTTTTT:TTTTTTTT
Gene:: CAMK2N1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000023/3 (GnomAD)
HGVS:: NC_000001.11:g.20482845del, NC_000001.11:g.20482845dup, NC_000001.10:g.20809338del, NC_000001.10:g.20809338dup, NM_018584.6:c.*810del, NM_018584.6:c.*810dup, NM_018584.5:c.*810del, NM_018584.5:c.*810dup

Select item 14895893383.

rs1489589338 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:20483154 (GRCh38)
1:20809647 (GRCh37)
Canonical SPDI:: NC_000001.11:20483153:A:T
Gene:: CAMK2N1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000001.11:g.20483154A>T, NC_000001.10:g.20809647A>T, NM_018584.6:c.*495T>A, NM_018584.5:c.*495T>A

Select item 14893950424.

rs1489395042 has merged into rs71010558 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:20482871 (GRCh38)
1:20809364 (GRCh37)
Canonical SPDI:: NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:20482856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: CAMK2N1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000001.11:g.20482857GT[7], NC_000001.11:g.20482857GT[9], NC_000001.11:g.20482857GT[10], NC_000001.11:g.20482857GT[11], NC_000001.11:g.20482857GT[12], NC_000001.11:g.20482857GT[13], NC_000001.11:g.20482857GT[14], NC_000001.11:g.20482857GT[15], NC_000001.11:g.20482857GT[16], NC_000001.11:g.20482857GT[17], NC_000001.11:g.20482857GT[19], NC_000001.11:g.20482857GT[20], NC_000001.11:g.20482857GT[21], NC_000001.11:g.20482857GT[22], NC_000001.11:g.20482857GT[23], NC_000001.11:g.20482857GT[24], NC_000001.11:g.20482857GT[25], NC_000001.11:g.20482857GT[26], NC_000001.11:g.20482857GT[27], NC_000001.11:g.20482857GT[29], NC_000001.10:g.20809350GT[7], NC_000001.10:g.20809350GT[9], NC_000001.10:g.20809350GT[10], NC_000001.10:g.20809350GT[11], NC_000001.10:g.20809350GT[12], NC_000001.10:g.20809350GT[13], NC_000001.10:g.20809350GT[14], NC_000001.10:g.20809350GT[15], NC_000001.10:g.20809350GT[16], NC_000001.10:g.20809350GT[17], NC_000001.10:g.20809350GT[19], NC_000001.10:g.20809350GT[20], NC_000001.10:g.20809350GT[21], NC_000001.10:g.20809350GT[22], NC_000001.10:g.20809350GT[23], NC_000001.10:g.20809350GT[24], NC_000001.10:g.20809350GT[25], NC_000001.10:g.20809350GT[26], NC_000001.10:g.20809350GT[27], NC_000001.10:g.20809350GT[29], NM_018584.6:c.*757AC[7], NM_018584.6:c.*757AC[9], NM_018584.6:c.*757AC[10], NM_018584.6:c.*757AC[11], NM_018584.6:c.*757AC[12], NM_018584.6:c.*757AC[13], NM_018584.6:c.*757AC[14], NM_018584.6:c.*757AC[15], NM_018584.6:c.*757AC[16], NM_018584.6:c.*757AC[17], NM_018584.6:c.*757AC[19], NM_018584.6:c.*757AC[20], NM_018584.6:c.*757AC[21], NM_018584.6:c.*757AC[22], NM_018584.6:c.*757AC[23], NM_018584.6:c.*757AC[24], NM_018584.6:c.*757AC[25], NM_018584.6:c.*757AC[26], NM_018584.6:c.*757AC[27], NM_018584.6:c.*757AC[29], NM_018584.5:c.*757AC[7], NM_018584.5:c.*757AC[9], NM_018584.5:c.*757AC[10], NM_018584.5:c.*757AC[11], NM_018584.5:c.*757AC[12], NM_018584.5:c.*757AC[13], NM_018584.5:c.*757AC[14], NM_018584.5:c.*757AC[15], NM_018584.5:c.*757AC[16], NM_018584.5:c.*757AC[17], NM_018584.5:c.*757AC[19], NM_018584.5:c.*757AC[20], NM_018584.5:c.*757AC[21], NM_018584.5:c.*757AC[22], NM_018584.5:c.*757AC[23], NM_018584.5:c.*757AC[24], NM_018584.5:c.*757AC[25], NM_018584.5:c.*757AC[26], NM_018584.5:c.*757AC[27], NM_018584.5:c.*757AC[29]

Select item 14876564335.

rs1487656433 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:20482674 (GRCh38)
1:20809167 (GRCh37)
Canonical SPDI:: NC_000001.11:20482673:A:G
Gene:: CAMK2N1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000001.11:g.20482674A>G, NC_000001.10:g.20809167A>G, NM_018584.6:c.*975T>C, NM_018584.5:c.*975T>C

Select item 14876301536.

rs1487630153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:20484129 (GRCh38)
1:20810622 (GRCh37)
Canonical SPDI:: NC_000001.11:20484128:C:A
Gene:: CAMK2N1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.20484129C>A, NC_000001.10:g.20810622C>A

Select item 14875565957.

rs1487556595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:20485053 (GRCh38)
1:20811546 (GRCh37)
Canonical SPDI:: NC_000001.11:20485052:G:C
Gene:: CAMK2N1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.20485053G>C, NC_000001.10:g.20811546G>C

Select item 14866773448.

rs1486677344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:20487304 (GRCh38)
1:20813797 (GRCh37)
Canonical SPDI:: NC_000001.11:20487303:A:T
Gene:: CAMK2N1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.20487304A>T, NC_000001.10:g.20813797A>T

Select item 14860199599.

rs1486019959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:20485066 (GRCh38)
1:20811559 (GRCh37)
Canonical SPDI:: NC_000001.11:20485065:C:A,NC_000001.11:20485065:C:T
Gene:: CAMK2N1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.20485066C>A, NC_000001.11:g.20485066C>T, NC_000001.10:g.20811559C>A, NC_000001.10:g.20811559C>T

Select item 148598508110.

rs1485985081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:20484519 (GRCh38)
1:20811012 (GRCh37)
Canonical SPDI:: NC_000001.11:20484518:G:A,NC_000001.11:20484518:G:C
Gene:: CAMK2N1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.20484519G>A, NC_000001.11:g.20484519G>C, NC_000001.10:g.20811012G>A, NC_000001.10:g.20811012G>C

Select item 148595378811.

rs1485953788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:20485560 (GRCh38)
1:20812053 (GRCh37)
Canonical SPDI:: NC_000001.11:20485559:A:G
Gene:: CAMK2N1 (Varview)
Functional Consequence:: 5_prime_UTR_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_000001.11:g.20485560A>G, NC_000001.10:g.20812053A>G, NM_018584.6:c.-181T>C, NM_018584.5:c.-181T>C

Select item 148562840812.

rs1485628408 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:20485882 (GRCh38)
1:20812375 (GRCh37)
Canonical SPDI:: NC_000001.11:20485881:A:G
Gene:: CAMK2N1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
G=0.02125/60 (KOREAN)
HGVS:: NC_000001.11:g.20485882A>G, NC_000001.10:g.20812375A>G, NM_018584.6:c.-503T>C, NM_018584.5:c.-503T>C

Select item 148552779413.

rs1485527794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20485674 (GRCh38)
1:20812167 (GRCh37)
Canonical SPDI:: NC_000001.11:20485673:G:A
Gene:: CAMK2N1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.20485674G>A, NC_000001.10:g.20812167G>A, NM_018584.6:c.-295C>T, NM_018584.5:c.-295C>T

Select item 148546845814.

rs1485468458 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20485325 (GRCh38)
1:20811818 (GRCh37)
Canonical SPDI:: NC_000001.11:20485324:C:T
Gene:: CAMK2N1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.20485325C>T, NC_000001.10:g.20811818C>T, NM_018584.6:c.55G>A, NM_018584.5:c.55G>A, NP_061054.2:p.Gly19Ser

Select item 148471212215.

rs1484712122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:20485479 (GRCh38)
1:20811972 (GRCh37)
Canonical SPDI:: NC_000001.11:20485478:G:A,NC_000001.11:20485478:G:T
Gene:: CAMK2N1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.20485479G>A, NC_000001.11:g.20485479G>T, NC_000001.10:g.20811972G>A, NC_000001.10:g.20811972G>T, NM_018584.6:c.-100C>T, NM_018584.6:c.-100C>A, NM_018584.5:c.-100C>T, NM_018584.5:c.-100C>A

Select item 148457070716.

rs1484570707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20486705 (GRCh38)
1:20813198 (GRCh37)
Canonical SPDI:: NC_000001.11:20486704:C:T
Gene:: CAMK2N1 (Varview)
Functional Consequence:: upstream_transcript_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)
HGVS:: NC_000001.11:g.20486705C>T, NC_000001.10:g.20813198C>T

Select item 148454446217.

rs1484544462 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCCAAACGCGCGTCCTC [Show Flanks]
Chromosome:: 1:20484493 (GRCh38)
1:20810987 (GRCh37)
Canonical SPDI:: NC_000001.11:20484493:GCGTCCTCCCCAAACGCGCGTCCTC:GCGTCCTCCCCAAACGCGCGTCCTCCCCAAACGCGCGTCCTC
Gene:: CAMK2N1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GCGTCCTCCCCAAACGC=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.20484502_20484518dup, NC_000001.10:g.20810995_20811011dup

Select item 148415770918.

rs1484157709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20482339 (GRCh38)
1:20808832 (GRCh37)
Canonical SPDI:: NC_000001.11:20482338:G:A
Gene:: CAMK2N1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.20482339G>A, NC_000001.10:g.20808832G>A

Select item 148402526319.

rs1484025263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:20485476 (GRCh38)
1:20811969 (GRCh37)
Canonical SPDI:: NC_000001.11:20485475:G:C
Gene:: CAMK2N1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.20485476G>C, NC_000001.10:g.20811969G>C, NM_018584.6:c.-97C>G, NM_018584.5:c.-97C>G

Select item 148392214420.

rs1483922144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20486174 (GRCh38)
1:20812667 (GRCh37)
Canonical SPDI:: NC_000001.11:20486173:G:A
Gene:: CAMK2N1 (Varview)
Functional Consequence:: 5_prime_UTR_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_000001.11:g.20486174G>A, NC_000001.10:g.20812667G>A, NM_018584.6:c.-795C>T, NM_018584.5:c.-795C>T

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