SNP Links for Gene (Select 64693) - SNP

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Items: 1 to 20 of 1939

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Select item 14901117991.

rs1490111799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:22416684 (GRCh38)
18:19996647 (GRCh37)
Canonical SPDI:: NC_000018.10:22416683:G:A,NC_000018.10:22416683:G:T
Gene:: CTAGE1 (Varview)
Functional Consequence:: synonymous_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.22416684G>A, NC_000018.10:g.22416684G>T, NC_000018.9:g.19996647G>A, NC_000018.9:g.19996647G>T, NW_014040928.1:g.28005G>A, NW_014040928.1:g.28005G>T, NM_172241.3:c.1128C>T, NM_172241.3:c.1128C>A, NM_172241.2:c.1128C>T, NM_172241.2:c.1128C>A, NP_758441.2:p.Cys376Ter

Select item 14899185872.

rs1489918587 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:22415080 (GRCh38)
18:19995043 (GRCh37)
Canonical SPDI:: NC_000018.10:22415079:A:G
Gene:: CTAGE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000018.10:g.22415080A>G, NC_000018.9:g.19995043A>G, NW_014040928.1:g.26401A>G, NM_172241.3:c.*494T>C, NM_172241.2:c.*494T>C

Select item 14896355333.

rs1489635533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:22413120 (GRCh38)
18:19993083 (GRCh37)
Canonical SPDI:: NC_000018.10:22413119:C:T
Gene:: CTAGE1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000018.10:g.22413120C>T, NC_000018.9:g.19993083C>T, NW_014040928.1:g.24441C>T

Select item 14895819464.

rs1489581946 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 18:22415032 (GRCh38)
18:19994995 (GRCh37)
Canonical SPDI:: NC_000018.10:22415031:T:
Gene:: CTAGE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000018.10:g.22415032del, NC_000018.9:g.19994995del, NW_014040928.1:g.26353del, NM_172241.3:c.*542del, NM_172241.2:c.*542del

Select item 14894966225.

rs1489496622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:22415594 (GRCh38)
18:19995557 (GRCh37)
Canonical SPDI:: NC_000018.10:22415593:G:A,NC_000018.10:22415593:G:T
Gene:: CTAGE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.22415594G>A, NC_000018.10:g.22415594G>T, NC_000018.9:g.19995557G>A, NC_000018.9:g.19995557G>T, NW_014040928.1:g.26915G>A, NW_014040928.1:g.26915G>T, NM_172241.3:c.2218C>T, NM_172241.3:c.2218C>A, NM_172241.2:c.2218C>T, NM_172241.2:c.2218C>A, NP_758441.2:p.Pro740Ser, NP_758441.2:p.Pro740Thr

Select item 14891519566.

rs1489151956 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 18:22419047 (GRCh38)
18:19999010 (GRCh37)
Canonical SPDI:: NC_000018.10:22419046:CCCC:CCC
Gene:: CTAGE1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0.000447/2 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000018.10:g.22419050del, NC_000018.9:g.19999013del, NG_022482.2:g.354del, NW_014040928.1:g.30371del

Select item 14886000687.

rs1488600068 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:22414025 (GRCh38)
18:19993988 (GRCh37)
Canonical SPDI:: NC_000018.10:22414024:C:A,NC_000018.10:22414024:C:T
Gene:: CTAGE1 (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_000018.10:g.22414025C>A, NC_000018.10:g.22414025C>T, NC_000018.9:g.19993988C>A, NC_000018.9:g.19993988C>T, NW_014040928.1:g.25346C>A, NW_014040928.1:g.25346C>T, NM_172241.3:c.*1549G>T, NM_172241.3:c.*1549G>A, NM_172241.2:c.*1549G>T, NM_172241.2:c.*1549G>A, NM_022663.1:c.*605G>T, NM_022663.1:c.*605G>A

Select item 14885764888.

rs1488576488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:22414600 (GRCh38)
18:19994563 (GRCh37)
Canonical SPDI:: NC_000018.10:22414599:G:C
Gene:: CTAGE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000018.10:g.22414600G>C, NC_000018.9:g.19994563G>C, NW_014040928.1:g.25921G>C, NM_172241.3:c.*974C>G, NM_172241.2:c.*974C>G, NM_022663.1:c.*30C>G

Select item 14882360259.

rs1488236025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:22417757 (GRCh38)
18:19997720 (GRCh37)
Canonical SPDI:: NC_000018.10:22417756:C:T
Gene:: CTAGE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.22417757C>T, NC_000018.9:g.19997720C>T, NW_014040928.1:g.29078C>T, NM_172241.3:c.55G>A, NM_172241.2:c.55G>A, NP_758441.2:p.Ala19Thr

Select item 148813675210.

rs1488136752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:22416031 (GRCh38)
18:19995994 (GRCh37)
Canonical SPDI:: NC_000018.10:22416030:T:C
Gene:: CTAGE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.22416031T>C, NC_000018.9:g.19995994T>C, NW_014040928.1:g.27352T>C, NM_172241.3:c.1781A>G, NM_172241.2:c.1781A>G, NP_758441.2:p.Asp594Gly

Select item 148799823111.

rs1487998231 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:22414696 (GRCh38)
18:19994659 (GRCh37)
Canonical SPDI:: NC_000018.10:22414695:T:C
Gene:: CTAGE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.22414696T>C, NC_000018.9:g.19994659T>C, NW_014040928.1:g.26017T>C, NM_172241.3:c.*878A>G, NM_172241.2:c.*878A>G, NM_022663.1:c.159A>G

Select item 148754331512.

rs1487543315 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:22414768 (GRCh38)
18:19994731 (GRCh37)
Canonical SPDI:: NC_000018.10:22414767:A:G
Gene:: CTAGE1 (Varview)
Functional Consequence:: 3_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_000018.10:g.22414768A>G, NC_000018.9:g.19994731A>G, NW_014040928.1:g.26089A>G, NM_172241.3:c.*806T>C, NM_172241.2:c.*806T>C, NM_022663.1:c.87T>C

Select item 148649668013.

rs1486496680 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:22416304 (GRCh38)
18:19996267 (GRCh37)
Canonical SPDI:: NC_000018.10:22416303:G:A
Gene:: CTAGE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.22416304G>A, NC_000018.9:g.19996267G>A, NW_014040928.1:g.27625G>A, NM_172241.3:c.1508C>T, NM_172241.2:c.1508C>T, NP_758441.2:p.Ser503Phe

Select item 148633427114.

rs1486334271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:22416358 (GRCh38)
18:19996321 (GRCh37)
Canonical SPDI:: NC_000018.10:22416357:T:C
Gene:: CTAGE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.22416358T>C, NC_000018.9:g.19996321T>C, NW_014040928.1:g.27679T>C, NM_172241.3:c.1454A>G, NM_172241.2:c.1454A>G, NP_758441.2:p.His485Arg

Select item 148620674315.

rs1486206743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:22419600 (GRCh38)
18:19999563 (GRCh37)
Canonical SPDI:: NC_000018.10:22419599:G:A
Gene:: CTAGE1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.22419600G>A, NC_000018.9:g.19999563G>A, NW_014040928.1:g.30921G>A

Select item 148603958116.

rs1486039581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:22415791 (GRCh38)
18:19995754 (GRCh37)
Canonical SPDI:: NC_000018.10:22415790:G:A
Gene:: CTAGE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.22415791G>A, NC_000018.9:g.19995754G>A, NW_014040928.1:g.27112G>A, NM_172241.3:c.2021C>T, NM_172241.2:c.2021C>T, NP_758441.2:p.Pro674Leu

Select item 148601893917.

rs1486018939 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:22418815 (GRCh38)
18:19998778 (GRCh37)
Canonical SPDI:: NC_000018.10:22418814:T:C
Gene:: CTAGE1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.22418815T>C, NC_000018.9:g.19998778T>C, NG_022482.2:g.586A>G, NW_014040928.1:g.30136T>C

Select item 148556291918.

rs1485562919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:22413938 (GRCh38)
18:19993901 (GRCh37)
Canonical SPDI:: NC_000018.10:22413937:A:C
Gene:: CTAGE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.22413938A>C, NC_000018.9:g.19993901A>C, NW_014040928.1:g.25259A>C, NM_172241.3:c.*1636T>G, NM_172241.2:c.*1636T>G, NM_022663.1:c.*692T>G

Select item 148549475319.

rs1485494753 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:22413751 (GRCh38)
18:19993714 (GRCh37)
Canonical SPDI:: NC_000018.10:22413750:T:C
Gene:: CTAGE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000018.10:g.22413751T>C, NC_000018.9:g.19993714T>C, NW_014040928.1:g.25072T>C, NM_172241.3:c.*1823A>G, NM_172241.2:c.*1823A>G, NM_022663.1:c.*879A>G

Select item 148457876420.

rs1484578764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:22413506 (GRCh38)
18:19993469 (GRCh37)
Canonical SPDI:: NC_000018.10:22413505:G:A
Gene:: CTAGE1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.22413506G>A, NC_000018.9:g.19993469G>A, NW_014040928.1:g.24827G>A

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