SNP Links for Gene (Select 388115) - SNP

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Select item 14909341471.

rs1490934147 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGTTCCTGTCCC>- [Show Flanks]
Chromosome:: 15:40330983 (GRCh38)
15:40623184 (GRCh37)
Canonical SPDI:: NC_000015.10:40330978:TCCCCAGTTCCTGTCCC:TCCC
Gene:: CCDC9B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.40330983_40330995del, NC_000015.9:g.40623184_40623196del

Select item 14908882612.

rs1490888261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:40331086 (GRCh38)
15:40623287 (GRCh37)
Canonical SPDI:: NC_000015.10:40331085:C:G,NC_000015.10:40331085:C:T
Gene:: CCDC9B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.40331086C>G, NC_000015.10:g.40331086C>T, NC_000015.9:g.40623287C>G, NC_000015.9:g.40623287C>T

Select item 14906807813.

rs1490680781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:40340820 (GRCh38)
15:40633021 (GRCh37)
Canonical SPDI:: NC_000015.10:40340819:G:A
Gene:: CCDC9B (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.40340820G>A, NC_000015.9:g.40633021G>A, NM_207380.3:c.-1C>T, NM_207380.2:c.132C>T

Select item 14899146404.

rs1489914640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:40336719 (GRCh38)
15:40628920 (GRCh37)
Canonical SPDI:: NC_000015.10:40336718:T:C
Gene:: CCDC9B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.40336719T>C, NC_000015.9:g.40628920T>C

Select item 14898994115.

rs1489899411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:40335521 (GRCh38)
15:40627722 (GRCh37)
Canonical SPDI:: NC_000015.10:40335520:C:T
Gene:: CCDC9B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.40335521C>T, NC_000015.9:g.40627722C>T, NM_207380.3:c.1110G>A, NM_207380.2:c.1242G>A

Select item 14896603166.

rs1489660316 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:40341752 (GRCh38)
15:40633953 (GRCh37)
Canonical SPDI:: NC_000015.10:40341751:A:G
Gene:: CCDC9B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.40341752A>G, NC_000015.9:g.40633953A>G

Select item 14895009167.

rs1489500916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:40335492 (GRCh38)
15:40627693 (GRCh37)
Canonical SPDI:: NC_000015.10:40335491:A:C
Gene:: CCDC9B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.40335492A>C, NC_000015.9:g.40627693A>C, NM_207380.3:c.1139T>G, NM_207380.2:c.1271T>G, NP_997263.3:p.Leu380Arg

Select item 14889827148.

rs1488982714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:40336516 (GRCh38)
15:40628717 (GRCh37)
Canonical SPDI:: NC_000015.10:40336515:T:C
Gene:: CCDC9B (Varview)
Functional Consequence:: intron_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_000015.10:g.40336516T>C, NC_000015.9:g.40628717T>C

Select item 14888654469.

rs1488865446 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:40337919 (GRCh38)
15:40630121 (GRCh37)
Canonical SPDI:: NC_000015.10:40337919:GGGGG:GGGGGG
Gene:: CCDC9B (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000015.10:g.40337924dup, NC_000015.9:g.40630125dup

Select item 148873464310.

rs1488734643 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGC>- [Show Flanks]
Chromosome:: 15:40332574 (GRCh38)
15:40624775 (GRCh37)
Canonical SPDI:: NC_000015.10:40332572:CGAGC:C
Gene:: CCDC9B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.40332574_40332577del, NC_000015.9:g.40624775_40624778del, NM_207380.3:c.*2582_*2585del, NM_207380.2:c.*2582_*2585del

Select item 148872253411.

rs1488722534 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:40331473 (GRCh38)
15:40623674 (GRCh37)
Canonical SPDI:: NC_000015.10:40331472:T:C
Gene:: CCDC9B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.40331473T>C, NC_000015.9:g.40623674T>C, NG_033561.1:g.276A>G, NM_207380.3:c.*3685A>G, NM_207380.2:c.*3685A>G

Select item 148828706512.

rs1488287065 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:40336373 (GRCh38)
15:40628574 (GRCh37)
Canonical SPDI:: NC_000015.10:40336372:A:G
Gene:: CCDC9B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.40336373A>G, NC_000015.9:g.40628574A>G

Select item 148806620813.

rs1488066208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:40332415 (GRCh38)
15:40624616 (GRCh37)
Canonical SPDI:: NC_000015.10:40332414:C:T
Gene:: CCDC9B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.40332415C>T, NC_000015.9:g.40624616C>T, NM_207380.3:c.*2743G>A, NM_207380.2:c.*2743G>A

Select item 148806615714.

rs1488066157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:40338296 (GRCh38)
15:40630497 (GRCh37)
Canonical SPDI:: NC_000015.10:40338295:A:G
Gene:: CCDC9B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.40338296A>G, NC_000015.9:g.40630497A>G

Select item 148774369015.

rs1487743690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:40337846 (GRCh38)
15:40630047 (GRCh37)
Canonical SPDI:: NC_000015.10:40337845:C:G,NC_000015.10:40337845:C:T
Gene:: CCDC9B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.00003/1 (ALFA)
HGVS:: NC_000015.10:g.40337846C>G, NC_000015.10:g.40337846C>T, NC_000015.9:g.40630047C>G, NC_000015.9:g.40630047C>T, NM_207380.3:c.561G>C, NM_207380.3:c.561G>A, NM_207380.2:c.693G>C, NM_207380.2:c.693G>A

Select item 148770915816.

rs1487709158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:40337341 (GRCh38)
15:40629542 (GRCh37)
Canonical SPDI:: NC_000015.10:40337340:G:A,NC_000015.10:40337340:G:C
Gene:: CCDC9B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.40337341G>A, NC_000015.10:g.40337341G>C, NC_000015.9:g.40629542G>A, NC_000015.9:g.40629542G>C

Select item 148770382617.

rs1487703826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:40340658 (GRCh38)
15:40632859 (GRCh37)
Canonical SPDI:: NC_000015.10:40340657:C:G
Gene:: CCDC9B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.40340658C>G, NC_000015.9:g.40632859C>G

Select item 148764972718.

rs1487649727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:40339695 (GRCh38)
15:40631896 (GRCh37)
Canonical SPDI:: NC_000015.10:40339694:C:A,NC_000015.10:40339694:C:G
Gene:: CCDC9B (Varview)
Functional Consequence:: intron_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_000015.10:g.40339695C>A, NC_000015.10:g.40339695C>G, NC_000015.9:g.40631896C>A, NC_000015.9:g.40631896C>G

Select item 148702736819.

rs1487027368 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:40331722 (GRCh38)
15:40623923 (GRCh37)
Canonical SPDI:: NC_000015.10:40331721:T:C
Gene:: CCDC9B (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000015.10:g.40331722T>C, NC_000015.9:g.40623923T>C, NG_033561.1:g.27A>G, NM_207380.3:c.*3436A>G, NM_207380.2:c.*3436A>G

Select item 148698671920.

rs1486986719 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 15:40334513 (GRCh38)
15:40626715 (GRCh37)
Canonical SPDI:: NC_000015.10:40334513:AA:AAAA
Gene:: CCDC9B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
AA=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.40334514_40334515dup, NC_000015.9:g.40626715_40626716dup, NM_207380.3:c.*643_*644dup, NM_207380.2:c.*643_*644dup

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