SNP Links for Gene (Select 255783) - SNP

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Select item 14915641401.

rs1491564140 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:47273092 (GRCh38)
19:47776350 (GRCh37)
Canonical SPDI:: NC_000019.10:47273092:T:TT
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000015/2 (GnomAD)
HGVS:: NC_000019.10:g.47273093dup, NC_000019.9:g.47776350dup

Select item 14907956532.

rs1490795653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47274294 (GRCh38)
19:47777551 (GRCh37)
Canonical SPDI:: NC_000019.10:47274293:C:T
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000038/5 (GnomAD)
HGVS:: NC_000019.10:g.47274294C>T, NC_000019.9:g.47777551C>T, XM_047438583.1:c.*311C>T

Select item 14905136833.

rs1490513683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:47275500 (GRCh38)
19:47778757 (GRCh37)
Canonical SPDI:: NC_000019.10:47275499:G:T
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,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_000019.10:g.47275500G>T, NC_000019.9:g.47778757G>T, NM_178511.6:c.*152G>T, NM_178511.5:c.*152G>T, NR_037675.2:n.530G>T, NR_037675.1:n.551G>T, XM_047438583.1:c.*1517G>T, NR_002797.1:n.584G>T

Select item 14900214274.

rs1490021427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:47275752 (GRCh38)
19:47779009 (GRCh37)
Canonical SPDI:: NC_000019.10:47275751:G:T
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.47275752G>T, NC_000019.9:g.47779009G>T

Select item 14888596135.

rs1488859613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:47275709 (GRCh38)
19:47778966 (GRCh37)
Canonical SPDI:: NC_000019.10:47275708:G:A,NC_000019.10:47275708:G:T
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.47275709G>A, NC_000019.10:g.47275709G>T, NC_000019.9:g.47778966G>A, NC_000019.9:g.47778966G>T, NM_178511.6:c.*361G>A, NM_178511.6:c.*361G>T, NM_178511.5:c.*361G>A, NM_178511.5:c.*361G>T, NR_037675.2:n.739G>A, NR_037675.2:n.739G>T, NR_037675.1:n.760G>A, NR_037675.1:n.760G>T, XM_047438583.1:c.*1726G>A, XM_047438583.1:c.*1726G>T, NR_002797.1:n.793G>A, NR_002797.1:n.793G>T

Select item 14888143916.

rs1488814391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47274517 (GRCh38)
19:47777774 (GRCh37)
Canonical SPDI:: NC_000019.10:47274516:C:T
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.47274517C>T, NC_000019.9:g.47777774C>T, XM_047438583.1:c.*534C>T

Select item 14887037797.

rs1488703779 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 19:47274688 (GRCh38)
19:47777945 (GRCh37)
Canonical SPDI:: NC_000019.10:47274687:C:
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000019.10:g.47274688del, NC_000019.9:g.47777945del, XM_047438583.1:c.*705del

Select item 14883757218.

rs1488375721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47275712 (GRCh38)
19:47778969 (GRCh37)
Canonical SPDI:: NC_000019.10:47275711:C:T
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_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_000019.10:g.47275712C>T, NC_000019.9:g.47778969C>T, NM_178511.6:c.*364C>T, NM_178511.5:c.*364C>T, NR_037675.2:n.742C>T, NR_037675.1:n.763C>T, XM_047438583.1:c.*1729C>T, NR_002797.1:n.796C>T

Select item 14882098929.

rs1488209892 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCACAC>- [Show Flanks]
Chromosome:: 19:47273129 (GRCh38)
19:47776386 (GRCh37)
Canonical SPDI:: NC_000019.10:47273127:CGCCACAC:C
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.47273129_47273135del, NC_000019.9:g.47776386_47776392del

Select item 148820888810.

rs1488208888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:47274708 (GRCh38)
19:47777965 (GRCh37)
Canonical SPDI:: NC_000019.10:47274707:T:C,NC_000019.10:47274707:T:G
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.052448/120 (KOREAN)
HGVS:: NC_000019.10:g.47274708T>C, NC_000019.10:g.47274708T>G, NC_000019.9:g.47777965T>C, NC_000019.9:g.47777965T>G, XM_047438583.1:c.*725T>C, XM_047438583.1:c.*725T>G

Select item 148800128311.

rs1488001283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47272739 (GRCh38)
19:47775996 (GRCh37)
Canonical SPDI:: NC_000019.10:47272738:G:A
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_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_000019.10:g.47272739G>A, NC_000019.9:g.47775996G>A

Select item 148645525712.

rs1486455257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47273173 (GRCh38)
19:47776430 (GRCh37)
Canonical SPDI:: NC_000019.10:47273172:G:A
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.47273173G>A, NC_000019.9:g.47776430G>A

Select item 148643826913.

rs1486438269 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:47275239 (GRCh38)
19:47778496 (GRCh37)
Canonical SPDI:: NC_000019.10:47275238:T:C
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
HGVS:: NC_000019.10:g.47275239T>C, NC_000019.9:g.47778496T>C, NM_178511.6:c.320T>C, NM_178511.5:c.320T>C, NR_037675.2:n.269T>C, NR_037675.1:n.290T>C, XM_047438583.1:c.*1256T>C, NR_002797.1:n.323T>C, NP_848606.3:p.Leu107Pro

Select item 148573361014.

rs1485733610 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTCTCTCC [Show Flanks]
Chromosome:: 19:47273341 (GRCh38)
19:47776599 (GRCh37)
Canonical SPDI:: NC_000019.10:47273341:CCCTTCTCTCC:CCCTTCTCTCCCTTCTCTCC
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCTTCTCTCCCTTCTCTCC=0./0 (ALFA)
CCCTTCTCT=0./0 (Korea1K)
CCCTTCTCT=0.000008/2 (TOPMED)
CCCTTCTCT=0.000021/3 (GnomAD)
CCCTTCTCT=0.003043/51 (TOMMO)
HGVS:: NC_000019.10:g.47273344_47273352dup, NC_000019.9:g.47776601_47776609dup

Select item 148546001615.

rs1485460016 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:47272905 (GRCh38)
19:47776162 (GRCh37)
Canonical SPDI:: NC_000019.10:47272904:CA:
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.47272905_47272906del, NC_000019.9:g.47776162_47776163del

Select item 148453742716.

rs1484537427 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:47275584 (GRCh38)
19:47778842 (GRCh37)
Canonical SPDI:: NC_000019.10:47275584:T:TT
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.47275585dup, NC_000019.9:g.47778842dup, NM_178511.6:c.*237dup, NM_178511.5:c.*237dup, NR_037675.2:n.615dup, NR_037675.1:n.636dup, XM_047438583.1:c.*1602dup, NR_002797.1:n.669dup

Select item 148389597717.

rs1483895977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:47275445 (GRCh38)
19:47778702 (GRCh37)
Canonical SPDI:: NC_000019.10:47275444:A:C,NC_000019.10:47275444:A:G
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.47275445A>C, NC_000019.10:g.47275445A>G, NC_000019.9:g.47778702A>C, NC_000019.9:g.47778702A>G, NM_178511.6:c.*97A>C, NM_178511.6:c.*97A>G, NM_178511.5:c.*97A>C, NM_178511.5:c.*97A>G, NR_037675.2:n.475A>C, NR_037675.2:n.475A>G, NR_037675.1:n.496A>C, NR_037675.1:n.496A>G, XM_047438583.1:c.*1462A>C, XM_047438583.1:c.*1462A>G, NR_002797.1:n.529A>C, NR_002797.1:n.529A>G

Select item 148360742918.

rs1483607429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:47275195 (GRCh38)
19:47778452 (GRCh37)
Canonical SPDI:: NC_000019.10:47275194:C:G,NC_000019.10:47275194:C:T
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000032/3 (GnomAD_exomes)
G=0.000086/12 (GnomAD)
HGVS:: NC_000019.10:g.47275195C>G, NC_000019.10:g.47275195C>T, NC_000019.9:g.47778452C>G, NC_000019.9:g.47778452C>T, NM_178511.6:c.276C>G, NM_178511.6:c.276C>T, NM_178511.5:c.276C>G, NM_178511.5:c.276C>T, NR_037675.2:n.225C>G, NR_037675.2:n.225C>T, NR_037675.1:n.246C>G, NR_037675.1:n.246C>T, XM_047438583.1:c.*1212C>G, XM_047438583.1:c.*1212C>T, NR_002797.1:n.279C>G, NR_002797.1:n.279C>T

Select item 148329578819.

rs1483295788 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:47272791 (GRCh38)
19:47776048 (GRCh37)
Canonical SPDI:: NC_000019.10:47272790:T:G
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
G=0.000071/2 (TOMMO)
HGVS:: NC_000019.10:g.47272791T>G, NC_000019.9:g.47776048T>G

Select item 148317537820.

rs1483175378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:47274593 (GRCh38)
19:47777850 (GRCh37)
Canonical SPDI:: NC_000019.10:47274592:G:A,NC_000019.10:47274592:G:C
Gene:: CCDC9 (Varview), INAFM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.47274593G>A, NC_000019.10:g.47274593G>C, NC_000019.9:g.47777850G>A, NC_000019.9:g.47777850G>C, XM_047438583.1:c.*610G>A, XM_047438583.1:c.*610G>C

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