SNP Links for Gene (Select 57003) - SNP

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Select item 14915834151.

rs1491583415 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 17:63771006 (GRCh38)
17:61848366 (GRCh37)
Canonical SPDI:: NC_000017.11:63771004:AAA:A
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000017.11:g.63771006_63771007del, NC_000017.10:g.61848366_61848367del

Select item 14915762452.

rs1491576245 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:63755923 (GRCh38)
17:61833283 (GRCh37)
Canonical SPDI:: NC_000017.11:63755922:CA:
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00354/42 (ALFA)
-=0.00219/62 (TOMMO)
HGVS:: NC_000017.11:g.63755923_63755924del, NC_000017.10:g.61833283_61833284del

Select item 14912148313.

rs1491214831 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAG,GAAGGAAG,GAAGGAAGGAAG,GAAGGAAGGAAGGAAG,GAAGGAAGGAAGGAAGGAAG [Show Flanks]
Chromosome:: 17:63771005 (GRCh38)
17:61848366 (GRCh37)
Canonical SPDI:: NC_000017.11:63771005:AAG:AAGGAAG,NC_000017.11:63771005:AAG:AAGGAAGGAAG,NC_000017.11:63771005:AAG:AAGGAAGGAAGGAAG,NC_000017.11:63771005:AAG:AAGGAAGGAAGGAAGGAAG,NC_000017.11:63771005:AAG:AAGGAAGGAAGGAAGGAAGGAAG
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAGGAAGGAAG=0./0 (ALFA)
HGVS:: NC_000017.11:g.63771008_63771009insGAAG, NC_000017.11:g.63771008_63771009insGAAGGAAG, NC_000017.11:g.63771009GAAG[3], NC_000017.11:g.63771009GAAG[4], NC_000017.11:g.63771009GAAG[5], NC_000017.10:g.61848368_61848369insGAAG, NC_000017.10:g.61848368_61848369insGAAGGAAG, NC_000017.10:g.61848369GAAG[3], NC_000017.10:g.61848369GAAG[4], NC_000017.10:g.61848369GAAG[5]

Select item 14911691384.

rs1491169138 has merged into rs59036340 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:63755935 (GRCh38)
17:61833295 (GRCh37)
Canonical SPDI:: NC_000017.11:63755923:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:63755923:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:63755923:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:63755923:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:63755923:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:63755923:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:63755923:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:63755923:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:63755923:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:63755923:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2121/112 (NorthernSweden)
-=0.4806/2407 (1000Genomes)
HGVS:: NC_000017.11:g.63755935_63755941del, NC_000017.11:g.63755937_63755941del, NC_000017.11:g.63755938_63755941del, NC_000017.11:g.63755939_63755941del, NC_000017.11:g.63755940_63755941del, NC_000017.11:g.63755941del, NC_000017.11:g.63755941dup, NC_000017.11:g.63755940_63755941dup, NC_000017.11:g.63755936_63755941dup, NC_000017.11:g.63755928_63755941dup, NC_000017.10:g.61833295_61833301del, NC_000017.10:g.61833297_61833301del, NC_000017.10:g.61833298_61833301del, NC_000017.10:g.61833299_61833301del, NC_000017.10:g.61833300_61833301del, NC_000017.10:g.61833301del, NC_000017.10:g.61833301dup, NC_000017.10:g.61833300_61833301dup, NC_000017.10:g.61833296_61833301dup, NC_000017.10:g.61833288_61833301dup

Select item 14910661785.

rs1491066178 has merged into rs71155982 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:63750599 (GRCh38)
17:61827959 (GRCh37)
Canonical SPDI:: NC_000017.11:63750590:TTTTTTTTTTTT:TTTTTTTT,NC_000017.11:63750590:TTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:63750590:TTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:63750590:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:63750590:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:63750590:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:63750590:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:63750590:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.01624/104 (1000Genomes)
T=0.05/2 (GENOME_DK)
T=0.05833/35 (NorthernSweden)
HGVS:: NC_000017.11:g.63750599_63750602del, NC_000017.11:g.63750600_63750602del, NC_000017.11:g.63750601_63750602del, NC_000017.11:g.63750602del, NC_000017.11:g.63750602dup, NC_000017.11:g.63750601_63750602dup, NC_000017.11:g.63750600_63750602dup, NC_000017.11:g.63750594_63750602dup, NC_000017.10:g.61827959_61827962del, NC_000017.10:g.61827960_61827962del, NC_000017.10:g.61827961_61827962del, NC_000017.10:g.61827962del, NC_000017.10:g.61827962dup, NC_000017.10:g.61827961_61827962dup, NC_000017.10:g.61827960_61827962dup, NC_000017.10:g.61827954_61827962dup

Select item 14910593416.

rs1491059341 has merged into rs397857898 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:63769970 (GRCh38)
17:61847330 (GRCh37)
Canonical SPDI:: NC_000017.11:63769961:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:63769961:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:63769961:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:63769961:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:63769961:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:63769961:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:63769961:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:63769961:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:63769961:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:63769961:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:63769961:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:63769961:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:63769961:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.4914/2461 (1000Genomes)
HGVS:: NC_000017.11:g.63769970_63769978del, NC_000017.11:g.63769973_63769978del, NC_000017.11:g.63769974_63769978del, NC_000017.11:g.63769975_63769978del, NC_000017.11:g.63769976_63769978del, NC_000017.11:g.63769977_63769978del, NC_000017.11:g.63769978del, NC_000017.11:g.63769978dup, NC_000017.11:g.63769977_63769978dup, NC_000017.11:g.63769976_63769978dup, NC_000017.11:g.63769975_63769978dup, NC_000017.11:g.63769974_63769978dup, NC_000017.11:g.63769971_63769978dup, NC_000017.10:g.61847330_61847338del, NC_000017.10:g.61847333_61847338del, NC_000017.10:g.61847334_61847338del, NC_000017.10:g.61847335_61847338del, NC_000017.10:g.61847336_61847338del, NC_000017.10:g.61847337_61847338del, NC_000017.10:g.61847338del, NC_000017.10:g.61847338dup, NC_000017.10:g.61847337_61847338dup, NC_000017.10:g.61847336_61847338dup, NC_000017.10:g.61847335_61847338dup, NC_000017.10:g.61847334_61847338dup, NC_000017.10:g.61847331_61847338dup

Select item 14910425037.

rs1491042503 has merged into rs781702378 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:63771000 (GRCh38)
17:61848360 (GRCh37)
Canonical SPDI:: NC_000017.11:63770998:AGA:A
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00034/4 (ALFA)
-=0.00032/5 (TOMMO)
-=0.00109/75 (GnomAD)
HGVS:: NC_000017.11:g.63771000_63771001del, NC_000017.10:g.61848360_61848361del

Select item 14909356808.

rs1490935680 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:63775618 (GRCh38)
17:61852978 (GRCh37)
Canonical SPDI:: NC_000017.11:63775617:A:G
Gene:: DDX42 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000034/9 (TOPMED)
G=0.000248/4 (TOMMO)
G=0.001369/4 (KOREAN)
G=0.003821/7 (Korea1K)
HGVS:: NC_000017.11:g.63775618A>G, NC_000017.10:g.61852978A>G

Select item 14909221299.

rs1490922129 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:63765037 (GRCh38)
17:61842397 (GRCh37)
Canonical SPDI:: NC_000017.11:63765036:A:C
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.63765037A>C, NC_000017.10:g.61842397A>C

Select item 149064850210.

rs1490648502 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:63771274 (GRCh38)
17:61848634 (GRCh37)
Canonical SPDI:: NC_000017.11:63771273:T:C
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_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_000017.11:g.63771274T>C, NC_000017.10:g.61848634T>C

Select item 149061334211.

rs1490613342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:63756421 (GRCh38)
17:61833781 (GRCh37)
Canonical SPDI:: NC_000017.11:63756420:A:G
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.63756421A>G, NC_000017.10:g.61833781A>G

Select item 149056155112.

rs1490561551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:63752916 (GRCh38)
17:61830276 (GRCh37)
Canonical SPDI:: NC_000017.11:63752915:G:A
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.63752916G>A, NC_000017.10:g.61830276G>A

Select item 149050839113.

rs1490508391 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:63771007 (GRCh38)
17:61848368 (GRCh37)
Canonical SPDI:: NC_000017.11:63771007:G:GG
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.003688/422 (GnomAD)
G=0.007027/45 (1000Genomes)
HGVS:: NC_000017.11:g.63771008dup, NC_000017.10:g.61848368dup

Select item 149037328414.

rs1490373284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:63769429 (GRCh38)
17:61846789 (GRCh37)
Canonical SPDI:: NC_000017.11:63769428:C:A
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.63769429C>A, NC_000017.10:g.61846789C>A

Select item 149031957915.

rs1490319579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:63770889 (GRCh38)
17:61848249 (GRCh37)
Canonical SPDI:: NC_000017.11:63770888:G:C
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.63770889G>C, NC_000017.10:g.61848249G>C

Select item 149028558316.

rs1490285583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:63752129 (GRCh38)
17:61829489 (GRCh37)
Canonical SPDI:: NC_000017.11:63752128:T:C
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.63752129T>C, NC_000017.10:g.61829489T>C

Select item 149012807317.

rs1490128073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:63755335 (GRCh38)
17:61832695 (GRCh37)
Canonical SPDI:: NC_000017.11:63755334:C:G
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.63755335C>G, NC_000017.10:g.61832695C>G

Select item 149004504418.

rs1490045044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:63767064 (GRCh38)
17:61844424 (GRCh37)
Canonical SPDI:: NC_000017.11:63767063:C:T
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.63767064C>T, NC_000017.10:g.61844424C>T

Select item 149002926019.

rs1490029260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:63764338 (GRCh38)
17:61841698 (GRCh37)
Canonical SPDI:: NC_000017.11:63764337:C:A
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.63764338C>A, NC_000017.10:g.61841698C>A

Select item 148998264920.

rs1489982649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:63747582 (GRCh38)
17:61824942 (GRCh37)
Canonical SPDI:: NC_000017.11:63747581:G:A
Gene:: CCDC47 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.63747582G>A, NC_000017.10:g.61824942G>A

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