SNP Links for Gene (Select 8548) - SNP

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Select item 14915807851.

rs1491580785 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:169367153 (GRCh38)
1:169336392 (GRCh37)
Canonical SPDI:: NC_000001.11:169367153:G:GG
Gene:: BLZF1 (Varview), NME7 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000001.11:g.169367154dup, NC_000001.10:g.169336392dup, NG_051763.1:g.5810dup

Select item 14915642082.

rs1491564208 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:169392672 (GRCh38)
1:169361910 (GRCh37)
Canonical SPDI:: NC_000001.11:169392671:TG:
Gene:: BLZF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.169392672_169392673del, NC_000001.10:g.169361910_169361911del

Select item 14915221133.

rs1491522113 has merged into rs398103353 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:169367154 (GRCh38)
1:169336392 (GRCh37)
Canonical SPDI:: NC_000001.11:169367152:AGA:A
Gene:: BLZF1 (Varview), NME7 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000169/2 (ALFA)
-=0.000211/28 (GnomAD)
-=0.130254/502 (ALSPAC)
-=0.137001/508 (TWINSUK)
HGVS:: NC_000001.11:g.169367154_169367155del, NC_000001.10:g.169336392_169336393del, NG_051763.1:g.5810_5811del

Select item 14913135484.

rs1491313548 has merged into rs34752276 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 1:169395887 (GRCh38)
1:169365125 (GRCh37)
Canonical SPDI:: NC_000001.11:169395878:TTTTTTTTTTTT:TTTTTTTT,NC_000001.11:169395878:TTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:169395878:TTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:169395878:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:169395878:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:169395878:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:169395878:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:169395878:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: BLZF1 (Varview), CCDC181 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.4197/732 (1000Genomes)
HGVS:: NC_000001.11:g.169395887_169395890del, NC_000001.11:g.169395888_169395890del, NC_000001.11:g.169395889_169395890del, NC_000001.11:g.169395890del, NC_000001.11:g.169395890dup, NC_000001.11:g.169395889_169395890dup, NC_000001.11:g.169395888_169395890dup, NC_000001.11:g.169395887_169395890dup, NC_000001.10:g.169365125_169365128del, NC_000001.10:g.169365126_169365128del, NC_000001.10:g.169365127_169365128del, NC_000001.10:g.169365128del, NC_000001.10:g.169365128dup, NC_000001.10:g.169365127_169365128dup, NC_000001.10:g.169365126_169365128dup, NC_000001.10:g.169365125_169365128dup

Select item 14912733915.

rs1491273391 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:169390123 (GRCh38)
1:169359361 (GRCh37)
Canonical SPDI:: NC_000001.11:169390122:TA:
Gene:: BLZF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.169390123_169390124del, NC_000001.10:g.169359361_169359362del

Select item 14912395636.

rs1491239563 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATATATACATATAAAACATATATATAAAA [Show Flanks]
Chromosome:: 1:169375355 (GRCh38)
1:169344594 (GRCh37)
Canonical SPDI:: NC_000001.11:169375355:AAAA:AAAACATATATACATATAAAACATATATATAAAA
Gene:: BLZF1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.169375356_169375359A[4]CATATATACATATAAAACATATATATAAAA[1], NC_000001.10:g.169344594_169344597A[4]CATATATACATATAAAACATATATATAAAA[1]

Select item 14911987777.

rs1491198777 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:169395877 (GRCh38)
1:169365116 (GRCh37)
Canonical SPDI:: NC_000001.11:169395877:G:GG
Gene:: BLZF1 (Varview), CCDC181 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000001.11:g.169395878dup, NC_000001.10:g.169365116dup

Select item 14911901498.

rs1491190149 has merged into rs142587239 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 1:169375359 (GRCh38)
1:169344597 (GRCh37)
Canonical SPDI:: NC_000001.11:169375354:AAAAAA:AAAA,NC_000001.11:169375354:AAAAAA:AAAAA,NC_000001.11:169375354:AAAAAA:AAAAAAA
Gene:: BLZF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0.39716/2742 (ALFA)
-=0.13929/251 (Korea1K)
-=0.18419/3086 (TOMMO)
A=0.29333/176 (NorthernSweden)
A=0.38116/1469 (ALSPAC)
A=0.38134/1414 (TWINSUK)
-=0.40256/2016 (1000Genomes)
A=0.43333/13 (GENOME_DK)
HGVS:: NC_000001.11:g.169375359_169375360del, NC_000001.11:g.169375360del, NC_000001.11:g.169375360dup, NC_000001.10:g.169344597_169344598del, NC_000001.10:g.169344598del, NC_000001.10:g.169344598dup

Select item 14910696259.

rs1491069625 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:169394968 (GRCh38)
1:169364207 (GRCh37)
Canonical SPDI:: NC_000001.11:169394968::C
Gene:: BLZF1 (Varview), CCDC181 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.006558/42 (1000Genomes)
C=0.006773/950 (GnomAD)
HGVS:: NC_000001.11:g.169394968_169394969insC, NC_000001.10:g.169364206_169364207insC, NM_021179.3:c.*78_*79insG, NM_021179.2:c.*78_*79insG, NM_021179.1:c.*78_*79insG, XM_017001938.2:c.*78_*79insG, XM_017001938.1:c.*78_*79insG, NM_001300969.2:c.*78_*79insG, NM_001300969.1:c.*78_*79insG, XM_005245383.1:c.*78_*79insG, NM_001300968.1:c.*78_*79insG, NM_001394007.1:c.*78_*79insG, NM_001394008.1:c.*78_*79insG

Select item 149070923610.

rs1490709236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:169381082 (GRCh38)
1:169350320 (GRCh37)
Canonical SPDI:: NC_000001.11:169381081:A:C
Gene:: BLZF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.169381082A>C, NC_000001.10:g.169350320A>C

Select item 149056499811.

rs1490564998 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:169371794 (GRCh38)
1:169341032 (GRCh37)
Canonical SPDI:: NC_000001.11:169371793:T:G
Gene:: BLZF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.169371794T>G, NC_000001.10:g.169341032T>G, NG_051763.1:g.1170A>C

Select item 149028981312.

rs1490289813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:169388305 (GRCh38)
1:169357543 (GRCh37)
Canonical SPDI:: NC_000001.11:169388304:A:G
Gene:: BLZF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_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.169388305A>G, NC_000001.10:g.169357543A>G, NM_001320973.2:c.*1123A>G, NM_001320973.1:c.*1123A>G

Select item 148992942913.

rs1489929429 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:169396900 (GRCh38)
1:169366138 (GRCh37)
Canonical SPDI:: NC_000001.11:169396899:T:C
Gene:: BLZF1 (Varview), CCDC181 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.169396900T>C, NC_000001.10:g.169366138T>C

Select item 148989064614.

rs1489890646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:169380512 (GRCh38)
1:169349750 (GRCh37)
Canonical SPDI:: NC_000001.11:169380511:G:C
Gene:: BLZF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.169380512G>C, NC_000001.10:g.169349750G>C, NM_003666.4:c.700G>C, NM_003666.3:c.700G>C, NM_003666.2:c.700G>C, NM_001320973.2:c.700G>C, NM_001320973.1:c.700G>C, NP_003657.1:p.Ala234Pro, NP_001307902.1:p.Ala234Pro

Select item 148976261015.

rs1489762610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:169372235 (GRCh38)
1:169341473 (GRCh37)
Canonical SPDI:: NC_000001.11:169372234:C:T
Gene:: BLZF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.169372235C>T, NC_000001.10:g.169341473C>T, NG_051763.1:g.729G>A

Select item 148971473716.

rs1489714737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:169378471 (GRCh38)
1:169347709 (GRCh37)
Canonical SPDI:: NC_000001.11:169378470:C:A
Gene:: BLZF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.169378471C>A, NC_000001.10:g.169347709C>A, NM_003666.4:c.610C>A, NM_003666.3:c.610C>A, NM_003666.2:c.610C>A, NM_001320973.2:c.610C>A, NM_001320973.1:c.610C>A, NP_003657.1:p.Gln204Lys, NP_001307902.1:p.Gln204Lys

Select item 148970377717.

rs1489703777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:169371054 (GRCh38)
1:169340292 (GRCh37)
Canonical SPDI:: NC_000001.11:169371053:A:G
Gene:: BLZF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.169371054A>G, NC_000001.10:g.169340292A>G, NG_051763.1:g.1910T>C

Select item 148926588618.

rs1489265886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:169388905 (GRCh38)
1:169358143 (GRCh37)
Canonical SPDI:: NC_000001.11:169388904:G:T
Gene:: BLZF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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.169388905G>T, NC_000001.10:g.169358143G>T

Select item 148914062519.

rs1489140625 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:169396137 (GRCh38)
1:169365376 (GRCh37)
Canonical SPDI:: NC_000001.11:169396137:A:AA
Gene:: BLZF1 (Varview), CCDC181 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.169396138dup, NC_000001.10:g.169365376dup, NM_003666.4:c.*272dup, NM_003666.3:c.*272dup, NM_003666.2:c.*272dup

Select item 148913821520.

rs1489138215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:169370719 (GRCh38)
1:169339957 (GRCh37)
Canonical SPDI:: NC_000001.11:169370718:C:T
Gene:: BLZF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.169370719C>T, NC_000001.10:g.169339957C>T, NG_051763.1:g.2245G>A