SNP Links for Gene (Select 11092) - SNP

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Select item 14915357481.

rs1491535748 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:132889955 (GRCh38)
9:135765343 (GRCh37)
Canonical SPDI:: NC_000009.12:132889955:GGGG:GGGGG
Gene:: SPACA9 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant,splice_acceptor_variant,coding_sequence_variant
HGVS:: NC_000009.12:g.132889959dup, NC_000009.11:g.135765346dup, NG_012386.1:g.59678dup, XM_024447396.2:c.*1348dup, XM_024447396.1:c.*1348dup, NM_001316897.2:c.*1348dup, NM_001316897.1:c.*1348dup, NM_001316898.2:c.*1348dup, NM_001316898.1:c.*1348dup, NR_133631.2:n.1944dup, NR_133631.1:n.1968dup

Select item 14914480872.

rs1491448087 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:132885165 (GRCh38)
9:135760552 (GRCh37)
Canonical SPDI:: NC_000009.12:132885164:CT:
Gene:: SPACA9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.132885165_132885166del, NC_000009.11:g.135760552_135760553del

Select item 14911185433.

rs1491118543 has merged into rs901997406 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 9:132885173 (GRCh38)
9:135760560 (GRCh37)
Canonical SPDI:: NC_000009.12:132885165:TTTTTTTTT:TTTTTTT,NC_000009.12:132885165:TTTTTTTTT:TTTTTTTT,NC_000009.12:132885165:TTTTTTTTT:TTTTTTTTTT
Gene:: SPACA9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.00022/1 (Estonian)
T=0.00055/1 (Korea1K)
T=0.00078/13 (TOMMO)
HGVS:: NC_000009.12:g.132885173_132885174del, NC_000009.12:g.132885174del, NC_000009.12:g.132885174dup, NC_000009.11:g.135760560_135760561del, NC_000009.11:g.135760561del, NC_000009.11:g.135760561dup

Select item 14911050274.

rs1491105027 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 9:132887135 (GRCh38)
9:135762522 (GRCh37)
Canonical SPDI:: NC_000009.12:132887132:ATAT:AT
Gene:: SPACA9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
HGVS:: NC_000009.12:g.132887133AT[1], NC_000009.11:g.135762520AT[1]

Select item 14909130655.

rs1490913065 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:132881340 (GRCh38)
9:135756727 (GRCh37)
Canonical SPDI:: NC_000009.12:132881339:T:C
Gene:: SPACA9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000015/2 (GnomAD)
HGVS:: NC_000009.12:g.132881340T>C, NC_000009.11:g.135756727T>C

Select item 14908473496.

rs1490847349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:132878983 (GRCh38)
9:135754370 (GRCh37)
Canonical SPDI:: NC_000009.12:132878982:G:A
Gene:: SPACA9 (Varview), AK8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_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_000009.12:g.132878983G>A, NC_000009.11:g.135754370G>A, NM_018956.5:c.-69G>A, NM_018956.4:c.-69G>A, NM_018956.3:c.-69G>A, XM_024447396.2:c.-122G>A, XM_024447396.1:c.-122G>A, NM_001316897.2:c.-69G>A, NM_001316897.1:c.-69G>A, XM_017014231.2:c.-69G>A, XM_017014231.1:c.-69G>A, NM_001316900.2:c.-69G>A, NM_001316900.1:c.-69G>A, NM_001371773.1:c.-650C>T, NM_001371771.1:c.-33C>T, XM_047422697.1:c.-122G>A

Select item 14908463287.

rs1490846328 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:132877495 (GRCh38)
9:135752882 (GRCh37)
Canonical SPDI:: NC_000009.12:132877494:C:T
Gene:: SPACA9 (Varview), AK8 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.132877495C>T, NC_000009.11:g.135752882C>T

Select item 14908314718.

rs1490831471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:132878339 (GRCh38)
9:135753726 (GRCh37)
Canonical SPDI:: NC_000009.12:132878338:C:A
Gene:: SPACA9 (Varview), AK8 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_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_000009.12:g.132878339C>A, NC_000009.11:g.135753726C>A, NM_152572.2:c.-84G>T, NM_001317959.1:c.-993G>T, NM_001316898.1:c.-135C>A, NM_001317958.1:c.-703G>T, NR_133631.1:n.20C>A

Select item 14904239129.

rs1490423912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:132882374 (GRCh38)
9:135757761 (GRCh37)
Canonical SPDI:: NC_000009.12:132882373:C:T
Gene:: SPACA9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000072/19 (TOPMED)
T=0.000078/11 (GnomAD)
HGVS:: NC_000009.12:g.132882374C>T, NC_000009.11:g.135757761C>T

Select item 149035776810.

rs1490357768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:132880082 (GRCh38)
9:135755469 (GRCh37)
Canonical SPDI:: NC_000009.12:132880081:C:T
Gene:: SPACA9 (Varview), AK8 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000009.12:g.132880082C>T, NC_000009.11:g.135755469C>T

Select item 149018774611.

rs1490187746 has merged into rs900840677 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:132880831 (GRCh38)
9:135756218 (GRCh37)
Canonical SPDI:: NC_000009.12:132880822:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:132880822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:132880822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:132880822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:132880822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:132880822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:132880822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:132880822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: SPACA9 (Varview), AK8 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.132880831_132880840del, NC_000009.12:g.132880836_132880840del, NC_000009.12:g.132880838_132880840del, NC_000009.12:g.132880839_132880840del, NC_000009.12:g.132880840del, NC_000009.12:g.132880840dup, NC_000009.12:g.132880839_132880840dup, NC_000009.12:g.132880838_132880840dup, NC_000009.11:g.135756218_135756227del, NC_000009.11:g.135756223_135756227del, NC_000009.11:g.135756225_135756227del, NC_000009.11:g.135756226_135756227del, NC_000009.11:g.135756227del, NC_000009.11:g.135756227dup, NC_000009.11:g.135756226_135756227dup, NC_000009.11:g.135756225_135756227dup

Select item 148990860312.

rs1489908603 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:132885141 (GRCh38)
9:135760528 (GRCh37)
Canonical SPDI:: NC_000009.12:132885140:A:G
Gene:: SPACA9 (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_000009.12:g.132885141A>G, NC_000009.11:g.135760528A>G

Select item 148942400613.

rs1489424006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:132878015 (GRCh38)
9:135753402 (GRCh37)
Canonical SPDI:: NC_000009.12:132878014:C:A
Gene:: SPACA9 (Varview), AK8 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.132878015C>A, NC_000009.11:g.135753402C>A

Select item 148902808014.

rs1489028080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:132883738 (GRCh38)
9:135759125 (GRCh37)
Canonical SPDI:: NC_000009.12:132883737:C:T
Gene:: SPACA9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.132883738C>T, NC_000009.11:g.135759125C>T

Select item 148873783915.

rs1488737839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:132882690 (GRCh38)
9:135758077 (GRCh37)
Canonical SPDI:: NC_000009.12:132882689:T:C
Gene:: SPACA9 (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_000009.12:g.132882690T>C, NC_000009.11:g.135758077T>C

Select item 148872430416.

rs1488724304 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:132883721 (GRCh38)
9:135759108 (GRCh37)
Canonical SPDI:: NC_000009.12:132883720:T:C
Gene:: SPACA9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000022/2 (GnomAD)
HGVS:: NC_000009.12:g.132883721T>C, NC_000009.11:g.135759108T>C

Select item 148852074117.

rs1488520741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:132886655 (GRCh38)
9:135762042 (GRCh37)
Canonical SPDI:: NC_000009.12:132886654:G:A,NC_000009.12:132886654:G:C
Gene:: SPACA9 (Varview)
Functional Consequence:: 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_000009.12:g.132886655G>A, NC_000009.12:g.132886655G>C, NC_000009.11:g.135762042G>A, NC_000009.11:g.135762042G>C

Select item 148813955218.

rs1488139552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:132877911 (GRCh38)
9:135753298 (GRCh37)
Canonical SPDI:: NC_000009.12:132877910:C:T
Gene:: SPACA9 (Varview), AK8 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.132877911C>T, NC_000009.11:g.135753298C>T

Select item 148801454419.

rs1488014544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:132882459 (GRCh38)
9:135757846 (GRCh37)
Canonical SPDI:: NC_000009.12:132882458:C:G
Gene:: SPACA9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.132882459C>G, NC_000009.11:g.135757846C>G

Select item 148778341020.

rs1487783410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:132878280 (GRCh38)
9:135753667 (GRCh37)
Canonical SPDI:: NC_000009.12:132878279:C:A
Gene:: SPACA9 (Varview), AK8 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000009.12:g.132878280C>A, NC_000009.11:g.135753667C>A, XM_011518277.3:c.-25G>T, XM_011518277.2:c.-25G>T, XM_011518277.1:c.-25G>T, XM_005272169.3:c.-25G>T, XM_005272169.2:c.-25G>T, XM_005272169.1:c.-25G>T, NM_152572.3:c.-25G>T, NM_152572.2:c.-25G>T, XM_011518278.3:c.-162G>T, XM_011518278.1:c.-162G>T, NM_001317959.2:c.-934G>T, NM_001317959.1:c.-934G>T, NM_001317958.2:c.-644G>T, NM_001317958.1:c.-644G>T, XM_047422821.1:c.-25G>T, NM_001371774.1:c.-679G>T, NM_001371772.1:c.-25G>T, XM_047422822.1:c.-25G>T

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