SNP Links for Gene (Select 283174) - SNP

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Select item 14915177241.

rs1491517724 has merged into rs1354571422 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC,ACACAC [Show Flanks]
Chromosome:: 11:133901840 (GRCh38)
11:133771735 (GRCh37)
Canonical SPDI:: NC_000011.10:133901831:ACACACACACAC:ACACACAC,NC_000011.10:133901831:ACACACACACAC:ACACACACAC,NC_000011.10:133901831:ACACACACACAC:ACACACACACACAC
Gene:: IGSF9B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACAC=0./0 (ALFA)
AC=0.000004/1 (TOPMED)
-=0.000129/2 (TOMMO)
HGVS:: NC_000011.10:g.133901832AC[4], NC_000011.10:g.133901832AC[5], NC_000011.10:g.133901832AC[7], NC_000011.9:g.133771727AC[4], NC_000011.9:g.133771727AC[5], NC_000011.9:g.133771727AC[7], NM_001277285.4:c.*7226GT[4], NM_001277285.4:c.*7226GT[5], NM_001277285.4:c.*7226GT[7]

Select item 14915124842.

rs1491512484 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:133902016 (GRCh38)
11:133771911 (GRCh37)
Canonical SPDI:: NC_000011.10:133902014:ATA:A
Gene:: IGSF9B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001265/15 (ALFA)
-=0.002332/263 (GnomAD)
HGVS:: NC_000011.10:g.133902016_133902017del, NC_000011.9:g.133771911_133771912del, NM_001277285.4:c.*7053_*7054del

Select item 14914506763.

rs1491450676 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:133902444 (GRCh38)
11:133772340 (GRCh37)
Canonical SPDI:: NC_000011.10:133902444::A
Gene:: IGSF9B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00006/1 (TOMMO)
HGVS:: NC_000011.10:g.133902444_133902445insA, NC_000011.9:g.133772339_133772340insA, NM_001277285.4:c.*6624_*6625insT

Select item 14914475354.

rs1491447535 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:133896097 (GRCh38)
11:133765992 (GRCh37)
Canonical SPDI:: NC_000011.10:133896096:CT:
Gene:: IGSF9B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.000156/1 (1000Genomes)
-=0.003333/2 (NorthernSweden)
HGVS:: NC_000011.10:g.133896097_133896098del, NC_000011.9:g.133765992_133765993del

Select item 14913737005.

rs1491373700 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->ATA
Chromosome:: no mapping
Canonical SPDI:

Select item 14912467626.

rs1491246762 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 11:133898817 (GRCh38)
11:133768712 (GRCh37)
Canonical SPDI:: NC_000011.10:133898816:AC:
Gene:: IGSF9B (Varview), MIR4697 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.133898817_133898818del, NC_000011.9:g.133768712_133768713del, NM_001277285.4:c.*10251_*10252del, NM_001001873.2:c.*1289_*1290del, NR_024344.1:n.2923_2924del, NM_001001873.1:c.*1290_*1291del

Select item 14911494817.

rs1491149481 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:133901955 (GRCh38)
11:133771850 (GRCh37)
Canonical SPDI:: NC_000011.10:133901948:CACACACA:CACACA
Gene:: IGSF9B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000033/2 (GnomAD)
HGVS:: NC_000011.10:g.133901949CA[3], NC_000011.9:g.133771844CA[3], NM_001277285.4:c.*7113TG[3]

Select item 14911135108.

rs1491113510 has merged into rs1464263406 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACCACACAC>-,ACACCACACACACACCACACAC [Show Flanks]
Chromosome:: 11:133901840 (GRCh38)
11:133771735 (GRCh37)
Canonical SPDI:: NC_000011.10:133901832:CACACACACACCACACAC:CACACAC,NC_000011.10:133901832:CACACACACACCACACAC:CACACACACACCACACACACACCACACAC
Gene:: IGSF9B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACCACACACACACCACACAC=0.00067/11 (ALFA)
HGVS:: NC_000011.10:g.133901840_133901850del, NC_000011.10:g.133901840_133901850dup, NC_000011.9:g.133771735_133771745del, NC_000011.9:g.133771735_133771745dup, NM_001277285.4:c.*7226_*7236del, NM_001277285.4:c.*7226_*7236dup

Select item 14909599359.

rs1490959935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:133898916 (GRCh38)
11:133768811 (GRCh37)
Canonical SPDI:: NC_000011.10:133898915:G:T
Gene:: IGSF9B (Varview), MIR4697 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.133898916G>T, NC_000011.9:g.133768811G>T, NM_001277285.4:c.*10153C>A, NM_001001873.2:c.*1191C>A, NR_024344.1:n.2825C>A, NM_001001873.1:c.*1192C>A

Select item 149090870410.

rs1490908704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:133898071 (GRCh38)
11:133767966 (GRCh37)
Canonical SPDI:: NC_000011.10:133898070:C:T
Gene:: IGSF9B (Varview), MIR4697 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_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_000011.10:g.133898071C>T, NC_000011.9:g.133767966C>T, NM_001277285.4:c.*10998G>A, NM_001001873.2:c.*2036G>A, NR_024344.1:n.3670G>A, NM_001001873.1:c.*2037G>A

Select item 148986354011.

rs1489863540 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:133896134 (GRCh38)
11:133766029 (GRCh37)
Canonical SPDI:: NC_000011.10:133896133:A:G,NC_000011.10:133896133:A:T
Gene:: IGSF9B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000011.10:g.133896134A>G, NC_000011.10:g.133896134A>T, NC_000011.9:g.133766029A>G, NC_000011.9:g.133766029A>T

Select item 148946964112.

rs1489469641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:133902485 (GRCh38)
11:133772380 (GRCh37)
Canonical SPDI:: NC_000011.10:133902484:C:T
Gene:: IGSF9B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.133902485C>T, NC_000011.9:g.133772380C>T, NM_001277285.4:c.*6584G>A

Select item 148911249213.

rs1489112492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:133903111 (GRCh38)
11:133773006 (GRCh37)
Canonical SPDI:: NC_000011.10:133903110:G:A
Gene:: IGSF9B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.133903111G>A, NC_000011.9:g.133773006G>A, NM_001277285.4:c.*5958C>T

Select item 148902942714.

rs1489029427 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGCACACCACACACA [Show Flanks]
Chromosome:: 11:133902449 (GRCh38)
11:133772345 (GRCh37)
Canonical SPDI:: NC_000011.10:133902449:CACACCACACACA:CACACCACACACACGCACACCACACACA
Gene:: IGSF9B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACCACACACACGCACACCACACACA=0./0 (ALFA)
CACACCACACACACG=0.0001/2 (TOMMO)
HGVS:: NC_000011.10:g.133902450_133902462CACAC[2]AC[2]GCACACCACACACA[1], NC_000011.9:g.133772345_133772357CACAC[2]AC[2]GCACACCACACACA[1], NM_001277285.4:c.*6607_*6619TG[4]GT[2]GCGTGTGTGTGGTGTG[1]

Select item 148877236515.

rs1488772365 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:133899556 (GRCh38)
11:133769451 (GRCh37)
Canonical SPDI:: NC_000011.10:133899555:A:T
Gene:: IGSF9B (Varview), MIR4697 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_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_000011.10:g.133899556A>T, NC_000011.9:g.133769451A>T, NM_001277285.4:c.*9513T>A, NM_001001873.2:c.*551T>A, NR_024344.1:n.2185T>A, NM_001001873.1:c.*552T>A

Select item 148867707616.

rs1488677076 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGG>- [Show Flanks]
Chromosome:: 11:133902825 (GRCh38)
11:133772720 (GRCh37)
Canonical SPDI:: NC_000011.10:133902820:GAGGAGG:GAGG
Gene:: IGSF9B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.133902822AGG[1], NC_000011.9:g.133772717AGG[1], NM_001277285.4:c.*6243CTC[1]

Select item 148848664917.

rs1488486649 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:133896638 (GRCh38)
11:133766533 (GRCh37)
Canonical SPDI:: NC_000011.10:133896637:T:C,NC_000011.10:133896637:T:G
Gene:: IGSF9B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.133896638T>C, NC_000011.10:g.133896638T>G, NC_000011.9:g.133766533T>C, NC_000011.9:g.133766533T>G, NM_001277285.4:c.*12431A>G, NM_001277285.4:c.*12431A>C, NR_024344.1:n.5103A>G, NR_024344.1:n.5103A>C

Select item 148848626218.

rs1488486262 has merged into rs1307866160 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC [Show Flanks]
Chromosome:: 11:133902321 (GRCh38)
11:133772216 (GRCh37)
Canonical SPDI:: NC_000011.10:133902314:ACACACACAC:ACACAC,NC_000011.10:133902314:ACACACACAC:ACACACAC
Gene:: IGSF9B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACAC=0.00012/2 (ALFA)
-=0.00109/18 (TOMMO)
HGVS:: NC_000011.10:g.133902315AC[3], NC_000011.10:g.133902315AC[4], NC_000011.9:g.133772210AC[3], NC_000011.9:g.133772210AC[4], NM_001277285.4:c.*6745GT[3], NM_001277285.4:c.*6745GT[4]

Select item 148810829319.

rs1488108293 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 11:133896282 (GRCh38)
11:133766177 (GRCh37)
Canonical SPDI:: NC_000011.10:133896281:G:
Gene:: IGSF9B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.133896282del, NC_000011.9:g.133766177del

Select item 148768672020.

rs1487686720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:133902493 (GRCh38)
11:133772388 (GRCh37)
Canonical SPDI:: NC_000011.10:133902492:C:T
Gene:: IGSF9B (Varview)
Functional Consequence:: 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_000011.10:g.133902493C>T, NC_000011.9:g.133772388C>T, NM_001277285.4:c.*6576G>A

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