SNP Links for Gene (Select 100462953) - SNP

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Select item 14915020111.

rs1491502011 has merged into rs71071047 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 13:32496216 (GRCh38)
13:33070353 (GRCh37)
Canonical SPDI:: NC_000013.11:32496205:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:32496205:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:32496205:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:32496205:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:32496205:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:32496205:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.199481/999 (1000Genomes)
T=0.26698/70667 (TOPMED)
T=0.351667/211 (NorthernSweden)
T=0.351842/1356 (ALSPAC)
T=0.356796/1323 (TWINSUK)
T=0.425/17 (GENOME_DK)
HGVS:: NC_000013.11:g.32496216_32496218del, NC_000013.11:g.32496217_32496218del, NC_000013.11:g.32496218del, NC_000013.11:g.32496218dup, NC_000013.11:g.32496217_32496218dup, NC_000013.11:g.32496216_32496218dup, NC_000013.10:g.33070353_33070355del, NC_000013.10:g.33070354_33070355del, NC_000013.10:g.33070355del, NC_000013.10:g.33070355dup, NC_000013.10:g.33070354_33070355dup, NC_000013.10:g.33070353_33070355dup, NR_051980.1:n.2285_2287del, NR_051980.1:n.2286_2287del, NR_051980.1:n.2287del, NR_051980.1:n.2287dup, NR_051980.1:n.2286_2287dup, NR_051980.1:n.2285_2287dup

Select item 14893321182.

rs1489332118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:32498897 (GRCh38)
13:33073034 (GRCh37)
Canonical SPDI:: NC_000013.11:32498896:G:A
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.32498897G>A, NC_000013.10:g.33073034G>A

Select item 14891357383.

rs1489135738 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:32500109 (GRCh38)
13:33074246 (GRCh37)
Canonical SPDI:: NC_000013.11:32500108:A:G
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.32500109A>G, NC_000013.10:g.33074246A>G

Select item 14886091794.

rs1488609179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:32499297 (GRCh38)
13:33073434 (GRCh37)
Canonical SPDI:: NC_000013.11:32499296:C:T
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.32499297C>T, NC_000013.10:g.33073434C>T

Select item 14885945975.

rs1488594597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:32499732 (GRCh38)
13:33073869 (GRCh37)
Canonical SPDI:: NC_000013.11:32499731:T:C
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.32499732T>C, NC_000013.10:g.33073869T>C

Select item 14872298186.

rs1487229818 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:32500334 (GRCh38)
13:33074471 (GRCh37)
Canonical SPDI:: NC_000013.11:32500333:A:C
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.32500334A>C, NC_000013.10:g.33074471A>C

Select item 14872140777.

rs1487214077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:32498034 (GRCh38)
13:33072171 (GRCh37)
Canonical SPDI:: NC_000013.11:32498033:G:A
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.32498034G>A, NC_000013.10:g.33072171G>A, NR_051980.1:n.459C>T

Select item 14872033458.

rs1487203345 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCCATATTCCTTC>- [Show Flanks]
Chromosome:: 13:32499111 (GRCh38)
13:33073248 (GRCh37)
Canonical SPDI:: NC_000013.11:32499105:CCTTCTCCCATATTCCTTC:CCTTC
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCTTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.32499111_32499124del, NC_000013.10:g.33073248_33073261del

Select item 14870814599.

rs1487081459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:32498572 (GRCh38)
13:33072709 (GRCh37)
Canonical SPDI:: NC_000013.11:32498571:C:A,NC_000013.11:32498571:C:T
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.32498572C>A, NC_000013.11:g.32498572C>T, NC_000013.10:g.33072709C>A, NC_000013.10:g.33072709C>T

Select item 148634057710.

rs1486340577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:32496198 (GRCh38)
13:33070335 (GRCh37)
Canonical SPDI:: NC_000013.11:32496197:A:G
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000013.11:g.32496198A>G, NC_000013.10:g.33070335A>G

Select item 148608542711.

rs1486085427 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:32500468 (GRCh38)
13:33074605 (GRCh37)
Canonical SPDI:: NC_000013.11:32500467:T:C
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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_000013.11:g.32500468T>C, NC_000013.10:g.33074605T>C

Select item 148587907912.

rs1485879079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:32497208 (GRCh38)
13:33071345 (GRCh37)
Canonical SPDI:: NC_000013.11:32497207:C:A
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.32497208C>A, NC_000013.10:g.33071345C>A, NR_051980.1:n.1285G>T

Select item 148524518613.

rs1485245186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:32498172 (GRCh38)
13:33072309 (GRCh37)
Canonical SPDI:: NC_000013.11:32498171:G:C
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.32498172G>C, NC_000013.10:g.33072309G>C, NR_051980.1:n.321C>G

Select item 148511814914.

rs1485118149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:32496411 (GRCh38)
13:33070548 (GRCh37)
Canonical SPDI:: NC_000013.11:32496410:C:T
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000139/2 (ALFA)
T=0.00005/7 (GnomAD)
T=0.000068/18 (TOPMED)
HGVS:: NC_000013.11:g.32496411C>T, NC_000013.10:g.33070548C>T, NR_051980.1:n.2082G>A

Select item 148473312315.

rs1484733123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:32497834 (GRCh38)
13:33071971 (GRCh37)
Canonical SPDI:: NC_000013.11:32497833:C:A
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.32497834C>A, NC_000013.10:g.33071971C>A, NR_051980.1:n.659G>T

Select item 148470296516.

rs1484702965 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:32496551 (GRCh38)
13:33070688 (GRCh37)
Canonical SPDI:: NC_000013.11:32496550:T:C
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_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_000013.11:g.32496551T>C, NC_000013.10:g.33070688T>C, NR_051980.1:n.1942A>G

Select item 148412550917.

rs1484125509 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:32499309 (GRCh38)
13:33073447 (GRCh37)
Canonical SPDI:: NC_000013.11:32499309:T:TT
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.32499310dup, NC_000013.10:g.33073447dup

Select item 148277544318.

rs1482775443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:32496726 (GRCh38)
13:33070863 (GRCh37)
Canonical SPDI:: NC_000013.11:32496725:A:C
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_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_000013.11:g.32496726A>C, NC_000013.10:g.33070863A>C, NR_051980.1:n.1767T>G

Select item 148274523819.

rs1482745238 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 13:32495714 (GRCh38)
13:33069852 (GRCh37)
Canonical SPDI:: NC_000013.11:32495714:G:GG
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.32495715dup, NC_000013.10:g.33069852dup

Select item 148259433420.

rs1482594334 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:32498979 (GRCh38)
13:33073116 (GRCh37)
Canonical SPDI:: NC_000013.11:32498978:A:G
Gene:: N4BP2L2 (Varview), MICOS10P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000013.11:g.32498979A>G, NC_000013.10:g.33073116A>G

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