SNP Links for Gene (Select 266695) - SNP

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Select item 14915842711.

rs1491584271 has merged into rs546620282 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA [Show Flanks]
Chromosome:: 13:19052767 (GRCh38)
13:19626907 (GRCh37)
Canonical SPDI:: NC_000013.11:19052757:AGAGAGAGAGAGA:AGAGAGAGA,NC_000013.11:19052757:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000013.11:19052757:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000013.11:19052757:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGA=0./0 (ALFA)
AG=0.00004/1 (TOMMO)
-=0.003/15 (1000Genomes)
HGVS:: NC_000013.11:g.19052759GA[4], NC_000013.11:g.19052759GA[5], NC_000013.11:g.19052759GA[7], NC_000013.11:g.19052759GA[8], NC_000013.10:g.19626899GA[4], NC_000013.10:g.19626899GA[5], NC_000013.10:g.19626899GA[7], NC_000013.10:g.19626899GA[8], NG_053161.1:g.10115CT[4], NG_053161.1:g.10115CT[5], NG_053161.1:g.10115CT[7], NG_053161.1:g.10115CT[8], NR_002801.1:n.1614CT[4], NR_002801.1:n.1614CT[5], NR_002801.1:n.1614CT[7], NR_002801.1:n.1614CT[8]

Select item 14914675912.

rs1491467591 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 13:19052756 (GRCh38)
13:19626896 (GRCh37)
Canonical SPDI:: NC_000013.11:19052755:TA:
Validated:: by cluster
HGVS:: NC_000013.11:g.19052756_19052757del, NC_000013.10:g.19626896_19626897del, NG_053161.1:g.10127_10128del, NR_002801.1:n.1626_1627del

Select item 14910677653.

rs1491067765 has merged into rs111404161 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 13:19072381 (GRCh38)
13:19646521 (GRCh37)
Canonical SPDI:: NC_000013.11:19072372:ATATATATAT:ATATATAT,NC_000013.11:19072372:ATATATATAT:ATATATATATAT,NC_000013.11:19072372:ATATATATAT:ATATATATATATAT
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATAT=0./0 (ALFA)
-=0.00039/7 (TOMMO)
HGVS:: NC_000013.11:g.19072373AT[4], NC_000013.11:g.19072373AT[6], NC_000013.11:g.19072373AT[7], NC_000013.10:g.19646513AT[4], NC_000013.10:g.19646513AT[6], NC_000013.10:g.19646513AT[7]

Select item 14910531184.

rs1491053118 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 13:19052177 (GRCh38)
13:19626317 (GRCh37)
Canonical SPDI:: NC_000013.11:19052174:GTGT:GT
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.19052175GT[1], NC_000013.10:g.19626315GT[1], NG_053161.1:g.10706AC[1], NR_002801.1:n.2205AC[1]

Select item 14909706835.

rs1490970683 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:19051160 (GRCh38)
13:19625300 (GRCh37)
Canonical SPDI:: NC_000013.11:19051159:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.19051160C>T, NC_000013.10:g.19625300C>T, NG_053161.1:g.11724G>A

Select item 14908270376.

rs1490827037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:19073574 (GRCh38)
13:19647714 (GRCh37)
Canonical SPDI:: NC_000013.11:19073573:G:A
Gene:: LOC107984132 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.0004/2 (ALFA)
HGVS:: NC_000013.11:g.19073574G>A, NC_000013.10:g.19647714G>A

Select item 14907038297.

rs1490703829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:19070862 (GRCh38)
13:19645002 (GRCh37)
Canonical SPDI:: NC_000013.11:19070861:C:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.19070862C>A, NC_000013.10:g.19645002C>A

Select item 14906816898.

rs1490681689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:19060993 (GRCh38)
13:19635133 (GRCh37)
Canonical SPDI:: NC_000013.11:19060992:G:A,NC_000013.11:19060992:G:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.19060993G>A, NC_000013.11:g.19060993G>C, NC_000013.10:g.19635133G>A, NC_000013.10:g.19635133G>C, NG_053161.1:g.1891C>T, NG_053161.1:g.1891C>G

Select item 14906641749.

rs1490664174 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:19045039 (GRCh38)
13:19619179 (GRCh37)
Canonical SPDI:: NC_000013.11:19045037:TCT:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.19045039_19045040del, NC_000013.10:g.19619179_19619180del

Select item 149056333910.

rs1490563339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:19054192 (GRCh38)
13:19628332 (GRCh37)
Canonical SPDI:: NC_000013.11:19054191:G:A,NC_000013.11:19054191:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000013.11:g.19054192G>A, NC_000013.11:g.19054192G>C, NC_000013.10:g.19628332G>A, NC_000013.10:g.19628332G>C, NG_053161.1:g.8692C>T, NG_053161.1:g.8692C>G

Select item 149055667411.

rs1490556674 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:19071259 (GRCh38)
13:19645399 (GRCh37)
Canonical SPDI:: NC_000013.11:19071258:T:C
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.19071259T>C, NC_000013.10:g.19645399T>C

Select item 149054189112.

rs1490541891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:19070518 (GRCh38)
13:19644658 (GRCh37)
Canonical SPDI:: NC_000013.11:19070517:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000042/11 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000013.11:g.19070518G>A, NC_000013.10:g.19644658G>A

Select item 149051827013.

rs1490518270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:19060748 (GRCh38)
13:19634888 (GRCh37)
Canonical SPDI:: NC_000013.11:19060747:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.19060748G>A, NC_000013.10:g.19634888G>A, NG_053161.1:g.2136C>T

Select item 149023421114.

rs1490234211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:19055601 (GRCh38)
13:19629741 (GRCh37)
Canonical SPDI:: NC_000013.11:19055600:G:A,NC_000013.11:19055600:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.19055601G>A, NC_000013.11:g.19055601G>C, NC_000013.10:g.19629741G>A, NC_000013.10:g.19629741G>C, NG_053161.1:g.7283C>T, NG_053161.1:g.7283C>G

Select item 149022878615.

rs1490228786 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 13:19055691 (GRCh38)
13:19629832 (GRCh37)
Canonical SPDI:: NC_000013.11:19055691::CA
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0./0 (ALFA)
CA=0.000004/1 (TOPMED)
CA=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.19055691_19055692insCA, NC_000013.10:g.19629831_19629832insCA, NG_053161.1:g.7192_7193insTG

Select item 149020860616.

rs1490208606 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACAGTTGC [Show Flanks]
Chromosome:: 13:19054804 (GRCh38)
13:19628945 (GRCh37)
Canonical SPDI:: NC_000013.11:19054804:ACAGTTGC:ACAGTTGCACAGTTGC
Validated:: by frequency,by alfa,by cluster
MAF:: ACAGTTGCACAGTTGC=0.000071/1 (ALFA)
ACAGTTGC=0.000007/1 (GnomAD)
ACAGTTGC=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.19054805_19054812dup, NC_000013.10:g.19628945_19628952dup, NG_053161.1:g.8072_8079dup

Select item 149019139517.

rs1490191395 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:19045463 (GRCh38)
13:19619603 (GRCh37)
Canonical SPDI:: NC_000013.11:19045462:T:C
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.19045463T>C, NC_000013.10:g.19619603T>C

Select item 149018639418.

rs1490186394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:19060048 (GRCh38)
13:19634188 (GRCh37)
Canonical SPDI:: NC_000013.11:19060047:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.19060048C>T, NC_000013.10:g.19634188C>T, NG_053161.1:g.2836G>A

Select item 149015269319.

rs1490152693 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 13:19050922 (GRCh38)
13:19625062 (GRCh37)
Canonical SPDI:: NC_000013.11:19050921:T:A,NC_000013.11:19050921:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0./0 (SGDP_PRJ)
C=0.000004/1 (TOPMED)
C=0.000015/1 (GnomAD)
HGVS:: NC_000013.11:g.19050922T>A, NC_000013.11:g.19050922T>C, NC_000013.10:g.19625062T>A, NC_000013.10:g.19625062T>C, NG_053161.1:g.11962A>T, NG_053161.1:g.11962A>G

Select item 149004432920.

rs1490044329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:19068062 (GRCh38)
13:19642202 (GRCh37)
Canonical SPDI:: NC_000013.11:19068061:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000017/2 (GnomAD)
HGVS:: NC_000013.11:g.19068062C>T, NC_000013.10:g.19642202C>T

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