SNP Links for Gene (Select 729970) - SNP

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Items: 1 to 20 of 7993

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Select item 14915404041.

rs1491540404 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATTTTA [Show Flanks]
Chromosome:: 1:94939064 (GRCh38)
1:95404621 (GRCh37)
Canonical SPDI:: NC_000001.11:94939064::A,NC_000001.11:94939064::ATA,NC_000001.11:94939064::ATATA,NC_000001.11:94939064::ATATATA,NC_000001.11:94939064::ATATATATA,NC_000001.11:94939064::ATATATATATA,NC_000001.11:94939064::ATATATATATATA,NC_000001.11:94939064::ATATATATATATATA,NC_000001.11:94939064::ATATATATATATATATA,NC_000001.11:94939064::ATATATATATATATATATA,NC_000001.11:94939064::ATATATTTTA
Gene:: CNN3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.94939064_94939065insA, NC_000001.11:g.94939064_94939065insATA, NC_000001.11:g.94939064_94939065insATATA, NC_000001.11:g.94939064_94939065insATATATA, NC_000001.11:g.94939064_94939065insATATATATA, NC_000001.11:g.94939064_94939065insATATATATATA, NC_000001.11:g.94939064_94939065insATATATATATATA, NC_000001.11:g.94939064_94939065insATATATATATATATA, NC_000001.11:g.94939064_94939065insATATATATATATATATA, NC_000001.11:g.94939064_94939065insATATATATATATATATATA, NC_000001.11:g.94939064_94939065insATATATTTTA, NC_000001.10:g.95404620_95404621insA, NC_000001.10:g.95404620_95404621insATA, NC_000001.10:g.95404620_95404621insATATA, NC_000001.10:g.95404620_95404621insATATATA, NC_000001.10:g.95404620_95404621insATATATATA, NC_000001.10:g.95404620_95404621insATATATATATA, NC_000001.10:g.95404620_95404621insATATATATATATA, NC_000001.10:g.95404620_95404621insATATATATATATATA, NC_000001.10:g.95404620_95404621insATATATATATATATATA, NC_000001.10:g.95404620_95404621insATATATATATATATATATA, NC_000001.10:g.95404620_95404621insATATATTTTA

Select item 14914725762.

rs1491472576 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:94939066 (GRCh38)
1:95404622 (GRCh37)
Canonical SPDI:: NC_000001.11:94939063:TTTT:TT
Gene:: CNN3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.001855/22 (ALFA)
-=0.001151/2 (Korea1K)
-=0.001204/20 (TOMMO)
-=0.00258/281 (GnomAD)
HGVS:: NC_000001.11:g.94939066_94939067del, NC_000001.10:g.95404622_95404623del

Select item 14913963783.

rs1491396378 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 1:94939016 (GRCh38)
1:95404572 (GRCh37)
Canonical SPDI:: NC_000001.11:94939014:AAA:A,NC_000001.11:94939014:AAA:AAAAA
Gene:: CNN3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.00471/77 (TOMMO)
-=0.0116/559 (GnomAD)
HGVS:: NC_000001.11:g.94939016_94939017del, NC_000001.11:g.94939016_94939017dup, NC_000001.10:g.95404572_95404573del, NC_000001.10:g.95404572_95404573dup

Select item 14913099754.

rs1491309975 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GACA [Show Flanks]
Chromosome:: 1:94950771 (GRCh38)
1:95416328 (GRCh37)
Canonical SPDI:: NC_000001.11:94950771:ACA:ACAGACA
Gene:: CNN3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACAGACA=0./0 (ALFA)
ACAG=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.94950774_94950775insGACA, NC_000001.10:g.95416330_95416331insGACA

Select item 14912430625.

rs1491243062 has merged into rs71996592 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACAC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 1:94950786 (GRCh38)
1:95416342 (GRCh37)
Canonical SPDI:: NC_000001.11:94950770:CACACACACACACACACACACACACACAC:CACACACACACACAC,NC_000001.11:94950770:CACACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000001.11:94950770:CACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000001.11:94950770:CACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000001.11:94950770:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000001.11:94950770:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000001.11:94950770:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000001.11:94950770:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000001.11:94950770:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000001.11:94950770:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000001.11:94950770:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000001.11:94950770:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:94950770:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:94950770:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:94950770:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:94950770:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:94950770:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: CNN3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACAC=0./0 (ALFA)
CACA=0.1919/961 (1000Genomes)
HGVS:: NC_000001.11:g.94950772AC[7], NC_000001.11:g.94950772AC[9], NC_000001.11:g.94950772AC[10], NC_000001.11:g.94950772AC[11], NC_000001.11:g.94950772AC[12], NC_000001.11:g.94950772AC[13], NC_000001.11:g.94950772AC[15], NC_000001.11:g.94950772AC[16], NC_000001.11:g.94950772AC[17], NC_000001.11:g.94950772AC[18], NC_000001.11:g.94950772AC[19], NC_000001.11:g.94950772AC[20], NC_000001.11:g.94950772AC[21], NC_000001.11:g.94950772AC[22], NC_000001.11:g.94950772AC[23], NC_000001.11:g.94950772AC[24], NC_000001.11:g.94950772AC[25], NC_000001.10:g.95416328AC[7], NC_000001.10:g.95416328AC[9], NC_000001.10:g.95416328AC[10], NC_000001.10:g.95416328AC[11], NC_000001.10:g.95416328AC[12], NC_000001.10:g.95416328AC[13], NC_000001.10:g.95416328AC[15], NC_000001.10:g.95416328AC[16], NC_000001.10:g.95416328AC[17], NC_000001.10:g.95416328AC[18], NC_000001.10:g.95416328AC[19], NC_000001.10:g.95416328AC[20], NC_000001.10:g.95416328AC[21], NC_000001.10:g.95416328AC[22], NC_000001.10:g.95416328AC[23], NC_000001.10:g.95416328AC[24], NC_000001.10:g.95416328AC[25]

Select item 14911010296.

rs1491101029 has merged into rs60283438 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:94962911 (GRCh38)
1:95428467 (GRCh37)
Canonical SPDI:: NC_000001.11:94962899:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:94962899:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:94962899:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:94962899:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:94962899:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:94962899:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:94962899:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:94962899:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:94962899:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CNN3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3466/1736 (1000Genomes)
T=0.4/16 (GENOME_DK)
HGVS:: NC_000001.11:g.94962911_94962914del, NC_000001.11:g.94962912_94962914del, NC_000001.11:g.94962913_94962914del, NC_000001.11:g.94962914del, NC_000001.11:g.94962914dup, NC_000001.11:g.94962913_94962914dup, NC_000001.11:g.94962912_94962914dup, NC_000001.11:g.94962910_94962914dup, NC_000001.11:g.94962903_94962914dup, NC_000001.10:g.95428467_95428470del, NC_000001.10:g.95428468_95428470del, NC_000001.10:g.95428469_95428470del, NC_000001.10:g.95428470del, NC_000001.10:g.95428470dup, NC_000001.10:g.95428469_95428470dup, NC_000001.10:g.95428468_95428470dup, NC_000001.10:g.95428466_95428470dup, NC_000001.10:g.95428459_95428470dup

Select item 14909624497.

rs1490962449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:94938502 (GRCh38)
1:95404058 (GRCh37)
Canonical SPDI:: NC_000001.11:94938501:G:A
Gene:: CNN3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000212/4 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000764/107 (GnomAD)
A=0.000893/4 (Estonian)
HGVS:: NC_000001.11:g.94938502G>A, NC_000001.10:g.95404058G>A

Select item 14909468018.

rs1490946801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:94953715 (GRCh38)
1:95419271 (GRCh37)
Canonical SPDI:: NC_000001.11:94953714:A:T
Gene:: CNN3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.94953715A>T, NC_000001.10:g.95419271A>T

Select item 14907849259.

rs1490784925 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:94928110 (GRCh38)
1:95393666 (GRCh37)
Canonical SPDI:: NC_000001.11:94928109:CA:
Gene:: CNN3 (Varview), CNN3-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_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.94928110_94928111del, NC_000001.10:g.95393666_95393667del, NR_033998.1:n.83_84del

Select item 149077000610.

rs1490770006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:94959377 (GRCh38)
1:95424933 (GRCh37)
Canonical SPDI:: NC_000001.11:94959376:A:G,NC_000001.11:94959376:A:T
Gene:: CNN3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.94959377A>G, NC_000001.11:g.94959377A>T, NC_000001.10:g.95424933A>G, NC_000001.10:g.95424933A>T

Select item 149037745011.

rs1490377450 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:94945356 (GRCh38)
1:95410912 (GRCh37)
Canonical SPDI:: NC_000001.11:94945355:G:
Gene:: CNN3-DT (Varview)
Functional Consequence:: intron_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.94945356del, NC_000001.10:g.95410912del

Select item 149037023612.

rs1490370236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:94960485 (GRCh38)
1:95426041 (GRCh37)
Canonical SPDI:: NC_000001.11:94960484:T:A
Gene:: CNN3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.94960485T>A, NC_000001.10:g.95426041T>A

Select item 149024154113.

rs1490241541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:94954994 (GRCh38)
1:95420550 (GRCh37)
Canonical SPDI:: NC_000001.11:94954993:T:G
Gene:: CNN3-DT (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.94954994T>G, NC_000001.10:g.95420550T>G

Select item 149009881114.

rs1490098811 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:94929750 (GRCh38)
1:95395306 (GRCh37)
Canonical SPDI:: NC_000001.11:94929749:T:C
Gene:: CNN3-DT (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_000001.11:g.94929750T>C, NC_000001.10:g.95395306T>C

Select item 149007981915.

rs1490079819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:94941911 (GRCh38)
1:95407467 (GRCh37)
Canonical SPDI:: NC_000001.11:94941910:C:G
Gene:: CNN3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.94941911C>G, NC_000001.10:g.95407467C>G

Select item 149005221916.

rs1490052219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:94946461 (GRCh38)
1:95412017 (GRCh37)
Canonical SPDI:: NC_000001.11:94946460:G:A,NC_000001.11:94946460:G:C
Gene:: CNN3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.94946461G>A, NC_000001.11:g.94946461G>C, NC_000001.10:g.95412017G>A, NC_000001.10:g.95412017G>C

Select item 149000766617.

rs1490007666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:94961804 (GRCh38)
1:95427360 (GRCh37)
Canonical SPDI:: NC_000001.11:94961803:G:A
Gene:: CNN3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.94961804G>A, NC_000001.10:g.95427360G>A

Select item 148992227418.

rs1489922274 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:94946407 (GRCh38)
1:95411963 (GRCh37)
Canonical SPDI:: NC_000001.11:94946406:T:C
Gene:: CNN3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.94946407T>C, NC_000001.10:g.95411963T>C

Select item 148987903619.

rs1489879036 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:94960972 (GRCh38)
1:95426528 (GRCh37)
Canonical SPDI:: NC_000001.11:94960971:T:C
Gene:: CNN3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.94960972T>C, NC_000001.10:g.95426528T>C

Select item 148983776420.

rs1489837764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:94938853 (GRCh38)
1:95404409 (GRCh37)
Canonical SPDI:: NC_000001.11:94938852:C:T
Gene:: CNN3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.94938853C>T, NC_000001.10:g.95404409C>T

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