SNP Links for Gene (Select 1266) - SNP

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Select item 14914344641.

rs1491434464 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:94897371 (GRCh38)
1:95362927 (GRCh37)
Canonical SPDI:: NC_000001.11:94897370:TA:
Gene:: CNN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.94897371_94897372del, NC_000001.10:g.95362927_95362928del, NM_001839.5:c.*370_*371del, NM_001839.4:c.*370_*371del, NM_001839.3:c.*370_*371del, NM_001286056.2:c.*370_*371del, NM_001286056.1:c.*370_*371del, NM_001286055.2:c.*370_*371del, NM_001286055.1:c.*370_*371del, XM_047444480.1:c.*370_*371del, XM_047444486.1:c.*370_*371del

Select item 14913627332.

rs1491362733 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA,AAA,AAAA,AAAAAAAA [Show Flanks]
Chromosome:: 1:94918493 (GRCh38)
1:95384050 (GRCh37)
Canonical SPDI:: NC_000001.11:94918493:AAAAAAAA:AAAAAAAAA,NC_000001.11:94918493:AAAAAAAA:AAAAAAAAAA,NC_000001.11:94918493:AAAAAAAA:AAAAAAAAAAA,NC_000001.11:94918493:AAAAAAAA:AAAAAAAAAAAA,NC_000001.11:94918493:AAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: CNN3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.94918501dup, NC_000001.11:g.94918500_94918501dup, NC_000001.11:g.94918499_94918501dup, NC_000001.11:g.94918498_94918501dup, NC_000001.11:g.94918494_94918501dup, NC_000001.10:g.95384057dup, NC_000001.10:g.95384056_95384057dup, NC_000001.10:g.95384055_95384057dup, NC_000001.10:g.95384054_95384057dup, NC_000001.10:g.95384050_95384057dup, XM_047444480.1:c.-7650dup, XM_047444480.1:c.-7651_-7650dup, XM_047444480.1:c.-7652_-7650dup, XM_047444480.1:c.-7653_-7650dup, XM_047444480.1:c.-7657_-7650dup

Select item 14913597133.

rs1491359713 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:94896554 (GRCh38)
1:95362111 (GRCh37)
Canonical SPDI:: NC_000001.11:94896554:A:AA
Gene:: CNN3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.94896555dup, NC_000001.10:g.95362111dup

Select item 14913417334.

rs1491341733 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:94918493 (GRCh38)
1:95384049 (GRCh37)
Canonical SPDI:: NC_000001.11:94918492:CA:
Gene:: CNN3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000001.11:g.94918493_94918494del, NC_000001.10:g.95384049_95384050del, XM_047444480.1:c.-7650_-7649del

Select item 14911931315.

rs1491193131 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:94896555 (GRCh38)
1:95362111 (GRCh37)
Canonical SPDI:: NC_000001.11:94896553:TAT:T
Gene:: CNN3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.94896555_94896556del, NC_000001.10:g.95362111_95362112del

Select item 14910673456.

rs1491067345 has merged into rs34777919 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 1:94923512 (GRCh38)
1:95389068 (GRCh37)
Canonical SPDI:: NC_000001.11:94923502:TTTTTTTTTTT:TTTTTTTTT,NC_000001.11:94923502:TTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:94923502:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:94923502:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:94923502:TTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: CNN3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.119389/524 (1000Genomes)
T=0.172972/45784 (TOPMED)
HGVS:: NC_000001.11:g.94923512_94923513del, NC_000001.11:g.94923513del, NC_000001.11:g.94923513dup, NC_000001.11:g.94923512_94923513dup, NC_000001.11:g.94923511_94923513dup, NC_000001.10:g.95389068_95389069del, NC_000001.10:g.95389069del, NC_000001.10:g.95389069dup, NC_000001.10:g.95389068_95389069dup, NC_000001.10:g.95389067_95389069dup, XM_047444480.1:c.-12014_-12013del, XM_047444480.1:c.-12013del, XM_047444480.1:c.-12013dup, XM_047444480.1:c.-12014_-12013dup, XM_047444480.1:c.-12015_-12013dup

Select item 14910150917.

rs1491015091 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:94918507 (GRCh38)
1:95384063 (GRCh37)
Canonical SPDI:: NC_000001.11:94918505:ATA:A
Gene:: CNN3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: -=0.00899/5 (NorthernSweden)
-=0.02869/423 (TOMMO)
-=0.0641/95 (Korea1K)
-=0.08867/7647 (GnomAD)
HGVS:: NC_000001.11:g.94918507_94918508del, NC_000001.10:g.95384063_95384064del, XM_047444480.1:c.-7663_-7662del

Select item 14909450198.

rs1490945019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:94905202 (GRCh38)
1:95370758 (GRCh37)
Canonical SPDI:: NC_000001.11:94905201:C:G
Gene:: CNN3 (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.94905202C>G, NC_000001.10:g.95370758C>G

Select item 14909301039.

rs1490930103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:94902434 (GRCh38)
1:95367990 (GRCh37)
Canonical SPDI:: NC_000001.11:94902433:G:C
Gene:: CNN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.94902434G>C, NC_000001.10:g.95367990G>C

Select item 149091593010.

rs1490915930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:94920142 (GRCh38)
1:95385698 (GRCh37)
Canonical SPDI:: NC_000001.11:94920141:C:T
Gene:: CNN3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000546/1 (Korea1K)
T=0.000684/2 (KOREAN)
HGVS:: NC_000001.11:g.94920142C>T, NC_000001.10:g.95385698C>T, XM_047444480.1:c.-9298G>A

Select item 149090006311.

rs1490900063 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:94920067 (GRCh38)
1:95385623 (GRCh37)
Canonical SPDI:: NC_000001.11:94920066:A:C
Gene:: CNN3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.94920067A>C, NC_000001.10:g.95385623A>C, XM_047444480.1:c.-9223T>G

Select item 149084215912.

rs1490842159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:94921169 (GRCh38)
1:95386725 (GRCh37)
Canonical SPDI:: NC_000001.11:94921168:G:A
Gene:: CNN3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_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_000001.11:g.94921169G>A, NC_000001.10:g.95386725G>A, XM_047444480.1:c.-10325C>T

Select item 149082277213.

rs1490822772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:94912179 (GRCh38)
1:95377735 (GRCh37)
Canonical SPDI:: NC_000001.11:94912178:C:T
Gene:: CNN3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.94912179C>T, NC_000001.10:g.95377735C>T, XM_047444480.1:c.-1335G>A

Select item 149078492514.

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 149072264015.

rs1490722640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:94901819 (GRCh38)
1:95367375 (GRCh37)
Canonical SPDI:: NC_000001.11:94901818:C:T
Gene:: CNN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.94901819C>T, NC_000001.10:g.95367375C>T

Select item 149071435616.

rs1490714356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:94899963 (GRCh38)
1:95365519 (GRCh37)
Canonical SPDI:: NC_000001.11:94899962:G:C
Gene:: CNN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.94899963G>C, NC_000001.10:g.95365519G>C

Select item 149046177417.

rs1490461774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:94905280 (GRCh38)
1:95370836 (GRCh37)
Canonical SPDI:: NC_000001.11:94905279:C:G
Gene:: CNN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.94905280C>G, NC_000001.10:g.95370836C>G

Select item 149044047218.

rs1490440472 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:94919051 (GRCh38)
1:95384607 (GRCh37)
Canonical SPDI:: NC_000001.11:94919050:A:C
Gene:: CNN3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.94919051A>C, NC_000001.10:g.95384607A>C, XM_047444480.1:c.-8207T>G

Select item 149031614019.

rs1490316140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:94913825 (GRCh38)
1:95379381 (GRCh37)
Canonical SPDI:: NC_000001.11:94913824:A:G
Gene:: CNN3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_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_000001.11:g.94913825A>G, NC_000001.10:g.95379381A>G, XM_047444480.1:c.-2981T>C

Select item 149011303720.

rs1490113037 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:94903693 (GRCh38)
1:95369249 (GRCh37)
Canonical SPDI:: NC_000001.11:94903692:AA:
Gene:: CNN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.94903693_94903694del, NC_000001.10:g.95369249_95369250del

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