SNP Links for Gene (Select 728975) - SNP

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Select item 14901401891.

rs1490140189 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65179498 (GRCh38)
11:64946969 (GRCh37)
Canonical SPDI:: NC_000011.10:65179497:A:G
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65179498A>G, NC_000011.9:g.64946969A>G, NG_052817.1:g.3284A>G

Select item 14899907022.

rs1489990702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:65181081 (GRCh38)
11:64948552 (GRCh37)
Canonical SPDI:: NC_000011.10:65181080:G:C
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: 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_000011.10:g.65181081G>C, NC_000011.9:g.64948552G>C, NG_052817.1:g.4867G>C

Select item 14881291083.

rs1488129108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65180908 (GRCh38)
11:64948379 (GRCh37)
Canonical SPDI:: NC_000011.10:65180907:C:T
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000132/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.65180908C>T, NC_000011.9:g.64948379C>T, NG_052817.1:g.4694C>T, NR_145677.1:n.775G>A

Select item 14876641584.

rs1487664158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:65183245 (GRCh38)
11:64950716 (GRCh37)
Canonical SPDI:: NC_000011.10:65183244:C:A
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65183245C>A, NC_000011.9:g.64950716C>A, NG_052817.1:g.7031C>A

Select item 14865856675.

rs1486585667 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65182045 (GRCh38)
11:64949516 (GRCh37)
Canonical SPDI:: NC_000011.10:65182044:T:C
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: genic_upstream_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_000011.10:g.65182045T>C, NC_000011.9:g.64949516T>C, NG_052817.1:g.5831T>C

Select item 14865540896.

rs1486554089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:65181381 (GRCh38)
11:64948852 (GRCh37)
Canonical SPDI:: NC_000011.10:65181380:C:G,NC_000011.10:65181380:C:T
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000011.10:g.65181381C>G, NC_000011.10:g.65181381C>T, NC_000011.9:g.64948852C>G, NC_000011.9:g.64948852C>T, NG_052817.1:g.5167C>G, NG_052817.1:g.5167C>T, NM_001198868.2:c.-31C>G, NM_001198868.2:c.-31C>T, NM_001198868.1:c.-31C>G, NM_001198868.1:c.-31C>T, XM_006718698.3:c.-403C>G, XM_006718698.3:c.-403C>T, NR_145677.1:n.454G>C, NR_145677.1:n.454G>A

Select item 14862885487.

rs1486288548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65182447 (GRCh38)
11:64949918 (GRCh37)
Canonical SPDI:: NC_000011.10:65182446:C:T
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.65182447C>T, NC_000011.9:g.64949918C>T, NG_052817.1:g.6233C>T, NG_079323.1:g.250C>T

Select item 14862714798.

rs1486271479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:65182539 (GRCh38)
11:64950010 (GRCh37)
Canonical SPDI:: NC_000011.10:65182538:G:A,NC_000011.10:65182538:G:T
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65182539G>A, NC_000011.10:g.65182539G>T, NC_000011.9:g.64950010G>A, NC_000011.9:g.64950010G>T, NG_052817.1:g.6325G>A, NG_052817.1:g.6325G>T, NG_079323.1:g.342G>A, NG_079323.1:g.342G>T, XM_011545292.2:c.-4G>A, XM_011545292.2:c.-4G>T, XM_011545292.1:c.-4G>A, XM_011545292.1:c.-4G>T

Select item 14861959069.

rs1486195906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65180130 (GRCh38)
11:64947601 (GRCh37)
Canonical SPDI:: NC_000011.10:65180129:C:T
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65180130C>T, NC_000011.9:g.64947601C>T, NG_052817.1:g.3916C>T, NR_145677.1:n.1553G>A

Select item 148545445510.

rs1485454455 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGA [Show Flanks]
Chromosome:: 11:65182911 (GRCh38)
11:64950383 (GRCh37)
Canonical SPDI:: NC_000011.10:65182911:AAGGA:AAGGAAGGA
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAGGAAGGA=0./0 (ALFA)
AAGG=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65182913_65182916dup, NC_000011.9:g.64950384_64950387dup, NG_052817.1:g.6699_6702dup, NM_005186.4:c.212_215dup, NM_005186.3:c.212_215dup, NM_001198869.2:c.212_215dup, NM_001198869.1:c.212_215dup, NM_001198868.2:c.212_215dup, NM_001198868.1:c.212_215dup, NR_040008.2:n.299_302dup, NR_040008.1:n.394_397dup, XM_006718698.3:c.212_215dup, XM_006718698.2:c.212_215dup, XM_006718698.1:c.212_215dup, XM_011545292.2:c.212_215dup, XM_011545292.1:c.212_215dup, NM_001198870.1:c.121_124dup, NP_005177.2:p.Asp72fs, NP_001185798.1:p.Asp72fs, NP_001185797.1:p.Asp72fs, XP_006718761.1:p.Asp72fs, XP_011543594.1:p.Asp72fs

Select item 148534230411.

rs1485342304 has merged into rs1307510931 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>-,GAGGAG,GAGGAGGAG [Show Flanks]
Chromosome:: 11:65181869 (GRCh38)
11:64949340 (GRCh37)
Canonical SPDI:: NC_000011.10:65181854:AGGAGGAGGAGGAGGAG:AGGAGGAGGAGGAG,NC_000011.10:65181854:AGGAGGAGGAGGAGGAG:AGGAGGAGGAGGAGGAGGAG,NC_000011.10:65181854:AGGAGGAGGAGGAGGAG:AGGAGGAGGAGGAGGAGGAGGAG
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGGAGGAGGAGGAGGAGGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
AGGAGG=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.65181857GAG[4], NC_000011.10:g.65181857GAG[6], NC_000011.10:g.65181857GAG[7], NC_000011.9:g.64949328GAG[4], NC_000011.9:g.64949328GAG[6], NC_000011.9:g.64949328GAG[7], NG_052817.1:g.5643GAG[4], NG_052817.1:g.5643GAG[6], NG_052817.1:g.5643GAG[7], NM_005186.3:c.-158GAG[4], NM_005186.3:c.-158GAG[6], NM_005186.3:c.-158GAG[7], NR_040008.1:n.25GAG[4], NR_040008.1:n.25GAG[6], NR_040008.1:n.25GAG[7], NM_001198870.1:c.-249GAG[4], NM_001198870.1:c.-249GAG[6], NM_001198870.1:c.-249GAG[7]

Select item 148439015812.

rs1484390158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:65181657 (GRCh38)
11:64949128 (GRCh37)
Canonical SPDI:: NC_000011.10:65181656:C:A,NC_000011.10:65181656:C:G
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.65181657C>A, NC_000011.10:g.65181657C>G, NC_000011.9:g.64949128C>A, NC_000011.9:g.64949128C>G, NG_052817.1:g.5443C>A, NG_052817.1:g.5443C>G, XM_006718698.3:c.-127C>A, XM_006718698.3:c.-127C>G, NR_145677.1:n.178G>T, NR_145677.1:n.178G>C

Select item 148431152913.

rs1484311529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:65183093 (GRCh38)
11:64950564 (GRCh37)
Canonical SPDI:: NC_000011.10:65183092:G:T
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: intron_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.65183093G>T, NC_000011.9:g.64950564G>T, NG_052817.1:g.6879G>T

Select item 148378506714.

rs1483785067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65182535 (GRCh38)
11:64950006 (GRCh37)
Canonical SPDI:: NC_000011.10:65182534:C:T
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.65182535C>T, NC_000011.9:g.64950006C>T, NG_052817.1:g.6321C>T, NG_079323.1:g.338C>T, XM_011545292.2:c.-8C>T, XM_011545292.1:c.-8C>T

Select item 148372003015.

rs1483720030 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 11:65180772 (GRCh38)
11:64948243 (GRCh37)
Canonical SPDI:: NC_000011.10:65180771:GC:
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65180772_65180773del, NC_000011.9:g.64948243_64948244del, NG_052817.1:g.4558_4559del, NR_145677.1:n.910_911del

Select item 148339525516.

rs1483395255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65181251 (GRCh38)
11:64948722 (GRCh37)
Canonical SPDI:: NC_000011.10:65181250:C:T
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.00004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65181251C>T, NC_000011.9:g.64948722C>T, NG_052817.1:g.5037C>T, NM_001198868.1:c.-161C>T, NR_145677.1:n.584G>A

Select item 148335744917.

rs1483357449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65180273 (GRCh38)
11:64947744 (GRCh37)
Canonical SPDI:: NC_000011.10:65180272:G:A
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00034/1 (KOREAN)
A=0.00055/1 (Korea1K)
A=0.00113/19 (TOMMO)
HGVS:: NC_000011.10:g.65180273G>A, NC_000011.9:g.64947744G>A, NG_052817.1:g.4059G>A, NR_145677.1:n.1410C>T

Select item 148331374318.

rs1483313743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65181487 (GRCh38)
11:64948958 (GRCh37)
Canonical SPDI:: NC_000011.10:65181486:G:A
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65181487G>A, NC_000011.9:g.64948958G>A, NG_052817.1:g.5273G>A, XM_006718698.3:c.-297G>A, NR_145677.1:n.348C>T

Select item 148328372919.

rs1483283729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65180453 (GRCh38)
11:64947924 (GRCh37)
Canonical SPDI:: NC_000011.10:65180452:G:A
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000045/12 (TOPMED)
HGVS:: NC_000011.10:g.65180453G>A, NC_000011.9:g.64947924G>A, NG_052817.1:g.4239G>A, NR_145677.1:n.1230C>T

Select item 148298497620.

rs1482984976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:65181687 (GRCh38)
11:64949158 (GRCh37)
Canonical SPDI:: NC_000011.10:65181686:G:C,NC_000011.10:65181686:G:T
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
C=0.011052/185 (TOMMO)
C=0.030179/81 (KOREAN)
HGVS:: NC_000011.10:g.65181687G>C, NC_000011.10:g.65181687G>T, NC_000011.9:g.64949158G>C, NC_000011.9:g.64949158G>T, NG_052817.1:g.5473G>C, NG_052817.1:g.5473G>T, XM_006718698.3:c.-97G>C, XM_006718698.3:c.-97G>T, XM_006718698.1:c.-97G>C, XM_006718698.1:c.-97G>T, NM_001198869.1:c.-158G>C, NM_001198869.1:c.-158G>T, NR_145677.1:n.148C>G, NR_145677.1:n.148C>A

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