SNP Links for Gene (Select 101752400) - SNP

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Links from Gene

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Select item 14905872321.

rs1490587232 [Homo sapiens]

Variant type:: DEL
Alleles:: AAG>- [Show Flanks]
Chromosome:: 2:240582494 (GRCh38)
2:241521911 (GRCh37)
Canonical SPDI:: NC_000002.12:240582493:AAG:
Gene:: CAPN10-DT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.240582494_240582496del, NC_000002.11:g.241521911_241521913del, NG_011558.2:g.779_781del

Select item 14903362662.

rs1490336266 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCAT [Show Flanks]
Chromosome:: 2:240587943 (GRCh38)
2:241527361 (GRCh37)
Canonical SPDI:: NC_000002.12:240587943:TCCAT:TCCATCCAT
Gene:: CAPN10 (Varview), CAPN10-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCATCCAT=0./0 (ALFA)
TCCA=0.000007/1 (GnomAD)
TCCA=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.240587945_240587948dup, NC_000002.11:g.241527362_241527365dup, NG_011558.2:g.6230_6233dup

Select item 14898088313.

rs1489808831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240586659 (GRCh38)
2:241526076 (GRCh37)
Canonical SPDI:: NC_000002.12:240586658:G:A
Gene:: CAPN10 (Varview), CAPN10-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.240586659G>A, NC_000002.11:g.241526076G>A, NG_011558.2:g.4944G>A, NG_060955.1:g.248G>A

Select item 14892575914.

rs1489257591 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:240586614 (GRCh38)
2:241526031 (GRCh37)
Canonical SPDI:: NC_000002.12:240586613:A:G,NC_000002.12:240586613:A:T
Gene:: CAPN10 (Varview), CAPN10-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.00112/2 (Korea1K)
HGVS:: NC_000002.12:g.240586614A>G, NC_000002.12:g.240586614A>T, NC_000002.11:g.241526031A>G, NC_000002.11:g.241526031A>T, NG_011558.2:g.4899A>G, NG_011558.2:g.4899A>T, NG_060955.1:g.203A>G, NG_060955.1:g.203A>T

Select item 14889520465.

rs1488952046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:240582782 (GRCh38)
2:241522199 (GRCh37)
Canonical SPDI:: NC_000002.12:240582781:G:C
Gene:: CAPN10-DT (Varview)
Functional Consequence:: 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_000002.12:g.240582782G>C, NC_000002.11:g.241522199G>C, NG_011558.2:g.1067G>C, NR_103792.1:n.3535C>G

Select item 14881766356.

rs1488176635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:240585665 (GRCh38)
2:241525082 (GRCh37)
Canonical SPDI:: NC_000002.12:240585664:C:T
Gene:: CAPN10 (Varview), CAPN10-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_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_000002.12:g.240585665C>T, NC_000002.11:g.241525082C>T, NG_011558.2:g.3950C>T, NR_103792.1:n.652G>A

Select item 14879684477.

rs1487968447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:240582389 (GRCh38)
2:241521806 (GRCh37)
Canonical SPDI:: NC_000002.12:240582388:C:T
Gene:: CAPN10-DT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.240582389C>T, NC_000002.11:g.241521806C>T, NG_011558.2:g.674C>T

Select item 14868785358.

rs1486878535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:240587778 (GRCh38)
2:241527195 (GRCh37)
Canonical SPDI:: NC_000002.12:240587777:C:T
Gene:: CAPN10 (Varview), CAPN10-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.240587778C>T, NC_000002.11:g.241527195C>T, NG_011558.2:g.6063C>T

Select item 14868144259.

rs1486814425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240584832 (GRCh38)
2:241524249 (GRCh37)
Canonical SPDI:: NC_000002.12:240584831:G:A
Gene:: CAPN10 (Varview), CAPN10-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.240584832G>A, NC_000002.11:g.241524249G>A, NG_011558.2:g.3117G>A, NR_103792.1:n.1485C>T

Select item 148669368010.

rs1486693680 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:240586092 (GRCh38)
2:241525509 (GRCh37)
Canonical SPDI:: NC_000002.12:240586091:G:A,NC_000002.12:240586091:G:C
Gene:: CAPN10 (Varview), CAPN10-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.240586092G>A, NC_000002.12:g.240586092G>C, NC_000002.11:g.241525509G>A, NC_000002.11:g.241525509G>C, NG_011558.2:g.4377G>A, NG_011558.2:g.4377G>C, NR_103792.1:n.225C>T, NR_103792.1:n.225C>G

Select item 148640127111.

rs1486401271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240586106 (GRCh38)
2:241525523 (GRCh37)
Canonical SPDI:: NC_000002.12:240586105:G:A
Gene:: CAPN10 (Varview), CAPN10-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00005/7 (GnomAD)
HGVS:: NC_000002.12:g.240586106G>A, NC_000002.11:g.241525523G>A, NG_011558.2:g.4391G>A, NR_103792.1:n.211C>T

Select item 148639155412.

rs1486391554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:240588081 (GRCh38)
2:241527498 (GRCh37)
Canonical SPDI:: NC_000002.12:240588080:A:C
Gene:: CAPN10 (Varview), CAPN10-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.240588081A>C, NC_000002.11:g.241527498A>C, NG_011558.2:g.6366A>C

Select item 148610488613.

rs1486104886 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:240588310 (GRCh38)
2:241527727 (GRCh37)
Canonical SPDI:: NC_000002.12:240588309:T:G
Gene:: CAPN10 (Varview), CAPN10-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.240588310T>G, NC_000002.11:g.241527727T>G, NG_011558.2:g.6595T>G

Select item 148583363814.

rs1485833638 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:240584455 (GRCh38)
2:241523872 (GRCh37)
Canonical SPDI:: NC_000002.12:240584454:A:G,NC_000002.12:240584454:A:T
Gene:: CAPN10-DT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.240584455A>G, NC_000002.12:g.240584455A>T, NC_000002.11:g.241523872A>G, NC_000002.11:g.241523872A>T, NG_011558.2:g.2740A>G, NG_011558.2:g.2740A>T, NR_103792.1:n.1862T>C, NR_103792.1:n.1862T>A

Select item 148583171015.

rs1485831710 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:240584995 (GRCh38)
2:241524412 (GRCh37)
Canonical SPDI:: NC_000002.12:240584994:T:G
Gene:: CAPN10 (Varview), CAPN10-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.240584995T>G, NC_000002.11:g.241524412T>G, NG_011558.2:g.3280T>G, NR_103792.1:n.1322A>C

Select item 148571022216.

rs1485710222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:240586782 (GRCh38)
2:241526199 (GRCh37)
Canonical SPDI:: NC_000002.12:240586781:C:G,NC_000002.12:240586781:C:T
Gene:: CAPN10 (Varview), CAPN10-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.240586782C>G, NC_000002.12:g.240586782C>T, NC_000002.11:g.241526199C>G, NC_000002.11:g.241526199C>T, NG_011558.2:g.5067C>G, NG_011558.2:g.5067C>T, NM_023083.4:c.-130C>G, NM_023083.4:c.-130C>T, NM_023083.3:c.-130C>G, NM_023083.3:c.-130C>T, NM_023085.4:c.-130C>G, NM_023085.4:c.-130C>T, NM_023085.3:c.-130C>G, NM_023085.3:c.-130C>T, NG_060955.1:g.371C>G, NG_060955.1:g.371C>T, NM_021251.3:c.-130C>G, NM_021251.3:c.-130C>T, NM_021251.2:c.-130C>G, NM_021251.2:c.-130C>T, NM_023089.1:c.-130C>G, NM_023089.1:c.-130C>T, NM_023087.1:c.-130C>G, NM_023087.1:c.-130C>T, NM_023088.1:c.-130C>G, NM_023088.1:c.-130C>T, NM_023084.1:c.-130C>G, NM_023084.1:c.-130C>T, NM_023086.1:c.-130C>G, NM_023086.1:c.-130C>T

Select item 148480329917.

rs1484803299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240584957 (GRCh38)
2:241524374 (GRCh37)
Canonical SPDI:: NC_000002.12:240584956:G:A
Gene:: CAPN10 (Varview), CAPN10-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.240584957G>A, NC_000002.11:g.241524374G>A, NG_011558.2:g.3242G>A, NR_103792.1:n.1360C>T

Select item 148461357018.

rs1484613570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:240586973 (GRCh38)
2:241526390 (GRCh37)
Canonical SPDI:: NC_000002.12:240586972:C:A
Gene:: CAPN10 (Varview), CAPN10-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.240586973C>A, NC_000002.11:g.241526390C>A, NG_011558.2:g.5258C>A, NM_023083.4:c.62C>A, NM_023083.3:c.62C>A, NM_023085.4:c.62C>A, NM_023085.3:c.62C>A, NM_021251.3:c.62C>A, NM_021251.2:c.62C>A, NM_023089.1:c.62C>A, NM_023087.1:c.62C>A, NM_023088.1:c.62C>A, NM_023084.1:c.62C>A, NM_023086.1:c.62C>A, NM_021251.1:c.62C>A, NP_075571.2:p.Ala21Asp, NP_075573.3:p.Ala21Asp

Select item 148452113319.

rs1484521133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240587157 (GRCh38)
2:241526574 (GRCh37)
Canonical SPDI:: NC_000002.12:240587156:G:A
Gene:: CAPN10 (Varview), CAPN10-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_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_000002.12:g.240587157G>A, NC_000002.11:g.241526574G>A, NG_011558.2:g.5442G>A

Select item 148429084820.

rs1484290848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:240583099 (GRCh38)
2:241522516 (GRCh37)
Canonical SPDI:: NC_000002.12:240583098:C:T
Gene:: CAPN10-DT (Varview)
Functional Consequence:: non_coding_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_000002.12:g.240583099C>T, NC_000002.11:g.241522516C>T, NG_011558.2:g.1384C>T, NR_103792.1:n.3218G>A