SNP Links for Gene (Select 825) - SNP

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Select item 14915579991.

rs1491557999 has merged into rs35924291 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 15:42401484 (GRCh38)
15:42693682 (GRCh37)
Canonical SPDI:: NC_000015.10:42401473:CCCCCCCCCCCCCC:CCCCCCCCCC,NC_000015.10:42401473:CCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000015.10:42401473:CCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000015.10:42401473:CCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000015.10:42401473:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000015.10:42401473:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC
Gene:: CAPN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCC=0./0 (ALFA)
-=0.2216/854 (ALSPAC)
-=0.2462/1233 (1000Genomes)
HGVS:: NC_000015.10:g.42401484_42401487del, NC_000015.10:g.42401485_42401487del, NC_000015.10:g.42401486_42401487del, NC_000015.10:g.42401487del, NC_000015.10:g.42401487dup, NC_000015.10:g.42401486_42401487dup, NC_000015.9:g.42693682_42693685del, NC_000015.9:g.42693683_42693685del, NC_000015.9:g.42693684_42693685del, NC_000015.9:g.42693685del, NC_000015.9:g.42693685dup, NC_000015.9:g.42693684_42693685dup, NG_008660.1:g.58382_58385del, NG_008660.1:g.58383_58385del, NG_008660.1:g.58384_58385del, NG_008660.1:g.58385del, NG_008660.1:g.58385dup, NG_008660.1:g.58384_58385dup

Select item 14915556352.

rs1491555635 [Homo sapiens]

Variant type:: INS
Alleles:: ->CACACG,CACG,CG [Show Flanks]
Chromosome:: 15:42398635 (GRCh38)
15:42690834 (GRCh37)
Canonical SPDI:: NC_000015.10:42398635::CACACG,NC_000015.10:42398635::CACG,NC_000015.10:42398635::CG
Gene:: CAPN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACG=0./0 (ALFA)
CG=0.00007/2 (TOMMO)
HGVS:: NC_000015.10:g.42398635_42398636insCACACG, NC_000015.10:g.42398635_42398636insCACG, NC_000015.10:g.42398635_42398636insCG, NC_000015.9:g.42690833_42690834insCACACG, NC_000015.9:g.42690833_42690834insCACG, NC_000015.9:g.42690833_42690834insCG, NG_008660.1:g.55533_55534insCACACG, NG_008660.1:g.55533_55534insCACG, NG_008660.1:g.55533_55534insCG

Select item 14915357363.

rs1491535736 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 15:42411689 (GRCh38)
15:42703888 (GRCh37)
Canonical SPDI:: NC_000015.10:42411689:G:GCG
Gene:: CAPN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GCG=0./0 (ALFA)
HGVS:: NC_000015.10:g.42411690_42411691insCG, NC_000015.9:g.42703888_42703889insCG, NG_008660.1:g.68588_68589insCG

Select item 14915349914.

rs1491534991 has merged into rs66487749 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:42374805 (GRCh38)
15:42667003 (GRCh37)
Canonical SPDI:: NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42374794:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CAPN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000038/10 (TOPMED)
T=0.305556/11 (GENOME_DK)
HGVS:: NC_000015.10:g.42374805_42374818del, NC_000015.10:g.42374807_42374818del, NC_000015.10:g.42374808_42374818del, NC_000015.10:g.42374809_42374818del, NC_000015.10:g.42374811_42374818del, NC_000015.10:g.42374812_42374818del, NC_000015.10:g.42374814_42374818del, NC_000015.10:g.42374815_42374818del, NC_000015.10:g.42374816_42374818del, NC_000015.10:g.42374817_42374818del, NC_000015.10:g.42374818del, NC_000015.10:g.42374818dup, NC_000015.10:g.42374817_42374818dup, NC_000015.10:g.42374816_42374818dup, NC_000015.10:g.42374815_42374818dup, NC_000015.10:g.42374814_42374818dup, NC_000015.10:g.42374813_42374818dup, NC_000015.10:g.42374812_42374818dup, NC_000015.10:g.42374811_42374818dup, NC_000015.10:g.42374810_42374818dup, NC_000015.10:g.42374802_42374818dup, NC_000015.10:g.42374818_42374819insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.42374818_42374819insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.42667003_42667016del, NC_000015.9:g.42667005_42667016del, NC_000015.9:g.42667006_42667016del, NC_000015.9:g.42667007_42667016del, NC_000015.9:g.42667009_42667016del, NC_000015.9:g.42667010_42667016del, NC_000015.9:g.42667012_42667016del, NC_000015.9:g.42667013_42667016del, NC_000015.9:g.42667014_42667016del, NC_000015.9:g.42667015_42667016del, NC_000015.9:g.42667016del, NC_000015.9:g.42667016dup, NC_000015.9:g.42667015_42667016dup, NC_000015.9:g.42667014_42667016dup, NC_000015.9:g.42667013_42667016dup, NC_000015.9:g.42667012_42667016dup, NC_000015.9:g.42667011_42667016dup, NC_000015.9:g.42667010_42667016dup, NC_000015.9:g.42667009_42667016dup, NC_000015.9:g.42667008_42667016dup, NC_000015.9:g.42667000_42667016dup, NC_000015.9:g.42667016_42667017insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.42667016_42667017insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008660.1:g.31703_31716del, NG_008660.1:g.31705_31716del, NG_008660.1:g.31706_31716del, NG_008660.1:g.31707_31716del, NG_008660.1:g.31709_31716del, NG_008660.1:g.31710_31716del, NG_008660.1:g.31712_31716del, NG_008660.1:g.31713_31716del, NG_008660.1:g.31714_31716del, NG_008660.1:g.31715_31716del, NG_008660.1:g.31716del, NG_008660.1:g.31716dup, NG_008660.1:g.31715_31716dup, NG_008660.1:g.31714_31716dup, NG_008660.1:g.31713_31716dup, NG_008660.1:g.31712_31716dup, NG_008660.1:g.31711_31716dup, NG_008660.1:g.31710_31716dup, NG_008660.1:g.31709_31716dup, NG_008660.1:g.31708_31716dup, NG_008660.1:g.31700_31716dup, NG_008660.1:g.31716_31717insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008660.1:g.31716_31717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915345075.

rs1491534507 has merged into rs199564761 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 15:42393607 (GRCh38)
15:42685805 (GRCh37)
Canonical SPDI:: NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:42393595:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: CAPN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.03/18 (NorthernSweden)
-=0.30811/1543 (1000Genomes)
HGVS:: NC_000015.10:g.42393607_42393611del, NC_000015.10:g.42393608_42393611del, NC_000015.10:g.42393609_42393611del, NC_000015.10:g.42393610_42393611del, NC_000015.10:g.42393611del, NC_000015.10:g.42393611dup, NC_000015.10:g.42393610_42393611dup, NC_000015.10:g.42393609_42393611dup, NC_000015.10:g.42393608_42393611dup, NC_000015.10:g.42393607_42393611dup, NC_000015.9:g.42685805_42685809del, NC_000015.9:g.42685806_42685809del, NC_000015.9:g.42685807_42685809del, NC_000015.9:g.42685808_42685809del, NC_000015.9:g.42685809del, NC_000015.9:g.42685809dup, NC_000015.9:g.42685808_42685809dup, NC_000015.9:g.42685807_42685809dup, NC_000015.9:g.42685806_42685809dup, NC_000015.9:g.42685805_42685809dup, NG_008660.1:g.50505_50509del, NG_008660.1:g.50506_50509del, NG_008660.1:g.50507_50509del, NG_008660.1:g.50508_50509del, NG_008660.1:g.50509del, NG_008660.1:g.50509dup, NG_008660.1:g.50508_50509dup, NG_008660.1:g.50507_50509dup, NG_008660.1:g.50506_50509dup, NG_008660.1:g.50505_50509dup

Select item 14914916696.

rs1491491669 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 15:42385561 (GRCh38)
15:42677759 (GRCh37)
Canonical SPDI:: NC_000015.10:42385559:AAA:A
Gene:: CAPN3 (Varview), LOC105370794 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000735/12 (ALFA)
-=0.001183/164 (GnomAD)
HGVS:: NC_000015.10:g.42385561_42385562del, NC_000015.9:g.42677759_42677760del, NG_008660.1:g.42459_42460del

Select item 14914671747.

rs1491467174 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:42385560 (GRCh38)
15:42677759 (GRCh37)
Canonical SPDI:: NC_000015.10:42385560::G
Gene:: CAPN3 (Varview), LOC105370794 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000843/117 (GnomAD)
HGVS:: NC_000015.10:g.42385560_42385561insG, NC_000015.9:g.42677758_42677759insG, NG_008660.1:g.42458_42459insG

Select item 14914051378.

rs1491405137 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 15:42393596 (GRCh38)
15:42685795 (GRCh37)
Canonical SPDI:: NC_000015.10:42393596:TT:TTCTT
Gene:: CAPN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.42393598_42393599insCTT, NC_000015.9:g.42685796_42685797insCTT, NG_008660.1:g.50496_50497insCTT

Select item 14912983299.

rs1491298329 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATA,ATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 15:42380752 (GRCh38)
15:42672951 (GRCh37)
Canonical SPDI:: NC_000015.10:42380752::A,NC_000015.10:42380752::ATA,NC_000015.10:42380752::ATATA,NC_000015.10:42380752::ATATATA,NC_000015.10:42380752::ATATATATA,NC_000015.10:42380752::ATATATATATA,NC_000015.10:42380752::ATATATATATATA,NC_000015.10:42380752::ATATATATATATATA,NC_000015.10:42380752::ATATATATATATATATA,NC_000015.10:42380752::ATATATATATATATATATA,NC_000015.10:42380752::ATATATATATATATATATATATA,NC_000015.10:42380752::ATATATATATATATATATATATATA,NC_000015.10:42380752::ATATATATATATATATATATATATATA,NC_000015.10:42380752::ATATATATATATATATATATATATATATATA
Gene:: CAPN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.15538/78 (NorthernSweden)
HGVS:: NC_000015.10:g.42380752_42380753insA, NC_000015.10:g.42380752_42380753insATA, NC_000015.10:g.42380752_42380753insATATA, NC_000015.10:g.42380752_42380753insATATATA, NC_000015.10:g.42380752_42380753insATATATATA, NC_000015.10:g.42380752_42380753insATATATATATA, NC_000015.10:g.42380752_42380753insATATATATATATA, NC_000015.10:g.42380752_42380753insATATATATATATATA, NC_000015.10:g.42380752_42380753insATATATATATATATATA, NC_000015.10:g.42380752_42380753insATATATATATATATATATA, NC_000015.10:g.42380752_42380753insATATATATATATATATATATATA, NC_000015.10:g.42380752_42380753insATATATATATATATATATATATATA, NC_000015.10:g.42380752_42380753insATATATATATATATATATATATATATA, NC_000015.10:g.42380752_42380753insATATATATATATATATATATATATATATATA, NC_000015.9:g.42672950_42672951insA, NC_000015.9:g.42672950_42672951insATA, NC_000015.9:g.42672950_42672951insATATA, NC_000015.9:g.42672950_42672951insATATATA, NC_000015.9:g.42672950_42672951insATATATATA, NC_000015.9:g.42672950_42672951insATATATATATA, NC_000015.9:g.42672950_42672951insATATATATATATA, NC_000015.9:g.42672950_42672951insATATATATATATATA, NC_000015.9:g.42672950_42672951insATATATATATATATATA, NC_000015.9:g.42672950_42672951insATATATATATATATATATA, NC_000015.9:g.42672950_42672951insATATATATATATATATATATATA, NC_000015.9:g.42672950_42672951insATATATATATATATATATATATATA, NC_000015.9:g.42672950_42672951insATATATATATATATATATATATATATA, NC_000015.9:g.42672950_42672951insATATATATATATATATATATATATATATATA, NG_008660.1:g.37650_37651insA, NG_008660.1:g.37650_37651insATA, NG_008660.1:g.37650_37651insATATA, NG_008660.1:g.37650_37651insATATATA, NG_008660.1:g.37650_37651insATATATATA, NG_008660.1:g.37650_37651insATATATATATA, NG_008660.1:g.37650_37651insATATATATATATA, NG_008660.1:g.37650_37651insATATATATATATATA, NG_008660.1:g.37650_37651insATATATATATATATATA, NG_008660.1:g.37650_37651insATATATATATATATATATA, NG_008660.1:g.37650_37651insATATATATATATATATATATATA, NG_008660.1:g.37650_37651insATATATATATATATATATATATATA, NG_008660.1:g.37650_37651insATATATATATATATATATATATATATA, NG_008660.1:g.37650_37651insATATATATATATATATATATATATATATATA

Select item 149124956510.

rs1491249565 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTTTTTTTTTTTTTTTTTTTTTG
Chromosome:: no mapping
Canonical SPDI:

Select item 149124153111.

rs1491241531 has merged into rs1156434789 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TA,TATA,TATATA,TATATATATA [Show Flanks]
Chromosome:: 15:42398636 (GRCh38)
15:42690834 (GRCh37)
Canonical SPDI:: NC_000015.10:42398634:ATATATATA:A,NC_000015.10:42398634:ATATATATA:ATA,NC_000015.10:42398634:ATATATATA:ATATA,NC_000015.10:42398634:ATATATATA:ATATATA,NC_000015.10:42398634:ATATATATA:ATATATATATA
Gene:: CAPN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
-=0.00985/18 (Korea1K)
HGVS:: NC_000015.10:g.42398636_42398643del, NC_000015.10:g.42398636TA[1], NC_000015.10:g.42398636TA[2], NC_000015.10:g.42398636TA[3], NC_000015.10:g.42398636TA[5], NC_000015.9:g.42690834_42690841del, NC_000015.9:g.42690834TA[1], NC_000015.9:g.42690834TA[2], NC_000015.9:g.42690834TA[3], NC_000015.9:g.42690834TA[5], NG_008660.1:g.55534_55541del, NG_008660.1:g.55534TA[1], NG_008660.1:g.55534TA[2], NG_008660.1:g.55534TA[3], NG_008660.1:g.55534TA[5]

Select item 149123650412.

rs1491236504 has merged into rs748584513 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:42369880 (GRCh38)
15:42662078 (GRCh37)
Canonical SPDI:: NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CAPN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.05184/31 (NorthernSweden)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000015.10:g.42369880_42369888del, NC_000015.10:g.42369881_42369888del, NC_000015.10:g.42369884_42369888del, NC_000015.10:g.42369885_42369888del, NC_000015.10:g.42369886_42369888del, NC_000015.10:g.42369887_42369888del, NC_000015.10:g.42369888del, NC_000015.10:g.42369888dup, NC_000015.10:g.42369887_42369888dup, NC_000015.10:g.42369886_42369888dup, NC_000015.10:g.42369885_42369888dup, NC_000015.10:g.42369884_42369888dup, NC_000015.10:g.42369882_42369888dup, NC_000015.10:g.42369881_42369888dup, NC_000015.10:g.42369880_42369888dup, NC_000015.10:g.42369878_42369888dup, NC_000015.10:g.42369877_42369888dup, NC_000015.9:g.42662078_42662086del, NC_000015.9:g.42662079_42662086del, NC_000015.9:g.42662082_42662086del, NC_000015.9:g.42662083_42662086del, NC_000015.9:g.42662084_42662086del, NC_000015.9:g.42662085_42662086del, NC_000015.9:g.42662086del, NC_000015.9:g.42662086dup, NC_000015.9:g.42662085_42662086dup, NC_000015.9:g.42662084_42662086dup, NC_000015.9:g.42662083_42662086dup, NC_000015.9:g.42662082_42662086dup, NC_000015.9:g.42662080_42662086dup, NC_000015.9:g.42662079_42662086dup, NC_000015.9:g.42662078_42662086dup, NC_000015.9:g.42662076_42662086dup, NC_000015.9:g.42662075_42662086dup, NG_008660.1:g.26778_26786del, NG_008660.1:g.26779_26786del, NG_008660.1:g.26782_26786del, NG_008660.1:g.26783_26786del, NG_008660.1:g.26784_26786del, NG_008660.1:g.26785_26786del, NG_008660.1:g.26786del, NG_008660.1:g.26786dup, NG_008660.1:g.26785_26786dup, NG_008660.1:g.26784_26786dup, NG_008660.1:g.26783_26786dup, NG_008660.1:g.26782_26786dup, NG_008660.1:g.26780_26786dup, NG_008660.1:g.26779_26786dup, NG_008660.1:g.26778_26786dup, NG_008660.1:g.26776_26786dup, NG_008660.1:g.26775_26786dup

Select item 149118854713.

rs1491188547 has merged into rs148849340 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 15:42385521 (GRCh38)
15:42677719 (GRCh37)
Canonical SPDI:: NC_000015.10:42385510:TATATATATATATA:TATATATATA,NC_000015.10:42385510:TATATATATATATA:TATATATATATA,NC_000015.10:42385510:TATATATATATATA:TATATATATATATATA
Gene:: CAPN3 (Varview), LOC105370794 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATA=0.00037/6 (ALFA)
TA=0.00078/13 (TOMMO)
TA=0.00134/6 (Estonian)
-=0.00655/12 (Korea1K)
HGVS:: NC_000015.10:g.42385511TA[5], NC_000015.10:g.42385511TA[6], NC_000015.10:g.42385511TA[8], NC_000015.9:g.42677709TA[5], NC_000015.9:g.42677709TA[6], NC_000015.9:g.42677709TA[8], NG_008660.1:g.42409TA[5], NG_008660.1:g.42409TA[6], NG_008660.1:g.42409TA[8]

Select item 149118244314.

rs1491182443 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 15:42369871 (GRCh38)
15:42662070 (GRCh37)
Canonical SPDI:: NC_000015.10:42369871:TT:TTCTT
Gene:: CAPN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0.00017/2 (ALFA)
TTC=0.00033/24 (GnomAD)
HGVS:: NC_000015.10:g.42369873_42369874insCTT, NC_000015.9:g.42662071_42662072insCTT, NG_008660.1:g.26771_26772insCTT

Select item 149115065615.

rs1491150656 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:42409863 (GRCh38)
15:42702061 (GRCh37)
Canonical SPDI:: NC_000015.10:42409862:AT:
Gene:: CAPN3 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000015.10:g.42409863_42409864del, NC_000015.9:g.42702061_42702062del, NG_008660.1:g.66761_66762del

Select item 149110109616.

rs1491101096 has merged into rs59923448 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:42380763 (GRCh38)
15:42672961 (GRCh37)
Canonical SPDI:: NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:42380751:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CAPN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.2068/110 (NorthernSweden)
HGVS:: NC_000015.10:g.42380763_42380771del, NC_000015.10:g.42380764_42380771del, NC_000015.10:g.42380765_42380771del, NC_000015.10:g.42380766_42380771del, NC_000015.10:g.42380767_42380771del, NC_000015.10:g.42380768_42380771del, NC_000015.10:g.42380769_42380771del, NC_000015.10:g.42380770_42380771del, NC_000015.10:g.42380771del, NC_000015.10:g.42380771dup, NC_000015.10:g.42380770_42380771dup, NC_000015.10:g.42380769_42380771dup, NC_000015.10:g.42380768_42380771dup, NC_000015.10:g.42380767_42380771dup, NC_000015.10:g.42380766_42380771dup, NC_000015.10:g.42380765_42380771dup, NC_000015.10:g.42380764_42380771dup, NC_000015.10:g.42380762_42380771dup, NC_000015.10:g.42380760_42380771dup, NC_000015.10:g.42380753_42380771dup, NC_000015.9:g.42672961_42672969del, NC_000015.9:g.42672962_42672969del, NC_000015.9:g.42672963_42672969del, NC_000015.9:g.42672964_42672969del, NC_000015.9:g.42672965_42672969del, NC_000015.9:g.42672966_42672969del, NC_000015.9:g.42672967_42672969del, NC_000015.9:g.42672968_42672969del, NC_000015.9:g.42672969del, NC_000015.9:g.42672969dup, NC_000015.9:g.42672968_42672969dup, NC_000015.9:g.42672967_42672969dup, NC_000015.9:g.42672966_42672969dup, NC_000015.9:g.42672965_42672969dup, NC_000015.9:g.42672964_42672969dup, NC_000015.9:g.42672963_42672969dup, NC_000015.9:g.42672962_42672969dup, NC_000015.9:g.42672960_42672969dup, NC_000015.9:g.42672958_42672969dup, NC_000015.9:g.42672951_42672969dup, NG_008660.1:g.37661_37669del, NG_008660.1:g.37662_37669del, NG_008660.1:g.37663_37669del, NG_008660.1:g.37664_37669del, NG_008660.1:g.37665_37669del, NG_008660.1:g.37666_37669del, NG_008660.1:g.37667_37669del, NG_008660.1:g.37668_37669del, NG_008660.1:g.37669del, NG_008660.1:g.37669dup, NG_008660.1:g.37668_37669dup, NG_008660.1:g.37667_37669dup, NG_008660.1:g.37666_37669dup, NG_008660.1:g.37665_37669dup, NG_008660.1:g.37664_37669dup, NG_008660.1:g.37663_37669dup, NG_008660.1:g.37662_37669dup, NG_008660.1:g.37660_37669dup, NG_008660.1:g.37658_37669dup, NG_008660.1:g.37651_37669dup

Select item 149100270817.

rs1491002708 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:42384179 (GRCh38)
15:42676377 (GRCh37)
Canonical SPDI:: NC_000015.10:42384178:C:T
Gene:: CAPN3 (Varview), LOC105370794 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000071/2 (TOMMO)
HGVS:: NC_000015.10:g.42384179C>T, NC_000015.9:g.42676377C>T, NG_008660.1:g.41077C>T

Select item 149094306018.

rs1490943060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:42398870 (GRCh38)
15:42691068 (GRCh37)
Canonical SPDI:: NC_000015.10:42398869:C:T
Gene:: CAPN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000015.10:g.42398870C>T, NC_000015.9:g.42691068C>T, NG_008660.1:g.55768C>T

Select item 149093646419.

rs1490936464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:42396261 (GRCh38)
15:42688459 (GRCh37)
Canonical SPDI:: NC_000015.10:42396260:G:T
Gene:: CAPN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0015/23 (ALFA)
T=0.00729/122 (TOMMO)
T=0.08487/248 (KOREAN)
HGVS:: NC_000015.10:g.42396261G>T, NC_000015.9:g.42688459G>T, NG_008660.1:g.53159G>T

Select item 149086692520.

rs1490866925 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:42368645 (GRCh38)
15:42660843 (GRCh37)
Canonical SPDI:: NC_000015.10:42368644:A:C
Gene:: CAPN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.42368645A>C, NC_000015.9:g.42660843A>C, NG_008660.1:g.25543A>C

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