SNP Links for Gene (Select 58529) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14905718851.

rs1490571885 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:73636462 (GRCh38)
10:75396220 (GRCh37)
Canonical SPDI:: NC_000010.11:73636461:T:A,NC_000010.11:73636461:T:C
Gene:: MYOZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000012/1 (GnomAD)
HGVS:: NC_000010.11:g.73636462T>A, NC_000010.11:g.73636462T>C, NC_000010.10:g.75396220T>A, NC_000010.10:g.75396220T>C, NG_032583.1:g.10296A>T, NG_032583.1:g.10296A>G

Select item 14905161192.

rs1490516119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:73637763 (GRCh38)
10:75397521 (GRCh37)
Canonical SPDI:: NC_000010.11:73637762:A:G
Gene:: MYOZ1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.73637763A>G, NC_000010.10:g.75397521A>G, NG_032583.1:g.8995T>C, NM_021245.4:c.233T>C, NM_021245.3:c.233T>C, NP_067068.1:p.Val78Ala

Select item 14902559553.

rs1490255955 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:73639830 (GRCh38)
10:75399589 (GRCh37)
Canonical SPDI:: NC_000010.11:73639830:TT:TTT
Gene:: MYOZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000010.11:g.73639832dup, NC_000010.10:g.75399590dup, NG_032583.1:g.6927dup

Select item 14895309444.

rs1489530944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:73641863 (GRCh38)
10:75401621 (GRCh37)
Canonical SPDI:: NC_000010.11:73641862:C:T
Gene:: MYOZ1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.73641863C>T, NC_000010.10:g.75401621C>T, NG_032583.1:g.4895G>A

Select item 14893341725.

rs1489334172 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:73633893 (GRCh38)
10:75393651 (GRCh37)
Canonical SPDI:: NC_000010.11:73633892:C:G,NC_000010.11:73633892:C:T
Gene:: MYOZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.73633893C>G, NC_000010.11:g.73633893C>T, NC_000010.10:g.75393651C>G, NC_000010.10:g.75393651C>T, NG_032583.1:g.12865G>C, NG_032583.1:g.12865G>A

Select item 14892756456.

rs1489275645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:73641178 (GRCh38)
10:75400936 (GRCh37)
Canonical SPDI:: NC_000010.11:73641177:G:A
Gene:: MYOZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.73641178G>A, NC_000010.10:g.75400936G>A, NG_032583.1:g.5580C>T

Select item 14890685277.

rs1489068527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:73635357 (GRCh38)
10:75395115 (GRCh37)
Canonical SPDI:: NC_000010.11:73635356:C:G
Gene:: MYOZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.73635357C>G, NC_000010.10:g.75395115C>G, NG_032583.1:g.11401G>C

Select item 14884096108.

rs1488409610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:73643337 (GRCh38)
10:75403095 (GRCh37)
Canonical SPDI:: NC_000010.11:73643336:C:T
Gene:: MYOZ1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000038/10 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000010.11:g.73643337C>T, NC_000010.10:g.75403095C>T, NG_032583.1:g.3421G>A

Select item 14882352179.

rs1488235217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:73631770 (GRCh38)
10:75391528 (GRCh37)
Canonical SPDI:: NC_000010.11:73631769:G:A
Gene:: MYOZ1 (Varview)
Functional Consequence:: 3_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_000010.11:g.73631770G>A, NC_000010.10:g.75391528G>A, NG_032583.1:g.14988C>T, NM_021245.4:c.*160C>T, NM_021245.3:c.*160C>T

Select item 148817907710.

rs1488179077 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:73633382 (GRCh38)
10:75393140 (GRCh37)
Canonical SPDI:: NC_000010.11:73633381:A:C
Gene:: MYOZ1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000010.11:g.73633382A>C, NC_000010.10:g.75393140A>C, NG_032583.1:g.13376T>G

Select item 148787213711.

rs1487872137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:73642583 (GRCh38)
10:75402341 (GRCh37)
Canonical SPDI:: NC_000010.11:73642582:C:T
Gene:: MYOZ1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.73642583C>T, NC_000010.10:g.75402341C>T, NG_032583.1:g.4175G>A

Select item 148738033712.

rs1487380337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:73634945 (GRCh38)
10:75394703 (GRCh37)
Canonical SPDI:: NC_000010.11:73634944:A:G
Gene:: MYOZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.73634945A>G, NC_000010.10:g.75394703A>G, NG_032583.1:g.11813T>C

Select item 148695766313.

rs1486957663 has merged into rs989769599 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 10:73632626 (GRCh38)
10:75392384 (GRCh37)
Canonical SPDI:: NC_000010.11:73632625:AAAAAAAAA:AAAAAAAA,NC_000010.11:73632625:AAAAAAAAA:AAAAAAAAAA
Gene:: MYOZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.73632634del, NC_000010.11:g.73632634dup, NC_000010.10:g.75392392del, NC_000010.10:g.75392392dup, NG_032583.1:g.14132del, NG_032583.1:g.14132dup

Select item 148693356014.

rs1486933560 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:73643525 (GRCh38)
10:75403283 (GRCh37)
Canonical SPDI:: NC_000010.11:73643524:T:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.73643525T>A, NC_000010.10:g.75403283T>A, NG_032583.1:g.3233A>T

Select item 148629393015.

rs1486293930 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:73640234 (GRCh38)
10:75399992 (GRCh37)
Canonical SPDI:: NC_000010.11:73640233:A:G
Gene:: MYOZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.73640234A>G, NC_000010.10:g.75399992A>G, NG_032583.1:g.6524T>C

Select item 148613415216.

rs1486134152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:73634995 (GRCh38)
10:75394753 (GRCh37)
Canonical SPDI:: NC_000010.11:73634994:G:A
Gene:: MYOZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000010.11:g.73634995G>A, NC_000010.10:g.75394753G>A, NG_032583.1:g.11763C>T

Select item 148606232417.

rs1486062324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:73632972 (GRCh38)
10:75392730 (GRCh37)
Canonical SPDI:: NC_000010.11:73632971:T:A
Gene:: MYOZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.73632972T>A, NC_000010.10:g.75392730T>A, NG_032583.1:g.13786A>T

Select item 148592913918.

rs1485929139 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:73637254 (GRCh38)
10:75397012 (GRCh37)
Canonical SPDI:: NC_000010.11:73637253:A:G
Gene:: MYOZ1 (Varview)
Functional Consequence:: intron_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_000010.11:g.73637254A>G, NC_000010.10:g.75397012A>G, NG_032583.1:g.9504T>C

Select item 148587752119.

rs1485877521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:73636065 (GRCh38)
10:75395823 (GRCh37)
Canonical SPDI:: NC_000010.11:73636064:A:G
Gene:: MYOZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.73636065A>G, NC_000010.10:g.75395823A>G, NG_032583.1:g.10693T>C

Select item 148571996620.

rs1485719966 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:73639651 (GRCh38)
10:75399409 (GRCh37)
Canonical SPDI:: NC_000010.11:73639650:A:G,NC_000010.11:73639650:A:T
Gene:: MYOZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.73639651A>G, NC_000010.11:g.73639651A>T, NC_000010.10:g.75399409A>G, NC_000010.10:g.75399409A>T, NG_032583.1:g.7107T>C, NG_032583.1:g.7107T>A

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity