SNP Links for Gene (Select 60314) - SNP

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Select item 14915521531.

rs1491552153 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:53304859 (GRCh38)
12:53698643 (GRCh37)
Canonical SPDI:: NC_000012.12:53304858:AT:
Gene:: MYG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000072/8 (GnomAD)
HGVS:: NC_000012.12:g.53304859_53304860del, NC_000012.11:g.53698643_53698644del, NW_025791795.1:g.28616_28617del

Select item 14911289042.

rs1491128904 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTTTTT [Show Flanks]
Chromosome:: 12:53304859 (GRCh38)
12:53698644 (GRCh37)
Canonical SPDI:: NC_000012.12:53304859:TGTTTTTTTT:TGTTTTTTTTGTTTTTTTT
Gene:: MYG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TGTTTTTTT=0.00007/7 (GnomAD)
HGVS:: NC_000012.12:g.53304861_53304869dup, NC_000012.11:g.53698645_53698653dup, NW_025791795.1:g.28632_28637dup, NW_025791795.1:g.28619_28626T[8]GTTTTTTTTTTTTTT[1]

Select item 14909509553.

rs1490950955 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53304536 (GRCh38)
12:53698320 (GRCh37)
Canonical SPDI:: NC_000012.12:53304535:T:C
Gene:: MYG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53304536T>C, NC_000012.11:g.53698320T>C, NW_025791795.1:g.28295T>C

Select item 14898856724.

rs1489885672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53301352 (GRCh38)
12:53695136 (GRCh37)
Canonical SPDI:: NC_000012.12:53301351:C:T
Gene:: MYG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53301352C>T, NC_000012.11:g.53695136C>T, NG_029695.1:g.10902C>T, NW_025791795.1:g.25111C>T

Select item 14896355145.

rs1489635514 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:53305185 (GRCh38)
12:53698969 (GRCh37)
Canonical SPDI:: NC_000012.12:53305184:T:G
Gene:: MYG1 (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)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
G=0.001097/18 (TOMMO)
HGVS:: NC_000012.12:g.53305185T>G, NC_000012.11:g.53698969T>G, NW_025791795.1:g.28935T>G

Select item 14890679786.

rs1489067978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53299752 (GRCh38)
12:53693536 (GRCh37)
Canonical SPDI:: NC_000012.12:53299751:C:T
Gene:: PFDN5 (Varview), MYG1 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53299752C>T, NC_000012.11:g.53693536C>T, NG_056588.2:g.1186C>T, NG_056588.1:g.348C>T, NG_029695.1:g.9302C>T, NW_025791795.1:g.23511C>T, NM_021640.4:c.15C>T, NM_021640.3:c.15C>T

Select item 14888771697.

rs1488877169 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 12:53305714 (GRCh38)
12:53699498 (GRCh37)
Canonical SPDI:: NC_000012.12:53305713:TT:T
Gene:: MYG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.53305715del, NC_000012.11:g.53699499del, NG_016775.1:g.20915del, NW_025791795.1:g.29465del

Select item 14887296988.

rs1488729698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53301242 (GRCh38)
12:53695026 (GRCh37)
Canonical SPDI:: NC_000012.12:53301241:C:T
Gene:: MYG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53301242C>T, NC_000012.11:g.53695026C>T, NG_029695.1:g.10792C>T, NW_025791795.1:g.25001C>T

Select item 14883193179.

rs1488319317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:53300989 (GRCh38)
12:53694773 (GRCh37)
Canonical SPDI:: NC_000012.12:53300988:G:T
Gene:: MYG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53300989G>T, NC_000012.11:g.53694773G>T, NG_029695.1:g.10539G>T, NW_025791795.1:g.24748G>T

Select item 148809444910.

rs1488094449 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:53298200 (GRCh38)
12:53691984 (GRCh37)
Canonical SPDI:: NC_000012.12:53298199:A:C,NC_000012.12:53298199:A:G
Gene:: PFDN5 (Varview), MYG1 (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)
G=0.000008/2 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.53298200A>C, NC_000012.12:g.53298200A>G, NC_000012.11:g.53691984A>C, NC_000012.11:g.53691984A>G, NG_029695.1:g.7750A>C, NG_029695.1:g.7750A>G, NW_025791795.1:g.21960A>C, NW_025791795.1:g.21960A>G

Select item 148799040111.

rs1487990401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:53300496 (GRCh38)
12:53694280 (GRCh37)
Canonical SPDI:: NC_000012.12:53300495:C:A,NC_000012.12:53300495:C:T
Gene:: MYG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53300496C>A, NC_000012.12:g.53300496C>T, NC_000012.11:g.53694280C>A, NC_000012.11:g.53694280C>T, NG_029695.1:g.10046C>A, NG_029695.1:g.10046C>T, NW_025791795.1:g.24255C>A, NW_025791795.1:g.24255C>T

Select item 148782454112.

rs1487824541 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:53304622 (GRCh38)
12:53698406 (GRCh37)
Canonical SPDI:: NC_000012.12:53304617:GAGAGA:GAGA
Gene:: MYG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGA=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.53304618GA[2], NC_000012.11:g.53698402GA[2], NW_025791795.1:g.28377GA[2]

Select item 148758403813.

rs1487584038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:53307215 (GRCh38)
12:53700999 (GRCh37)
Canonical SPDI:: NC_000012.12:53307214:G:C
Gene:: AAAS (Varview), MYG1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.53307215G>C, NC_000012.11:g.53700999G>C, NG_016775.1:g.19414C>G, NW_025791795.1:g.30965G>C

Select item 148757550414.

rs1487575504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53299544 (GRCh38)
12:53693328 (GRCh37)
Canonical SPDI:: NC_000012.12:53299543:G:A
Gene:: PFDN5 (Varview), MYG1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53299544G>A, NC_000012.11:g.53693328G>A, NG_056588.2:g.978G>A, NG_056588.1:g.140G>A, NW_025791795.1:g.23303G>A, NG_029695.1:g.9094G>A

Select item 148683995115.

rs1486839951 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53299698 (GRCh38)
12:53693482 (GRCh37)
Canonical SPDI:: NC_000012.12:53299697:T:C
Gene:: PFDN5 (Varview), MYG1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53299698T>C, NC_000012.11:g.53693482T>C, NG_056588.2:g.1132T>C, NG_056588.1:g.294T>C, NG_029695.1:g.9248T>C, NW_025791795.1:g.23457T>C, NM_021640.4:c.-40T>C, NM_021640.3:c.-40T>C

Select item 148596606416.

rs1485966064 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGACAGACTGGTAACTGAGTGGAAAA>- [Show Flanks]
Chromosome:: 12:53307440 (GRCh38)
12:53701224 (GRCh37)
Canonical SPDI:: NC_000012.12:53307437:AAAAGACAGACTGGTAACTGAGTGGAAAA:AA
Gene:: AAAS (Varview), MYG1 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.53307440_53307466del, NC_000012.11:g.53701224_53701250del, NG_016775.1:g.19165_19191del, NW_025791795.1:g.31190_31216del

Select item 148590309117.

rs1485903091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:53306842 (GRCh38)
12:53700626 (GRCh37)
Canonical SPDI:: NC_000012.12:53306841:C:A,NC_000012.12:53306841:C:T
Gene:: MYG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.53306842C>A, NC_000012.12:g.53306842C>T, NC_000012.11:g.53700626C>A, NC_000012.11:g.53700626C>T, NG_016775.1:g.19787G>T, NG_016775.1:g.19787G>A, NW_025791795.1:g.30592C>A, NW_025791795.1:g.30592C>T, NM_021640.4:c.928C>A, NM_021640.4:c.928C>T, NM_021640.3:c.928C>A, NM_021640.3:c.928C>T, NP_067653.4:p.Pro310Thr, NP_067653.4:p.Pro310Ser

Select item 148586208718.

rs1485862087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53303893 (GRCh38)
12:53697677 (GRCh37)
Canonical SPDI:: NC_000012.12:53303892:G:A
Gene:: MYG1 (Varview)
Functional Consequence:: 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_000012.12:g.53303893G>A, NC_000012.11:g.53697677G>A, NW_025791795.1:g.27652G>A

Select item 148533280019.

rs1485332800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53306416 (GRCh38)
12:53700200 (GRCh37)
Canonical SPDI:: NC_000012.12:53306415:G:A
Gene:: MYG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.53306416G>A, NC_000012.11:g.53700200G>A, NG_016775.1:g.20213C>T, NW_025791795.1:g.30166G>A

Select item 148507704220.

rs1485077042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53306891 (GRCh38)
12:53700675 (GRCh37)
Canonical SPDI:: NC_000012.12:53306890:C:T
Gene:: MYG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53306891C>T, NC_000012.11:g.53700675C>T, NG_016775.1:g.19738G>A, NW_025791795.1:g.30641C>T

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