SNP Links for Gene (Select 4634) - SNP

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Select item 14907683311.

rs1490768331 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:46862043 (GRCh38)
3:46903533 (GRCh37)
Canonical SPDI:: NC_000003.12:46862042:T:A
Gene:: MYL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000003.12:g.46862043T>A, NC_000003.11:g.46903533T>A, NG_007555.2:g.25127A>T

Select item 14902784522.

rs1490278452 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46862547 (GRCh38)
3:46904037 (GRCh37)
Canonical SPDI:: NC_000003.12:46862546:G:A
Gene:: MYL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.46862547G>A, NC_000003.11:g.46904037G>A, NG_007555.2:g.24623C>T

Select item 14898026523.

rs1489802652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46864196 (GRCh38)
3:46905686 (GRCh37)
Canonical SPDI:: NC_000003.12:46864195:G:A
Gene:: MYL3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000003.12:g.46864196G>A, NC_000003.11:g.46905686G>A, NG_007555.2:g.22974C>T

Select item 14897789134.

rs1489778913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46863146 (GRCh38)
3:46904636 (GRCh37)
Canonical SPDI:: NC_000003.12:46863145:C:T
Gene:: MYL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.46863146C>T, NC_000003.11:g.46904636C>T, NG_007555.2:g.24024G>A

Select item 14894105425.

rs1489410542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46860973 (GRCh38)
3:46902463 (GRCh37)
Canonical SPDI:: NC_000003.12:46860972:A:G
Gene:: MYL3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46860973A>G, NC_000003.11:g.46902463A>G, NG_007555.2:g.26197T>C, NM_000258.3:c.144T>C, NM_000258.2:c.144T>C, NM_001406938.1:c.144T>C, NM_001406941.1:c.-31T>C, NM_001406939.1:c.144T>C, NM_001406937.1:c.144T>C, NM_001406940.1:c.-31T>C, XM_047448181.1:c.144T>C

Select item 14889564926.

rs1488956492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:46864214 (GRCh38)
3:46905704 (GRCh37)
Canonical SPDI:: NC_000003.12:46864213:T:C
Gene:: MYL3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.46864214T>C, NC_000003.11:g.46905704T>C, NG_007555.2:g.22956A>G

Select item 14886622997.

rs1488662299 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:46859751 (GRCh38)
3:46901241 (GRCh37)
Canonical SPDI:: NC_000003.12:46859750:T:A
Gene:: MYL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.46859751T>A, NC_000003.11:g.46901241T>A, NG_007555.2:g.27419A>T

Select item 14885600428.

rs1488560042 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGACCTTCCCTGGGA>- [Show Flanks]
Chromosome:: 3:46860026 (GRCh38)
3:46901516 (GRCh37)
Canonical SPDI:: NC_000003.12:46860024:AGAGACCTTCCCTGGGA:A
Gene:: MYL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.46860026_46860041del, NC_000003.11:g.46901516_46901531del, NG_007555.2:g.27130_27145del

Select item 14884686979.

rs1488468697 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCC>- [Show Flanks]
Chromosome:: 3:46861064 (GRCh38)
3:46902554 (GRCh37)
Canonical SPDI:: NC_000003.12:46861060:GCCAGCC:GCC
Gene:: MYL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46861064_46861067del, NC_000003.11:g.46902554_46902557del, NG_007555.2:g.26106_26109del

Select item 148777989110.

rs1487779891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46857435 (GRCh38)
3:46898925 (GRCh37)
Canonical SPDI:: NC_000003.12:46857434:G:A
Gene:: MYL3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46857435G>A, NC_000003.11:g.46898925G>A, NG_007555.2:g.29735C>T

Select item 148748346211.

rs1487483462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46861582 (GRCh38)
3:46903072 (GRCh37)
Canonical SPDI:: NC_000003.12:46861581:C:T
Gene:: MYL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.46861582C>T, NC_000003.11:g.46903072C>T, NG_007555.2:g.25588G>A, NM_001406941.1:c.-330G>A

Select item 148732288512.

rs1487322885 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCCCGCTCC>- [Show Flanks]
Chromosome:: 3:46865189 (GRCh38)
3:46906679 (GRCh37)
Canonical SPDI:: NC_000003.12:46865186:CCAGCCCGCTCC:CC
Gene:: MYL3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46865189_46865198del, NC_000003.11:g.46906679_46906688del, NG_007555.2:g.21974_21983del

Select item 148705716413.

rs1487057164 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46861702 (GRCh38)
3:46903192 (GRCh37)
Canonical SPDI:: NC_000003.12:46861701:C:T
Gene:: MYL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.46861702C>T, NC_000003.11:g.46903192C>T, NG_007555.2:g.25468G>A

Select item 148693302714.

rs1486933027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:46864662 (GRCh38)
3:46906152 (GRCh37)
Canonical SPDI:: NC_000003.12:46864661:C:G,NC_000003.12:46864661:C:T
Gene:: MYL3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46864662C>G, NC_000003.12:g.46864662C>T, NC_000003.11:g.46906152C>G, NC_000003.11:g.46906152C>T, NG_007555.2:g.22508G>C, NG_007555.2:g.22508G>A

Select item 148685295015.

rs1486852950 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACC>- [Show Flanks]
Chromosome:: 3:46858551 (GRCh38)
3:46900041 (GRCh37)
Canonical SPDI:: NC_000003.12:46858549:CAACC:C
Gene:: MYL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46858551_46858554del, NC_000003.11:g.46900041_46900044del, NG_007555.2:g.28617_28620del

Select item 148669561016.

rs1486695610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46861840 (GRCh38)
3:46903330 (GRCh37)
Canonical SPDI:: NC_000003.12:46861839:C:T
Gene:: MYL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46861840C>T, NC_000003.11:g.46903330C>T, NG_007555.2:g.25330G>A

Select item 148647405017.

rs1486474050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46862082 (GRCh38)
3:46903572 (GRCh37)
Canonical SPDI:: NC_000003.12:46862081:G:A
Gene:: MYL3 (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_000003.12:g.46862082G>A, NC_000003.11:g.46903572G>A, NG_007555.2:g.25088C>T

Select item 148606700418.

rs1486067004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46858692 (GRCh38)
3:46900182 (GRCh37)
Canonical SPDI:: NC_000003.12:46858691:G:A
Gene:: MYL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.46858692G>A, NC_000003.11:g.46900182G>A, NG_007555.2:g.28478C>T

Select item 148603253219.

rs1486032532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46857639 (GRCh38)
3:46899129 (GRCh37)
Canonical SPDI:: NC_000003.12:46857638:G:A
Gene:: MYL3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.46857639G>A, NC_000003.11:g.46899129G>A, NG_007555.2:g.29531C>T

Select item 148518942420.

rs1485189424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46860117 (GRCh38)
3:46901607 (GRCh37)
Canonical SPDI:: NC_000003.12:46860116:A:G
Gene:: MYL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.46860117A>G, NC_000003.11:g.46901607A>G, NG_007555.2:g.27053T>C

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