SNP Links for Gene (Select 4618) - SNP

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Links from Gene

Items: 1 to 20 of 1087

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Select item 14908941511.

rs1490894151 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:80708321 (GRCh38)
12:81102100 (GRCh37)
Canonical SPDI:: NC_000012.12:80708320:T:A
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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.80708321T>A, NC_000012.11:g.81102100T>A, NG_021392.1:g.5693T>A

Select item 14903927062.

rs1490392706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:80705852 (GRCh38)
12:81099631 (GRCh37)
Canonical SPDI:: NC_000012.12:80705851:T:G
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.80705852T>G, NC_000012.11:g.81099631T>G, NG_021392.1:g.3224T>G

Select item 14902637063.

rs1490263706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:80709361 (GRCh38)
12:81103140 (GRCh37)
Canonical SPDI:: NC_000012.12:80709360:T:C
Gene:: MYF6 (Varview)
Functional Consequence:: 3_prime_UTR_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_000012.12:g.80709361T>C, NC_000012.11:g.81103140T>C, NG_021392.1:g.6733T>C, NM_002469.3:c.*401T>C, NM_002469.2:c.*401T>C

Select item 14902282264.

rs1490228226 [Homo sapiens]

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

Select item 14900743575.

rs1490074357 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:80708616 (GRCh38)
12:81102395 (GRCh37)
Canonical SPDI:: NC_000012.12:80708615:T:C,NC_000012.12:80708615:T:G
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: 2KB_upstream_variant,splice_donor_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.004367/8 (Korea1K)
HGVS:: NC_000012.12:g.80708616T>C, NC_000012.12:g.80708616T>G, NC_000012.11:g.81102395T>C, NC_000012.11:g.81102395T>G, NG_021392.1:g.5988T>C, NG_021392.1:g.5988T>G

Select item 14899120266.

rs1489912026 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:80709150 (GRCh38)
12:81102929 (GRCh37)
Canonical SPDI:: NC_000012.12:80709149:T:C,NC_000012.12:80709149:T:G
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.80709150T>C, NC_000012.12:g.80709150T>G, NC_000012.11:g.81102929T>C, NC_000012.11:g.81102929T>G, NG_021392.1:g.6522T>C, NG_021392.1:g.6522T>G, NM_002469.3:c.*190T>C, NM_002469.3:c.*190T>G, NM_002469.2:c.*190T>C, NM_002469.2:c.*190T>G

Select item 14898638647.

rs1489863864 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:80708304 (GRCh38)
12:81102083 (GRCh37)
Canonical SPDI:: NC_000012.12:80708303:A:G
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.80708304A>G, NC_000012.11:g.81102083A>G, NG_021392.1:g.5676A>G

Select item 14895201208.

rs1489520120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:80706155 (GRCh38)
12:81099934 (GRCh37)
Canonical SPDI:: NC_000012.12:80706154:C:T
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.80706155C>T, NC_000012.11:g.81099934C>T, NG_021392.1:g.3527C>T

Select item 14886365459.

rs1488636545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:80708429 (GRCh38)
12:81102208 (GRCh37)
Canonical SPDI:: NC_000012.12:80708428:G:A,NC_000012.12:80708428:G:C
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.80708429G>A, NC_000012.12:g.80708429G>C, NC_000012.11:g.81102208G>A, NC_000012.11:g.81102208G>C, NG_021392.1:g.5801G>A, NG_021392.1:g.5801G>C

Select item 148782228510.

rs1487822285 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:80706061 (GRCh38)
12:81099840 (GRCh37)
Canonical SPDI:: NC_000012.12:80706060:T:G
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000012.12:g.80706061T>G, NC_000012.11:g.81099840T>G, NG_021392.1:g.3433T>G

Select item 148667079511.

rs1486670795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:80706859 (GRCh38)
12:81100638 (GRCh37)
Canonical SPDI:: NC_000012.12:80706858:C:T
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.80706859C>T, NC_000012.11:g.81100638C>T, NG_021392.1:g.4231C>T

Select item 148622273012.

rs1486222730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:80706787 (GRCh38)
12:81100566 (GRCh37)
Canonical SPDI:: NC_000012.12:80706786:T:C
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.80706787T>C, NC_000012.11:g.81100566T>C, NG_021392.1:g.4159T>C

Select item 148570694413.

rs1485706944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:80707749 (GRCh38)
12:81101528 (GRCh37)
Canonical SPDI:: NC_000012.12:80707748:C:T
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.80707749C>T, NC_000012.11:g.81101528C>T, NG_021392.1:g.5121C>T, NM_002469.3:c.30C>T, NM_002469.2:c.30C>T

Select item 148517402314.

rs1485174023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:80708270 (GRCh38)
12:81102049 (GRCh37)
Canonical SPDI:: NC_000012.12:80708269:G:A
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.80708270G>A, NC_000012.11:g.81102049G>A, NG_021392.1:g.5642G>A

Select item 148147354115.

rs1481473541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:80707364 (GRCh38)
12:81101143 (GRCh37)
Canonical SPDI:: NC_000012.12:80707363:T:A
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.80707364T>A, NC_000012.11:g.81101143T>A, NG_021392.1:g.4736T>A

Select item 148036657116.

rs1480366571 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:80708238 (GRCh38)
12:81102017 (GRCh37)
Canonical SPDI:: NC_000012.12:80708237:T:G
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.80708238T>G, NC_000012.11:g.81102017T>G, NG_021392.1:g.5610T>G, NM_002469.3:c.519T>G, NM_002469.2:c.519T>G, NP_002460.1:p.Asn173Lys

Select item 148014410617.

rs1480144106 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 12:80706050 (GRCh38)
12:81099829 (GRCh37)
Canonical SPDI:: NC_000012.12:80706049:A:C,NC_000012.12:80706049:A:T
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.80706050A>C, NC_000012.12:g.80706050A>T, NC_000012.11:g.81099829A>C, NC_000012.11:g.81099829A>T, NG_021392.1:g.3422A>C, NG_021392.1:g.3422A>T

Select item 147983727018.

rs1479837270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:80707946 (GRCh38)
12:81101725 (GRCh37)
Canonical SPDI:: NC_000012.12:80707945:A:G
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_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_000012.12:g.80707946A>G, NC_000012.11:g.81101725A>G, NG_021392.1:g.5318A>G, NM_002469.3:c.227A>G, NM_002469.2:c.227A>G, NP_002460.1:p.Gln76Arg

Select item 147939188919.

rs1479391889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:80708260 (GRCh38)
12:81102039 (GRCh37)
Canonical SPDI:: NC_000012.12:80708259:G:A,NC_000012.12:80708259:G:T
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.80708260G>A, NC_000012.12:g.80708260G>T, NC_000012.11:g.81102039G>A, NC_000012.11:g.81102039G>T, NG_021392.1:g.5632G>A, NG_021392.1:g.5632G>T

Select item 147819521120.

rs1478195211 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:80706367 (GRCh38)
12:81100146 (GRCh37)
Canonical SPDI:: NC_000012.12:80706366:T:A,NC_000012.12:80706366:T:C
Gene:: MYF6 (Varview), LOC105369867 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.80706367T>A, NC_000012.12:g.80706367T>C, NC_000012.11:g.81100146T>A, NC_000012.11:g.81100146T>C, NG_021392.1:g.3739T>A, NG_021392.1:g.3739T>C

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