SNP Links for Gene (Select 100302202) - SNP

Links from Gene

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Select item 14866696421.

rs1486669642 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:52278726 (GRCh38)
15:52570923 (GRCh37)
Canonical SPDI:: NC_000015.10:52278725:T:C
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.52278726T>C, NC_000015.9:g.52570923T>C

Select item 14859148942.

rs1485914894 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:52278251 (GRCh38)
15:52570448 (GRCh37)
Canonical SPDI:: NC_000015.10:52278250:T:C
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_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_000015.10:g.52278251T>C, NC_000015.9:g.52570448T>C

Select item 14854308293.

rs1485430829 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:52278131 (GRCh38)
15:52570328 (GRCh37)
Canonical SPDI:: NC_000015.10:52278130:T:C
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.52278131T>C, NC_000015.9:g.52570328T>C

Select item 14844318584.

rs1484431858 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:52276700 (GRCh38)
15:52568897 (GRCh37)
Canonical SPDI:: NC_000015.10:52276699:A:G
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_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_000015.10:g.52276700A>G, NC_000015.9:g.52568897A>G

Select item 14840882325.

rs1484088232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:52278399 (GRCh38)
15:52570596 (GRCh37)
Canonical SPDI:: NC_000015.10:52278398:A:C,NC_000015.10:52278398:A:G
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.52278399A>C, NC_000015.10:g.52278399A>G, NC_000015.9:g.52570596A>C, NC_000015.9:g.52570596A>G

Select item 14839750806.

rs1483975080 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:52278615 (GRCh38)
15:52570812 (GRCh37)
Canonical SPDI:: NC_000015.10:52278614:G:A
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000034/9 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000015.10:g.52278615G>A, NC_000015.9:g.52570812G>A

Select item 14837399497.

rs1483739949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:52278680 (GRCh38)
15:52570877 (GRCh37)
Canonical SPDI:: NC_000015.10:52278679:T:G
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_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_000015.10:g.52278680T>G, NC_000015.9:g.52570877T>G

Select item 14837004448.

rs1483700444 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:52277306 (GRCh38)
15:52569503 (GRCh37)
Canonical SPDI:: NC_000015.10:52277305:A:G
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_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_000015.10:g.52277306A>G, NC_000015.9:g.52569503A>G

Select item 14811938849.

rs1481193884 [Homo sapiens]

Variant type:: DEL
Alleles:: GGAGTGCTGT>- [Show Flanks]
Chromosome:: 15:52278065 (GRCh38)
15:52570262 (GRCh37)
Canonical SPDI:: NC_000015.10:52278064:GGAGTGCTGT:
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000015.10:g.52278065_52278074del, NC_000015.9:g.52570262_52570271del

Select item 147940041210.

rs1479400412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:52278185 (GRCh38)
15:52570382 (GRCh37)
Canonical SPDI:: NC_000015.10:52278184:A:G
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
HGVS:: NC_000015.10:g.52278185A>G, NC_000015.9:g.52570382A>G

Select item 147647980511.

rs1476479805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:52278836 (GRCh38)
15:52571033 (GRCh37)
Canonical SPDI:: NC_000015.10:52278835:G:A
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_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_000015.10:g.52278836G>A, NC_000015.9:g.52571033G>A

Select item 147638090612.

rs1476380906 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:52277872 (GRCh38)
15:52570069 (GRCh37)
Canonical SPDI:: NC_000015.10:52277871:T:G
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0./0 (KOREAN)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.52277872T>G, NC_000015.9:g.52570069T>G

Select item 147540133813.

rs1475401338 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:52278346 (GRCh38)
15:52570544 (GRCh37)
Canonical SPDI:: NC_000015.10:52278346:T:TT
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.52278347dup, NC_000015.9:g.52570544dup

Select item 147474439914.

rs1474744399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:52277452 (GRCh38)
15:52569649 (GRCh37)
Canonical SPDI:: NC_000015.10:52277451:C:A
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.52277452C>A, NC_000015.9:g.52569649C>A

Select item 147373499415.

rs1473734994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:52278206 (GRCh38)
15:52570403 (GRCh37)
Canonical SPDI:: NC_000015.10:52278205:G:A
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.52278206G>A, NC_000015.9:g.52570403G>A

Select item 147318656016.

rs1473186560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:52277051 (GRCh38)
15:52569248 (GRCh37)
Canonical SPDI:: NC_000015.10:52277050:G:A,NC_000015.10:52277050:G:C
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.52277051G>A, NC_000015.10:g.52277051G>C, NC_000015.9:g.52569248G>A, NC_000015.9:g.52569248G>C

Select item 147178466517.

rs1471784665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:52278818 (GRCh38)
15:52571015 (GRCh37)
Canonical SPDI:: NC_000015.10:52278817:C:T
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.52278818C>T, NC_000015.9:g.52571015C>T

Select item 147151802818.

rs1471518028 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 15:52277808 (GRCh38)
15:52570005 (GRCh37)
Canonical SPDI:: NC_000015.10:52277807:T:C,NC_000015.10:52277807:T:G
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000015.10:g.52277808T>C, NC_000015.10:g.52277808T>G, NC_000015.9:g.52570005T>C, NC_000015.9:g.52570005T>G

Select item 147133208619.

rs1471332086 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:52277321 (GRCh38)
15:52569518 (GRCh37)
Canonical SPDI:: NC_000015.10:52277320:T:C
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.52277321T>C, NC_000015.9:g.52569518T>C

Select item 147101207220.

rs1471012072 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:52279200 (GRCh38)
15:52571397 (GRCh37)
Canonical SPDI:: NC_000015.10:52279199:T:C
Gene:: MYO5C (Varview), MIR1266 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.52279200T>C, NC_000015.9:g.52571397T>C

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