SNP Links for Gene (Select 284382) - SNP

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Select item 14899879801.

rs1489987980 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:8699811 (GRCh38)
19:8810161 (GRCh37)
Canonical SPDI:: NC_000019.10:8699810:A:C
Gene:: ACTL9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.8699811A>C, NW_003871094.1:g.129781A>C, NC_000019.9:g.8810161A>C

Select item 14895052672.

rs1489505267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:8699706 (GRCh38)
19:8810056 (GRCh37)
Canonical SPDI:: NC_000019.10:8699705:C:A,NC_000019.10:8699705:C:G
Gene:: ACTL9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.8699706C>A, NC_000019.10:g.8699706C>G, NW_003871094.1:g.129676C>A, NW_003871094.1:g.129676C>G, NC_000019.9:g.8810056C>A, NC_000019.9:g.8810056C>G

Select item 14888052413.

rs1488805241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:8697186 (GRCh38)
19:8807536 (GRCh37)
Canonical SPDI:: NC_000019.10:8697185:G:A,NC_000019.10:8697185:G:T
Gene:: ACTL9 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.8697186G>A, NC_000019.10:g.8697186G>T, NW_003871094.1:g.127156G>A, NW_003871094.1:g.127156G>T, NC_000019.9:g.8807536G>A, NC_000019.9:g.8807536G>T

Select item 14879621704.

rs1487962170 has merged into rs1206050568 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA [Show Flanks]
Chromosome:: 19:8699440 (GRCh38)
19:8809790 (GRCh37)
Canonical SPDI:: NC_000019.10:8699439:AAAAAAAA:AAAAAAA,NC_000019.10:8699439:AAAAAAAA:AAAAAAAAA,NC_000019.10:8699439:AAAAAAAA:AAAAAAAAAA
Gene:: ACTL9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000024/3 (GnomAD)
HGVS:: NC_000019.10:g.8699447del, NC_000019.10:g.8699447dup, NC_000019.10:g.8699446_8699447dup, NW_003871094.1:g.129417del, NW_003871094.1:g.129417dup, NW_003871094.1:g.129416_129417dup, NC_000019.9:g.8809797del, NC_000019.9:g.8809797dup, NC_000019.9:g.8809796_8809797dup

Select item 14862647795.

rs1486264779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8698341 (GRCh38)
19:8808691 (GRCh37)
Canonical SPDI:: NC_000019.10:8698340:C:T
Gene:: ACTL9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.8698341C>T, NW_003871094.1:g.128311C>T, NC_000019.9:g.8808691C>T, NM_178525.5:c.361G>A, NM_178525.4:c.361G>A, NM_178525.3:c.361G>A, NP_848620.3:p.Asp121Asn

Select item 14855387986.

rs1485538798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:8697990 (GRCh38)
19:8808340 (GRCh37)
Canonical SPDI:: NC_000019.10:8697989:G:C
Gene:: ACTL9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.8697990G>C, NW_003871094.1:g.127960G>C, NC_000019.9:g.8808340G>C, NM_178525.5:c.712C>G, NM_178525.4:c.712C>G, NM_178525.3:c.712C>G, NP_848620.3:p.Gln238Glu

Select item 14854039887.

rs1485403988 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:8698829 (GRCh38)
19:8809179 (GRCh37)
Canonical SPDI:: NC_000019.10:8698828:A:G
Gene:: ACTL9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.8698829A>G, NW_003871094.1:g.128799A>G, NC_000019.9:g.8809179A>G, NM_178525.4:c.-128T>C

Select item 14841122568.

rs1484112256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8700576 (GRCh38)
19:8810926 (GRCh37)
Canonical SPDI:: NC_000019.10:8700575:G:A
Gene:: ACTL9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.8700576G>A, NW_003871094.1:g.130546G>A, NC_000019.9:g.8810926G>A

Select item 14833432669.

rs1483343266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:8700410 (GRCh38)
19:8810760 (GRCh37)
Canonical SPDI:: NC_000019.10:8700409:G:T
Gene:: ACTL9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8700410G>T, NW_003871094.1:g.130380G>T, NC_000019.9:g.8810760G>T

Select item 148331567210.

rs1483315672 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:8699445 (GRCh38)
19:8809795 (GRCh37)
Canonical SPDI:: NC_000019.10:8699444:A:C,NC_000019.10:8699444:A:G
Gene:: ACTL9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.8699445A>C, NC_000019.10:g.8699445A>G, NW_003871094.1:g.129415A>C, NW_003871094.1:g.129415A>G, NC_000019.9:g.8809795A>C, NC_000019.9:g.8809795A>G

Select item 148302279311.

rs1483022793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8699916 (GRCh38)
19:8810266 (GRCh37)
Canonical SPDI:: NC_000019.10:8699915:C:T
Gene:: ACTL9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.8699916C>T, NW_003871094.1:g.129886C>T, NC_000019.9:g.8810266C>T

Select item 148299147812.

rs1482991478 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:8699029 (GRCh38)
19:8809379 (GRCh37)
Canonical SPDI:: NC_000019.10:8699028:A:G
Gene:: ACTL9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.8699029A>G, NW_003871094.1:g.128999A>G, NC_000019.9:g.8809379A>G

Select item 148226830513.

rs1482268305 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:8698759 (GRCh38)
19:8809109 (GRCh37)
Canonical SPDI:: NC_000019.10:8698758:G:
Gene:: ACTL9 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8698759del, NW_003871094.1:g.128729del, NC_000019.9:g.8809109del, NM_178525.5:c.-58del, NM_178525.4:c.-58del, NM_178525.3:c.-58del

Select item 147894801014.

rs1478948010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8697668 (GRCh38)
19:8808018 (GRCh37)
Canonical SPDI:: NC_000019.10:8697667:G:A
Gene:: ACTL9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.8697668G>A, NW_003871094.1:g.127638G>A, NC_000019.9:g.8808018G>A, NM_178525.5:c.1034C>T, NM_178525.4:c.1034C>T, NM_178525.3:c.1034C>T, NP_848620.3:p.Ser345Leu

Select item 147808669315.

rs1478086693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:8697391 (GRCh38)
19:8807741 (GRCh37)
Canonical SPDI:: NC_000019.10:8697390:G:C
Gene:: ACTL9 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000057/8 (GnomAD)
C=0.000091/24 (TOPMED)
HGVS:: NC_000019.10:g.8697391G>C, NW_003871094.1:g.127361G>C, NC_000019.9:g.8807741G>C

Select item 147740563516.

rs1477405635 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:8700402 (GRCh38)
19:8810752 (GRCh37)
Canonical SPDI:: NC_000019.10:8700401:T:C
Gene:: ACTL9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.8700402T>C, NW_003871094.1:g.130372T>C, NC_000019.9:g.8810752T>C

Select item 147712406317.

rs1477124063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:8699091 (GRCh38)
19:8809441 (GRCh37)
Canonical SPDI:: NC_000019.10:8699090:G:A,NC_000019.10:8699090:G:C
Gene:: ACTL9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.8699091G>A, NC_000019.10:g.8699091G>C, NW_003871094.1:g.129061G>A, NW_003871094.1:g.129061G>C, NC_000019.9:g.8809441G>A, NC_000019.9:g.8809441G>C

Select item 147670592218.

rs1476705922 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:8699340 (GRCh38)
19:8809690 (GRCh37)
Canonical SPDI:: NC_000019.10:8699339:A:G
Gene:: ACTL9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.8699340A>G, NW_003871094.1:g.129310A>G, NC_000019.9:g.8809690A>G

Select item 147663464519.

rs1476634645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:8698468 (GRCh38)
19:8808818 (GRCh37)
Canonical SPDI:: NC_000019.10:8698467:G:C
Gene:: ACTL9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.8698468G>C, NW_003871094.1:g.128438G>C, NC_000019.9:g.8808818G>C, NM_178525.5:c.234C>G, NM_178525.4:c.234C>G, NM_178525.3:c.234C>G, NP_848620.3:p.Ile78Met

Select item 147490104120.

rs1474901041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8697272 (GRCh38)
19:8807622 (GRCh37)
Canonical SPDI:: NC_000019.10:8697271:G:A
Gene:: ACTL9 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8697272G>A, NW_003871094.1:g.127242G>A, NC_000019.9:g.8807622G>A

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