SNP Links for Gene (Select 89) - SNP

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Select item 14910545591.

rs1491054559 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:66554473 (GRCh38)
11:66321944 (GRCh37)
Canonical SPDI:: NC_000011.10:66554471:AGA:A
Gene:: ACTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.66554473_66554474del, NC_000011.9:g.66321944_66321945del, NG_013304.2:g.12554_12555del

Select item 14907320442.

rs1490732044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66555886 (GRCh38)
11:66323357 (GRCh37)
Canonical SPDI:: NC_000011.10:66555885:C:T
Gene:: ACTN3 (Varview)
Functional Consequence:: intron_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_000011.10:g.66555886C>T, NC_000011.9:g.66323357C>T, NG_013304.2:g.13967C>T

Select item 14905928133.

rs1490592813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:66559139 (GRCh38)
11:66326610 (GRCh37)
Canonical SPDI:: NC_000011.10:66559138:G:T
Gene:: ACTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66559139G>T, NC_000011.9:g.66326610G>T, NG_013304.2:g.17220G>T

Select item 14904055654.

rs1490405565 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:66557043 (GRCh38)
11:66324514 (GRCh37)
Canonical SPDI:: NC_000011.10:66557042:G:A,NC_000011.10:66557042:G:T
Gene:: ACTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.66557043G>A, NC_000011.10:g.66557043G>T, NC_000011.9:g.66324514G>A, NC_000011.9:g.66324514G>T, NG_013304.2:g.15124G>A, NG_013304.2:g.15124G>T

Select item 14903491015.

rs1490349101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66562885 (GRCh38)
11:66330356 (GRCh37)
Canonical SPDI:: NC_000011.10:66562884:C:T
Gene:: ACTN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.66562885C>T, NC_000011.9:g.66330356C>T, NG_013304.2:g.20966C>T, NM_001104.4:c.2478C>T, NM_001104.3:c.2478C>T, NM_001104.2:c.2478C>T, NM_001258371.3:c.2607C>T, NM_001258371.2:c.2607C>T, NM_001258371.1:c.2607C>T, NR_047663.2:n.2575C>T, NR_047663.1:n.2575C>T, NG_032973.1:g.10692G>A

Select item 14901046286.

rs1490104628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:66562127 (GRCh38)
11:66329598 (GRCh37)
Canonical SPDI:: NC_000011.10:66562126:C:A
Gene:: ACTN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66562127C>A, NC_000011.9:g.66329598C>A, NG_013304.2:g.20208C>A, NM_001104.4:c.2281C>A, NM_001104.3:c.2281C>A, NM_001104.2:c.2281C>A, NM_001258371.3:c.2410C>A, NM_001258371.2:c.2410C>A, NM_001258371.1:c.2410C>A, NR_047663.2:n.2378C>A, NR_047663.1:n.2378C>A, NG_032973.1:g.11450G>T, NP_001095.2:p.Gln761Lys, NP_001245300.2:p.Gln804Lys

Select item 14900459217.

rs1490045921 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 11:66549468 (GRCh38)
11:66316939 (GRCh37)
Canonical SPDI:: NC_000011.10:66549467:A:
Gene:: ACTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66549468del, NC_000011.9:g.66316939del, NG_013304.2:g.7549del, NG_079331.1:g.351del

Select item 14900044308.

rs1490004430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66547052 (GRCh38)
11:66314523 (GRCh37)
Canonical SPDI:: NC_000011.10:66547051:C:T
Gene:: ACTN3 (Varview), ZDHHC24 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.66547052C>T, NC_000011.9:g.66314523C>T, NG_013304.2:g.5133C>T, NM_001104.4:c.115C>T, NM_001104.3:c.115C>T, NM_001104.2:c.115C>T, NR_047663.2:n.212C>T, NR_047663.1:n.212C>T

Select item 14899886999.

rs1489988699 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66545894 (GRCh38)
11:66313365 (GRCh37)
Canonical SPDI:: NC_000011.10:66545893:A:G
Gene:: ACTN3 (Varview), ZDHHC24 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66545894A>G, NC_000011.9:g.66313365A>G, NG_013304.2:g.3975A>G, XM_005273874.5:c.110T>C, XM_005273874.4:c.110T>C, XM_005273874.3:c.110T>C, XM_005273874.2:c.110T>C, XM_005273874.1:c.110T>C, XM_011544893.4:c.110T>C, XM_011544893.3:c.110T>C, XM_011544893.2:c.110T>C, XM_011544893.1:c.110T>C, XR_949860.4:n.155T>C, XR_949860.3:n.291T>C, XR_949860.2:n.166T>C, XR_949860.1:n.166T>C, NM_207340.3:c.110T>C, NM_207340.2:c.110T>C, NM_207340.1:c.110T>C, XM_011544894.3:c.110T>C, XM_011544894.2:c.110T>C, XM_011544894.1:c.110T>C, NM_001348571.2:c.110T>C, NM_001348571.1:c.110T>C, XM_047426709.1:c.110T>C, XR_007062470.1:n.155T>C, XR_007062471.1:n.155T>C, XM_047426710.1:c.110T>C, XP_005273931.1:p.Leu37Pro, XP_011543195.1:p.Leu37Pro, NP_997223.1:p.Leu37Pro, XP_011543196.1:p.Leu37Pro, NP_001335500.1:p.Leu37Pro, XP_047282665.1:p.Leu37Pro, XP_047282666.1:p.Leu37Pro

Select item 148998035810.

rs1489980358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66555627 (GRCh38)
11:66323098 (GRCh37)
Canonical SPDI:: NC_000011.10:66555626:G:A
Gene:: ACTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66555627G>A, NC_000011.9:g.66323098G>A, NG_013304.2:g.13708G>A

Select item 148985953211.

rs1489859532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66562462 (GRCh38)
11:66329933 (GRCh37)
Canonical SPDI:: NC_000011.10:66562461:G:A
Gene:: ACTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66562462G>A, NC_000011.9:g.66329933G>A, NG_013304.2:g.20543G>A, NG_032973.1:g.11115C>T

Select item 148980186612.

rs1489801866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:66559571 (GRCh38)
11:66327042 (GRCh37)
Canonical SPDI:: NC_000011.10:66559570:G:C
Gene:: ACTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00075/12 (TOMMO)
HGVS:: NC_000011.10:g.66559571G>C, NC_000011.9:g.66327042G>C, NG_013304.2:g.17652G>C

Select item 148952464313.

rs1489524643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:66552353 (GRCh38)
11:66319824 (GRCh37)
Canonical SPDI:: NC_000011.10:66552352:G:C
Gene:: ACTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000015/2 (GnomAD)
HGVS:: NC_000011.10:g.66552353G>C, NC_000011.9:g.66319824G>C, NG_013304.2:g.10434G>C

Select item 148951171614.

rs1489511716 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66561506 (GRCh38)
11:66328977 (GRCh37)
Canonical SPDI:: NC_000011.10:66561505:A:G
Gene:: ACTN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66561506A>G, NC_000011.9:g.66328977A>G, NG_013304.2:g.19587A>G, NM_001104.4:c.2044A>G, NM_001104.3:c.2044A>G, NM_001104.2:c.2044A>G, NM_001258371.3:c.2173A>G, NM_001258371.2:c.2173A>G, NM_001258371.1:c.2173A>G, NR_047663.2:n.2141A>G, NR_047663.1:n.2141A>G, NG_032973.1:g.12071T>C, NP_001095.2:p.Met682Val, NP_001245300.2:p.Met725Val

Select item 148948228015.

rs1489482280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66560285 (GRCh38)
11:66327756 (GRCh37)
Canonical SPDI:: NC_000011.10:66560284:C:T
Gene:: ACTN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.66560285C>T, NC_000011.9:g.66327756C>T, NG_013304.2:g.18366C>T, NM_001104.4:c.1651C>T, NM_001104.3:c.1651C>T, NM_001104.2:c.1651C>T, NM_001258371.3:c.1780C>T, NM_001258371.2:c.1780C>T, NM_001258371.1:c.1780C>T, NR_047663.2:n.1748C>T, NR_047663.1:n.1748C>T

Select item 148947414016.

rs1489474140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 11:66558489 (GRCh38)
11:66325960 (GRCh37)
Canonical SPDI:: NC_000011.10:66558488:A:C,NC_000011.10:66558488:A:G,NC_000011.10:66558488:A:T
Gene:: ACTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66558489A>C, NC_000011.10:g.66558489A>G, NC_000011.10:g.66558489A>T, NC_000011.9:g.66325960A>C, NC_000011.9:g.66325960A>G, NC_000011.9:g.66325960A>T, NG_013304.2:g.16570A>C, NG_013304.2:g.16570A>G, NG_013304.2:g.16570A>T

Select item 148883395517.

rs1488833955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:66562844 (GRCh38)
11:66330315 (GRCh37)
Canonical SPDI:: NC_000011.10:66562843:G:A,NC_000011.10:66562843:G:T
Gene:: ACTN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
A=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.66562844G>A, NC_000011.10:g.66562844G>T, NC_000011.9:g.66330315G>A, NC_000011.9:g.66330315G>T, NG_013304.2:g.20925G>A, NG_013304.2:g.20925G>T, NM_001104.4:c.2437G>A, NM_001104.4:c.2437G>T, NM_001104.3:c.2437G>A, NM_001104.3:c.2437G>T, NM_001104.2:c.2437G>A, NM_001104.2:c.2437G>T, NM_001258371.3:c.2566G>A, NM_001258371.3:c.2566G>T, NM_001258371.2:c.2566G>A, NM_001258371.2:c.2566G>T, NM_001258371.1:c.2566G>A, NM_001258371.1:c.2566G>T, NR_047663.2:n.2534G>A, NR_047663.2:n.2534G>T, NR_047663.1:n.2534G>A, NR_047663.1:n.2534G>T, NG_032973.1:g.10733C>T, NG_032973.1:g.10733C>A, NP_001095.2:p.Ala813Thr, NP_001095.2:p.Ala813Ser, NP_001245300.2:p.Ala856Thr, NP_001245300.2:p.Ala856Ser

Select item 148878791018.

rs1488787910 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCC>- [Show Flanks]
Chromosome:: 11:66545161 (GRCh38)
11:66312632 (GRCh37)
Canonical SPDI:: NC_000011.10:66545158:CCTCCC:CC
Gene:: ACTN3 (Varview), ZDHHC24 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.66545161_66545164del, NC_000011.9:g.66312632_66312635del, NG_013304.2:g.3242_3245del

Select item 148878362019.

rs1488783620 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 11:66557379 (GRCh38)
11:66324851 (GRCh37)
Canonical SPDI:: NC_000011.10:66557379:CCC:CCCCC
Gene:: ACTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
CC=0.000007/1 (GnomAD)
CC=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.66557381_66557382dup, NC_000011.9:g.66324852_66324853dup, NG_013304.2:g.15462_15463dup

Select item 148865902320.

rs1488659023 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:66560343 (GRCh38)
11:66327814 (GRCh37)
Canonical SPDI:: NC_000011.10:66560342:A:T
Gene:: ACTN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66560343A>T, NC_000011.9:g.66327814A>T, NG_013304.2:g.18424A>T