SNP Links for Gene (Select 57591) - SNP

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Select item 14915764911.

rs1491576491 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 22:40470282 (GRCh38)
22:40866286 (GRCh37)
Canonical SPDI:: NC_000022.11:40470280:AAA:A,NC_000022.11:40470280:AAA:AAAAA
Gene:: MRTFA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
-=0.00008/8 (GnomAD)
HGVS:: NC_000022.11:g.40470282_40470283del, NC_000022.11:g.40470282_40470283dup, NC_000022.10:g.40866286_40866287del, NC_000022.10:g.40866286_40866287dup, NG_065810.1:g.171438_171439del, NG_065810.1:g.171438_171439dup

Select item 14915707012.

rs1491570701 [Homo sapiens]

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

Select item 14915468173.

rs1491546817 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTTT [Show Flanks]
Chromosome:: 22:40470231 (GRCh38)
22:40866235 (GRCh37)
Canonical SPDI:: NC_000022.11:40470228:TTTT:TT,NC_000022.11:40470228:TTTT:TTT,NC_000022.11:40470228:TTTT:TTTTTT
Gene:: MRTFA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000106/3 (TOMMO)
-=0.000559/28 (GnomAD)
-=0.000781/5 (1000Genomes)
HGVS:: NC_000022.11:g.40470231_40470232del, NC_000022.11:g.40470232del, NC_000022.11:g.40470231_40470232dup, NC_000022.10:g.40866235_40866236del, NC_000022.10:g.40866236del, NC_000022.10:g.40866235_40866236dup, NG_065810.1:g.171490_171491del, NG_065810.1:g.171491del, NG_065810.1:g.171490_171491dup

Select item 14915171654.

rs1491517165 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:40592491 (GRCh38)
22:40988496 (GRCh37)
Canonical SPDI:: NC_000022.11:40592491:C:CC
Gene:: MRTFA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.40592492dup, NC_000022.10:g.40988496dup, NG_065810.1:g.49228dup

Select item 14915151445.

rs1491515144 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 22:40498274 (GRCh38)
22:40894279 (GRCh37)
Canonical SPDI:: NC_000022.11:40498274::A,NC_000022.11:40498274::ATA,NC_000022.11:40498274::ATATA,NC_000022.11:40498274::ATATATA,NC_000022.11:40498274::ATATATATA,NC_000022.11:40498274::ATATATATATA,NC_000022.11:40498274::ATATATATATATA,NC_000022.11:40498274::ATATATATATATATA,NC_000022.11:40498274::ATATATATATATATATA,NC_000022.11:40498274::ATATATATATATATATATA,NC_000022.11:40498274::ATATATATATATATATATATA,NC_000022.11:40498274::ATATATATATATATATATATATA,NC_000022.11:40498274::ATATATATATATATATATATATATA
Gene:: MRTFA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
ATA=0.00482/7 (Korea1K)
HGVS:: NC_000022.11:g.40498274_40498275insA, NC_000022.11:g.40498274_40498275insATA, NC_000022.11:g.40498274_40498275insATATA, NC_000022.11:g.40498274_40498275insATATATA, NC_000022.11:g.40498274_40498275insATATATATA, NC_000022.11:g.40498274_40498275insATATATATATA, NC_000022.11:g.40498274_40498275insATATATATATATA, NC_000022.11:g.40498274_40498275insATATATATATATATA, NC_000022.11:g.40498274_40498275insATATATATATATATATA, NC_000022.11:g.40498274_40498275insATATATATATATATATATA, NC_000022.11:g.40498274_40498275insATATATATATATATATATATA, NC_000022.11:g.40498274_40498275insATATATATATATATATATATATA, NC_000022.11:g.40498274_40498275insATATATATATATATATATATATATA, NC_000022.10:g.40894278_40894279insA, NC_000022.10:g.40894278_40894279insATA, NC_000022.10:g.40894278_40894279insATATA, NC_000022.10:g.40894278_40894279insATATATA, NC_000022.10:g.40894278_40894279insATATATATA, NC_000022.10:g.40894278_40894279insATATATATATA, NC_000022.10:g.40894278_40894279insATATATATATATA, NC_000022.10:g.40894278_40894279insATATATATATATATA, NC_000022.10:g.40894278_40894279insATATATATATATATATA, NC_000022.10:g.40894278_40894279insATATATATATATATATATA, NC_000022.10:g.40894278_40894279insATATATATATATATATATATA, NC_000022.10:g.40894278_40894279insATATATATATATATATATATATA, NC_000022.10:g.40894278_40894279insATATATATATATATATATATATATA, NG_065810.1:g.143445_143446insT, NG_065810.1:g.143445_143446insTAT, NG_065810.1:g.143445_143446insTATAT, NG_065810.1:g.143445_143446insTATATAT, NG_065810.1:g.143445_143446insTATATATAT, NG_065810.1:g.143445_143446insTATATATATAT, NG_065810.1:g.143445_143446insTATATATATATAT, NG_065810.1:g.143445_143446insTATATATATATATAT, NG_065810.1:g.143445_143446insTATATATATATATATAT, NG_065810.1:g.143445_143446insTATATATATATATATATAT, NG_065810.1:g.143445_143446insTATATATATATATATATATAT, NG_065810.1:g.143445_143446insTATATATATATATATATATATAT, NG_065810.1:g.143445_143446insTATATATATATATATATATATATAT

Select item 14915016316.

rs1491501631 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:40413137 (GRCh38)
22:40809141 (GRCh37)
Canonical SPDI:: NC_000022.11:40413136:CA:
Gene:: MRTFA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00087/24 (TOMMO)
HGVS:: NC_000022.11:g.40413137_40413138del, NC_000022.10:g.40809141_40809142del, NG_065810.1:g.228582_228583del

Select item 14914981807.

rs1491498180 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:40518795 (GRCh38)
22:40914799 (GRCh37)
Canonical SPDI:: NC_000022.11:40518794:CA:
Gene:: MRTFA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.40518795_40518796del, NC_000022.10:g.40914799_40914800del, NG_065810.1:g.122924_122925del

Select item 14914661808.

rs1491466180 has merged into rs879756880 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 22:40521866 (GRCh38)
22:40917870 (GRCh37)
Canonical SPDI:: NC_000022.11:40521855:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:40521855:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:40521855:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:40521855:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:40521855:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: MRTFA (Varview), MRTFA-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.40521866_40521868del, NC_000022.11:g.40521867_40521868del, NC_000022.11:g.40521868del, NC_000022.11:g.40521868dup, NC_000022.11:g.40521867_40521868dup, NC_000022.10:g.40917870_40917872del, NC_000022.10:g.40917871_40917872del, NC_000022.10:g.40917872del, NC_000022.10:g.40917872dup, NC_000022.10:g.40917871_40917872dup, NG_065810.1:g.119862_119864del, NG_065810.1:g.119863_119864del, NG_065810.1:g.119864del, NG_065810.1:g.119864dup, NG_065810.1:g.119863_119864dup, NR_109965.1:n.67_69del, NR_109965.1:n.68_69del, NR_109965.1:n.69del, NR_109965.1:n.69dup, NR_109965.1:n.68_69dup

Select item 14914632329.

rs1491463232 [Homo sapiens]

Variant type:: INS
Alleles:: ->GT [Show Flanks]
Chromosome:: 22:40545722 (GRCh38)
22:40941727 (GRCh37)
Canonical SPDI:: NC_000022.11:40545722::GT
Gene:: MRTFA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: GT=0.00011/2 (TOMMO)
HGVS:: NC_000022.11:g.40545722_40545723insGT, NC_000022.10:g.40941726_40941727insGT, NG_065810.1:g.95997_95998insAC

Select item 149143683710.

rs1491436837 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:40521855 (GRCh38)
22:40917859 (GRCh37)
Canonical SPDI:: NC_000022.11:40521854:CT:
Gene:: MRTFA (Varview), MRTFA-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00005/7 (GnomAD)
HGVS:: NC_000022.11:g.40521855_40521856del, NC_000022.10:g.40917859_40917860del, NG_065810.1:g.119864_119865del, NR_109965.1:n.56_57del

Select item 149143208211.

rs1491432082 has merged into rs55733153 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:40461218 (GRCh38)
22:40857222 (GRCh37)
Canonical SPDI:: NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40461204:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MRTFA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAAAA=0.000004/1 (TOPMED)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000022.11:g.40461218_40461231del, NC_000022.11:g.40461219_40461231del, NC_000022.11:g.40461220_40461231del, NC_000022.11:g.40461221_40461231del, NC_000022.11:g.40461222_40461231del, NC_000022.11:g.40461223_40461231del, NC_000022.11:g.40461224_40461231del, NC_000022.11:g.40461225_40461231del, NC_000022.11:g.40461226_40461231del, NC_000022.11:g.40461227_40461231del, NC_000022.11:g.40461228_40461231del, NC_000022.11:g.40461229_40461231del, NC_000022.11:g.40461230_40461231del, NC_000022.11:g.40461231del, NC_000022.11:g.40461231dup, NC_000022.11:g.40461230_40461231dup, NC_000022.11:g.40461229_40461231dup, NC_000022.11:g.40461228_40461231dup, NC_000022.11:g.40461227_40461231dup, NC_000022.11:g.40461223_40461231dup, NC_000022.10:g.40857222_40857235del, NC_000022.10:g.40857223_40857235del, NC_000022.10:g.40857224_40857235del, NC_000022.10:g.40857225_40857235del, NC_000022.10:g.40857226_40857235del, NC_000022.10:g.40857227_40857235del, NC_000022.10:g.40857228_40857235del, NC_000022.10:g.40857229_40857235del, NC_000022.10:g.40857230_40857235del, NC_000022.10:g.40857231_40857235del, NC_000022.10:g.40857232_40857235del, NC_000022.10:g.40857233_40857235del, NC_000022.10:g.40857234_40857235del, NC_000022.10:g.40857235del, NC_000022.10:g.40857235dup, NC_000022.10:g.40857234_40857235dup, NC_000022.10:g.40857233_40857235dup, NC_000022.10:g.40857232_40857235dup, NC_000022.10:g.40857231_40857235dup, NC_000022.10:g.40857227_40857235dup, NG_065810.1:g.180502_180515del, NG_065810.1:g.180503_180515del, NG_065810.1:g.180504_180515del, NG_065810.1:g.180505_180515del, NG_065810.1:g.180506_180515del, NG_065810.1:g.180507_180515del, NG_065810.1:g.180508_180515del, NG_065810.1:g.180509_180515del, NG_065810.1:g.180510_180515del, NG_065810.1:g.180511_180515del, NG_065810.1:g.180512_180515del, NG_065810.1:g.180513_180515del, NG_065810.1:g.180514_180515del, NG_065810.1:g.180515del, NG_065810.1:g.180515dup, NG_065810.1:g.180514_180515dup, NG_065810.1:g.180513_180515dup, NG_065810.1:g.180512_180515dup, NG_065810.1:g.180511_180515dup, NG_065810.1:g.180507_180515dup

Select item 149142910412.

rs1491429104 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 22:40531286 (GRCh38)
22:40927290 (GRCh37)
Canonical SPDI:: NC_000022.11:40531285:AA:A,NC_000022.11:40531285:AA:AAA
Gene:: MRTFA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0.00054/10 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000022.11:g.40531287del, NC_000022.11:g.40531287dup, NC_000022.10:g.40927291del, NC_000022.10:g.40927291dup, NG_065810.1:g.110434del, NG_065810.1:g.110434dup

Select item 149142127413.

rs1491421274 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:40461204 (GRCh38)
22:40857208 (GRCh37)
Canonical SPDI:: NC_000022.11:40461203:CA:
Gene:: MRTFA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.40461204_40461205del, NC_000022.10:g.40857208_40857209del, NG_065810.1:g.180515_180516del

Select item 149138296014.

rs1491382960 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 22:40610071 (GRCh38)
22:41006075 (GRCh37)
Canonical SPDI:: NC_000022.11:40610068:AGAG:AG
Gene:: MRTFA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000009/1 (GnomAD)
HGVS:: NC_000022.11:g.40610069AG[1], NC_000022.10:g.41006073AG[1], NG_065810.1:g.31648CT[1]

Select item 149135901015.

rs1491359010 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:40592492 (GRCh38)
22:40988496 (GRCh37)
Canonical SPDI:: NC_000022.11:40592490:TCT:T
Gene:: MRTFA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.40592492_40592493del, NC_000022.10:g.40988496_40988497del, NG_065810.1:g.49228_49229del

Select item 149135336516.

rs1491353365 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 22:40453744 (GRCh38)
22:40849748 (GRCh37)
Canonical SPDI:: NC_000022.11:40453743:TA:
Gene:: MRTFA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.40453744_40453745del, NC_000022.10:g.40849748_40849749del, NG_065810.1:g.187975_187976del

Select item 149134773317.

rs1491347733 [Homo sapiens]

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

Select item 149133324118.

rs1491333241 has merged into rs531303160 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:40535358 (GRCh38)
22:40931362 (GRCh37)
Canonical SPDI:: NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:40535348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MRTFA (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.40535358_40535365del, NC_000022.11:g.40535359_40535365del, NC_000022.11:g.40535362_40535365del, NC_000022.11:g.40535364_40535365del, NC_000022.11:g.40535365del, NC_000022.11:g.40535365dup, NC_000022.11:g.40535364_40535365dup, NC_000022.11:g.40535363_40535365dup, NC_000022.11:g.40535362_40535365dup, NC_000022.11:g.40535361_40535365dup, NC_000022.11:g.40535360_40535365dup, NC_000022.11:g.40535359_40535365dup, NC_000022.11:g.40535358_40535365dup, NC_000022.11:g.40535357_40535365dup, NC_000022.11:g.40535356_40535365dup, NC_000022.11:g.40535355_40535365dup, NC_000022.11:g.40535353_40535365dup, NC_000022.11:g.40535350_40535365dup, NC_000022.11:g.40535365_40535366insTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.40535365_40535366insTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.40535365_40535366insTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.40535365_40535366insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.40535365_40535366insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.40535365_40535366insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.40931362_40931369del, NC_000022.10:g.40931363_40931369del, NC_000022.10:g.40931366_40931369del, NC_000022.10:g.40931368_40931369del, NC_000022.10:g.40931369del, NC_000022.10:g.40931369dup, NC_000022.10:g.40931368_40931369dup, NC_000022.10:g.40931367_40931369dup, NC_000022.10:g.40931366_40931369dup, NC_000022.10:g.40931365_40931369dup, NC_000022.10:g.40931364_40931369dup, NC_000022.10:g.40931363_40931369dup, NC_000022.10:g.40931362_40931369dup, NC_000022.10:g.40931361_40931369dup, NC_000022.10:g.40931360_40931369dup, NC_000022.10:g.40931359_40931369dup, NC_000022.10:g.40931357_40931369dup, NC_000022.10:g.40931354_40931369dup, NC_000022.10:g.40931369_40931370insTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.40931369_40931370insTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.40931369_40931370insTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.40931369_40931370insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.40931369_40931370insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.40931369_40931370insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_065810.1:g.106364_106371del, NG_065810.1:g.106365_106371del, NG_065810.1:g.106368_106371del, NG_065810.1:g.106370_106371del, NG_065810.1:g.106371del, NG_065810.1:g.106371dup, NG_065810.1:g.106370_106371dup, NG_065810.1:g.106369_106371dup, NG_065810.1:g.106368_106371dup, NG_065810.1:g.106367_106371dup, NG_065810.1:g.106366_106371dup, NG_065810.1:g.106365_106371dup, NG_065810.1:g.106364_106371dup, NG_065810.1:g.106363_106371dup, NG_065810.1:g.106362_106371dup, NG_065810.1:g.106361_106371dup, NG_065810.1:g.106359_106371dup, NG_065810.1:g.106356_106371dup, NG_065810.1:g.106371_106372insAAAAAAAAAAAAAAAAAAAA, NG_065810.1:g.106371_106372insAAAAAAAAAAAAAAAAAAAAAA, NG_065810.1:g.106371_106372insAAAAAAAAAAAAAAAAAAAAAAA, NG_065810.1:g.106371_106372insAAAAAAAAAAAAAAAAAAAAAAAA, NG_065810.1:g.106371_106372insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_065810.1:g.106371_106372insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149132737419.

rs1491327374 has merged into rs398037181 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:40592279 (GRCh38)
22:40988283 (GRCh37)
Canonical SPDI:: NC_000022.11:40592266:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:40592266:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:40592266:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:40592266:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:40592266:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:40592266:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:40592266:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40592266:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40592266:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:40592266:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MRTFA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000113/30 (TOPMED)
HGVS:: NC_000022.11:g.40592279_40592285del, NC_000022.11:g.40592280_40592285del, NC_000022.11:g.40592283_40592285del, NC_000022.11:g.40592284_40592285del, NC_000022.11:g.40592285del, NC_000022.11:g.40592285dup, NC_000022.11:g.40592284_40592285dup, NC_000022.11:g.40592283_40592285dup, NC_000022.11:g.40592282_40592285dup, NC_000022.11:g.40592281_40592285dup, NC_000022.10:g.40988283_40988289del, NC_000022.10:g.40988284_40988289del, NC_000022.10:g.40988287_40988289del, NC_000022.10:g.40988288_40988289del, NC_000022.10:g.40988289del, NC_000022.10:g.40988289dup, NC_000022.10:g.40988288_40988289dup, NC_000022.10:g.40988287_40988289dup, NC_000022.10:g.40988286_40988289dup, NC_000022.10:g.40988285_40988289dup, NG_065810.1:g.49447_49453del, NG_065810.1:g.49448_49453del, NG_065810.1:g.49451_49453del, NG_065810.1:g.49452_49453del, NG_065810.1:g.49453del, NG_065810.1:g.49453dup, NG_065810.1:g.49452_49453dup, NG_065810.1:g.49451_49453dup, NG_065810.1:g.49450_49453dup, NG_065810.1:g.49449_49453dup

Select item 149129285220.

rs1491292852 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 22:40540796 (GRCh38)
22:40936800 (GRCh37)
Canonical SPDI:: NC_000022.11:40540795:AC:
Gene:: MRTFA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000173/24 (GnomAD)
-=0.010929/20 (Korea1K)
-=0.015662/261 (TOMMO)
HGVS:: NC_000022.11:g.40540796_40540797del, NC_000022.10:g.40936800_40936801del, NG_065810.1:g.100923_100924del

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