SNP Links for Nucleotide (Select 926657685) - SNP

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Select item 14915771741.

rs1491577174 has merged into rs35424710 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 22:36383674 (GRCh38)
22:36779719 (GRCh37)
Canonical SPDI:: NC_000022.11:36383665:GGGGGGGGGG:GGGGGGGG,NC_000022.11:36383665:GGGGGGGGGG:GGGGGGGGG,NC_000022.11:36383665:GGGGGGGGGG:GGGGGGGGGGG,NC_000022.11:36383665:GGGGGGGGGG:GGGGGGGGGGGG,NC_000022.11:36383665:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000022.11:36383665:GGGGGGGGGG:GGGGGGGGGGGGGG,NC_000022.11:36383665:GGGGGGGGGG:GGGGGGGGGGGGGGG
Gene:: MYH9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGGGG=0./0 (ALFA)
GGGGG=0.000004/1 (TOPMED)
-=0.276957/1387 (1000Genomes)
HGVS:: NC_000022.11:g.36383674_36383675del, NC_000022.11:g.36383675del, NC_000022.11:g.36383675dup, NC_000022.11:g.36383674_36383675dup, NC_000022.11:g.36383673_36383675dup, NC_000022.11:g.36383672_36383675dup, NC_000022.11:g.36383671_36383675dup, NC_000022.10:g.36779719_36779720del, NC_000022.10:g.36779720del, NC_000022.10:g.36779720dup, NC_000022.10:g.36779719_36779720dup, NC_000022.10:g.36779718_36779720dup, NC_000022.10:g.36779717_36779720dup, NC_000022.10:g.36779716_36779720dup, NG_011884.2:g.9352_9353del, NG_011884.2:g.9353del, NG_011884.2:g.9353dup, NG_011884.2:g.9352_9353dup, NG_011884.2:g.9351_9353dup, NG_011884.2:g.9350_9353dup, NG_011884.2:g.9349_9353dup

Select item 14915720552.

rs1491572055 has merged into rs3220842 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,CAA,CACAA,CACACAA,CACACACAA,CACACACACAA,CACACACACACAA,CACACACACACACAA,CACACACACACACACAA,CACACACACACACACACAA,CACACACACACACAGA,CACACACACACAGA,CACACACACAGA,CAGA [Show Flanks]
Chromosome:: 22:36355000 (GRCh38)
22:36751046 (GRCh37)
Canonical SPDI:: NC_000022.11:36355000:A:AA,NC_000022.11:36355000:A:ACAA,NC_000022.11:36355000:A:ACACAA,NC_000022.11:36355000:A:ACACACAA,NC_000022.11:36355000:A:ACACACACAA,NC_000022.11:36355000:A:ACACACACACAA,NC_000022.11:36355000:A:ACACACACACACAA,NC_000022.11:36355000:A:ACACACACACACACAA,NC_000022.11:36355000:A:ACACACACACACACACAA,NC_000022.11:36355000:A:ACACACACACACACACACAA,NC_000022.11:36355000:A:ACACACACACACACAGA,NC_000022.11:36355000:A:ACACACACACACAGA,NC_000022.11:36355000:A:ACACACACACAGA,NC_000022.11:36355000:A:ACAGA
Gene:: MYH9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAGA=0./0 (ALFA)
ACAG=0.000008/2 (TOPMED)
ACACACACACACAG=0.000312/2 (1000Genomes)
HGVS:: NC_000022.11:g.36355001dup, NC_000022.11:g.36355001_36355002insCAA, NC_000022.11:g.36355001AC[2]AA[1], NC_000022.11:g.36355001AC[3]AA[1], NC_000022.11:g.36355001AC[4]AA[1], NC_000022.11:g.36355001AC[5]AA[1], NC_000022.11:g.36355001AC[6]AA[1], NC_000022.11:g.36355001AC[7]AA[1], NC_000022.11:g.36355001AC[8]AA[1], NC_000022.11:g.36355001AC[9]AA[1], NC_000022.11:g.36355001AC[7]AGA[1], NC_000022.11:g.36355001AC[6]AGA[1], NC_000022.11:g.36355001AC[5]AGA[1], NC_000022.11:g.36355001_36355002insCAGA, NC_000022.10:g.36751046dup, NC_000022.10:g.36751046_36751047insCAA, NC_000022.10:g.36751046AC[2]AA[1], NC_000022.10:g.36751046AC[3]AA[1], NC_000022.10:g.36751046AC[4]AA[1], NC_000022.10:g.36751046AC[5]AA[1], NC_000022.10:g.36751046AC[6]AA[1], NC_000022.10:g.36751046AC[7]AA[1], NC_000022.10:g.36751046AC[8]AA[1], NC_000022.10:g.36751046AC[9]AA[1], NC_000022.10:g.36751046AC[7]AGA[1], NC_000022.10:g.36751046AC[6]AGA[1], NC_000022.10:g.36751046AC[5]AGA[1], NC_000022.10:g.36751046_36751047insCAGA, NG_011884.2:g.38018dup, NG_011884.2:g.38018_38019insTGT, NG_011884.2:g.38018_38019insTGTGT, NG_011884.2:g.38018_38019insTGTGTGT, NG_011884.2:g.38018_38019insTGTGTGTGT, NG_011884.2:g.38018_38019insTGTGTGTGTGT, NG_011884.2:g.38018_38019insTGTGTGTGTGTGT, NG_011884.2:g.38018_38019insTGTGTGTGTGTGTGT, NG_011884.2:g.38018_38019insTGTGTGTGTGTGTGTGT, NG_011884.2:g.38018_38019insTGTGTGTGTGTGTGTGTGT, NG_011884.2:g.38018_38019insCTGTGTGTGTGTGTGT, NG_011884.2:g.38018_38019insCTGTGTGTGTGTGT, NG_011884.2:g.38018_38019insCTGTGTGTGTGT, NG_011884.2:g.38018_38019insCTGT

Select item 14915381483.

rs1491538148 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:36389532 (GRCh38)
22:36785577 (GRCh37)
Canonical SPDI:: NC_000022.11:36389531:CA:
Gene:: MYH9 (Varview), MYH9-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.36389532_36389533del, NC_000022.10:g.36785577_36785578del, NG_011884.2:g.3486_3487del

Select item 14915379164.

rs1491537916 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:36390117 (GRCh38)
22:36786162 (GRCh37)
Canonical SPDI:: NC_000022.11:36390116:CA:
Gene:: MYH9-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.36390117_36390118del, NC_000022.10:g.36786162_36786163del, NG_011884.2:g.2901_2902del

Select item 14915023945.

rs1491502394 has merged into rs770726682 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 22:36280439 (GRCh38)
22:36676485 (GRCh37)
Canonical SPDI:: NC_000022.11:36280426:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:36280426:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:36280426:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:36280426:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:36280426:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:36280426:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.010563/6 (NorthernSweden)
AA=0.062792/242 (ALSPAC)
AA=0.06931/257 (TWINSUK)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000022.11:g.36280439_36280442del, NC_000022.11:g.36280440_36280442del, NC_000022.11:g.36280441_36280442del, NC_000022.11:g.36280442del, NC_000022.11:g.36280442dup, NC_000022.11:g.36280441_36280442dup, NC_000022.10:g.36676485_36676488del, NC_000022.10:g.36676486_36676488del, NC_000022.10:g.36676487_36676488del, NC_000022.10:g.36676488del, NC_000022.10:g.36676488dup, NC_000022.10:g.36676487_36676488dup, NG_011884.2:g.112589_112592del, NG_011884.2:g.112590_112592del, NG_011884.2:g.112591_112592del, NG_011884.2:g.112592del, NG_011884.2:g.112592dup, NG_011884.2:g.112591_112592dup

Select item 14914940746.

rs1491494074 has merged into rs36028454 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 22:36347818 (GRCh38)
22:36743863 (GRCh37)
Canonical SPDI:: NC_000022.11:36347801:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:36347801:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:36347801:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:36347801:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:36347801:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36347801:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36347801:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MYH9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
AAAAA=0.00507/3 (NorthernSweden)
HGVS:: NC_000022.11:g.36347818_36347819del, NC_000022.11:g.36347819del, NC_000022.11:g.36347819dup, NC_000022.11:g.36347818_36347819dup, NC_000022.11:g.36347816_36347819dup, NC_000022.11:g.36347815_36347819dup, NC_000022.11:g.36347814_36347819dup, NC_000022.10:g.36743863_36743864del, NC_000022.10:g.36743864del, NC_000022.10:g.36743864dup, NC_000022.10:g.36743863_36743864dup, NC_000022.10:g.36743861_36743864dup, NC_000022.10:g.36743860_36743864dup, NC_000022.10:g.36743859_36743864dup, NG_011884.2:g.45216_45217del, NG_011884.2:g.45217del, NG_011884.2:g.45217dup, NG_011884.2:g.45216_45217dup, NG_011884.2:g.45214_45217dup, NG_011884.2:g.45213_45217dup, NG_011884.2:g.45212_45217dup

Select item 14914705067.

rs1491470506 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GACACGGGGGGCGCCGGGG [Show Flanks]
Chromosome:: 22:36387519 (GRCh38)
22:36783565 (GRCh37)
Canonical SPDI:: NC_000022.11:36387519:GCGCCGGGGGACACGGGGGGCGCCGGGG:GCGCCGGGGGACACGGGGGGCGCCGGGGGACACGGGGGGCGCCGGGG
Gene:: MYH9 (Varview), MYH9-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCCGGGGGACACGGGGGGCGCCGGGGGACACGGGGGGCGCCGGGG=0./0 (ALFA)
GCGCCGGGGGACACGGGGG=0.000004/1 (TOPMED)
GCGCCGGGGGACACGGGGG=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.36387529_36387547dup, NC_000022.10:g.36783574_36783592dup, NG_011884.2:g.5481_5499dup

Select item 14914435838.

rs1491443583 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:36347801 (GRCh38)
22:36743846 (GRCh37)
Canonical SPDI:: NC_000022.11:36347800:CA:
Gene:: MYH9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00194/23 (ALFA)
HGVS:: NC_000022.11:g.36347801_36347802del, NC_000022.10:g.36743846_36743847del, NG_011884.2:g.45217_45218del

Select item 14914426019.

rs1491442601 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 22:36293994 (GRCh38)
22:36690040 (GRCh37)
Canonical SPDI:: NC_000022.11:36293993:AA:
Gene:: MYH9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.36293994_36293995del, NC_000022.10:g.36690040_36690041del, NG_011884.2:g.99024_99025del

Select item 149143989210.

rs1491439892 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 22:36383665 (GRCh38)
22:36779710 (GRCh37)
Canonical SPDI:: NC_000022.11:36383664:AG:
Gene:: MYH9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00007/1 (ALFA)
-=0.00018/17 (GnomAD)
HGVS:: NC_000022.11:g.36383665_36383666del, NC_000022.10:g.36779710_36779711del, NG_011884.2:g.9353_9354del

Select item 149139923911.

rs1491399239 has merged into rs56983008 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:36303791 (GRCh38)
22:36699837 (GRCh37)
Canonical SPDI:: NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36303784:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MYH9 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
AAAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000022.11:g.36303791_36303803del, NC_000022.11:g.36303792_36303803del, NC_000022.11:g.36303793_36303803del, NC_000022.11:g.36303794_36303803del, NC_000022.11:g.36303795_36303803del, NC_000022.11:g.36303796_36303803del, NC_000022.11:g.36303797_36303803del, NC_000022.11:g.36303801_36303803del, NC_000022.11:g.36303802_36303803del, NC_000022.11:g.36303803del, NC_000022.11:g.36303803dup, NC_000022.11:g.36303802_36303803dup, NC_000022.11:g.36303801_36303803dup, NC_000022.11:g.36303800_36303803dup, NC_000022.11:g.36303799_36303803dup, NC_000022.11:g.36303795_36303803dup, NC_000022.11:g.36303794_36303803dup, NC_000022.11:g.36303793_36303803dup, NC_000022.11:g.36303792_36303803dup, NC_000022.10:g.36699837_36699849del, NC_000022.10:g.36699838_36699849del, NC_000022.10:g.36699839_36699849del, NC_000022.10:g.36699840_36699849del, NC_000022.10:g.36699841_36699849del, NC_000022.10:g.36699842_36699849del, NC_000022.10:g.36699843_36699849del, NC_000022.10:g.36699847_36699849del, NC_000022.10:g.36699848_36699849del, NC_000022.10:g.36699849del, NC_000022.10:g.36699849dup, NC_000022.10:g.36699848_36699849dup, NC_000022.10:g.36699847_36699849dup, NC_000022.10:g.36699846_36699849dup, NC_000022.10:g.36699845_36699849dup, NC_000022.10:g.36699841_36699849dup, NC_000022.10:g.36699840_36699849dup, NC_000022.10:g.36699839_36699849dup, NC_000022.10:g.36699838_36699849dup, NG_011884.2:g.89222_89234del, NG_011884.2:g.89223_89234del, NG_011884.2:g.89224_89234del, NG_011884.2:g.89225_89234del, NG_011884.2:g.89226_89234del, NG_011884.2:g.89227_89234del, NG_011884.2:g.89228_89234del, NG_011884.2:g.89232_89234del, NG_011884.2:g.89233_89234del, NG_011884.2:g.89234del, NG_011884.2:g.89234dup, NG_011884.2:g.89233_89234dup, NG_011884.2:g.89232_89234dup, NG_011884.2:g.89231_89234dup, NG_011884.2:g.89230_89234dup, NG_011884.2:g.89226_89234dup, NG_011884.2:g.89225_89234dup, NG_011884.2:g.89224_89234dup, NG_011884.2:g.89223_89234dup

Select item 149137458812.

rs1491374588 has merged into rs11324110 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 22:36389716 (GRCh38)
22:36785761 (GRCh37)
Canonical SPDI:: NC_000022.11:36389707:AAAAAAAAAA:AAAAAAAA,NC_000022.11:36389707:AAAAAAAAAA:AAAAAAAAA,NC_000022.11:36389707:AAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:36389707:AAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:36389707:AAAAAAAAAA:AAAAAAAAAAAAA
Gene:: MYH9 (Varview), MYH9-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0.0024/16 (ALFA)
A=0.1593/272 (1000Genomes)
HGVS:: NC_000022.11:g.36389716_36389717del, NC_000022.11:g.36389717del, NC_000022.11:g.36389717dup, NC_000022.11:g.36389716_36389717dup, NC_000022.11:g.36389715_36389717dup, NC_000022.10:g.36785761_36785762del, NC_000022.10:g.36785762del, NC_000022.10:g.36785762dup, NC_000022.10:g.36785761_36785762dup, NC_000022.10:g.36785760_36785762dup, NG_011884.2:g.3310_3311del, NG_011884.2:g.3311del, NG_011884.2:g.3311dup, NG_011884.2:g.3310_3311dup, NG_011884.2:g.3309_3311dup

Select item 149135504813.

rs1491355048 has merged into rs56147525 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,CC,CCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 22:36348850 (GRCh38)
22:36744895 (GRCh37)
Canonical SPDI:: NC_000022.11:36348841:CCCCCCCCCCCC:CCCCCCCC,NC_000022.11:36348841:CCCCCCCCCCCC:CCCCCCCCCC,NC_000022.11:36348841:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000022.11:36348841:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000022.11:36348841:CCCCCCCCCCCC:CCCCCCCCCCCCCC
Gene:: MYH9 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCC=0./0 (ALFA)
C=0.0379/146 (ALSPAC)
C=0.0504/187 (TWINSUK)
HGVS:: NC_000022.11:g.36348850_36348853del, NC_000022.11:g.36348852_36348853del, NC_000022.11:g.36348853del, NC_000022.11:g.36348853dup, NC_000022.11:g.36348852_36348853dup, NC_000022.10:g.36744895_36744898del, NC_000022.10:g.36744897_36744898del, NC_000022.10:g.36744898del, NC_000022.10:g.36744898dup, NC_000022.10:g.36744897_36744898dup, NG_011884.2:g.44174_44177del, NG_011884.2:g.44176_44177del, NG_011884.2:g.44177del, NG_011884.2:g.44177dup, NG_011884.2:g.44176_44177dup

Select item 149132690614.

rs1491326906 has merged into rs35424710 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 22:36383674 (GRCh38)
22:36779719 (GRCh37)
Canonical SPDI:: NC_000022.11:36383665:GGGGGGGGGG:GGGGGGGG,NC_000022.11:36383665:GGGGGGGGGG:GGGGGGGGG,NC_000022.11:36383665:GGGGGGGGGG:GGGGGGGGGGG,NC_000022.11:36383665:GGGGGGGGGG:GGGGGGGGGGGG,NC_000022.11:36383665:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000022.11:36383665:GGGGGGGGGG:GGGGGGGGGGGGGG,NC_000022.11:36383665:GGGGGGGGGG:GGGGGGGGGGGGGGG
Gene:: MYH9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGGGG=0./0 (ALFA)
GGGGG=0.000004/1 (TOPMED)
-=0.276957/1387 (1000Genomes)
HGVS:: NC_000022.11:g.36383674_36383675del, NC_000022.11:g.36383675del, NC_000022.11:g.36383675dup, NC_000022.11:g.36383674_36383675dup, NC_000022.11:g.36383673_36383675dup, NC_000022.11:g.36383672_36383675dup, NC_000022.11:g.36383671_36383675dup, NC_000022.10:g.36779719_36779720del, NC_000022.10:g.36779720del, NC_000022.10:g.36779720dup, NC_000022.10:g.36779719_36779720dup, NC_000022.10:g.36779718_36779720dup, NC_000022.10:g.36779717_36779720dup, NC_000022.10:g.36779716_36779720dup, NG_011884.2:g.9352_9353del, NG_011884.2:g.9353del, NG_011884.2:g.9353dup, NG_011884.2:g.9352_9353dup, NG_011884.2:g.9351_9353dup, NG_011884.2:g.9350_9353dup, NG_011884.2:g.9349_9353dup

Select item 149132667415.

rs1491326674 has merged into rs55999598 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:36390128 (GRCh38)
22:36786173 (GRCh37)
Canonical SPDI:: NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36390117:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MYH9-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAA=0./0 (GENOME_DK)
-=0.1066/411 (ALSPAC)
HGVS:: NC_000022.11:g.36390128_36390147del, NC_000022.11:g.36390129_36390147del, NC_000022.11:g.36390130_36390147del, NC_000022.11:g.36390131_36390147del, NC_000022.11:g.36390132_36390147del, NC_000022.11:g.36390133_36390147del, NC_000022.11:g.36390134_36390147del, NC_000022.11:g.36390135_36390147del, NC_000022.11:g.36390136_36390147del, NC_000022.11:g.36390137_36390147del, NC_000022.11:g.36390138_36390147del, NC_000022.11:g.36390139_36390147del, NC_000022.11:g.36390140_36390147del, NC_000022.11:g.36390141_36390147del, NC_000022.11:g.36390142_36390147del, NC_000022.11:g.36390143_36390147del, NC_000022.11:g.36390144_36390147del, NC_000022.11:g.36390145_36390147del, NC_000022.11:g.36390146_36390147del, NC_000022.11:g.36390147del, NC_000022.11:g.36390147dup, NC_000022.11:g.36390146_36390147dup, NC_000022.11:g.36390145_36390147dup, NC_000022.11:g.36390144_36390147dup, NC_000022.11:g.36390143_36390147dup, NC_000022.11:g.36390142_36390147dup, NC_000022.11:g.36390138_36390147dup, NC_000022.11:g.36390125_36390147dup, NC_000022.10:g.36786173_36786192del, NC_000022.10:g.36786174_36786192del, NC_000022.10:g.36786175_36786192del, NC_000022.10:g.36786176_36786192del, NC_000022.10:g.36786177_36786192del, NC_000022.10:g.36786178_36786192del, NC_000022.10:g.36786179_36786192del, NC_000022.10:g.36786180_36786192del, NC_000022.10:g.36786181_36786192del, NC_000022.10:g.36786182_36786192del, NC_000022.10:g.36786183_36786192del, NC_000022.10:g.36786184_36786192del, NC_000022.10:g.36786185_36786192del, NC_000022.10:g.36786186_36786192del, NC_000022.10:g.36786187_36786192del, NC_000022.10:g.36786188_36786192del, NC_000022.10:g.36786189_36786192del, NC_000022.10:g.36786190_36786192del, NC_000022.10:g.36786191_36786192del, NC_000022.10:g.36786192del, NC_000022.10:g.36786192dup, NC_000022.10:g.36786191_36786192dup, NC_000022.10:g.36786190_36786192dup, NC_000022.10:g.36786189_36786192dup, NC_000022.10:g.36786188_36786192dup, NC_000022.10:g.36786187_36786192dup, NC_000022.10:g.36786183_36786192dup, NC_000022.10:g.36786170_36786192dup, NG_011884.2:g.2882_2901del, NG_011884.2:g.2883_2901del, NG_011884.2:g.2884_2901del, NG_011884.2:g.2885_2901del, NG_011884.2:g.2886_2901del, NG_011884.2:g.2887_2901del, NG_011884.2:g.2888_2901del, NG_011884.2:g.2889_2901del, NG_011884.2:g.2890_2901del, NG_011884.2:g.2891_2901del, NG_011884.2:g.2892_2901del, NG_011884.2:g.2893_2901del, NG_011884.2:g.2894_2901del, NG_011884.2:g.2895_2901del, NG_011884.2:g.2896_2901del, NG_011884.2:g.2897_2901del, NG_011884.2:g.2898_2901del, NG_011884.2:g.2899_2901del, NG_011884.2:g.2900_2901del, NG_011884.2:g.2901del, NG_011884.2:g.2901dup, NG_011884.2:g.2900_2901dup, NG_011884.2:g.2899_2901dup, NG_011884.2:g.2898_2901dup, NG_011884.2:g.2897_2901dup, NG_011884.2:g.2896_2901dup, NG_011884.2:g.2892_2901dup, NG_011884.2:g.2879_2901dup

Select item 149131797716.

rs1491317977 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 22:36387522 (GRCh38)
22:36783567 (GRCh37)
Canonical SPDI:: NC_000022.11:36387518:CGCGC:CGC
Gene:: MYH9 (Varview), MYH9-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.36387520GC[1], NC_000022.10:g.36783565GC[1], NG_011884.2:g.5497CG[1]

Select item 149130541617.

rs1491305416 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:36303784 (GRCh38)
22:36699830 (GRCh37)
Canonical SPDI:: NC_000022.11:36303783:CA:
Gene:: MYH9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00012/2 (TOMMO)
HGVS:: NC_000022.11:g.36303784_36303785del, NC_000022.10:g.36699830_36699831del, NG_011884.2:g.89234_89235del

Select item 149130532218.

rs1491305322 has merged into rs66686435 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACAGACAAAAGAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:36291693 (GRCh38)
22:36687739 (GRCh37)
Canonical SPDI:: NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36291683:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACAGACAAAAGAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MYH9 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.4924/2466 (1000Genomes)
HGVS:: NC_000022.11:g.36291693_36291706del, NC_000022.11:g.36291694_36291706del, NC_000022.11:g.36291695_36291706del, NC_000022.11:g.36291697_36291706del, NC_000022.11:g.36291698_36291706del, NC_000022.11:g.36291699_36291706del, NC_000022.11:g.36291700_36291706del, NC_000022.11:g.36291702_36291706del, NC_000022.11:g.36291703_36291706del, NC_000022.11:g.36291704_36291706del, NC_000022.11:g.36291705_36291706del, NC_000022.11:g.36291706del, NC_000022.11:g.36291706dup, NC_000022.11:g.36291705_36291706dup, NC_000022.11:g.36291704_36291706dup, NC_000022.11:g.36291703_36291706dup, NC_000022.11:g.36291702_36291706dup, NC_000022.11:g.36291701_36291706dup, NC_000022.11:g.36291700_36291706dup, NC_000022.11:g.36291699_36291706dup, NC_000022.11:g.36291698_36291706dup, NC_000022.11:g.36291697_36291706dup, NC_000022.11:g.36291696_36291706dup, NC_000022.11:g.36291695_36291706dup, NC_000022.11:g.36291694_36291706dup, NC_000022.11:g.36291693_36291706dup, NC_000022.11:g.36291692_36291706dup, NC_000022.11:g.36291691_36291706dup, NC_000022.11:g.36291690_36291706dup, NC_000022.11:g.36291706_36291707insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.36291684_36291706A[25]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000022.11:g.36291684_36291706A[24]CAGACAAAAGAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000022.10:g.36687739_36687752del, NC_000022.10:g.36687740_36687752del, NC_000022.10:g.36687741_36687752del, NC_000022.10:g.36687743_36687752del, NC_000022.10:g.36687744_36687752del, NC_000022.10:g.36687745_36687752del, NC_000022.10:g.36687746_36687752del, NC_000022.10:g.36687748_36687752del, NC_000022.10:g.36687749_36687752del, NC_000022.10:g.36687750_36687752del, NC_000022.10:g.36687751_36687752del, NC_000022.10:g.36687752del, NC_000022.10:g.36687752dup, NC_000022.10:g.36687751_36687752dup, NC_000022.10:g.36687750_36687752dup, NC_000022.10:g.36687749_36687752dup, NC_000022.10:g.36687748_36687752dup, NC_000022.10:g.36687747_36687752dup, NC_000022.10:g.36687746_36687752dup, NC_000022.10:g.36687745_36687752dup, NC_000022.10:g.36687744_36687752dup, NC_000022.10:g.36687743_36687752dup, NC_000022.10:g.36687742_36687752dup, NC_000022.10:g.36687741_36687752dup, NC_000022.10:g.36687740_36687752dup, NC_000022.10:g.36687739_36687752dup, NC_000022.10:g.36687738_36687752dup, NC_000022.10:g.36687737_36687752dup, NC_000022.10:g.36687736_36687752dup, NC_000022.10:g.36687752_36687753insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.36687730_36687752A[25]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000022.10:g.36687730_36687752A[24]CAGACAAAAGAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_011884.2:g.101322_101335del, NG_011884.2:g.101323_101335del, NG_011884.2:g.101324_101335del, NG_011884.2:g.101326_101335del, NG_011884.2:g.101327_101335del, NG_011884.2:g.101328_101335del, NG_011884.2:g.101329_101335del, NG_011884.2:g.101331_101335del, NG_011884.2:g.101332_101335del, NG_011884.2:g.101333_101335del, NG_011884.2:g.101334_101335del, NG_011884.2:g.101335del, NG_011884.2:g.101335dup, NG_011884.2:g.101334_101335dup, NG_011884.2:g.101333_101335dup, NG_011884.2:g.101332_101335dup, NG_011884.2:g.101331_101335dup, NG_011884.2:g.101330_101335dup, NG_011884.2:g.101329_101335dup, NG_011884.2:g.101328_101335dup, NG_011884.2:g.101327_101335dup, NG_011884.2:g.101326_101335dup, NG_011884.2:g.101325_101335dup, NG_011884.2:g.101324_101335dup, NG_011884.2:g.101323_101335dup, NG_011884.2:g.101322_101335dup, NG_011884.2:g.101321_101335dup, NG_011884.2:g.101320_101335dup, NG_011884.2:g.101319_101335dup, NG_011884.2:g.101335_101336insTTTTTTTTTTTTTTTTTTTTTTTT, NG_011884.2:g.101313_101335T[23]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_011884.2:g.101313_101335T[38]CTTTTTTTTTCTTTTGTCTGTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149128445319.

rs1491284453 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:36375956 (GRCh38)
22:36772002 (GRCh37)
Canonical SPDI:: NC_000022.11:36375956::A
Gene:: MYH9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.36375956_36375957insA, NC_000022.10:g.36772001_36772002insA, NG_011884.2:g.17062_17063insT

Select item 149127670120.

rs1491276701 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:36345311 (GRCh38)
22:36741356 (GRCh37)
Canonical SPDI:: NC_000022.11:36345310:CA:
Gene:: MYH9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000022.11:g.36345311_36345312del, NC_000022.10:g.36741356_36741357del, NG_011884.2:g.47707_47708del

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