SNP Links for Gene (Select 4643) - SNP

Links from Gene

Items: 1 to 20 of 61974

<< First< Prev

Page of 3099

Next >Last >>

Select item 14915872951.

rs1491587295 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 15:59213144 (GRCh38)
15:59505344 (GRCh37)
Canonical SPDI:: NC_000015.10:59213144:A:AA
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.59213145dup, NC_000015.9:g.59505344dup, NG_031999.1:g.164728dup

Select item 14915824542.

rs1491582454 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:59308671 (GRCh38)
15:59600870 (GRCh37)
Canonical SPDI:: NC_000015.10:59308670:CA:
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.59308671_59308672del, NC_000015.9:g.59600870_59600871del, NG_031999.1:g.69201_69202del

Select item 14915796363.

rs1491579636 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 15:59205990 (GRCh38)
15:59498189 (GRCh37)
Canonical SPDI:: NC_000015.10:59205988:AGA:A
Gene:: MYO1E (Varview), LDHAL6B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000015.10:g.59205990_59205991del, NC_000015.9:g.59498189_59498190del, NG_031999.1:g.171883_171884del

Select item 14915480254.

rs1491548025 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 15:59233685 (GRCh38)
15:59525884 (GRCh37)
Canonical SPDI:: NC_000015.10:59233684:AG:
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000058/8 (GnomAD)
HGVS:: NC_000015.10:g.59233685_59233686del, NC_000015.9:g.59525884_59525885del, NG_031999.1:g.144187_144188del

Select item 14915351745.

rs1491535174 has merged into rs35031801 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 15:59191370 (GRCh38)
15:59483569 (GRCh37)
Canonical SPDI:: NC_000015.10:59191368:AAA:A,NC_000015.10:59191368:AAA:AA
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.01627/193 (ALFA)
-=0.002265/38 (TOMMO)
-=0.006689/4 (NorthernSweden)
-=0.018911/2420 (GnomAD)
-=0.05/2 (GENOME_DK)
-=0.143743/533 (TWINSUK)
-=0.151271/583 (ALSPAC)
HGVS:: NC_000015.10:g.59191370_59191371del, NC_000015.10:g.59191371del, NC_000015.9:g.59483569_59483570del, NC_000015.9:g.59483570del, NG_031999.1:g.186503_186504del, NG_031999.1:g.186504del

Select item 14915344136.

rs1491534413 has merged into rs66848377 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:59367011 (GRCh38)
15:59659210 (GRCh37)
Canonical SPDI:: NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59366997:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.59367011_59367022del, NC_000015.10:g.59367012_59367022del, NC_000015.10:g.59367014_59367022del, NC_000015.10:g.59367015_59367022del, NC_000015.10:g.59367016_59367022del, NC_000015.10:g.59367017_59367022del, NC_000015.10:g.59367018_59367022del, NC_000015.10:g.59367019_59367022del, NC_000015.10:g.59367020_59367022del, NC_000015.10:g.59367021_59367022del, NC_000015.10:g.59367022del, NC_000015.10:g.59367022dup, NC_000015.10:g.59367021_59367022dup, NC_000015.10:g.59367020_59367022dup, NC_000015.10:g.59367019_59367022dup, NC_000015.10:g.59367018_59367022dup, NC_000015.10:g.59367017_59367022dup, NC_000015.10:g.59367016_59367022dup, NC_000015.10:g.59366998_59367022A[31]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000015.9:g.59659210_59659221del, NC_000015.9:g.59659211_59659221del, NC_000015.9:g.59659213_59659221del, NC_000015.9:g.59659214_59659221del, NC_000015.9:g.59659215_59659221del, NC_000015.9:g.59659216_59659221del, NC_000015.9:g.59659217_59659221del, NC_000015.9:g.59659218_59659221del, NC_000015.9:g.59659219_59659221del, NC_000015.9:g.59659220_59659221del, NC_000015.9:g.59659221del, NC_000015.9:g.59659221dup, NC_000015.9:g.59659220_59659221dup, NC_000015.9:g.59659219_59659221dup, NC_000015.9:g.59659218_59659221dup, NC_000015.9:g.59659217_59659221dup, NC_000015.9:g.59659216_59659221dup, NC_000015.9:g.59659215_59659221dup, NC_000015.9:g.59659197_59659221A[31]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_031999.1:g.10864_10875del, NG_031999.1:g.10865_10875del, NG_031999.1:g.10867_10875del, NG_031999.1:g.10868_10875del, NG_031999.1:g.10869_10875del, NG_031999.1:g.10870_10875del, NG_031999.1:g.10871_10875del, NG_031999.1:g.10872_10875del, NG_031999.1:g.10873_10875del, NG_031999.1:g.10874_10875del, NG_031999.1:g.10875del, NG_031999.1:g.10875dup, NG_031999.1:g.10874_10875dup, NG_031999.1:g.10873_10875dup, NG_031999.1:g.10872_10875dup, NG_031999.1:g.10871_10875dup, NG_031999.1:g.10870_10875dup, NG_031999.1:g.10869_10875dup, NG_031999.1:g.10851_10875T[29]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14915325207.

rs1491532520 has merged into rs36088204 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 15:59308685 (GRCh38)
15:59600884 (GRCh37)
Canonical SPDI:: NC_000015.10:59308671:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:59308671:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:59308671:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:59308671:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:59308671:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:59308671:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:59308671:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0.0012/7 (ALFA)
AA=0.3029/1517 (1000Genomes)
HGVS:: NC_000015.10:g.59308685_59308689del, NC_000015.10:g.59308686_59308689del, NC_000015.10:g.59308687_59308689del, NC_000015.10:g.59308688_59308689del, NC_000015.10:g.59308689del, NC_000015.10:g.59308689dup, NC_000015.10:g.59308684_59308689dup, NC_000015.9:g.59600884_59600888del, NC_000015.9:g.59600885_59600888del, NC_000015.9:g.59600886_59600888del, NC_000015.9:g.59600887_59600888del, NC_000015.9:g.59600888del, NC_000015.9:g.59600888dup, NC_000015.9:g.59600883_59600888dup, NG_031999.1:g.69197_69201del, NG_031999.1:g.69198_69201del, NG_031999.1:g.69199_69201del, NG_031999.1:g.69200_69201del, NG_031999.1:g.69201del, NG_031999.1:g.69201dup, NG_031999.1:g.69196_69201dup

Select item 14915184558.

rs1491518455 has merged into rs71425847 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 15:59186406 (GRCh38)
15:59478605 (GRCh37)
Canonical SPDI:: NC_000015.10:59186405:AAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:59186405:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:59186405:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:59186405:AAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:59186405:AAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000015.10:g.59186416del, NC_000015.10:g.59186416dup, NC_000015.10:g.59186415_59186416dup, NC_000015.10:g.59186414_59186416dup, NC_000015.10:g.59186413_59186416dup, NC_000015.9:g.59478615del, NC_000015.9:g.59478615dup, NC_000015.9:g.59478614_59478615dup, NC_000015.9:g.59478613_59478615dup, NC_000015.9:g.59478612_59478615dup, NG_031999.1:g.191467del, NG_031999.1:g.191467dup, NG_031999.1:g.191466_191467dup, NG_031999.1:g.191465_191467dup, NG_031999.1:g.191464_191467dup

Select item 14915127279.

rs1491512727 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 15:59339853 (GRCh38)
15:59632052 (GRCh37)
Canonical SPDI:: NC_000015.10:59339851:TGT:T
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.59339853_59339854del, NC_000015.9:g.59632052_59632053del, NG_031999.1:g.38020_38021del

Select item 149149131410.

rs1491491314 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTGTGTGTGTGTATGTG,GTGTGTGTGTGTGTGTATGTG,GTGTGTGTGTGTGTGTGTATGTG,GTGTGTGTGTGTGTGTGTGTATGTG,GTGTGTGTGTGTGTGTGTGTGTATGTG,GTGTGTGTGTGTGTGTGTGTGTG,GTGTGTGTGTGTGTGTGTGTGTGTGTATGTG [Show Flanks]
Chromosome:: 15:59216667 (GRCh38)
15:59508867 (GRCh37)
Canonical SPDI:: NC_000015.10:59216667::GTGTGTGTGTGTATGTG,NC_000015.10:59216667::GTGTGTGTGTGTGTGTATGTG,NC_000015.10:59216667::GTGTGTGTGTGTGTGTGTATGTG,NC_000015.10:59216667::GTGTGTGTGTGTGTGTGTGTATGTG,NC_000015.10:59216667::GTGTGTGTGTGTGTGTGTGTGTATGTG,NC_000015.10:59216667::GTGTGTGTGTGTGTGTGTGTGTG,NC_000015.10:59216667::GTGTGTGTGTGTGTGTGTGTGTGTGTATGTG
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTATGTG=0./0 (ALFA)
HGVS:: NC_000015.10:g.59216667_59216668insGTGTGTGTGTGTATGTG, NC_000015.10:g.59216667_59216668insGTGTGTGTGTGTGTGTATGTG, NC_000015.10:g.59216667_59216668insGTGTGTGTGTGTGTGTGTATGTG, NC_000015.10:g.59216667_59216668insGTGTGTGTGTGTGTGTGTGTATGTG, NC_000015.10:g.59216667_59216668insGTGTGTGTGTGTGTGTGTGTGTATGTG, NC_000015.10:g.59216667_59216668insGTGTGTGTGTGTGTGTGTGTGTG, NC_000015.10:g.59216667_59216668insGTGTGTGTGTGTGTGTGTGTGTGTGTATGTG, NC_000015.9:g.59508866_59508867insGTGTGTGTGTGTATGTG, NC_000015.9:g.59508866_59508867insGTGTGTGTGTGTGTGTATGTG, NC_000015.9:g.59508866_59508867insGTGTGTGTGTGTGTGTGTATGTG, NC_000015.9:g.59508866_59508867insGTGTGTGTGTGTGTGTGTGTATGTG, NC_000015.9:g.59508866_59508867insGTGTGTGTGTGTGTGTGTGTGTATGTG, NC_000015.9:g.59508866_59508867insGTGTGTGTGTGTGTGTGTGTGTG, NC_000015.9:g.59508866_59508867insGTGTGTGTGTGTGTGTGTGTGTGTGTATGTG, NG_031999.1:g.161205_161206insCACATACACACACACAC, NG_031999.1:g.161205_161206insCACATACACACACACACACAC, NG_031999.1:g.161205_161206insCACATACACACACACACACACAC, NG_031999.1:g.161205_161206insCACATACACACACACACACACACAC, NG_031999.1:g.161205_161206insCACATACACACACACACACACACACAC, NG_031999.1:g.161205_161206insCACACACACACACACACACACAC, NG_031999.1:g.161205_161206insCACATACACACACACACACACACACACACAC

Select item 149147013611.

rs1491470136 has merged into rs10609706 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT [Show Flanks]
Chromosome:: 15:59230224 (GRCh38)
15:59522423 (GRCh37)
Canonical SPDI:: NC_000015.10:59230222:TTT:T,NC_000015.10:59230222:TTT:TTTT
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.240516/2853 (ALFA)
TT=0.056709/284 (1000Genomes)
-=0.2/8 (GENOME_DK)
-=0.325518/40359 (GnomAD)
-=0.375839/224 (NorthernSweden)
TT=0.388889/77 (Vietnamese)
-=0.402929/6743 (TOMMO)
HGVS:: NC_000015.10:g.59230224_59230225del, NC_000015.10:g.59230225dup, NC_000015.9:g.59522423_59522424del, NC_000015.9:g.59522424dup, NG_031999.1:g.147649_147650del, NG_031999.1:g.147650dup

Select item 149146610012.

rs1491466100 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCA,CCCCT,CCG,CCT,CG,G [Show Flanks]
Chromosome:: 15:59324673 (GRCh38)
15:59616873 (GRCh37)
Canonical SPDI:: NC_000015.10:59324673::CCA,NC_000015.10:59324673::CCCCT,NC_000015.10:59324673::CCG,NC_000015.10:59324673::CCT,NC_000015.10:59324673::CG,NC_000015.10:59324673::G
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCT=0./0 (ALFA)
CCA=0.00006/1 (TOMMO)
CG=0.00022/1 (Estonian)
HGVS:: NC_000015.10:g.59324673_59324674insCCA, NC_000015.10:g.59324673_59324674insCCCCT, NC_000015.10:g.59324673_59324674insCCG, NC_000015.10:g.59324673_59324674insCCT, NC_000015.10:g.59324673_59324674insCG, NC_000015.10:g.59324673_59324674insG, NC_000015.9:g.59616872_59616873insCCA, NC_000015.9:g.59616872_59616873insCCCCT, NC_000015.9:g.59616872_59616873insCCG, NC_000015.9:g.59616872_59616873insCCT, NC_000015.9:g.59616872_59616873insCG, NC_000015.9:g.59616872_59616873insG, NG_031999.1:g.53199_53200insTGG, NG_031999.1:g.53199_53200insAGGGG, NG_031999.1:g.53199_53200insCGG, NG_031999.1:g.53199_53200insAGG, NG_031999.1:g.53199_53200insCG, NG_031999.1:g.53199_53200insC

Select item 149146176313.

rs1491461763 has merged into rs56116339 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:59162665 (GRCh38)
15:59454864 (GRCh37)
Canonical SPDI:: NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAA,NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:59162659:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.30339/179 (NorthernSweden)
HGVS:: NC_000015.10:g.59162665_59162674del, NC_000015.10:g.59162670_59162674del, NC_000015.10:g.59162671_59162674del, NC_000015.10:g.59162672_59162674del, NC_000015.10:g.59162673_59162674del, NC_000015.10:g.59162674del, NC_000015.10:g.59162674dup, NC_000015.10:g.59162672_59162674dup, NC_000015.10:g.59162669_59162674dup, NC_000015.10:g.59162666_59162674dup, NC_000015.10:g.59162665_59162674dup, NC_000015.10:g.59162664_59162674dup, NC_000015.10:g.59162663_59162674dup, NC_000015.10:g.59162662_59162674dup, NC_000015.10:g.59162661_59162674dup, NC_000015.10:g.59162674_59162675insAAAAAAAAAAAAAAAAA, NC_000015.10:g.59162674_59162675insAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.59162674_59162675insAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.59454864_59454873del, NC_000015.9:g.59454869_59454873del, NC_000015.9:g.59454870_59454873del, NC_000015.9:g.59454871_59454873del, NC_000015.9:g.59454872_59454873del, NC_000015.9:g.59454873del, NC_000015.9:g.59454873dup, NC_000015.9:g.59454871_59454873dup, NC_000015.9:g.59454868_59454873dup, NC_000015.9:g.59454865_59454873dup, NC_000015.9:g.59454864_59454873dup, NC_000015.9:g.59454863_59454873dup, NC_000015.9:g.59454862_59454873dup, NC_000015.9:g.59454861_59454873dup, NC_000015.9:g.59454860_59454873dup, NC_000015.9:g.59454873_59454874insAAAAAAAAAAAAAAAAA, NC_000015.9:g.59454873_59454874insAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.59454873_59454874insAAAAAAAAAAAAAAAAAAAAA, NG_031999.1:g.215204_215213del, NG_031999.1:g.215209_215213del, NG_031999.1:g.215210_215213del, NG_031999.1:g.215211_215213del, NG_031999.1:g.215212_215213del, NG_031999.1:g.215213del, NG_031999.1:g.215213dup, NG_031999.1:g.215211_215213dup, NG_031999.1:g.215208_215213dup, NG_031999.1:g.215205_215213dup, NG_031999.1:g.215204_215213dup, NG_031999.1:g.215203_215213dup, NG_031999.1:g.215202_215213dup, NG_031999.1:g.215201_215213dup, NG_031999.1:g.215200_215213dup, NG_031999.1:g.215213_215214insTTTTTTTTTTTTTTTTT, NG_031999.1:g.215213_215214insTTTTTTTTTTTTTTTTTTTT, NG_031999.1:g.215213_215214insTTTTTTTTTTTTTTTTTTTTT

Select item 149145479014.

rs1491454790 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:59234822 (GRCh38)
15:59527021 (GRCh37)
Canonical SPDI:: NC_000015.10:59234821:CA:
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0258/306 (ALFA)
-=0.00254/71 (TOMMO)
HGVS:: NC_000015.10:g.59234822_59234823del, NC_000015.9:g.59527021_59527022del, NG_031999.1:g.143050_143051del

Select item 149145128915.

rs1491451289 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAGT,CAGTGT,CAGTGTGT,CAGTGTGTGT,CTGT,CTGTGT,CTGTGTGT,T,TGT [Show Flanks]
Chromosome:: 15:59230215 (GRCh38)
15:59522415 (GRCh37)
Canonical SPDI:: NC_000015.10:59230215::CAGT,NC_000015.10:59230215::CAGTGT,NC_000015.10:59230215::CAGTGTGT,NC_000015.10:59230215::CAGTGTGTGT,NC_000015.10:59230215::CTGT,NC_000015.10:59230215::CTGTGT,NC_000015.10:59230215::CTGTGTGT,NC_000015.10:59230215::T,NC_000015.10:59230215::TGT
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAGTGT=0./0 (ALFA)
T=0.00167/1 (NorthernSweden)
HGVS:: NC_000015.10:g.59230215_59230216insCAGT, NC_000015.10:g.59230215_59230216insCAGTGT, NC_000015.10:g.59230215_59230216insCAGTGTGT, NC_000015.10:g.59230215_59230216insCAGTGTGTGT, NC_000015.10:g.59230215_59230216insCTGT, NC_000015.10:g.59230215_59230216insCTGTGT, NC_000015.10:g.59230215_59230216insCTGTGTGT, NC_000015.10:g.59230215_59230216insT, NC_000015.10:g.59230215_59230216insTGT, NC_000015.9:g.59522414_59522415insCAGT, NC_000015.9:g.59522414_59522415insCAGTGT, NC_000015.9:g.59522414_59522415insCAGTGTGT, NC_000015.9:g.59522414_59522415insCAGTGTGTGT, NC_000015.9:g.59522414_59522415insCTGT, NC_000015.9:g.59522414_59522415insCTGTGT, NC_000015.9:g.59522414_59522415insCTGTGTGT, NC_000015.9:g.59522414_59522415insT, NC_000015.9:g.59522414_59522415insTGT, NG_031999.1:g.147657_147658insACTG, NG_031999.1:g.147657_147658insACACTG, NG_031999.1:g.147657_147658insACACACTG, NG_031999.1:g.147657_147658insACACACACTG, NG_031999.1:g.147657_147658insACAG, NG_031999.1:g.147657_147658insACACAG, NG_031999.1:g.147657_147658insACACACAG, NG_031999.1:g.147657_147658insA, NG_031999.1:g.147657_147658insACA

Select item 149145067416.

rs1491450674 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 15:59230215 (GRCh38)
15:59522414 (GRCh37)
Canonical SPDI:: NC_000015.10:59230214:AG:
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00406/46 (ALFA)
-=0.00112/17 (TOMMO)
-=0.00641/3 (NorthernSweden)
-=0.11779/5094 (GnomAD)
HGVS:: NC_000015.10:g.59230215_59230216del, NC_000015.9:g.59522414_59522415del, NG_031999.1:g.147657_147658del

Select item 149144855517.

rs1491448555 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTT [Show Flanks]
Chromosome:: 15:59149053 (GRCh38)
15:59441253 (GRCh37)
Canonical SPDI:: NC_000015.10:59149053:TT:TTGTT
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTGTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.59149055_59149056insGTT, NC_000015.9:g.59441254_59441255insGTT, NG_031999.1:g.228819_228820insCAA

Select item 149143674818.

rs1491436748 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:59324675 (GRCh38)
15:59616874 (GRCh37)
Canonical SPDI:: NC_000015.10:59324672:CACA:CA
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.59324673CA[1], NC_000015.9:g.59616872CA[1], NG_031999.1:g.53197TG[1]

Select item 149143643219.

rs1491436432 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:59366997 (GRCh38)
15:59659196 (GRCh37)
Canonical SPDI:: NC_000015.10:59366996:CA:
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000015.10:g.59366997_59366998del, NC_000015.9:g.59659196_59659197del, NG_031999.1:g.10875_10876del

Select item 149143301820.

rs1491433018 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:59339852 (GRCh38)
15:59632052 (GRCh37)
Canonical SPDI:: NC_000015.10:59339852:G:GG
Gene:: MYO1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.00025/19 (GnomAD)
HGVS:: NC_000015.10:g.59339853dup, NC_000015.9:g.59632052dup, NG_031999.1:g.38020dup

<< First< Prev

Page of 3099

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 61974

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity