SNP Links for Gene (Select 4647) - SNP

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Select item 14913295971.

rs1491329597 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:77162772 (GRCh38)
11:76873818 (GRCh37)
Canonical SPDI:: NC_000011.10:77162771:AG:
Gene:: MYO7A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.77162772_77162773del, NC_000011.9:g.76873818_76873819del, NG_009086.2:g.39527_39528del, NW_003871081.1:g.164408_164409del

Select item 14911860402.

rs1491186040 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:77162772 (GRCh38)
11:76873819 (GRCh37)
Canonical SPDI:: NC_000011.10:77162772:GGGGG:GGGGGG
Gene:: MYO7A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0.000214/3 (ALFA)
G=0.000043/6 (GnomAD)
G=0.000098/26 (TOPMED)
HGVS:: NC_000011.10:g.77162777dup, NC_000011.9:g.76873823dup, NG_009086.2:g.39532dup, NW_003871081.1:g.164413dup

Select item 14910092273.

rs1491009227 has merged into rs34558738 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:77134794 (GRCh38)
11:76845840 (GRCh37)
Canonical SPDI:: NC_000011.10:77134781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:77134781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:77134781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:77134781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:77134781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:77134781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:77134781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:77134781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:77134781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:77134781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:77134781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:77134781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:77134781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:77134781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MYO7A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.77134794_77134800del, NC_000011.10:g.77134795_77134800del, NC_000011.10:g.77134796_77134800del, NC_000011.10:g.77134797_77134800del, NC_000011.10:g.77134798_77134800del, NC_000011.10:g.77134799_77134800del, NC_000011.10:g.77134800del, NC_000011.10:g.77134800dup, NC_000011.10:g.77134799_77134800dup, NC_000011.10:g.77134798_77134800dup, NC_000011.10:g.77134797_77134800dup, NC_000011.10:g.77134796_77134800dup, NC_000011.10:g.77134794_77134800dup, NC_000011.10:g.77134793_77134800dup, NC_000011.9:g.76845840_76845846del, NC_000011.9:g.76845841_76845846del, NC_000011.9:g.76845842_76845846del, NC_000011.9:g.76845843_76845846del, NC_000011.9:g.76845844_76845846del, NC_000011.9:g.76845845_76845846del, NC_000011.9:g.76845846del, NC_000011.9:g.76845846dup, NC_000011.9:g.76845845_76845846dup, NC_000011.9:g.76845844_76845846dup, NC_000011.9:g.76845843_76845846dup, NC_000011.9:g.76845842_76845846dup, NC_000011.9:g.76845840_76845846dup, NC_000011.9:g.76845839_76845846dup, NG_009086.2:g.11549_11555del, NG_009086.2:g.11550_11555del, NG_009086.2:g.11551_11555del, NG_009086.2:g.11552_11555del, NG_009086.2:g.11553_11555del, NG_009086.2:g.11554_11555del, NG_009086.2:g.11555del, NG_009086.2:g.11555dup, NG_009086.2:g.11554_11555dup, NG_009086.2:g.11553_11555dup, NG_009086.2:g.11552_11555dup, NG_009086.2:g.11551_11555dup, NG_009086.2:g.11549_11555dup, NG_009086.2:g.11548_11555dup, NW_003871081.1:g.136430_136436del, NW_003871081.1:g.136431_136436del, NW_003871081.1:g.136432_136436del, NW_003871081.1:g.136433_136436del, NW_003871081.1:g.136434_136436del, NW_003871081.1:g.136435_136436del, NW_003871081.1:g.136436del, NW_003871081.1:g.136436dup, NW_003871081.1:g.136435_136436dup, NW_003871081.1:g.136434_136436dup, NW_003871081.1:g.136433_136436dup, NW_003871081.1:g.136432_136436dup, NW_003871081.1:g.136430_136436dup, NW_003871081.1:g.136429_136436dup

Select item 14909871134.

rs1490987113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:77197892 (GRCh38)
11:76908937 (GRCh37)
Canonical SPDI:: NC_000011.10:77197891:G:T
Gene:: MYO7A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.77197892G>T, NC_000011.9:g.76908937G>T, NG_009086.2:g.74647G>T

Select item 14909627545.

rs1490962754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:77198794 (GRCh38)
11:76909839 (GRCh37)
Canonical SPDI:: NC_000011.10:77198793:G:A
Gene:: MYO7A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.77198794G>A, NC_000011.9:g.76909839G>A, NG_009086.2:g.75549G>A

Select item 14909440406.

rs1490944040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:77134801 (GRCh38)
11:76845847 (GRCh37)
Canonical SPDI:: NC_000011.10:77134800:G:A,NC_000011.10:77134800:G:T
Gene:: MYO7A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.01292/216 (TOMMO)
T=0.01985/36 (Korea1K)
G=0.5/1 (Siberian)
HGVS:: NC_000011.10:g.77134801G>A, NC_000011.10:g.77134801G>T, NC_000011.9:g.76845847G>A, NC_000011.9:g.76845847G>T, NG_009086.2:g.11556G>A, NG_009086.2:g.11556G>T, NW_003871081.1:g.136437G>A, NW_003871081.1:g.136437G>T

Select item 14909040297.

rs1490904029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:77157800 (GRCh38)
11:76868846 (GRCh37)
Canonical SPDI:: NC_000011.10:77157799:G:A
Gene:: MYO7A (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.77157800G>A, NC_000011.9:g.76868846G>A, NG_009086.2:g.34555G>A, NW_003871081.1:g.159436G>A

Select item 14908853568.

rs1490885356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:77171909 (GRCh38)
11:76882955 (GRCh37)
Canonical SPDI:: NC_000011.10:77171908:G:A
Gene:: MYO7A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.77171909G>A, NC_000011.9:g.76882955G>A, NG_009086.2:g.48664G>A, NW_003871081.1:g.173545G>A

Select item 14908423299.

rs1490842329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:77185325 (GRCh38)
11:76896370 (GRCh37)
Canonical SPDI:: NC_000011.10:77185324:T:A
Gene:: MYO7A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000045/12 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000011.10:g.77185325T>A, NC_000011.9:g.76896370T>A, NG_009086.2:g.62080T>A, NW_003871081.1:g.186960T>A

Select item 149081193510.

rs1490811935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:77204567 (GRCh38)
11:76915612 (GRCh37)
Canonical SPDI:: NC_000011.10:77204566:C:T
Gene:: MYO7A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.77204567C>T, NC_000011.9:g.76915612C>T, NG_009086.2:g.81322C>T

Select item 149075607711.

rs1490756077 has merged into rs1317449023 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 11:77205731 (GRCh38)
11:76916776 (GRCh37)
Canonical SPDI:: NC_000011.10:77205730:GGGG:GGG,NC_000011.10:77205730:GGGG:GGGGG
Gene:: MYO7A (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.77205734del, NC_000011.10:g.77205734dup, NC_000011.9:g.76916779del, NC_000011.9:g.76916779dup, NG_009086.2:g.82489del, NG_009086.2:g.82489dup

Select item 149071226612.

rs1490712266 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:77141522 (GRCh38)
11:76852568 (GRCh37)
Canonical SPDI:: NC_000011.10:77141521:A:C,NC_000011.10:77141521:A:G
Gene:: MYO7A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000009/1 (GnomAD)
HGVS:: NC_000011.10:g.77141522A>C, NC_000011.10:g.77141522A>G, NC_000011.9:g.76852568A>C, NC_000011.9:g.76852568A>G, NG_009086.2:g.18277A>C, NG_009086.2:g.18277A>G, NW_003871081.1:g.143158A>C, NW_003871081.1:g.143158A>G

Select item 149069500813.

rs1490695008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:77127324 (GRCh38)
11:76838370 (GRCh37)
Canonical SPDI:: NC_000011.10:77127323:G:T
Gene:: MYO7A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00011/2 (TOMMO)
HGVS:: NC_000011.10:g.77127324G>T, NC_000011.9:g.76838370G>T, NG_009086.2:g.4079G>T, NG_033002.2:g.65355G>T, NG_033002.1:g.65379G>T, NW_003871081.1:g.128960G>T

Select item 149066574014.

rs1490665740 [Homo sapiens]

Variant type:: DEL
Alleles:: AGGTAGTTGTTTGTGATGGT>- [Show Flanks]
Chromosome:: 11:77193074 (GRCh38)
11:76904119 (GRCh37)
Canonical SPDI:: NC_000011.10:77193073:AGGTAGTTGTTTGTGATGGT:
Gene:: MYO7A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00066/1 (Korea1K)
-=0.00228/31 (TOMMO)
-=0.00263/1 (NorthernSweden)
-=0.02797/1680 (GnomAD)
HGVS:: NC_000011.10:g.77193074_77193093del, NC_000011.9:g.76904119_76904138del, NG_009086.2:g.69829_69848del

Select item 149055043815.

rs1490550438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:77142057 (GRCh38)
11:76853103 (GRCh37)
Canonical SPDI:: NC_000011.10:77142056:C:G
Gene:: MYO7A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.77142057C>G, NC_000011.9:g.76853103C>G, NG_009086.2:g.18812C>G, NW_003871081.1:g.143693C>G

Select item 149051273916.

rs1490512739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:77165613 (GRCh38)
11:76876659 (GRCh37)
Canonical SPDI:: NC_000011.10:77165612:G:A
Gene:: MYO7A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.77165613G>A, NC_000011.9:g.76876659G>A, NG_009086.2:g.42368G>A, NW_003871081.1:g.167249G>A

Select item 149047995717.

rs1490479957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:77178584 (GRCh38)
11:76889630 (GRCh37)
Canonical SPDI:: NC_000011.10:77178583:C:A
Gene:: MYO7A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.77178584C>A, NC_000011.9:g.76889630C>A, NG_009086.2:g.55339C>A, NW_003871081.1:g.180220C>A

Select item 149039286118.

rs1490392861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:77149797 (GRCh38)
11:76860843 (GRCh37)
Canonical SPDI:: NC_000011.10:77149796:C:T
Gene:: MYO7A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.77149797C>T, NC_000011.9:g.76860843C>T, NG_009086.2:g.26552C>T, NW_003871081.1:g.151433C>T

Select item 149037727419.

rs1490377274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:77150795 (GRCh38)
11:76861841 (GRCh37)
Canonical SPDI:: NC_000011.10:77150794:G:A
Gene:: MYO7A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.77150795G>A, NC_000011.9:g.76861841G>A, NG_009086.2:g.27550G>A, NW_003871081.1:g.152431G>A

Select item 149035442220.

rs1490354422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:77164505 (GRCh38)
11:76875551 (GRCh37)
Canonical SPDI:: NC_000011.10:77164504:G:A
Gene:: MYO7A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.77164505G>A, NC_000011.9:g.76875551G>A, NG_009086.2:g.41260G>A, NW_003871081.1:g.166141G>A

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