SNP Links for Gene (Select 728194) - SNP

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Select item 14915751211.

rs1491575121 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 7:6774755 (GRCh38)
7:6814386 (GRCh37)
Canonical SPDI:: NC_000007.14:6774753:TGT:T
Gene:: RSPH10B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00034/4 (ALFA)
-=0.00049/7 (TOMMO)
-=0.00056/47 (GnomAD)
HGVS:: NC_000007.14:g.6774755_6774756del, NC_000007.13:g.6814386_6814387del

Select item 14915567512.

rs1491556751 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA [Show Flanks]
Chromosome:: 7:6758970 (GRCh38)
7:6798602 (GRCh37)
Canonical SPDI:: NC_000007.14:6758970::A,NC_000007.14:6758970::ATA,NC_000007.14:6758970::ATATA,NC_000007.14:6758970::ATATATA
Gene:: RSPH10B2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.0881/49 (NorthernSweden)
HGVS:: NC_000007.14:g.6758970_6758971insA, NC_000007.14:g.6758970_6758971insATA, NC_000007.14:g.6758970_6758971insATATA, NC_000007.14:g.6758970_6758971insATATATA, NC_000007.13:g.6798601_6798602insA, NC_000007.13:g.6798601_6798602insATA, NC_000007.13:g.6798601_6798602insATATA, NC_000007.13:g.6798601_6798602insATATATA

Select item 14915234033.

rs1491523403 has merged into rs1366791013 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 7:6761944 (GRCh38)
7:6801575 (GRCh37)
Canonical SPDI:: NC_000007.14:6761943:GGGGGGG:GGGGGG,NC_000007.14:6761943:GGGGGGG:GGGGGGGG
Gene:: RSPH10B2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
HGVS:: NC_000007.14:g.6761950del, NC_000007.14:g.6761950dup, NC_000007.13:g.6801581del, NC_000007.13:g.6801581dup

Select item 14915110604.

rs1491511060 has merged into rs201720427 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 7:6791010 (GRCh38)
7:6830641 (GRCh37)
Canonical SPDI:: NC_000007.14:6790999:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:6790999:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:6790999:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:6790999:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:6790999:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: RSPH10B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.231/134 (NorthernSweden)
HGVS:: NC_000007.14:g.6791010_6791012del, NC_000007.14:g.6791011_6791012del, NC_000007.14:g.6791012del, NC_000007.14:g.6791012dup, NC_000007.14:g.6791011_6791012dup, NC_000007.13:g.6830641_6830643del, NC_000007.13:g.6830642_6830643del, NC_000007.13:g.6830643del, NC_000007.13:g.6830643dup, NC_000007.13:g.6830642_6830643dup

Select item 14914620645.

rs1491462064 has merged into rs369892864 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 7:6758978 (GRCh38)
7:6798609 (GRCh37)
Canonical SPDI:: NC_000007.14:6758969:TTTTTTTTTTTT:TTTTTTTT,NC_000007.14:6758969:TTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:6758969:TTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:6758969:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:6758969:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:6758969:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:6758969:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:6758969:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:6758969:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:6758969:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: RSPH10B2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TT=0.22727/5 (GENOME_DK)
HGVS:: NC_000007.14:g.6758978_6758981del, NC_000007.14:g.6758979_6758981del, NC_000007.14:g.6758980_6758981del, NC_000007.14:g.6758981del, NC_000007.14:g.6758981dup, NC_000007.14:g.6758980_6758981dup, NC_000007.14:g.6758979_6758981dup, NC_000007.14:g.6758978_6758981dup, NC_000007.14:g.6758977_6758981dup, NC_000007.14:g.6758976_6758981dup, NC_000007.13:g.6798609_6798612del, NC_000007.13:g.6798610_6798612del, NC_000007.13:g.6798611_6798612del, NC_000007.13:g.6798612del, NC_000007.13:g.6798612dup, NC_000007.13:g.6798611_6798612dup, NC_000007.13:g.6798610_6798612dup, NC_000007.13:g.6798609_6798612dup, NC_000007.13:g.6798608_6798612dup, NC_000007.13:g.6798607_6798612dup

Select item 14914555206.

rs1491455520 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 7:6774756 (GRCh38)
7:6814388 (GRCh37)
Canonical SPDI:: NC_000007.14:6774756:T:TGT
Gene:: RSPH10B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.6774757_6774758insGT, NC_000007.13:g.6814388_6814389insGT

Select item 14914421307.

rs1491442130 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT [Show Flanks]
Chromosome:: 7:6783832 (GRCh38)
7:6823464 (GRCh37)
Canonical SPDI:: NC_000007.14:6783832:AT:ATTAT
Gene:: RSPH10B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATTAT=0.00194/23 (ALFA)
HGVS:: NC_000007.14:g.6783834_6783835insTAT, NC_000007.13:g.6823465_6823466insTAT

Select item 14914177868.

rs1491417786 [Homo sapiens]

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

Select item 14913831869.

rs1491383186 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:6774754 (GRCh38)
7:6814386 (GRCh37)
Canonical SPDI:: NC_000007.14:6774754:G:GG
Gene:: RSPH10B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.00006/5 (GnomAD)
HGVS:: NC_000007.14:g.6774755dup, NC_000007.13:g.6814386dup

Select item 149134825310.

rs1491348253 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 7:6781744 (GRCh38)
7:6821375 (GRCh37)
Canonical SPDI:: NC_000007.14:6781743:GT:
Gene:: RSPH10B2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.0013/2 (Korea1K)
HGVS:: NC_000007.14:g.6781744_6781745del, NC_000007.13:g.6821375_6821376del

Select item 149133155411.

rs1491331554 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:6790999 (GRCh38)
7:6830630 (GRCh37)
Canonical SPDI:: NC_000007.14:6790998:AT:
Gene:: RSPH10B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00018/15 (GnomAD)
-=0.00193/29 (TOMMO)
-=0.007/11 (Korea1K)
HGVS:: NC_000007.14:g.6790999_6791000del, NC_000007.13:g.6830630_6830631del

Select item 149130740412.

rs1491307404 has merged into rs1435209050 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 7:6781756 (GRCh38)
7:6821387 (GRCh37)
Canonical SPDI:: NC_000007.14:6781744:TATATATATATAT:TATATATATAT,NC_000007.14:6781744:TATATATATATAT:TATATATATATATAT
Gene:: RSPH10B2 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATAT=0./0 (ALFA)
TA=0.00004/1 (TOMMO)
HGVS:: NC_000007.14:g.6781746AT[5], NC_000007.14:g.6781746AT[7], NC_000007.13:g.6821377AT[5], NC_000007.13:g.6821377AT[7]

Select item 149130419713.

rs1491304197 has merged into rs1359670506 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:6774759 (GRCh38)
7:6814390 (GRCh37)
Canonical SPDI:: NC_000007.14:6774755:TTTTTTTTTTTTT:TTT,NC_000007.14:6774755:TTTTTTTTTTTTT:TTTTTTT,NC_000007.14:6774755:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:6774755:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:6774755:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:6774755:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:6774755:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:6774755:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:6774755:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:6774755:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:6774755:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:6774755:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RSPH10B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.6774759_6774768del, NC_000007.14:g.6774763_6774768del, NC_000007.14:g.6774766_6774768del, NC_000007.14:g.6774767_6774768del, NC_000007.14:g.6774768del, NC_000007.14:g.6774768dup, NC_000007.14:g.6774767_6774768dup, NC_000007.14:g.6774766_6774768dup, NC_000007.14:g.6774765_6774768dup, NC_000007.14:g.6774764_6774768dup, NC_000007.14:g.6774763_6774768dup, NC_000007.14:g.6774768_6774769insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.6814390_6814399del, NC_000007.13:g.6814394_6814399del, NC_000007.13:g.6814397_6814399del, NC_000007.13:g.6814398_6814399del, NC_000007.13:g.6814399del, NC_000007.13:g.6814399dup, NC_000007.13:g.6814398_6814399dup, NC_000007.13:g.6814397_6814399dup, NC_000007.13:g.6814396_6814399dup, NC_000007.13:g.6814395_6814399dup, NC_000007.13:g.6814394_6814399dup, NC_000007.13:g.6814399_6814400insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149110149914.

rs1491101499 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:6761943 (GRCh38)
7:6801574 (GRCh37)
Canonical SPDI:: NC_000007.14:6761942:AG:
Gene:: RSPH10B2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.6761943_6761944del, NC_000007.13:g.6801574_6801575del

Select item 149102341315.

rs1491023413 has merged into rs201650381 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 7:6795936 (GRCh38)
7:6835567 (GRCh37)
Canonical SPDI:: NC_000007.14:6795932:AAAAAAAAAAA:AAA,NC_000007.14:6795932:AAAAAAAAAAA:AAAAAA,NC_000007.14:6795932:AAAAAAAAAAA:AAAAAAAA,NC_000007.14:6795932:AAAAAAAAAAA:AAAAAAAAA,NC_000007.14:6795932:AAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:6795932:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:6795932:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:6795932:AAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: RSPH10B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.372/1863 (1000Genomes)
HGVS:: NC_000007.14:g.6795936_6795943del, NC_000007.14:g.6795939_6795943del, NC_000007.14:g.6795941_6795943del, NC_000007.14:g.6795942_6795943del, NC_000007.14:g.6795943del, NC_000007.14:g.6795943dup, NC_000007.14:g.6795942_6795943dup, NC_000007.14:g.6795941_6795943dup, NC_000007.13:g.6835567_6835574del, NC_000007.13:g.6835570_6835574del, NC_000007.13:g.6835572_6835574del, NC_000007.13:g.6835573_6835574del, NC_000007.13:g.6835574del, NC_000007.13:g.6835574dup, NC_000007.13:g.6835573_6835574dup, NC_000007.13:g.6835572_6835574dup

Select item 149099183216.

rs1490991832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:6785280 (GRCh38)
7:6824911 (GRCh37)
Canonical SPDI:: NC_000007.14:6785279:G:C
Gene:: RSPH10B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.6785280G>C, NC_000007.13:g.6824911G>C

Select item 149090674017.

rs1490906740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:6770503 (GRCh38)
7:6810134 (GRCh37)
Canonical SPDI:: NC_000007.14:6770502:C:A,NC_000007.14:6770502:C:G,NC_000007.14:6770502:C:T
Gene:: RSPH10B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000007.14:g.6770503C>A, NC_000007.14:g.6770503C>G, NC_000007.14:g.6770503C>T, NC_000007.13:g.6810134C>A, NC_000007.13:g.6810134C>G, NC_000007.13:g.6810134C>T

Select item 149080707218.

rs1490807072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:6756100 (GRCh38)
7:6795731 (GRCh37)
Canonical SPDI:: NC_000007.14:6756099:C:G,NC_000007.14:6756099:C:T
Gene:: RSPH10B2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0./0 (GnomAD)
HGVS:: NC_000007.14:g.6756100C>G, NC_000007.14:g.6756100C>T, NC_000007.13:g.6795731C>G, NC_000007.13:g.6795731C>T

Select item 149078482119.

rs1490784821 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 149076401020.

rs1490764010 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:6774988 (GRCh38)
7:6814619 (GRCh37)
Canonical SPDI:: NC_000007.14:6774987:A:T
Gene:: RSPH10B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000018/2 (GnomAD)
HGVS:: NC_000007.14:g.6774988A>T, NC_000007.13:g.6814619A>T

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