SNP Links for Gene (Select 8490) - SNP

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Select item 14915833961.

rs1491583396 has merged into rs66595263 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:163290664 (GRCh38)
1:163260454 (GRCh37)
Canonical SPDI:: NC_000001.11:163290653:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:163290653:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:163290653:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:163290653:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:163290653:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:163290653:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:163290653:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:163290653:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:163290653:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:163290653:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:163290653:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:163290653:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RGS5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.116/447 (ALSPAC)
-=0.3019/1512 (1000Genomes)
HGVS:: NC_000001.11:g.163290664_163290670del, NC_000001.11:g.163290666_163290670del, NC_000001.11:g.163290667_163290670del, NC_000001.11:g.163290668_163290670del, NC_000001.11:g.163290669_163290670del, NC_000001.11:g.163290670del, NC_000001.11:g.163290670dup, NC_000001.11:g.163290669_163290670dup, NC_000001.11:g.163290668_163290670dup, NC_000001.11:g.163290667_163290670dup, NC_000001.11:g.163290665_163290670dup, NC_000001.11:g.163290659_163290670dup, NC_000001.10:g.163260454_163260460del, NC_000001.10:g.163260456_163260460del, NC_000001.10:g.163260457_163260460del, NC_000001.10:g.163260458_163260460del, NC_000001.10:g.163260459_163260460del, NC_000001.10:g.163260460del, NC_000001.10:g.163260460dup, NC_000001.10:g.163260459_163260460dup, NC_000001.10:g.163260458_163260460dup, NC_000001.10:g.163260457_163260460dup, NC_000001.10:g.163260455_163260460dup, NC_000001.10:g.163260449_163260460dup, NG_027731.2:g.36132_36138del, NG_027731.2:g.36134_36138del, NG_027731.2:g.36135_36138del, NG_027731.2:g.36136_36138del, NG_027731.2:g.36137_36138del, NG_027731.2:g.36138del, NG_027731.2:g.36138dup, NG_027731.2:g.36137_36138dup, NG_027731.2:g.36136_36138dup, NG_027731.2:g.36135_36138dup, NG_027731.2:g.36133_36138dup, NG_027731.2:g.36127_36138dup

Select item 14915660912.

rs1491566091 has merged into rs534448527 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:163147927 (GRCh38)
1:163117717 (GRCh37)
Canonical SPDI:: NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:163147918:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RGS5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.01387/375 (TOMMO)
TTTTTTTTTTTTTTT=0.475/19 (GENOME_DK)
HGVS:: NC_000001.11:g.163147927_163147940del, NC_000001.11:g.163147928_163147940del, NC_000001.11:g.163147930_163147940del, NC_000001.11:g.163147931_163147940del, NC_000001.11:g.163147934_163147940del, NC_000001.11:g.163147935_163147940del, NC_000001.11:g.163147936_163147940del, NC_000001.11:g.163147937_163147940del, NC_000001.11:g.163147938_163147940del, NC_000001.11:g.163147939_163147940del, NC_000001.11:g.163147940del, NC_000001.11:g.163147940dup, NC_000001.11:g.163147939_163147940dup, NC_000001.11:g.163147936_163147940dup, NC_000001.11:g.163147934_163147940dup, NC_000001.11:g.163147933_163147940dup, NC_000001.11:g.163147932_163147940dup, NC_000001.11:g.163147931_163147940dup, NC_000001.11:g.163147930_163147940dup, NC_000001.11:g.163147929_163147940dup, NC_000001.11:g.163147928_163147940dup, NC_000001.11:g.163147927_163147940dup, NC_000001.11:g.163147926_163147940dup, NC_000001.11:g.163147925_163147940dup, NC_000001.11:g.163147924_163147940dup, NC_000001.11:g.163147940_163147941insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.163147940_163147941insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.163147940_163147941insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.163117717_163117730del, NC_000001.10:g.163117718_163117730del, NC_000001.10:g.163117720_163117730del, NC_000001.10:g.163117721_163117730del, NC_000001.10:g.163117724_163117730del, NC_000001.10:g.163117725_163117730del, NC_000001.10:g.163117726_163117730del, NC_000001.10:g.163117727_163117730del, NC_000001.10:g.163117728_163117730del, NC_000001.10:g.163117729_163117730del, NC_000001.10:g.163117730del, NC_000001.10:g.163117730dup, NC_000001.10:g.163117729_163117730dup, NC_000001.10:g.163117726_163117730dup, NC_000001.10:g.163117724_163117730dup, NC_000001.10:g.163117723_163117730dup, NC_000001.10:g.163117722_163117730dup, NC_000001.10:g.163117721_163117730dup, NC_000001.10:g.163117720_163117730dup, NC_000001.10:g.163117719_163117730dup, NC_000001.10:g.163117718_163117730dup, NC_000001.10:g.163117717_163117730dup, NC_000001.10:g.163117716_163117730dup, NC_000001.10:g.163117715_163117730dup, NC_000001.10:g.163117714_163117730dup, NC_000001.10:g.163117730_163117731insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.163117730_163117731insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.163117730_163117731insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027731.2:g.178860_178873del, NG_027731.2:g.178861_178873del, NG_027731.2:g.178863_178873del, NG_027731.2:g.178864_178873del, NG_027731.2:g.178867_178873del, NG_027731.2:g.178868_178873del, NG_027731.2:g.178869_178873del, NG_027731.2:g.178870_178873del, NG_027731.2:g.178871_178873del, NG_027731.2:g.178872_178873del, NG_027731.2:g.178873del, NG_027731.2:g.178873dup, NG_027731.2:g.178872_178873dup, NG_027731.2:g.178869_178873dup, NG_027731.2:g.178867_178873dup, NG_027731.2:g.178866_178873dup, NG_027731.2:g.178865_178873dup, NG_027731.2:g.178864_178873dup, NG_027731.2:g.178863_178873dup, NG_027731.2:g.178862_178873dup, NG_027731.2:g.178861_178873dup, NG_027731.2:g.178860_178873dup, NG_027731.2:g.178859_178873dup, NG_027731.2:g.178858_178873dup, NG_027731.2:g.178857_178873dup, NG_027731.2:g.178873_178874insAAAAAAAAAAAAAAAAAAAAAAA, NG_027731.2:g.178873_178874insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_027731.2:g.178873_178874insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915604473.

rs1491560447 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:163307619 (GRCh38)
1:163277409 (GRCh37)
Canonical SPDI:: NC_000001.11:163307618:GT:
Gene:: RGS5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0011/5 (ALFA)
-=0.0011/5 (Estonian)
HGVS:: NC_000001.11:g.163307619_163307620del, NC_000001.10:g.163277409_163277410del, NG_027731.2:g.19172_19173del

Select item 14915474134.

rs1491547413 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA [Show Flanks]
Chromosome:: 1:163243644 (GRCh38)
1:163213435 (GRCh37)
Canonical SPDI:: NC_000001.11:163243644:AA:AAGAA
Gene:: RGS5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: AAG=0.00004/1 (GnomAD)
HGVS:: NC_000001.11:g.163243646_163243647insGAA, NC_000001.10:g.163213436_163213437insGAA, NG_027731.2:g.83147_83148insCTT

Select item 14915434965.

rs1491543496 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:163205344 (GRCh38)
1:163175134 (GRCh37)
Canonical SPDI:: NC_000001.11:163205343:GT:
Gene:: RGS5 (Varview), RGS5-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00007/2 (TOMMO)
HGVS:: NC_000001.11:g.163205344_163205345del, NC_000001.10:g.163175134_163175135del, NG_027731.2:g.121447_121448del

Select item 14915272486.

rs1491527248 has merged into rs55848330 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:163208359 (GRCh38)
1:163178149 (GRCh37)
Canonical SPDI:: NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:163208347:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RGS5 (Varview), RGS5-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000001.11:g.163208359_163208371del, NC_000001.11:g.163208360_163208371del, NC_000001.11:g.163208361_163208371del, NC_000001.11:g.163208362_163208371del, NC_000001.11:g.163208363_163208371del, NC_000001.11:g.163208365_163208371del, NC_000001.11:g.163208366_163208371del, NC_000001.11:g.163208367_163208371del, NC_000001.11:g.163208368_163208371del, NC_000001.11:g.163208369_163208371del, NC_000001.11:g.163208370_163208371del, NC_000001.11:g.163208371del, NC_000001.11:g.163208371dup, NC_000001.11:g.163208370_163208371dup, NC_000001.11:g.163208369_163208371dup, NC_000001.11:g.163208368_163208371dup, NC_000001.11:g.163208367_163208371dup, NC_000001.11:g.163208366_163208371dup, NC_000001.11:g.163208365_163208371dup, NC_000001.11:g.163208359_163208371dup, NC_000001.10:g.163178149_163178161del, NC_000001.10:g.163178150_163178161del, NC_000001.10:g.163178151_163178161del, NC_000001.10:g.163178152_163178161del, NC_000001.10:g.163178153_163178161del, NC_000001.10:g.163178155_163178161del, NC_000001.10:g.163178156_163178161del, NC_000001.10:g.163178157_163178161del, NC_000001.10:g.163178158_163178161del, NC_000001.10:g.163178159_163178161del, NC_000001.10:g.163178160_163178161del, NC_000001.10:g.163178161del, NC_000001.10:g.163178161dup, NC_000001.10:g.163178160_163178161dup, NC_000001.10:g.163178159_163178161dup, NC_000001.10:g.163178158_163178161dup, NC_000001.10:g.163178157_163178161dup, NC_000001.10:g.163178156_163178161dup, NC_000001.10:g.163178155_163178161dup, NC_000001.10:g.163178149_163178161dup, NG_027731.2:g.118432_118444del, NG_027731.2:g.118433_118444del, NG_027731.2:g.118434_118444del, NG_027731.2:g.118435_118444del, NG_027731.2:g.118436_118444del, NG_027731.2:g.118438_118444del, NG_027731.2:g.118439_118444del, NG_027731.2:g.118440_118444del, NG_027731.2:g.118441_118444del, NG_027731.2:g.118442_118444del, NG_027731.2:g.118443_118444del, NG_027731.2:g.118444del, NG_027731.2:g.118444dup, NG_027731.2:g.118443_118444dup, NG_027731.2:g.118442_118444dup, NG_027731.2:g.118441_118444dup, NG_027731.2:g.118440_118444dup, NG_027731.2:g.118439_118444dup, NG_027731.2:g.118438_118444dup, NG_027731.2:g.118432_118444dup

Select item 14915221307.

rs1491522130 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTTTTTT [Show Flanks]
Chromosome:: 1:163180687 (GRCh38)
1:163150478 (GRCh37)
Canonical SPDI:: NC_000001.11:163180687:TTTTTTTTT:TTTTTTTTTGTTTTTTTTT
Gene:: RGS5 (Varview), RGS5-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTGTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTG=0.00025/4 (TOMMO)
TTTTTTTTTG=0.00128/78 (GnomAD)
HGVS:: NC_000001.11:g.163180688_163180696T[9]GTTTTTTTTT[1], NC_000001.10:g.163150478_163150486T[9]GTTTTTTTTT[1], NG_027731.2:g.146096_146104A[9]CAAAAAAAAA[1]

Select item 14914288138.

rs1491428813 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:163290653 (GRCh38)
1:163260443 (GRCh37)
Canonical SPDI:: NC_000001.11:163290652:CA:
Gene:: RGS5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.163290653_163290654del, NC_000001.10:g.163260443_163260444del, NG_027731.2:g.36138_36139del

Select item 14914170769.

rs1491417076 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:163264554 (GRCh38)
1:163234344 (GRCh37)
Canonical SPDI:: NC_000001.11:163264552:AGA:A
Gene:: RGS5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000071/10 (GnomAD)
-=0.000076/20 (TOPMED)
-=0.000468/3 (1000Genomes)
HGVS:: NC_000001.11:g.163264554_163264555del, NC_000001.10:g.163234344_163234345del, NG_027731.2:g.62238_62239del

Select item 149141203710.

rs1491412037 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:163208347 (GRCh38)
1:163178137 (GRCh37)
Canonical SPDI:: NC_000001.11:163208346:CA:
Gene:: RGS5 (Varview), RGS5-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000001.11:g.163208347_163208348del, NC_000001.10:g.163178137_163178138del, NG_027731.2:g.118444_118445del

Select item 149138127811.

rs1491381278 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 1:163208348 (GRCh38)
1:163178139 (GRCh37)
Canonical SPDI:: NC_000001.11:163208348::C,NC_000001.11:163208348::G
Gene:: RGS5 (Varview), RGS5-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.163208348_163208349insC, NC_000001.11:g.163208348_163208349insG, NC_000001.10:g.163178138_163178139insC, NC_000001.10:g.163178138_163178139insG, NG_027731.2:g.118443_118444insG, NG_027731.2:g.118443_118444insC

Select item 149132380012.

rs1491323800 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:163186578 (GRCh38)
1:163156368 (GRCh37)
Canonical SPDI:: NC_000001.11:163186577:CA:
Gene:: RGS5 (Varview), RGS5-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00034/4 (ALFA)
-=0.00116/18 (TOMMO)
HGVS:: NC_000001.11:g.163186578_163186579del, NC_000001.10:g.163156368_163156369del, NG_027731.2:g.140213_140214del

Select item 149130726213.

rs1491307262 has merged into rs767404750 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 1:163166490 (GRCh38)
1:163136280 (GRCh37)
Canonical SPDI:: NC_000001.11:163166480:AGAGAGAGAGAGA:AGAGAGAGA,NC_000001.11:163166480:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000001.11:163166480:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA
Gene:: RGS5 (Varview), RGS5-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.163166482GA[4], NC_000001.11:g.163166482GA[5], NC_000001.11:g.163166482GA[7], NC_000001.10:g.163136272GA[4], NC_000001.10:g.163136272GA[5], NC_000001.10:g.163136272GA[7], NG_027731.2:g.160300CT[4], NG_027731.2:g.160300CT[5], NG_027731.2:g.160300CT[7]

Select item 149127024614.

rs1491270246 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:163264553 (GRCh38)
1:163234344 (GRCh37)
Canonical SPDI:: NC_000001.11:163264553:G:GG
Gene:: RGS5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.163264554dup, NC_000001.10:g.163234344dup, NG_027731.2:g.62238dup

Select item 149124492115.

rs1491244921 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAAAAAA [Show Flanks]
Chromosome:: 1:163165917 (GRCh38)
1:163135708 (GRCh37)
Canonical SPDI:: NC_000001.11:163165917:AAAAAAAA:AAAAAAAACAAAAAAAA
Gene:: RGS5 (Varview), RGS5-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAACAAAAAAAA=0./0 (ALFA)
AAAAAAAAC=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.163165918_163165925A[8]CAAAAAAAA[1], NC_000001.10:g.163135708_163135715A[8]CAAAAAAAA[1], NG_027731.2:g.160867_160874T[8]GTTTTTTTT[1]

Select item 149123345916.

rs1491233459 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:163205345 (GRCh38)
1:163175135 (GRCh37)
Canonical SPDI:: NC_000001.11:163205344:TA:
Gene:: RGS5 (Varview), RGS5-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000001.11:g.163205345_163205346del, NC_000001.10:g.163175135_163175136del, NG_027731.2:g.121446_121447del

Select item 149122365017.

rs1491223650 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:163310574 (GRCh38)
1:163280364 (GRCh37)
Canonical SPDI:: NC_000001.11:163310573:CA:
Gene:: RGS5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.163310574_163310575del, NC_000001.10:g.163280364_163280365del, NG_027731.2:g.16217_16218del

Select item 149121311118.

rs1491213111 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:163307619 (GRCh38)
1:163277410 (GRCh37)
Canonical SPDI:: NC_000001.11:163307619::A
Gene:: RGS5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.163307619_163307620insA, NC_000001.10:g.163277409_163277410insA, NG_027731.2:g.19172_19173insT

Select item 149120633619.

rs1491206336 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:163205344 (GRCh38)
1:163175135 (GRCh37)
Canonical SPDI:: NC_000001.11:163205344:T:TT
Gene:: RGS5 (Varview), RGS5-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.00009/2 (GnomAD)
HGVS:: NC_000001.11:g.163205345dup, NC_000001.10:g.163175135dup, NG_027731.2:g.121447dup

Select item 149119803020.

rs1491198030 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:163188951 (GRCh38)
1:163158741 (GRCh37)
Canonical SPDI:: NC_000001.11:163188950:CA:
Gene:: RGS5 (Varview), RGS5-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
-=0.00161/45 (TOMMO)
HGVS:: NC_000001.11:g.163188951_163188952del, NC_000001.10:g.163158741_163158742del, NG_027731.2:g.137840_137841del

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