SNP Links for Gene (Select 9628) - SNP

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Select item 14915893231.

rs1491589323 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 14:72011583 (GRCh38)
14:72478301 (GRCh37)
Canonical SPDI:: NC_000014.9:72011583::T
Gene:: RGS6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.0406/368 (GnomAD)
HGVS:: NC_000014.9:g.72011583_72011584insT, NC_000014.8:g.72478300_72478301insT, NG_029236.1:g.84484_84485insT

Select item 14915878392.

rs1491587839 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 14:72545924 (GRCh38)
14:73012632 (GRCh37)
Canonical SPDI:: NC_000014.9:72545923:TC:
Gene:: RGS6 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000014.9:g.72545924_72545925del, NC_000014.8:g.73012632_73012633del, NG_029236.1:g.618816_618817del

Select item 14915596363.

rs1491559636 has merged into rs58717636 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:72342737 (GRCh38)
14:72809445 (GRCh37)
Canonical SPDI:: NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72342725:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RGS6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.72342737_72342750del, NC_000014.9:g.72342738_72342750del, NC_000014.9:g.72342739_72342750del, NC_000014.9:g.72342740_72342750del, NC_000014.9:g.72342742_72342750del, NC_000014.9:g.72342743_72342750del, NC_000014.9:g.72342744_72342750del, NC_000014.9:g.72342745_72342750del, NC_000014.9:g.72342746_72342750del, NC_000014.9:g.72342747_72342750del, NC_000014.9:g.72342748_72342750del, NC_000014.9:g.72342749_72342750del, NC_000014.9:g.72342750del, NC_000014.9:g.72342750dup, NC_000014.9:g.72342749_72342750dup, NC_000014.9:g.72342748_72342750dup, NC_000014.9:g.72342747_72342750dup, NC_000014.9:g.72342746_72342750dup, NC_000014.9:g.72342745_72342750dup, NC_000014.9:g.72342731_72342750dup, NC_000014.9:g.72342750_72342751insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.72809445_72809458del, NC_000014.8:g.72809446_72809458del, NC_000014.8:g.72809447_72809458del, NC_000014.8:g.72809448_72809458del, NC_000014.8:g.72809450_72809458del, NC_000014.8:g.72809451_72809458del, NC_000014.8:g.72809452_72809458del, NC_000014.8:g.72809453_72809458del, NC_000014.8:g.72809454_72809458del, NC_000014.8:g.72809455_72809458del, NC_000014.8:g.72809456_72809458del, NC_000014.8:g.72809457_72809458del, NC_000014.8:g.72809458del, NC_000014.8:g.72809458dup, NC_000014.8:g.72809457_72809458dup, NC_000014.8:g.72809456_72809458dup, NC_000014.8:g.72809455_72809458dup, NC_000014.8:g.72809454_72809458dup, NC_000014.8:g.72809453_72809458dup, NC_000014.8:g.72809439_72809458dup, NC_000014.8:g.72809458_72809459insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029236.1:g.415629_415642del, NG_029236.1:g.415630_415642del, NG_029236.1:g.415631_415642del, NG_029236.1:g.415632_415642del, NG_029236.1:g.415634_415642del, NG_029236.1:g.415635_415642del, NG_029236.1:g.415636_415642del, NG_029236.1:g.415637_415642del, NG_029236.1:g.415638_415642del, NG_029236.1:g.415639_415642del, NG_029236.1:g.415640_415642del, NG_029236.1:g.415641_415642del, NG_029236.1:g.415642del, NG_029236.1:g.415642dup, NG_029236.1:g.415641_415642dup, NG_029236.1:g.415640_415642dup, NG_029236.1:g.415639_415642dup, NG_029236.1:g.415638_415642dup, NG_029236.1:g.415637_415642dup, NG_029236.1:g.415623_415642dup, NG_029236.1:g.415642_415643insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915593894.

rs1491559389 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 14:71931828 (GRCh38)
14:72398545 (GRCh37)
Canonical SPDI:: NC_000014.9:71931824:GAGAG:GAG
Gene:: RGS6 (Varview), LOC124903404 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000546/1 (Korea1K)
HGVS:: NC_000014.9:g.71931826AG[1], NC_000014.8:g.72398543AG[1], NG_029236.1:g.4727AG[1]

Select item 14915560415.

rs1491556041 has merged into rs11463702 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:71992031 (GRCh38)
14:72458748 (GRCh37)
Canonical SPDI:: NC_000014.9:71992022:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000014.9:71992022:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:71992022:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:71992022:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:71992022:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:71992022:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:71992022:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:71992022:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:71992022:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RGS6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0./0 (ALSPAC)
-=0./0 (TWINSUK)
-=0.247/1237 (1000Genomes)
HGVS:: NC_000014.9:g.71992031_71992038del, NC_000014.9:g.71992036_71992038del, NC_000014.9:g.71992037_71992038del, NC_000014.9:g.71992038del, NC_000014.9:g.71992038dup, NC_000014.9:g.71992037_71992038dup, NC_000014.9:g.71992036_71992038dup, NC_000014.9:g.71992034_71992038dup, NC_000014.9:g.71992026_71992038dup, NC_000014.8:g.72458748_72458755del, NC_000014.8:g.72458753_72458755del, NC_000014.8:g.72458754_72458755del, NC_000014.8:g.72458755del, NC_000014.8:g.72458755dup, NC_000014.8:g.72458754_72458755dup, NC_000014.8:g.72458753_72458755dup, NC_000014.8:g.72458751_72458755dup, NC_000014.8:g.72458743_72458755dup, NG_029236.1:g.64932_64939del, NG_029236.1:g.64937_64939del, NG_029236.1:g.64938_64939del, NG_029236.1:g.64939del, NG_029236.1:g.64939dup, NG_029236.1:g.64938_64939dup, NG_029236.1:g.64937_64939dup, NG_029236.1:g.64935_64939dup, NG_029236.1:g.64927_64939dup

Select item 14915494656.

rs1491549465 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,ATTAT,ATTATTAT,ATTATTATTAT,ATTATTATTATTAT,ATTGT [Show Flanks]
Chromosome:: 14:72297430 (GRCh38)
14:72764139 (GRCh37)
Canonical SPDI:: NC_000014.9:72297430:T:TAT,NC_000014.9:72297430:T:TATTAT,NC_000014.9:72297430:T:TATTATTAT,NC_000014.9:72297430:T:TATTATTATTAT,NC_000014.9:72297430:T:TATTATTATTATTAT,NC_000014.9:72297430:T:TATTGT
Gene:: RGS6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTAT=0./0 (ALFA)
HGVS:: NC_000014.9:g.72297431_72297432insAT, NC_000014.9:g.72297431_72297432insATTAT, NC_000014.9:g.72297431_72297432insATTATTAT, NC_000014.9:g.72297431_72297432insATTATTATTAT, NC_000014.9:g.72297431_72297432insATTATTATTATTAT, NC_000014.9:g.72297431_72297432insATTGT, NC_000014.8:g.72764139_72764140insAT, NC_000014.8:g.72764139_72764140insATTAT, NC_000014.8:g.72764139_72764140insATTATTAT, NC_000014.8:g.72764139_72764140insATTATTATTAT, NC_000014.8:g.72764139_72764140insATTATTATTATTAT, NC_000014.8:g.72764139_72764140insATTGT, NG_029236.1:g.370323_370324insAT, NG_029236.1:g.370323_370324insATTAT, NG_029236.1:g.370323_370324insATTATTAT, NG_029236.1:g.370323_370324insATTATTATTAT, NG_029236.1:g.370323_370324insATTATTATTATTAT, NG_029236.1:g.370323_370324insATTGT

Select item 14915448827.

rs1491544882 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:72259910 (GRCh38)
14:72726618 (GRCh37)
Canonical SPDI:: NC_000014.9:72259909:CA:
Gene:: RGS6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00059/7 (ALFA)
HGVS:: NC_000014.9:g.72259910_72259911del, NC_000014.8:g.72726618_72726619del, NG_029236.1:g.332802_332803del

Select item 14915397028.

rs1491539702 has merged into rs59321921 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 14:72613010 (GRCh38)
14:73079718 (GRCh37)
Canonical SPDI:: NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:72612993:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: DPF3 (Varview), RGS6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000014.9:g.72612994GT[8], NC_000014.9:g.72612994GT[9], NC_000014.9:g.72612994GT[10], NC_000014.9:g.72612994GT[11], NC_000014.9:g.72612994GT[12], NC_000014.9:g.72612994GT[13], NC_000014.9:g.72612994GT[14], NC_000014.9:g.72612994GT[15], NC_000014.9:g.72612994GT[16], NC_000014.9:g.72612994GT[17], NC_000014.9:g.72612994GT[18], NC_000014.9:g.72612994GT[20], NC_000014.9:g.72612994GT[21], NC_000014.9:g.72612994GT[22], NC_000014.9:g.72612994GT[23], NC_000014.9:g.72612994GT[24], NC_000014.9:g.72612994GT[25], NC_000014.9:g.72612994GT[26], NC_000014.9:g.72612994GT[27], NC_000014.9:g.72612994GT[29], NC_000014.8:g.73079702GT[8], NC_000014.8:g.73079702GT[9], NC_000014.8:g.73079702GT[10], NC_000014.8:g.73079702GT[11], NC_000014.8:g.73079702GT[12], NC_000014.8:g.73079702GT[13], NC_000014.8:g.73079702GT[14], NC_000014.8:g.73079702GT[15], NC_000014.8:g.73079702GT[16], NC_000014.8:g.73079702GT[17], NC_000014.8:g.73079702GT[18], NC_000014.8:g.73079702GT[20], NC_000014.8:g.73079702GT[21], NC_000014.8:g.73079702GT[22], NC_000014.8:g.73079702GT[23], NC_000014.8:g.73079702GT[24], NC_000014.8:g.73079702GT[25], NC_000014.8:g.73079702GT[26], NC_000014.8:g.73079702GT[27], NC_000014.8:g.73079702GT[29], NM_001280542.3:c.*6266AC[8], NM_001280542.3:c.*6266AC[9], NM_001280542.3:c.*6266AC[10], NM_001280542.3:c.*6266AC[11], NM_001280542.3:c.*6266AC[12], NM_001280542.3:c.*6266AC[13], NM_001280542.3:c.*6266AC[14], NM_001280542.3:c.*6266AC[15], NM_001280542.3:c.*6266AC[16], NM_001280542.3:c.*6266AC[17], NM_001280542.3:c.*6266AC[18], NM_001280542.3:c.*6266AC[20], NM_001280542.3:c.*6266AC[21], NM_001280542.3:c.*6266AC[22], NM_001280542.3:c.*6266AC[23], NM_001280542.3:c.*6266AC[24], NM_001280542.3:c.*6266AC[25], NM_001280542.3:c.*6266AC[26], NM_001280542.3:c.*6266AC[27], NM_001280542.3:c.*6266AC[29]

Select item 14915282739.

rs1491528273 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 14:72200961 (GRCh38)
14:72667669 (GRCh37)
Canonical SPDI:: NC_000014.9:72200960:TA:
Gene:: RGS6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000014.9:g.72200961_72200962del, NC_000014.8:g.72667669_72667670del, NG_029236.1:g.273853_273854del

Select item 149152729310.

rs1491527293 has merged into rs34090238 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT [Show Flanks]
Chromosome:: 14:72286523 (GRCh38)
14:72753231 (GRCh37)
Canonical SPDI:: NC_000014.9:72286522:TTTTTTTTTT:TTTTTTTTT,NC_000014.9:72286522:TTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:72286522:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: RGS6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.0041/38 (ALFA)
-=0.15/6 (GENOME_DK)
-=0.1544/518 (1000Genomes)
-=0.2511/931 (TWINSUK)
-=0.2636/1016 (ALSPAC)
-=0.2969/1308 (Estonian)
-=0.31/186 (NorthernSweden)
HGVS:: NC_000014.9:g.72286532del, NC_000014.9:g.72286532dup, NC_000014.9:g.72286531_72286532dup, NC_000014.8:g.72753240del, NC_000014.8:g.72753240dup, NC_000014.8:g.72753239_72753240dup, NG_029236.1:g.359424del, NG_029236.1:g.359424dup, NG_029236.1:g.359423_359424dup

Select item 149152469211.

rs1491524692 has merged into rs35453428 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:72163893 (GRCh38)
14:72630604 (GRCh37)
Canonical SPDI:: NC_000014.9:72163882:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:72163882:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:72163882:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:72163882:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:72163882:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:72163882:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:72163882:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:72163882:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:72163882:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:72163882:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72163882:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72163882:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RGS6 (Varview), LOC124903343 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.2941/1473 (1000Genomes)
HGVS:: NC_000014.9:g.72163893_72163899del, NC_000014.9:g.72163895_72163899del, NC_000014.9:g.72163896_72163899del, NC_000014.9:g.72163897_72163899del, NC_000014.9:g.72163898_72163899del, NC_000014.9:g.72163899del, NC_000014.9:g.72163899dup, NC_000014.9:g.72163898_72163899dup, NC_000014.9:g.72163897_72163899dup, NC_000014.9:g.72163896_72163899dup, NC_000014.9:g.72163893_72163899dup, NC_000014.9:g.72163891_72163899dup, NC_000014.8:g.72630604_72630610del, NC_000014.8:g.72630606_72630610del, NC_000014.8:g.72630607_72630610del, NC_000014.8:g.72630608_72630610del, NC_000014.8:g.72630609_72630610del, NC_000014.8:g.72630610del, NC_000014.8:g.72630610dup, NC_000014.8:g.72630609_72630610dup, NC_000014.8:g.72630608_72630610dup, NC_000014.8:g.72630607_72630610dup, NC_000014.8:g.72630604_72630610dup, NC_000014.8:g.72630602_72630610dup, NG_029236.1:g.236788_236794del, NG_029236.1:g.236790_236794del, NG_029236.1:g.236791_236794del, NG_029236.1:g.236792_236794del, NG_029236.1:g.236793_236794del, NG_029236.1:g.236794del, NG_029236.1:g.236794dup, NG_029236.1:g.236793_236794dup, NG_029236.1:g.236792_236794dup, NG_029236.1:g.236791_236794dup, NG_029236.1:g.236788_236794dup, NG_029236.1:g.236786_236794dup

Select item 149151859112.

rs1491518591 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 14:72138474 (GRCh38)
14:72605191 (GRCh37)
Canonical SPDI:: NC_000014.9:72138473:TA:
Gene:: RGS6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000014.9:g.72138474_72138475del, NC_000014.8:g.72605191_72605192del, NG_029236.1:g.211375_211376del

Select item 149150718813.

rs1491507188 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTT [Show Flanks]
Chromosome:: 14:72599394 (GRCh38)
14:73066103 (GRCh37)
Canonical SPDI:: NC_000014.9:72599394:TTT:TTTGTTT
Gene:: RGS6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTGTTT=0.00202/24 (ALFA)
TTTG=0.00232/30 (TOMMO)
HGVS:: NC_000014.9:g.72599397_72599398insGTTT, NC_000014.8:g.73066105_73066106insGTTT

Select item 149150291314.

rs1491502913 has merged into rs57302818 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:72437348 (GRCh38)
14:72904056 (GRCh37)
Canonical SPDI:: NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72437340:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RGS6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAA=0./0 (GENOME_DK)
AAAAAAAAAAAAAA=0.2167/1085 (1000Genomes)
HGVS:: NC_000014.9:g.72437348_72437362del, NC_000014.9:g.72437349_72437362del, NC_000014.9:g.72437350_72437362del, NC_000014.9:g.72437351_72437362del, NC_000014.9:g.72437353_72437362del, NC_000014.9:g.72437354_72437362del, NC_000014.9:g.72437355_72437362del, NC_000014.9:g.72437356_72437362del, NC_000014.9:g.72437358_72437362del, NC_000014.9:g.72437359_72437362del, NC_000014.9:g.72437360_72437362del, NC_000014.9:g.72437361_72437362del, NC_000014.9:g.72437362del, NC_000014.9:g.72437362dup, NC_000014.9:g.72437361_72437362dup, NC_000014.9:g.72437360_72437362dup, NC_000014.9:g.72437359_72437362dup, NC_000014.9:g.72437358_72437362dup, NC_000014.8:g.72904056_72904070del, NC_000014.8:g.72904057_72904070del, NC_000014.8:g.72904058_72904070del, NC_000014.8:g.72904059_72904070del, NC_000014.8:g.72904061_72904070del, NC_000014.8:g.72904062_72904070del, NC_000014.8:g.72904063_72904070del, NC_000014.8:g.72904064_72904070del, NC_000014.8:g.72904066_72904070del, NC_000014.8:g.72904067_72904070del, NC_000014.8:g.72904068_72904070del, NC_000014.8:g.72904069_72904070del, NC_000014.8:g.72904070del, NC_000014.8:g.72904070dup, NC_000014.8:g.72904069_72904070dup, NC_000014.8:g.72904068_72904070dup, NC_000014.8:g.72904067_72904070dup, NC_000014.8:g.72904066_72904070dup, NG_029236.1:g.510240_510254del, NG_029236.1:g.510241_510254del, NG_029236.1:g.510242_510254del, NG_029236.1:g.510243_510254del, NG_029236.1:g.510245_510254del, NG_029236.1:g.510246_510254del, NG_029236.1:g.510247_510254del, NG_029236.1:g.510248_510254del, NG_029236.1:g.510250_510254del, NG_029236.1:g.510251_510254del, NG_029236.1:g.510252_510254del, NG_029236.1:g.510253_510254del, NG_029236.1:g.510254del, NG_029236.1:g.510254dup, NG_029236.1:g.510253_510254dup, NG_029236.1:g.510252_510254dup, NG_029236.1:g.510251_510254dup, NG_029236.1:g.510250_510254dup

Select item 149150073515.

rs1491500735 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:71958020 (GRCh38)
14:72424737 (GRCh37)
Canonical SPDI:: NC_000014.9:71958019:CA:
Gene:: RGS6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000024/3 (GnomAD)
HGVS:: NC_000014.9:g.71958020_71958021del, NC_000014.8:g.72424737_72424738del, NG_029236.1:g.30921_30922del

Select item 149149858916.

rs1491498589 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:72416144 (GRCh38)
14:72882852 (GRCh37)
Canonical SPDI:: NC_000014.9:72416143:CA:
Gene:: RGS6 (Varview), LOC105370559 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000014.9:g.72416144_72416145del, NC_000014.8:g.72882852_72882853del, NG_029236.1:g.489036_489037del, XR_944019.3:n.421_422del

Select item 149148867317.

rs1491488673 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:72437340 (GRCh38)
14:72904048 (GRCh37)
Canonical SPDI:: NC_000014.9:72437339:CA:
Gene:: RGS6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00169/20 (ALFA)
-=0.00011/4 (GnomAD)
-=0.00351/98 (TOMMO)
HGVS:: NC_000014.9:g.72437340_72437341del, NC_000014.8:g.72904048_72904049del, NG_029236.1:g.510232_510233del

Select item 149148376318.

rs1491483763 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:72090112 (GRCh38)
14:72556829 (GRCh37)
Canonical SPDI:: NC_000014.9:72090111:CA:
Gene:: RGS6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000014.9:g.72090112_72090113del, NC_000014.8:g.72556829_72556830del, NG_029236.1:g.163013_163014del

Select item 149148342719.

rs1491483427 has merged into rs56397216 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:72116973 (GRCh38)
14:72583690 (GRCh37)
Canonical SPDI:: NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:72116963:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RGS6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.72116973_72116987del, NC_000014.9:g.72116975_72116987del, NC_000014.9:g.72116976_72116987del, NC_000014.9:g.72116977_72116987del, NC_000014.9:g.72116978_72116987del, NC_000014.9:g.72116979_72116987del, NC_000014.9:g.72116980_72116987del, NC_000014.9:g.72116981_72116987del, NC_000014.9:g.72116982_72116987del, NC_000014.9:g.72116983_72116987del, NC_000014.9:g.72116984_72116987del, NC_000014.9:g.72116985_72116987del, NC_000014.9:g.72116986_72116987del, NC_000014.9:g.72116987del, NC_000014.9:g.72116987dup, NC_000014.9:g.72116986_72116987dup, NC_000014.9:g.72116985_72116987dup, NC_000014.9:g.72116984_72116987dup, NC_000014.9:g.72116983_72116987dup, NC_000014.9:g.72116982_72116987dup, NC_000014.9:g.72116981_72116987dup, NC_000014.9:g.72116979_72116987dup, NC_000014.8:g.72583690_72583704del, NC_000014.8:g.72583692_72583704del, NC_000014.8:g.72583693_72583704del, NC_000014.8:g.72583694_72583704del, NC_000014.8:g.72583695_72583704del, NC_000014.8:g.72583696_72583704del, NC_000014.8:g.72583697_72583704del, NC_000014.8:g.72583698_72583704del, NC_000014.8:g.72583699_72583704del, NC_000014.8:g.72583700_72583704del, NC_000014.8:g.72583701_72583704del, NC_000014.8:g.72583702_72583704del, NC_000014.8:g.72583703_72583704del, NC_000014.8:g.72583704del, NC_000014.8:g.72583704dup, NC_000014.8:g.72583703_72583704dup, NC_000014.8:g.72583702_72583704dup, NC_000014.8:g.72583701_72583704dup, NC_000014.8:g.72583700_72583704dup, NC_000014.8:g.72583699_72583704dup, NC_000014.8:g.72583698_72583704dup, NC_000014.8:g.72583696_72583704dup, NG_029236.1:g.189874_189888del, NG_029236.1:g.189876_189888del, NG_029236.1:g.189877_189888del, NG_029236.1:g.189878_189888del, NG_029236.1:g.189879_189888del, NG_029236.1:g.189880_189888del, NG_029236.1:g.189881_189888del, NG_029236.1:g.189882_189888del, NG_029236.1:g.189883_189888del, NG_029236.1:g.189884_189888del, NG_029236.1:g.189885_189888del, NG_029236.1:g.189886_189888del, NG_029236.1:g.189887_189888del, NG_029236.1:g.189888del, NG_029236.1:g.189888dup, NG_029236.1:g.189887_189888dup, NG_029236.1:g.189886_189888dup, NG_029236.1:g.189885_189888dup, NG_029236.1:g.189884_189888dup, NG_029236.1:g.189883_189888dup, NG_029236.1:g.189882_189888dup, NG_029236.1:g.189880_189888dup

Select item 149147868220.

rs1491478682 has merged into rs60889084 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C,CC,CCC,CCCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 14:72580315 (GRCh38)
14:73047024 (GRCh37)
Canonical SPDI:: NC_000014.9:72580315:CCCC:CCCCC,NC_000014.9:72580315:CCCC:CCCCCC,NC_000014.9:72580315:CCCC:CCCCCCC,NC_000014.9:72580315:CCCC:CCCCCCCC,NC_000014.9:72580315:CCCC:CCCCCCCCC,NC_000014.9:72580315:CCCC:CCCCCCCCCC
Gene:: RGS6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
CC=0.00012/2 (TOMMO)
HGVS:: NC_000014.9:g.72580319dup, NC_000014.9:g.72580318_72580319dup, NC_000014.9:g.72580317_72580319dup, NC_000014.9:g.72580316_72580319dup, NC_000014.9:g.72580319_72580320insCCCCC, NC_000014.9:g.72580319_72580320insCCCCCC, NC_000014.8:g.73047027dup, NC_000014.8:g.73047026_73047027dup, NC_000014.8:g.73047025_73047027dup, NC_000014.8:g.73047024_73047027dup, NC_000014.8:g.73047027_73047028insCCCCC, NC_000014.8:g.73047027_73047028insCCCCCC

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