SNP Links for Gene (Select 85397) - SNP

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Select item 14915701291.

rs1491570129 has merged into rs34120446 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 1:182716483 (GRCh38)
1:182685618 (GRCh37)
Canonical SPDI:: NC_000001.11:182716474:TTTTTTTTTT:TTTTTTTT,NC_000001.11:182716474:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:182716474:TTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:182716474:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: RGS8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.016/4235 (TOPMED)
-=0.022509/103 (1000Genomes)
HGVS:: NC_000001.11:g.182716483_182716484del, NC_000001.11:g.182716484del, NC_000001.11:g.182716484dup, NC_000001.11:g.182716483_182716484dup, NC_000001.10:g.182685618_182685619del, NC_000001.10:g.182685619del, NC_000001.10:g.182685619dup, NC_000001.10:g.182685618_182685619dup

Select item 14915499062.

rs1491549906 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:182722363 (GRCh38)
1:182691498 (GRCh37)
Canonical SPDI:: NC_000001.11:182722362:CA:
Gene:: RGS8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.03903/463 (ALFA)
-=0.00121/20 (TOMMO)
HGVS:: NC_000001.11:g.182722363_182722364del, NC_000001.10:g.182691498_182691499del

Select item 14915388093.

rs1491538809 has merged into rs1160218506 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 1:182720954 (GRCh38)
1:182690089 (GRCh37)
Canonical SPDI:: NC_000001.11:182720952:ACA:A,NC_000001.11:182720952:ACA:ACACA
Gene:: RGS8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
AC=0.00096/16 (TOMMO)
HGVS:: NC_000001.11:g.182720954_182720955del, NC_000001.11:g.182720954_182720955dup, NC_000001.10:g.182690089_182690090del, NC_000001.10:g.182690089_182690090dup

Select item 14915363254.

rs1491536325 has merged into rs913799391 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC [Show Flanks]
Chromosome:: 1:182643335 (GRCh38)
1:182612470 (GRCh37)
Canonical SPDI:: NC_000001.11:182643331:CCCCC:CCC,NC_000001.11:182643331:CCCCC:CCCC,NC_000001.11:182643331:CCCCC:CCCCCC,NC_000001.11:182643331:CCCCC:CCCCCCCC,NC_000001.11:182643331:CCCCC:CCCCCCCCCCCC,NC_000001.11:182643331:CCCCC:CCCCCCCCCCCCC,NC_000001.11:182643331:CCCCC:CCCCCCCCCCCCCC,NC_000001.11:182643331:CCCCC:CCCCCCCCCCCCCCC
Gene:: RGS8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
CCCCCCC=0.00015/2 (TOMMO)
HGVS:: NC_000001.11:g.182643335_182643336del, NC_000001.11:g.182643336del, NC_000001.11:g.182643336dup, NC_000001.11:g.182643334_182643336dup, NC_000001.11:g.182643336_182643337insCCCCCCC, NC_000001.11:g.182643336_182643337insCCCCCCCC, NC_000001.11:g.182643336_182643337insCCCCCCCCC, NC_000001.11:g.182643336_182643337insCCCCCCCCCC, NC_000001.10:g.182612470_182612471del, NC_000001.10:g.182612471del, NC_000001.10:g.182612471dup, NC_000001.10:g.182612469_182612471dup, NC_000001.10:g.182612471_182612472insCCCCCCC, NC_000001.10:g.182612471_182612472insCCCCCCCC, NC_000001.10:g.182612471_182612472insCCCCCCCCC, NC_000001.10:g.182612471_182612472insCCCCCCCCCC, NM_033345.4:c.*3402_*3403del, NM_033345.4:c.*3403del, NM_033345.4:c.*3403dup, NM_033345.4:c.*3401_*3403dup, NM_033345.4:c.*3403_*3404insGGGGGGG, NM_033345.4:c.*3403_*3404insGGGGGGGG, NM_033345.4:c.*3403_*3404insGGGGGGGGG, NM_033345.4:c.*3403_*3404insGGGGGGGGGG, NM_033345.3:c.*3402_*3403del, NM_033345.3:c.*3403del, NM_033345.3:c.*3403dup, NM_033345.3:c.*3401_*3403dup, NM_033345.3:c.*3403_*3404insGGGGGGG, NM_033345.3:c.*3403_*3404insGGGGGGGG, NM_033345.3:c.*3403_*3404insGGGGGGGGG, NM_033345.3:c.*3403_*3404insGGGGGGGGGG, XM_011510089.4:c.*3402_*3403del, XM_011510089.4:c.*3403del, XM_011510089.4:c.*3403dup, XM_011510089.4:c.*3401_*3403dup, XM_011510089.4:c.*3403_*3404insGGGGGGG, XM_011510089.4:c.*3403_*3404insGGGGGGGG, XM_011510089.4:c.*3403_*3404insGGGGGGGGG, XM_011510089.4:c.*3403_*3404insGGGGGGGGGG, XM_011510089.3:c.*3402_*3403del, XM_011510089.3:c.*3403del, XM_011510089.3:c.*3403dup, XM_011510089.3:c.*3401_*3403dup, XM_011510089.3:c.*3403_*3404insGGGGGGG, XM_011510089.3:c.*3403_*3404insGGGGGGGG, XM_011510089.3:c.*3403_*3404insGGGGGGGGG, XM_011510089.3:c.*3403_*3404insGGGGGGGGGG, XM_011510089.2:c.*3402_*3403del, XM_011510089.2:c.*3403del, XM_011510089.2:c.*3403dup, XM_011510089.2:c.*3401_*3403dup, XM_011510089.2:c.*3403_*3404insGGGGGGG, XM_011510089.2:c.*3403_*3404insGGGGGGGG, XM_011510089.2:c.*3403_*3404insGGGGGGGGG, XM_011510089.2:c.*3403_*3404insGGGGGGGGGG, XM_017002631.3:c.*3402_*3403del, XM_017002631.3:c.*3403del, XM_017002631.3:c.*3403dup, XM_017002631.3:c.*3401_*3403dup, XM_017002631.3:c.*3403_*3404insGGGGGGG, XM_017002631.3:c.*3403_*3404insGGGGGGGG, XM_017002631.3:c.*3403_*3404insGGGGGGGGG, XM_017002631.3:c.*3403_*3404insGGGGGGGGGG, XM_017002631.2:c.*3402_*3403del, XM_017002631.2:c.*3403del, XM_017002631.2:c.*3403dup, XM_017002631.2:c.*3401_*3403dup, XM_017002631.2:c.*3403_*3404insGGGGGGG, XM_017002631.2:c.*3403_*3404insGGGGGGGG, XM_017002631.2:c.*3403_*3404insGGGGGGGGG, XM_017002631.2:c.*3403_*3404insGGGGGGGGGG, XM_017002631.1:c.*3402_*3403del, XM_017002631.1:c.*3403del, XM_017002631.1:c.*3403dup, XM_017002631.1:c.*3401_*3403dup, XM_017002631.1:c.*3403_*3404insGGGGGGG, XM_017002631.1:c.*3403_*3404insGGGGGGGG, XM_017002631.1:c.*3403_*3404insGGGGGGGGG, XM_017002631.1:c.*3403_*3404insGGGGGGGGGG, NM_001102450.3:c.*3402_*3403del, NM_001102450.3:c.*3403del, NM_001102450.3:c.*3403dup, NM_001102450.3:c.*3401_*3403dup, NM_001102450.3:c.*3403_*3404insGGGGGGG, NM_001102450.3:c.*3403_*3404insGGGGGGGG, NM_001102450.3:c.*3403_*3404insGGGGGGGGG, NM_001102450.3:c.*3403_*3404insGGGGGGGGGG, NM_001102450.2:c.*3402_*3403del, NM_001102450.2:c.*3403del, NM_001102450.2:c.*3403dup, NM_001102450.2:c.*3401_*3403dup, NM_001102450.2:c.*3403_*3404insGGGGGGG, NM_001102450.2:c.*3403_*3404insGGGGGGGG, NM_001102450.2:c.*3403_*3404insGGGGGGGGG, NM_001102450.2:c.*3403_*3404insGGGGGGGGGG, NM_001369564.2:c.*3402_*3403del, NM_001369564.2:c.*3403del, NM_001369564.2:c.*3403dup, NM_001369564.2:c.*3401_*3403dup, NM_001369564.2:c.*3403_*3404insGGGGGGG, NM_001369564.2:c.*3403_*3404insGGGGGGGG, NM_001369564.2:c.*3403_*3404insGGGGGGGGG, NM_001369564.2:c.*3403_*3404insGGGGGGGGGG, NM_001369564.1:c.*3402_*3403del, NM_001369564.1:c.*3403del, NM_001369564.1:c.*3403dup, NM_001369564.1:c.*3401_*3403dup, NM_001369564.1:c.*3403_*3404insGGGGGGG, NM_001369564.1:c.*3403_*3404insGGGGGGGG, NM_001369564.1:c.*3403_*3404insGGGGGGGGG, NM_001369564.1:c.*3403_*3404insGGGGGGGGGG, NM_001387847.1:c.*3402_*3403del, NM_001387847.1:c.*3403del, NM_001387847.1:c.*3403dup, NM_001387847.1:c.*3401_*3403dup, NM_001387847.1:c.*3403_*3404insGGGGGGG, NM_001387847.1:c.*3403_*3404insGGGGGGGG, NM_001387847.1:c.*3403_*3404insGGGGGGGGG, NM_001387847.1:c.*3403_*3404insGGGGGGGGGG, NM_001387848.1:c.*3402_*3403del, NM_001387848.1:c.*3403del, NM_001387848.1:c.*3403dup, NM_001387848.1:c.*3401_*3403dup, NM_001387848.1:c.*3403_*3404insGGGGGGG, NM_001387848.1:c.*3403_*3404insGGGGGGGG, NM_001387848.1:c.*3403_*3404insGGGGGGGGG, NM_001387848.1:c.*3403_*3404insGGGGGGGGGG, NM_001387849.1:c.*3402_*3403del, NM_001387849.1:c.*3403del, NM_001387849.1:c.*3403dup, NM_001387849.1:c.*3401_*3403dup, NM_001387849.1:c.*3403_*3404insGGGGGGG, NM_001387849.1:c.*3403_*3404insGGGGGGGG, NM_001387849.1:c.*3403_*3404insGGGGGGGGG, NM_001387849.1:c.*3403_*3404insGGGGGGGGGG, XM_047432939.1:c.*3402_*3403del, XM_047432939.1:c.*3403del, XM_047432939.1:c.*3403dup, XM_047432939.1:c.*3401_*3403dup, XM_047432939.1:c.*3403_*3404insGGGGGGG, XM_047432939.1:c.*3403_*3404insGGGGGGGG, XM_047432939.1:c.*3403_*3404insGGGGGGGGG, XM_047432939.1:c.*3403_*3404insGGGGGGGGGG

Select item 14915157315.

rs1491515731 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:182740574 (GRCh38)
1:182709709 (GRCh37)
Canonical SPDI:: NC_000001.11:182740572:TAT:T
Gene:: RGS8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.182740574_182740575del, NC_000001.10:g.182709709_182709710del

Select item 14914728736.

rs1491472873 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:182691607 (GRCh38)
1:182660742 (GRCh37)
Canonical SPDI:: NC_000001.11:182691606:TA:
Gene:: RGS8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.182691607_182691608del, NC_000001.10:g.182660742_182660743del

Select item 14914468357.

rs1491446835 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACACACCC,ACACACCC,ACACCC,ACCC [Show Flanks]
Chromosome:: 1:182689305 (GRCh38)
1:182658441 (GRCh37)
Canonical SPDI:: NC_000001.11:182689305:C:CACACACACCC,NC_000001.11:182689305:C:CACACACCC,NC_000001.11:182689305:C:CACACCC,NC_000001.11:182689305:C:CACCC
Gene:: RGS8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACCC=0./0 (ALFA)
ACACCC=0.00055/1 (Korea1K)
CACACC=0.00057/9 (TOMMO)
HGVS:: NC_000001.11:g.182689306CA[4]CCC[1], NC_000001.11:g.182689306CA[3]CCC[1], NC_000001.11:g.182689306CA[2]CCC[1], NC_000001.11:g.182689306_182689307insACCC, NC_000001.10:g.182658441CA[4]CCC[1], NC_000001.10:g.182658441CA[3]CCC[1], NC_000001.10:g.182658441CA[2]CCC[1], NC_000001.10:g.182658441_182658442insACCC

Select item 14914426728.

rs1491442672 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:182732272 (GRCh38)
1:182701407 (GRCh37)
Canonical SPDI:: NC_000001.11:182732270:ATA:A
Gene:: RGS8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00012/3 (TOMMO)
-=0.00022/16 (GnomAD)
-=0.03088/119 (ALSPAC)
-=0.03317/123 (TWINSUK)
HGVS:: NC_000001.11:g.182732272_182732273del, NC_000001.10:g.182701407_182701408del

Select item 14914009819.

rs1491400981 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TC [Show Flanks]
Chromosome:: 1:182661807 (GRCh38)
1:182630943 (GRCh37)
Canonical SPDI:: NC_000001.11:182661807:TC:TCTC
Gene:: RGS8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTC=0./0 (ALFA)
TC=0.000019/2 (GnomAD)
HGVS:: NC_000001.11:g.182661808_182661809dup, NC_000001.10:g.182630943_182630944dup

Select item 149138542410.

rs1491385424 has merged into rs10541181 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 1:182721087 (GRCh38)
1:182690222 (GRCh37)
Canonical SPDI:: NC_000001.11:182721082:ATATATAT:ATAT,NC_000001.11:182721082:ATATATAT:ATATAT,NC_000001.11:182721082:ATATATAT:ATATATATAT
Gene:: RGS8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
-=0.19802/40 (Vietnamese)
-=0.25084/150 (NorthernSweden)
-=0.27805/1031 (TWINSUK)
-=0.29035/1119 (ALSPAC)
-=0.29773/4949 (TOMMO)
-=0.36921/1849 (1000Genomes)
HGVS:: NC_000001.11:g.182721083AT[2], NC_000001.11:g.182721083AT[3], NC_000001.11:g.182721083AT[5], NC_000001.10:g.182690218AT[2], NC_000001.10:g.182690218AT[3], NC_000001.10:g.182690218AT[5]

Select item 149138236311.

rs1491382363 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:182721048 (GRCh38)
1:182690183 (GRCh37)
Canonical SPDI:: NC_000001.11:182721046:ATA:A
Gene:: RGS8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00278/33 (ALFA)
-=0.00032/20 (GnomAD)
HGVS:: NC_000001.11:g.182721048_182721049del, NC_000001.10:g.182690183_182690184del

Select item 149138217312.

rs1491382173 has merged into rs924027901 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 1:182662956 (GRCh38)
1:182632091 (GRCh37)
Canonical SPDI:: NC_000001.11:182662955:GGGGGGG:GGGGGG,NC_000001.11:182662955:GGGGGGG:GGGGGGGG
Gene:: RGS8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
HGVS:: NC_000001.11:g.182662962del, NC_000001.11:g.182662962dup, NC_000001.10:g.182632097del, NC_000001.10:g.182632097dup

Select item 149135439713.

rs1491354397 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATGATTTTAAT,TATGATTTTAATCT [Show Flanks]
Chromosome:: 1:182721015 (GRCh38)
1:182690151 (GRCh37)
Canonical SPDI:: NC_000001.11:182721015::TATGATTTTAAT,NC_000001.11:182721015::TATGATTTTAATCT
Gene:: RGS8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.182721015_182721016insTATGATTTTAAT, NC_000001.11:g.182721015_182721016insTATGATTTTAATCT, NC_000001.10:g.182690150_182690151insTATGATTTTAAT, NC_000001.10:g.182690150_182690151insTATGATTTTAATCT

Select item 149134335814.

rs1491343358 has merged into rs1294389800 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 1:182720905 (GRCh38)
1:182690040 (GRCh37)
Canonical SPDI:: NC_000001.11:182720902:ATAT:AT,NC_000001.11:182720902:ATAT:ATATAT
Gene:: RGS8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
HGVS:: NC_000001.11:g.182720903AT[1], NC_000001.11:g.182720903AT[3], NC_000001.10:g.182690038AT[1], NC_000001.10:g.182690038AT[3]

Select item 149133082615.

rs1491330826 has merged into rs71127319 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:182722376 (GRCh38)
1:182691511 (GRCh37)
Canonical SPDI:: NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182722363:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RGS8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.182722376_182722387del, NC_000001.11:g.182722377_182722387del, NC_000001.11:g.182722379_182722387del, NC_000001.11:g.182722380_182722387del, NC_000001.11:g.182722381_182722387del, NC_000001.11:g.182722383_182722387del, NC_000001.11:g.182722384_182722387del, NC_000001.11:g.182722385_182722387del, NC_000001.11:g.182722386_182722387del, NC_000001.11:g.182722387del, NC_000001.11:g.182722387dup, NC_000001.11:g.182722386_182722387dup, NC_000001.11:g.182722385_182722387dup, NC_000001.11:g.182722384_182722387dup, NC_000001.11:g.182722383_182722387dup, NC_000001.11:g.182722382_182722387dup, NC_000001.11:g.182722380_182722387dup, NC_000001.11:g.182722379_182722387dup, NC_000001.11:g.182722378_182722387dup, NC_000001.11:g.182722377_182722387dup, NC_000001.11:g.182722376_182722387dup, NC_000001.11:g.182722375_182722387dup, NC_000001.11:g.182722374_182722387dup, NC_000001.11:g.182722373_182722387dup, NC_000001.11:g.182722372_182722387dup, NC_000001.10:g.182691511_182691522del, NC_000001.10:g.182691512_182691522del, NC_000001.10:g.182691514_182691522del, NC_000001.10:g.182691515_182691522del, NC_000001.10:g.182691516_182691522del, NC_000001.10:g.182691518_182691522del, NC_000001.10:g.182691519_182691522del, NC_000001.10:g.182691520_182691522del, NC_000001.10:g.182691521_182691522del, NC_000001.10:g.182691522del, NC_000001.10:g.182691522dup, NC_000001.10:g.182691521_182691522dup, NC_000001.10:g.182691520_182691522dup, NC_000001.10:g.182691519_182691522dup, NC_000001.10:g.182691518_182691522dup, NC_000001.10:g.182691517_182691522dup, NC_000001.10:g.182691515_182691522dup, NC_000001.10:g.182691514_182691522dup, NC_000001.10:g.182691513_182691522dup, NC_000001.10:g.182691512_182691522dup, NC_000001.10:g.182691511_182691522dup, NC_000001.10:g.182691510_182691522dup, NC_000001.10:g.182691509_182691522dup, NC_000001.10:g.182691508_182691522dup, NC_000001.10:g.182691507_182691522dup

Select item 149132702716.

rs1491327027 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 1:182720903 (GRCh38)
1:182690039 (GRCh37)
Canonical SPDI:: NC_000001.11:182720903:T:TGT
Gene:: RGS8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
TG=0.00177/37 (GnomAD)
HGVS:: NC_000001.11:g.182720904_182720905insGT, NC_000001.10:g.182690039_182690040insGT

Select item 149132687217.

rs1491326872 has merged into rs773899685 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA [Show Flanks]
Chromosome:: 1:182721016 (GRCh38)
1:182690151 (GRCh37)
Canonical SPDI:: NC_000001.11:182721014:ACACA:A,NC_000001.11:182721014:ACACA:ACA,NC_000001.11:182721014:ACACA:ACACACA
Gene:: RGS8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
AC=0.04983/29 (NorthernSweden)
AC=0.225/9 (GENOME_DK)
HGVS:: NC_000001.11:g.182721016_182721019del, NC_000001.11:g.182721016CA[1], NC_000001.11:g.182721016CA[3], NC_000001.10:g.182690151_182690154del, NC_000001.10:g.182690151CA[1], NC_000001.10:g.182690151CA[3]

Select item 149131497918.

rs1491314979 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:182694150 (GRCh38)
1:182663285 (GRCh37)
Canonical SPDI:: NC_000001.11:182694148:AGA:A
Gene:: RGS8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.182694150_182694151del, NC_000001.10:g.182663285_182663286del

Select item 149130662119.

rs1491306621 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:182694149 (GRCh38)
1:182663285 (GRCh37)
Canonical SPDI:: NC_000001.11:182694149:G:GG
Gene:: RGS8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.182694150dup, NC_000001.10:g.182663285dup

Select item 149130493820.

rs1491304938 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 1:182721047 (GRCh38)
1:182690183 (GRCh37)
Canonical SPDI:: NC_000001.11:182721047:T:TGT
Gene:: RGS8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000001.11:g.182721048_182721049insGT, NC_000001.10:g.182690183_182690184insGT

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