SNP Links for Gene (Select 6003) - SNP

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Select item 14914807161.

rs1491480716 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 1:192641307 (GRCh38)
1:192610438 (GRCh37)
Canonical SPDI:: NC_000001.11:192641307:A:AGA
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
AG=0.00051/4 (TOMMO)
AG=0.00159/83 (GnomAD)
HGVS:: NC_000001.11:g.192641308_192641309insGA, NC_000001.10:g.192610438_192610439insGA

Select item 14914715752.

rs1491471575 has merged into rs1310622963 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>-,GAAGAA [Show Flanks]
Chromosome:: 1:192641228 (GRCh38)
1:192610358 (GRCh37)
Canonical SPDI:: NC_000001.11:192641225:AAGAA:AA,NC_000001.11:192641225:AAGAA:AAGAAGAA
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0./0 (GnomAD)
-=0.00118/26 (TOMMO)
HGVS:: NC_000001.11:g.192641228_192641230del, NC_000001.11:g.192641228_192641230dup, NC_000001.10:g.192610358_192610360del, NC_000001.10:g.192610358_192610360dup

Select item 14914678253.

rs1491467825 has merged into rs766320078 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GACAGA,GAGA [Show Flanks]
Chromosome:: 1:192641306 (GRCh38)
1:192610436 (GRCh37)
Canonical SPDI:: NC_000001.11:192641304:AGA:A,NC_000001.11:192641304:AGA:AGACAGA,NC_000001.11:192641304:AGA:AGAGA
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGACAGA=0./0 (ALFA)
AG=0.000004/1 (TOPMED)
-=0.175/7 (GENOME_DK)
-=0.231667/139 (NorthernSweden)
-=0.291719/4801 (TOMMO)
-=0.391282/1508 (ALSPAC)
-=0.423139/1569 (TWINSUK)
HGVS:: NC_000001.11:g.192641306_192641307del, NC_000001.11:g.192641307_192641308insCAGA, NC_000001.11:g.192641306_192641307dup, NC_000001.10:g.192610436_192610437del, NC_000001.10:g.192610437_192610438insCAGA, NC_000001.10:g.192610436_192610437dup

Select item 14914056734.

rs1491405673 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:192656345 (GRCh38)
1:192625475 (GRCh37)
Canonical SPDI:: NC_000001.11:192656343:TGT:T
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000253/3 (ALFA)
-=0.000167/23 (GnomAD)
-=0.000468/3 (1000Genomes)
HGVS:: NC_000001.11:g.192656345_192656346del, NC_000001.10:g.192625475_192625476del

Select item 14913223625.

rs1491322362 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 1:192641311 (GRCh38)
1:192610441 (GRCh37)
Canonical SPDI:: NC_000001.11:192641309:AGA:A,NC_000001.11:192641309:AGA:AGAGA
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000865/14 (ALFA)
AG=0.000008/2 (TOPMED)
-=0.004014/547 (GnomAD)
-=0.02562/95 (TWINSUK)
-=0.031396/121 (ALSPAC)
HGVS:: NC_000001.11:g.192641311_192641312del, NC_000001.11:g.192641311_192641312dup, NC_000001.10:g.192610441_192610442del, NC_000001.10:g.192610441_192610442dup

Select item 14913120696.

rs1491312069 has merged into rs1408337005 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 1:192641226 (GRCh38)
1:192610356 (GRCh37)
Canonical SPDI:: NC_000001.11:192641224:AAA:A,NC_000001.11:192641224:AAA:AAAA
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
A=0.00009/2 (TOMMO)
HGVS:: NC_000001.11:g.192641226_192641227del, NC_000001.11:g.192641227dup, NC_000001.10:g.192610356_192610357del, NC_000001.10:g.192610357dup

Select item 14912280457.

rs1491228045 has merged into rs71563592 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAAA [Show Flanks]
Chromosome:: 1:192641309 (GRCh38)
1:192610439 (GRCh37)
Canonical SPDI:: NC_000001.11:192641306:AAAA:AA,NC_000001.11:192641306:AAAA:AAA,NC_000001.11:192641306:AAAA:AAAAAA
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.10033/60 (NorthernSweden)
HGVS:: NC_000001.11:g.192641309_192641310del, NC_000001.11:g.192641310del, NC_000001.11:g.192641309_192641310dup, NC_000001.10:g.192610439_192610440del, NC_000001.10:g.192610440del, NC_000001.10:g.192610439_192610440dup

Select item 14909907518.

rs1490990751 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:192640740 (GRCh38)
1:192609870 (GRCh37)
Canonical SPDI:: NC_000001.11:192640739:T:C
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.192640740T>C, NC_000001.10:g.192609870T>C

Select item 14909541299.

rs1490954129 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAAAGAAAGAAAGAAAGAAAGAAA>- [Show Flanks]
Chromosome:: 1:192641257 (GRCh38)
1:192610387 (GRCh37)
Canonical SPDI:: NC_000001.11:192641245:AAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAA:AAAGAAAGAAA
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAGAAAGAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.192641257_192641281del, NC_000001.10:g.192610387_192610411del

Select item 149092760110.

rs1490927601 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:192654906 (GRCh38)
1:192624036 (GRCh37)
Canonical SPDI:: NC_000001.11:192654905:T:A
Gene:: RGS13 (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_000001.11:g.192654906T>A, NC_000001.10:g.192624036T>A

Select item 149074217211.

rs1490742172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:192653960 (GRCh38)
1:192623090 (GRCh37)
Canonical SPDI:: NC_000001.11:192653959:G:A,NC_000001.11:192653959:G:T
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.192653960G>A, NC_000001.11:g.192653960G>T, NC_000001.10:g.192623090G>A, NC_000001.10:g.192623090G>T

Select item 149067657912.

rs1490676579 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:192635602 (GRCh38)
1:192604732 (GRCh37)
Canonical SPDI:: NC_000001.11:192635601:A:G
Gene:: RGS13 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.192635602A>G, NC_000001.10:g.192604732A>G

Select item 149050078313.

rs1490500783 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:192641185 (GRCh38)
1:192610315 (GRCh37)
Canonical SPDI:: NC_000001.11:192641183:AAA:A
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000009/1 (GnomAD)
HGVS:: NC_000001.11:g.192641185_192641186del, NC_000001.10:g.192610315_192610316del

Select item 149046251314.

rs1490462513 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:192641305 (GRCh38)
1:192610435 (GRCh37)
Canonical SPDI:: NC_000001.11:192641304:A:G
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.192641305A>G, NC_000001.10:g.192610435A>G

Select item 149025423515.

rs1490254235 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:192655298 (GRCh38)
1:192624428 (GRCh37)
Canonical SPDI:: NC_000001.11:192655297:G:
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.192655298del, NC_000001.10:g.192624428del

Select item 149023990016.

rs1490239900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:192652613 (GRCh38)
1:192621743 (GRCh37)
Canonical SPDI:: NC_000001.11:192652612:G:T
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00043/7 (ALFA)
T=0.00156/7 (Estonian)
HGVS:: NC_000001.11:g.192652613G>T, NC_000001.10:g.192621743G>T

Select item 149018491317.

rs1490184913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:192636788 (GRCh38)
1:192605918 (GRCh37)
Canonical SPDI:: NC_000001.11:192636787:T:C
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.192636788T>C, NC_000001.10:g.192605918T>C

Select item 149000896018.

rs1490008960 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 1:192641244 (GRCh38)
1:192610374 (GRCh37)
Canonical SPDI:: NC_000001.11:192641241:AAGAA:AA
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.00009/1 (TOMMO)
-=0.0001/8 (GnomAD)
HGVS:: NC_000001.11:g.192641244_192641246del, NC_000001.10:g.192610374_192610376del

Select item 148969835119.

rs1489698351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:192649070 (GRCh38)
1:192618200 (GRCh37)
Canonical SPDI:: NC_000001.11:192649069:T:G
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.192649070T>G, NC_000001.10:g.192618200T>G

Select item 148964823220.

rs1489648232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:192648897 (GRCh38)
1:192618027 (GRCh37)
Canonical SPDI:: NC_000001.11:192648896:A:C
Gene:: RGS13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.192648897A>C, NC_000001.10:g.192618027A>C

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