SNP Links for Gene (Select 6446) - SNP

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Select item 14915801701.

rs1491580170 [Homo sapiens]

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

Select item 14915741402.

rs1491574140 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:134286476 (GRCh38)
6:134607615 (GRCh37)
Canonical SPDI:: NC_000006.12:134286476:T:TT
Gene:: SGK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000006.12:g.134286477dup, NC_000006.11:g.134607615dup

Select item 14915727793.

rs1491572779 has merged into rs528359922 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 6:134271324 (GRCh38)
6:134592462 (GRCh37)
Canonical SPDI:: NC_000006.12:134271311:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:134271311:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:134271311:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:134271311:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:134271311:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: SGK1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.05252/25 (NorthernSweden)
-=0.10526/4 (GENOME_DK)
HGVS:: NC_000006.12:g.134271324_134271326del, NC_000006.12:g.134271325_134271326del, NC_000006.12:g.134271326del, NC_000006.12:g.134271326dup, NC_000006.12:g.134271325_134271326dup, NC_000006.11:g.134592462_134592464del, NC_000006.11:g.134592463_134592464del, NC_000006.11:g.134592464del, NC_000006.11:g.134592464dup, NC_000006.11:g.134592463_134592464dup

Select item 14915664884.

rs1491566488 has merged into rs10580443 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 6:134214591 (GRCh38)
6:134535729 (GRCh37)
Canonical SPDI:: NC_000006.12:134214579:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:134214579:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:134214579:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:134214579:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:134214579:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: SGK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.2709/1044 (ALSPAC)
-=0.3323/1664 (1000Genomes)
HGVS:: NC_000006.12:g.134214591_134214593del, NC_000006.12:g.134214592_134214593del, NC_000006.12:g.134214593del, NC_000006.12:g.134214593dup, NC_000006.12:g.134214587_134214593dup, NC_000006.11:g.134535729_134535731del, NC_000006.11:g.134535730_134535731del, NC_000006.11:g.134535731del, NC_000006.11:g.134535731dup, NC_000006.11:g.134535725_134535731dup

Select item 14915561655.

rs1491556165 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CC,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,GC,GCC,GCCC,GCCCC,GCCCCC,GCCCCCCC,TCCC [Show Flanks]
Chromosome:: 6:134260367 (GRCh38)
6:134581506 (GRCh37)
Canonical SPDI:: NC_000006.12:134260367::C,NC_000006.12:134260367::CC,NC_000006.12:134260367::CCC,NC_000006.12:134260367::CCCC,NC_000006.12:134260367::CCCCC,NC_000006.12:134260367::CCCCCC,NC_000006.12:134260367::CCCCCCC,NC_000006.12:134260367::CCCCCCCC,NC_000006.12:134260367::GC,NC_000006.12:134260367::GCC,NC_000006.12:134260367::GCCC,NC_000006.12:134260367::GCCCC,NC_000006.12:134260367::GCCCCC,NC_000006.12:134260367::GCCCCCCC,NC_000006.12:134260367::TCCC
Gene:: SGK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
CCCC=0.00248/4 (Korea1K)
HGVS:: NC_000006.12:g.134260367_134260368insC, NC_000006.12:g.134260367_134260368insCC, NC_000006.12:g.134260367_134260368insCCC, NC_000006.12:g.134260367_134260368insCCCC, NC_000006.12:g.134260367_134260368insCCCCC, NC_000006.12:g.134260367_134260368insCCCCCC, NC_000006.12:g.134260367_134260368insCCCCCCC, NC_000006.12:g.134260367_134260368insCCCCCCCC, NC_000006.12:g.134260367_134260368insGC, NC_000006.12:g.134260367_134260368insGCC, NC_000006.12:g.134260367_134260368insGCCC, NC_000006.12:g.134260367_134260368insGCCCC, NC_000006.12:g.134260367_134260368insGCCCCC, NC_000006.12:g.134260367_134260368insGCCCCCCC, NC_000006.12:g.134260367_134260368insTCCC, NC_000006.11:g.134581505_134581506insC, NC_000006.11:g.134581505_134581506insCC, NC_000006.11:g.134581505_134581506insCCC, NC_000006.11:g.134581505_134581506insCCCC, NC_000006.11:g.134581505_134581506insCCCCC, NC_000006.11:g.134581505_134581506insCCCCCC, NC_000006.11:g.134581505_134581506insCCCCCCC, NC_000006.11:g.134581505_134581506insCCCCCCCC, NC_000006.11:g.134581505_134581506insGC, NC_000006.11:g.134581505_134581506insGCC, NC_000006.11:g.134581505_134581506insGCCC, NC_000006.11:g.134581505_134581506insGCCCC, NC_000006.11:g.134581505_134581506insGCCCCC, NC_000006.11:g.134581505_134581506insGCCCCCCC, NC_000006.11:g.134581505_134581506insTCCC

Select item 14915427156.

rs1491542715 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:134300537 (GRCh38)
6:134621675 (GRCh37)
Canonical SPDI:: NC_000006.12:134300536:CA:
Gene:: SGK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00126/15 (ALFA)
-=0.0023/4 (Korea1K)
-=0.00281/79 (TOMMO)
HGVS:: NC_000006.12:g.134300537_134300538del, NC_000006.11:g.134621675_134621676del

Select item 14915423997.

rs1491542399 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:134173584 (GRCh38)
6:134494722 (GRCh37)
Canonical SPDI:: NC_000006.12:134173582:AGA:A
Gene:: SGK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000027/3 (ExAC)
-=0.000027/6 (GnomAD_exomes)
-=0.00005/7 (GnomAD)
HGVS:: NC_000006.12:g.134173584_134173585del, NC_000006.11:g.134494722_134494723del

Select item 14915349128.

rs1491534912 has merged into rs11345877 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 6:134180883 (GRCh38)
6:134502021 (GRCh37)
Canonical SPDI:: NC_000006.12:134180871:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:134180871:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:134180871:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:134180871:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:134180871:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:134180871:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:134180871:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:134180871:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: SGK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.3435/191 (NorthernSweden)
A=0.45/18 (GENOME_DK)
-=0.4599/2303 (1000Genomes)
HGVS:: NC_000006.12:g.134180883_134180887del, NC_000006.12:g.134180884_134180887del, NC_000006.12:g.134180885_134180887del, NC_000006.12:g.134180886_134180887del, NC_000006.12:g.134180887del, NC_000006.12:g.134180887dup, NC_000006.12:g.134180885_134180887dup, NC_000006.12:g.134180884_134180887dup, NC_000006.11:g.134502021_134502025del, NC_000006.11:g.134502022_134502025del, NC_000006.11:g.134502023_134502025del, NC_000006.11:g.134502024_134502025del, NC_000006.11:g.134502025del, NC_000006.11:g.134502025dup, NC_000006.11:g.134502023_134502025dup, NC_000006.11:g.134502022_134502025dup

Select item 14915321369.

rs1491532136 has merged into rs60207020 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 6:134232051 (GRCh38)
6:134553189 (GRCh37)
Canonical SPDI:: NC_000006.12:134232038:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:134232038:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:134232038:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:134232038:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:134232038:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:134232038:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:134232038:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:134232038:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: SGK1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.134232051_134232054del, NC_000006.12:g.134232052_134232054del, NC_000006.12:g.134232053_134232054del, NC_000006.12:g.134232054del, NC_000006.12:g.134232054dup, NC_000006.12:g.134232053_134232054dup, NC_000006.12:g.134232052_134232054dup, NC_000006.12:g.134232051_134232054dup, NC_000006.11:g.134553189_134553192del, NC_000006.11:g.134553190_134553192del, NC_000006.11:g.134553191_134553192del, NC_000006.11:g.134553192del, NC_000006.11:g.134553192dup, NC_000006.11:g.134553191_134553192dup, NC_000006.11:g.134553190_134553192dup, NC_000006.11:g.134553189_134553192dup

Select item 149151286510.

rs1491512865 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:134211877 (GRCh38)
6:134533015 (GRCh37)
Canonical SPDI:: NC_000006.12:134211876:GA:
Gene:: SGK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.134211877_134211878del, NC_000006.11:g.134533015_134533016del

Select item 149150770311.

rs1491507703 [Homo sapiens]

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

Select item 149150737612.

rs1491507376 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:134225352 (GRCh38)
6:134546490 (GRCh37)
Canonical SPDI:: NC_000006.12:134225351:GA:
Gene:: SGK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0027/32 (ALFA)
-=0.00573/519 (GnomAD)
HGVS:: NC_000006.12:g.134225352_134225353del, NC_000006.11:g.134546490_134546491del

Select item 149150735813.

rs1491507358 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GA [Show Flanks]
Chromosome:: 6:134185551 (GRCh38)
6:134506690 (GRCh37)
Canonical SPDI:: NC_000006.12:134185551::G,NC_000006.12:134185551::GA
Gene:: SGK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GA=0./0 (ALFA)
G=0.000243/29 (GnomAD)
HGVS:: NC_000006.12:g.134185551_134185552insG, NC_000006.12:g.134185551_134185552insGA, NC_000006.11:g.134506689_134506690insG, NC_000006.11:g.134506689_134506690insGA

Select item 149148503514.

rs1491485035 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 6:134188929 (GRCh38)
6:134510067 (GRCh37)
Canonical SPDI:: NC_000006.12:134188928:TG:
Gene:: SGK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01239/147 (ALFA)
-=0.00071/20 (TOMMO)
-=0.00164/3 (Korea1K)
HGVS:: NC_000006.12:g.134188929_134188930del, NC_000006.11:g.134510067_134510068del

Select item 149147719715.

rs1491477197 has merged into rs753776503 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>-,CGCG,CGCGCG,CGCGCGCG [Show Flanks]
Chromosome:: 6:134189229 (GRCh38)
6:134510367 (GRCh37)
Canonical SPDI:: NC_000006.12:134189227:GCG:G,NC_000006.12:134189227:GCG:GCGCG,NC_000006.12:134189227:GCG:GCGCGCG,NC_000006.12:134189227:GCG:GCGCGCGCG
Gene:: SGK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCG=0./0 (ALFA)
GC=0.00004/1 (TOMMO)
GC=0.35833/1381 (ALSPAC)
GC=0.3603/1336 (TWINSUK)
HGVS:: NC_000006.12:g.134189229_134189230del, NC_000006.12:g.134189229_134189230dup, NC_000006.12:g.134189229CG[3], NC_000006.12:g.134189229CG[4], NC_000006.11:g.134510367_134510368del, NC_000006.11:g.134510367_134510368dup, NC_000006.11:g.134510367CG[3], NC_000006.11:g.134510367CG[4]

Select item 149147121616.

rs1491471216 has merged into rs35942047 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 6:134259492 (GRCh38)
6:134580630 (GRCh37)
Canonical SPDI:: NC_000006.12:134259477:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:134259477:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:134259477:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:134259477:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:134259477:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SGK1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.27349/163 (NorthernSweden)
-=0.36162/1811 (1000Genomes)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000006.12:g.134259492_134259494del, NC_000006.12:g.134259493_134259494del, NC_000006.12:g.134259494del, NC_000006.12:g.134259494dup, NC_000006.12:g.134259493_134259494dup, NC_000006.11:g.134580630_134580632del, NC_000006.11:g.134580631_134580632del, NC_000006.11:g.134580632del, NC_000006.11:g.134580632dup, NC_000006.11:g.134580631_134580632dup

Select item 149145650117.

rs1491456501 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 6:134314809 (GRCh38)
6:134635947 (GRCh37)
Canonical SPDI:: NC_000006.12:134314808:TC:
Gene:: SGK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.134314809_134314810del, NC_000006.11:g.134635947_134635948del

Select item 149144594518.

rs1491445945 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:134191834 (GRCh38)
6:134512972 (GRCh37)
Canonical SPDI:: NC_000006.12:134191833:GA:
Gene:: SGK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00265/44 (TOMMO)
HGVS:: NC_000006.12:g.134191834_134191835del, NC_000006.11:g.134512972_134512973del

Select item 149143725419.

rs1491437254 has merged into rs60194315 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 6:134268957 (GRCh38)
6:134590095 (GRCh37)
Canonical SPDI:: NC_000006.12:134268946:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:134268946:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:134268946:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:134268946:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:134268946:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:134268946:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:134268946:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:134268946:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:134268946:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:134268946:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: SGK1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.2484/1244 (1000Genomes)
HGVS:: NC_000006.12:g.134268957_134268963del, NC_000006.12:g.134268958_134268963del, NC_000006.12:g.134268959_134268963del, NC_000006.12:g.134268960_134268963del, NC_000006.12:g.134268961_134268963del, NC_000006.12:g.134268962_134268963del, NC_000006.12:g.134268963del, NC_000006.12:g.134268963dup, NC_000006.12:g.134268962_134268963dup, NC_000006.12:g.134268961_134268963dup, NC_000006.11:g.134590095_134590101del, NC_000006.11:g.134590096_134590101del, NC_000006.11:g.134590097_134590101del, NC_000006.11:g.134590098_134590101del, NC_000006.11:g.134590099_134590101del, NC_000006.11:g.134590100_134590101del, NC_000006.11:g.134590101del, NC_000006.11:g.134590101dup, NC_000006.11:g.134590100_134590101dup, NC_000006.11:g.134590099_134590101dup

Select item 149143244820.

rs1491432448 has merged into rs927312586 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 6:134229873 (GRCh38)
6:134551011 (GRCh37)
Canonical SPDI:: NC_000006.12:134229865:TTTTTTTTT:TTTTTTT,NC_000006.12:134229865:TTTTTTTTT:TTTTTTTT,NC_000006.12:134229865:TTTTTTTTT:TTTTTTTTTT
Gene:: SGK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000091/24 (TOPMED)
HGVS:: NC_000006.12:g.134229873_134229874del, NC_000006.12:g.134229874del, NC_000006.12:g.134229874dup, NC_000006.11:g.134551011_134551012del, NC_000006.11:g.134551012del, NC_000006.11:g.134551012dup

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