SNP Links for Gene (Select 4882) - SNP

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Select item 14915708981.

rs1491570898 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 9:35787108 (GRCh38)
9:35787105 (GRCh37)
Canonical SPDI:: NC_000009.12:35787107:AT:
Gene:: RGP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000253/3 (ALFA)
-=0.000138/19 (GnomAD)
-=0.000354/6 (TOMMO)
-=0.000546/1 (Korea1K)
HGVS:: NC_000009.12:g.35787108_35787109del, NC_000009.11:g.35787105_35787106del

Select item 14915248132.

rs1491524813 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:35781984 (GRCh38)
9:35781982 (GRCh37)
Canonical SPDI:: NC_000009.12:35781984::G
Gene:: RGP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.35781984_35781985insG, NC_000009.11:g.35781981_35781982insG

Select item 14914999873.

rs1491499987 has merged into rs5897617 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 9:35772804 (GRCh38)
9:35772801 (GRCh37)
Canonical SPDI:: NC_000009.12:35772790:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:35772790:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:35772790:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:35772790:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:35772790:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:35772790:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:35772790:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35772790:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: RGP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000009.12:g.35772804_35772809del, NC_000009.12:g.35772806_35772809del, NC_000009.12:g.35772807_35772809del, NC_000009.12:g.35772808_35772809del, NC_000009.12:g.35772809del, NC_000009.12:g.35772809dup, NC_000009.12:g.35772808_35772809dup, NC_000009.12:g.35772807_35772809dup, NC_000009.11:g.35772801_35772806del, NC_000009.11:g.35772803_35772806del, NC_000009.11:g.35772804_35772806del, NC_000009.11:g.35772805_35772806del, NC_000009.11:g.35772806del, NC_000009.11:g.35772806dup, NC_000009.11:g.35772805_35772806dup, NC_000009.11:g.35772804_35772806dup

Select item 14914899224.

rs1491489922 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:35772790 (GRCh38)
9:35772787 (GRCh37)
Canonical SPDI:: NC_000009.12:35772789:CA:
Gene:: RGP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000009.12:g.35772790_35772791del, NC_000009.11:g.35772787_35772788del

Select item 14914629585.

rs1491462958 has merged into rs60697844 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:35763886 (GRCh38)
9:35763883 (GRCh37)
Canonical SPDI:: NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35763881:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RGP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.3293/1649 (1000Genomes)
HGVS:: NC_000009.12:g.35763886_35763900del, NC_000009.12:g.35763892_35763900del, NC_000009.12:g.35763893_35763900del, NC_000009.12:g.35763894_35763900del, NC_000009.12:g.35763895_35763900del, NC_000009.12:g.35763896_35763900del, NC_000009.12:g.35763897_35763900del, NC_000009.12:g.35763898_35763900del, NC_000009.12:g.35763899_35763900del, NC_000009.12:g.35763900del, NC_000009.12:g.35763900dup, NC_000009.12:g.35763899_35763900dup, NC_000009.12:g.35763898_35763900dup, NC_000009.12:g.35763897_35763900dup, NC_000009.12:g.35763896_35763900dup, NC_000009.12:g.35763895_35763900dup, NC_000009.12:g.35763894_35763900dup, NC_000009.12:g.35763893_35763900dup, NC_000009.12:g.35763892_35763900dup, NC_000009.12:g.35763891_35763900dup, NC_000009.12:g.35763890_35763900dup, NC_000009.12:g.35763888_35763900dup, NC_000009.12:g.35763886_35763900dup, NC_000009.11:g.35763883_35763897del, NC_000009.11:g.35763889_35763897del, NC_000009.11:g.35763890_35763897del, NC_000009.11:g.35763891_35763897del, NC_000009.11:g.35763892_35763897del, NC_000009.11:g.35763893_35763897del, NC_000009.11:g.35763894_35763897del, NC_000009.11:g.35763895_35763897del, NC_000009.11:g.35763896_35763897del, NC_000009.11:g.35763897del, NC_000009.11:g.35763897dup, NC_000009.11:g.35763896_35763897dup, NC_000009.11:g.35763895_35763897dup, NC_000009.11:g.35763894_35763897dup, NC_000009.11:g.35763893_35763897dup, NC_000009.11:g.35763892_35763897dup, NC_000009.11:g.35763891_35763897dup, NC_000009.11:g.35763890_35763897dup, NC_000009.11:g.35763889_35763897dup, NC_000009.11:g.35763888_35763897dup, NC_000009.11:g.35763887_35763897dup, NC_000009.11:g.35763885_35763897dup, NC_000009.11:g.35763883_35763897dup

Select item 14914157966.

rs1491415796 has merged into rs71336407 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:35781993 (GRCh38)
9:35781990 (GRCh37)
Canonical SPDI:: NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RGP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.35781993_35782004del, NC_000009.12:g.35781997_35782004del, NC_000009.12:g.35781998_35782004del, NC_000009.12:g.35782000_35782004del, NC_000009.12:g.35782001_35782004del, NC_000009.12:g.35782002_35782004del, NC_000009.12:g.35782003_35782004del, NC_000009.12:g.35782004del, NC_000009.12:g.35782004dup, NC_000009.12:g.35782003_35782004dup, NC_000009.12:g.35782002_35782004dup, NC_000009.12:g.35782001_35782004dup, NC_000009.12:g.35782000_35782004dup, NC_000009.12:g.35781999_35782004dup, NC_000009.12:g.35781998_35782004dup, NC_000009.11:g.35781990_35782001del, NC_000009.11:g.35781994_35782001del, NC_000009.11:g.35781995_35782001del, NC_000009.11:g.35781997_35782001del, NC_000009.11:g.35781998_35782001del, NC_000009.11:g.35781999_35782001del, NC_000009.11:g.35782000_35782001del, NC_000009.11:g.35782001del, NC_000009.11:g.35782001dup, NC_000009.11:g.35782000_35782001dup, NC_000009.11:g.35781999_35782001dup, NC_000009.11:g.35781998_35782001dup, NC_000009.11:g.35781997_35782001dup, NC_000009.11:g.35781996_35782001dup, NC_000009.11:g.35781995_35782001dup

Select item 14913985407.

rs1491398540 [Homo sapiens]

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

Select item 14913806068.

rs1491380606 has merged into rs71276206 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC [Show Flanks]
Chromosome:: 9:35799446 (GRCh38)
9:35799443 (GRCh37)
Canonical SPDI:: NC_000009.12:35799444:CGC:C,NC_000009.12:35799444:CGC:CGCGC
Gene:: NPR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGC=0./0 (ALFA)
CG=0.000008/2 (TOPMED)
-=0.016386/275 (TOMMO)
-=0.020742/38 (Korea1K)
HGVS:: NC_000009.12:g.35799446_35799447del, NC_000009.12:g.35799446_35799447dup, NC_000009.11:g.35799443_35799444del, NC_000009.11:g.35799443_35799444dup, NG_009249.1:g.12038_12039del, NG_009249.1:g.12038_12039dup

Select item 14913683079.

rs1491368307 has merged into rs61689447 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT [Show Flanks]
Chromosome:: 9:35777457 (GRCh38)
9:35777454 (GRCh37)
Canonical SPDI:: NC_000009.12:35777445:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:35777445:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:35777445:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:35777445:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: RGP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0.0003/2 (ALFA)
TT=0.3029/1517 (1000Genomes)
TT=0.35/14 (GENOME_DK)
HGVS:: NC_000009.12:g.35777457_35777459del, NC_000009.12:g.35777458_35777459del, NC_000009.12:g.35777459del, NC_000009.12:g.35777459dup, NC_000009.11:g.35777454_35777456del, NC_000009.11:g.35777455_35777456del, NC_000009.11:g.35777456del, NC_000009.11:g.35777456dup

Select item 149131654310.

rs1491316543 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 9:35781983 (GRCh38)
9:35781980 (GRCh37)
Canonical SPDI:: NC_000009.12:35781982:GT:
Gene:: RGP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000053/6 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000009.12:g.35781983_35781984del, NC_000009.11:g.35781980_35781981del

Select item 149130031511.

rs1491300315 has merged into rs763074794 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:35767295 (GRCh38)
9:35767292 (GRCh37)
Canonical SPDI:: NC_000009.12:35767283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:35767283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:35767283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:35767283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:35767283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:35767283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:35767283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:35767283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:35767283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35767283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35767283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35767283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35767283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35767283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35767283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35767283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35767283:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RGP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.35767295_35767304del, NC_000009.12:g.35767296_35767304del, NC_000009.12:g.35767299_35767304del, NC_000009.12:g.35767300_35767304del, NC_000009.12:g.35767301_35767304del, NC_000009.12:g.35767302_35767304del, NC_000009.12:g.35767303_35767304del, NC_000009.12:g.35767304del, NC_000009.12:g.35767304dup, NC_000009.12:g.35767303_35767304dup, NC_000009.12:g.35767302_35767304dup, NC_000009.12:g.35767301_35767304dup, NC_000009.12:g.35767300_35767304dup, NC_000009.12:g.35767299_35767304dup, NC_000009.12:g.35767298_35767304dup, NC_000009.12:g.35767297_35767304dup, NC_000009.12:g.35767304_35767305insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.35767292_35767301del, NC_000009.11:g.35767293_35767301del, NC_000009.11:g.35767296_35767301del, NC_000009.11:g.35767297_35767301del, NC_000009.11:g.35767298_35767301del, NC_000009.11:g.35767299_35767301del, NC_000009.11:g.35767300_35767301del, NC_000009.11:g.35767301del, NC_000009.11:g.35767301dup, NC_000009.11:g.35767300_35767301dup, NC_000009.11:g.35767299_35767301dup, NC_000009.11:g.35767298_35767301dup, NC_000009.11:g.35767297_35767301dup, NC_000009.11:g.35767296_35767301dup, NC_000009.11:g.35767295_35767301dup, NC_000009.11:g.35767294_35767301dup, NC_000009.11:g.35767301_35767302insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149128685812.

rs1491286858 has merged into rs5897617 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 9:35772804 (GRCh38)
9:35772801 (GRCh37)
Canonical SPDI:: NC_000009.12:35772790:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:35772790:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:35772790:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:35772790:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:35772790:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:35772790:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:35772790:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:35772790:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: RGP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000009.12:g.35772804_35772809del, NC_000009.12:g.35772806_35772809del, NC_000009.12:g.35772807_35772809del, NC_000009.12:g.35772808_35772809del, NC_000009.12:g.35772809del, NC_000009.12:g.35772809dup, NC_000009.12:g.35772808_35772809dup, NC_000009.12:g.35772807_35772809dup, NC_000009.11:g.35772801_35772806del, NC_000009.11:g.35772803_35772806del, NC_000009.11:g.35772804_35772806del, NC_000009.11:g.35772805_35772806del, NC_000009.11:g.35772806del, NC_000009.11:g.35772806dup, NC_000009.11:g.35772805_35772806dup, NC_000009.11:g.35772804_35772806dup

Select item 149121591213.

rs1491215912 has merged into rs201422857 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT [Show Flanks]
Chromosome:: 9:35787109 (GRCh38)
9:35787106 (GRCh37)
Canonical SPDI:: NC_000009.12:35787108:TTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:35787108:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:35787108:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: RGP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.00223/37 (TOMMO)
-=0.015/9 (NorthernSweden)
-=0.10526/4 (GENOME_DK)
HGVS:: NC_000009.12:g.35787119del, NC_000009.12:g.35787119dup, NC_000009.12:g.35787118_35787119dup, NC_000009.11:g.35787116del, NC_000009.11:g.35787116dup, NC_000009.11:g.35787115_35787116dup

Select item 149114096114.

rs1491140961 has merged into rs34848500 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:35759927 (GRCh38)
9:35759924 (GRCh37)
Canonical SPDI:: NC_000009.12:35759917:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:35759917:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:35759917:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:35759917:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:35759917:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:35759917:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35759917:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTT,NC_000009.12:35759917:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35759917:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTT,NC_000009.12:35759917:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35759917:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35759917:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RGP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4012/2009 (1000Genomes)
-=0.4086/1515 (TWINSUK)
-=0.4198/1618 (ALSPAC)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000009.12:g.35759927_35759931del, NC_000009.12:g.35759929_35759931del, NC_000009.12:g.35759930_35759931del, NC_000009.12:g.35759931del, NC_000009.12:g.35759931dup, NC_000009.12:g.35759922_35759931dup, NC_000009.12:g.35759918_35759931T[25]CTTTTTTTTTTTTTTT[1], NC_000009.12:g.35759920_35759931dup, NC_000009.12:g.35759918_35759931T[26]CTTTTTTTTTTTTTTT[1], NC_000009.12:g.35759931_35759932insTTTTTTTTTTTTTTT, NC_000009.12:g.35759931_35759932insTTTTTTTTTTTTTTTT, NC_000009.12:g.35759931_35759932insTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.35759924_35759928del, NC_000009.11:g.35759926_35759928del, NC_000009.11:g.35759927_35759928del, NC_000009.11:g.35759928del, NC_000009.11:g.35759928dup, NC_000009.11:g.35759919_35759928dup, NC_000009.11:g.35759915_35759928T[25]CTTTTTTTTTTTTTTT[1], NC_000009.11:g.35759917_35759928dup, NC_000009.11:g.35759915_35759928T[26]CTTTTTTTTTTTTTTT[1], NC_000009.11:g.35759928_35759929insTTTTTTTTTTTTTTT, NC_000009.11:g.35759928_35759929insTTTTTTTTTTTTTTTT, NC_000009.11:g.35759928_35759929insTTTTTTTTTTTTTTTTTTTTTTT

Select item 149112798115.

rs1491127981 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 9:35777445 (GRCh38)
9:35777442 (GRCh37)
Canonical SPDI:: NC_000009.12:35777444:GT:
Gene:: RGP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00051/6 (ALFA)
-=0.00011/2 (TOMMO)
-=0.00056/44 (GnomAD)
HGVS:: NC_000009.12:g.35777445_35777446del, NC_000009.11:g.35777442_35777443del

Select item 149109109216.

rs1491091092 has merged into rs71336407 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:35781993 (GRCh38)
9:35781990 (GRCh37)
Canonical SPDI:: NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:35781983:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RGP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.35781993_35782004del, NC_000009.12:g.35781997_35782004del, NC_000009.12:g.35781998_35782004del, NC_000009.12:g.35782000_35782004del, NC_000009.12:g.35782001_35782004del, NC_000009.12:g.35782002_35782004del, NC_000009.12:g.35782003_35782004del, NC_000009.12:g.35782004del, NC_000009.12:g.35782004dup, NC_000009.12:g.35782003_35782004dup, NC_000009.12:g.35782002_35782004dup, NC_000009.12:g.35782001_35782004dup, NC_000009.12:g.35782000_35782004dup, NC_000009.12:g.35781999_35782004dup, NC_000009.12:g.35781998_35782004dup, NC_000009.11:g.35781990_35782001del, NC_000009.11:g.35781994_35782001del, NC_000009.11:g.35781995_35782001del, NC_000009.11:g.35781997_35782001del, NC_000009.11:g.35781998_35782001del, NC_000009.11:g.35781999_35782001del, NC_000009.11:g.35782000_35782001del, NC_000009.11:g.35782001del, NC_000009.11:g.35782001dup, NC_000009.11:g.35782000_35782001dup, NC_000009.11:g.35781999_35782001dup, NC_000009.11:g.35781998_35782001dup, NC_000009.11:g.35781997_35782001dup, NC_000009.11:g.35781996_35782001dup, NC_000009.11:g.35781995_35782001dup

Select item 149108284717.

rs1491082847 [Homo sapiens]

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

Select item 149106227118.

rs1491062271 has merged into rs59763394 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTG>-,TG,TGTGTG,TGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 9:35794847 (GRCh38)
9:35794844 (GRCh37)
Canonical SPDI:: NC_000009.12:35794834:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000009.12:35794834:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000009.12:35794834:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000009.12:35794834:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000009.12:35794834:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:35794834:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:35794834:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:35794834:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000009.12:35794834:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: NPR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TG=0.225/9 (GENOME_DK)
HGVS:: NC_000009.12:g.35794835TG[6], NC_000009.12:g.35794835TG[7], NC_000009.12:g.35794835TG[9], NC_000009.12:g.35794835TG[10], NC_000009.12:g.35794835TG[12], NC_000009.12:g.35794835TG[13], NC_000009.12:g.35794835TG[14], NC_000009.12:g.35794835TG[15], NC_000009.12:g.35794835TG[16], NC_000009.11:g.35794832TG[6], NC_000009.11:g.35794832TG[7], NC_000009.11:g.35794832TG[9], NC_000009.11:g.35794832TG[10], NC_000009.11:g.35794832TG[12], NC_000009.11:g.35794832TG[13], NC_000009.11:g.35794832TG[14], NC_000009.11:g.35794832TG[15], NC_000009.11:g.35794832TG[16], NG_009249.1:g.7427TG[6], NG_009249.1:g.7427TG[7], NG_009249.1:g.7427TG[9], NG_009249.1:g.7427TG[10], NG_009249.1:g.7427TG[12], NG_009249.1:g.7427TG[13], NG_009249.1:g.7427TG[14], NG_009249.1:g.7427TG[15], NG_009249.1:g.7427TG[16]

Select item 149104482019.

rs1491044820 has merged into rs71276206 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC [Show Flanks]
Chromosome:: 9:35799446 (GRCh38)
9:35799443 (GRCh37)
Canonical SPDI:: NC_000009.12:35799444:CGC:C,NC_000009.12:35799444:CGC:CGCGC
Gene:: NPR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGC=0./0 (ALFA)
CG=0.000008/2 (TOPMED)
-=0.016386/275 (TOMMO)
-=0.020742/38 (Korea1K)
HGVS:: NC_000009.12:g.35799446_35799447del, NC_000009.12:g.35799446_35799447dup, NC_000009.11:g.35799443_35799444del, NC_000009.11:g.35799443_35799444dup, NG_009249.1:g.12038_12039del, NG_009249.1:g.12038_12039dup

Select item 149101370820.

rs1491013708 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T [Show Flanks]
Chromosome:: 9:35787107 (GRCh38)
9:35787105 (GRCh37)
Canonical SPDI:: NC_000009.12:35787107::C,NC_000009.12:35787107::T
Gene:: RGP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00043/7 (ALFA)
HGVS:: NC_000009.12:g.35787107_35787108insC, NC_000009.12:g.35787107_35787108insT, NC_000009.11:g.35787104_35787105insC, NC_000009.11:g.35787104_35787105insT

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