SNP Links for Gene (Select 1378) - SNP

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Select item 14915846421.

rs1491584642 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:207619055 (GRCh38)
1:207792401 (GRCh37)
Canonical SPDI:: NC_000001.11:207619055:G:GG
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207619056dup, NC_000001.10:g.207792401dup, NG_007481.1:g.127929dup

Select item 14914768362.

rs1491476836 has merged into rs3991753 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATAT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT [Show Flanks]
Chromosome:: 1:207521816 (GRCh38)
1:207695161 (GRCh37)
Canonical SPDI:: NC_000001.11:207521807:ATATATATATATATATATAT:ATATATAT,NC_000001.11:207521807:ATATATATATATATATATAT:ATATATATATAT,NC_000001.11:207521807:ATATATATATATATATATAT:ATATATATATATAT,NC_000001.11:207521807:ATATATATATATATATATAT:ATATATATATATATAT,NC_000001.11:207521807:ATATATATATATATATATAT:ATATATATATATATATAT,NC_000001.11:207521807:ATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000001.11:207521807:ATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000001.11:207521807:ATATATATATATATATATAT:ATATATATATATATATATATATATAT
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
-=0.0402/155 (ALSPAC)
AT=0.1/4 (GENOME_DK)
HGVS:: NC_000001.11:g.207521808AT[4], NC_000001.11:g.207521808AT[6], NC_000001.11:g.207521808AT[7], NC_000001.11:g.207521808AT[8], NC_000001.11:g.207521808AT[9], NC_000001.11:g.207521808AT[11], NC_000001.11:g.207521808AT[12], NC_000001.11:g.207521808AT[13], NC_000001.10:g.207695153AT[4], NC_000001.10:g.207695153AT[6], NC_000001.10:g.207695153AT[7], NC_000001.10:g.207695153AT[8], NC_000001.10:g.207695153AT[9], NC_000001.10:g.207695153AT[11], NC_000001.10:g.207695153AT[12], NC_000001.10:g.207695153AT[13], NG_007481.1:g.30681AT[4], NG_007481.1:g.30681AT[6], NG_007481.1:g.30681AT[7], NG_007481.1:g.30681AT[8], NG_007481.1:g.30681AT[9], NG_007481.1:g.30681AT[11], NG_007481.1:g.30681AT[12], NG_007481.1:g.30681AT[13]

Select item 14914616153.

rs1491461615 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:207521807 (GRCh38)
1:207695152 (GRCh37)
Canonical SPDI:: NC_000001.11:207521806:AA:
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00027/7 (GnomAD)
HGVS:: NC_000001.11:g.207521807_207521808del, NC_000001.10:g.207695152_207695153del, NG_007481.1:g.30680_30681del

Select item 14914203204.

rs1491420320 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CACA,CACACA [Show Flanks]
Chromosome:: 1:207575200 (GRCh38)
1:207748546 (GRCh37)
Canonical SPDI:: NC_000001.11:207575200:A:ACA,NC_000001.11:207575200:A:ACACA,NC_000001.11:207575200:A:ACACACA
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
HGVS:: NC_000001.11:g.207575201_207575202insCA, NC_000001.11:g.207575201_207575202insCACA, NC_000001.11:g.207575202CA[3], NC_000001.10:g.207748546_207748547insCA, NC_000001.10:g.207748546_207748547insCACA, NC_000001.10:g.207748547CA[3], NG_007481.1:g.84074_84075insCA, NG_007481.1:g.84074_84075insCACA, NG_007481.1:g.84075CA[3]

Select item 14914135415.

rs1491413541 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACAAA,CAGA,GA [Show Flanks]
Chromosome:: 1:207575232 (GRCh38)
1:207748578 (GRCh37)
Canonical SPDI:: NC_000001.11:207575232:A:ACACAAA,NC_000001.11:207575232:A:ACAGA,NC_000001.11:207575232:A:AGA
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAGA=0./0 (ALFA)
AG=0.00078/5 (1000Genomes)
HGVS:: NC_000001.11:g.207575233AC[2]AAA[1], NC_000001.11:g.207575233_207575234insCAGA, NC_000001.11:g.207575233_207575234insGA, NC_000001.10:g.207748578AC[2]AAA[1], NC_000001.10:g.207748578_207748579insCAGA, NC_000001.10:g.207748578_207748579insGA, NG_007481.1:g.84106AC[2]AAA[1], NG_007481.1:g.84106_84107insCAGA, NG_007481.1:g.84106_84107insGA

Select item 14914013236.

rs1491401323 has merged into rs71154831 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:207642022 (GRCh38)
1:207815367 (GRCh37)
Canonical SPDI:: NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:207642010:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CR1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
-=0.4509/2258 (1000Genomes)
HGVS:: NC_000001.11:g.207642022_207642034del, NC_000001.11:g.207642023_207642034del, NC_000001.11:g.207642024_207642034del, NC_000001.11:g.207642025_207642034del, NC_000001.11:g.207642026_207642034del, NC_000001.11:g.207642028_207642034del, NC_000001.11:g.207642029_207642034del, NC_000001.11:g.207642031_207642034del, NC_000001.11:g.207642032_207642034del, NC_000001.11:g.207642033_207642034del, NC_000001.11:g.207642034del, NC_000001.11:g.207642034dup, NC_000001.11:g.207642033_207642034dup, NC_000001.11:g.207642032_207642034dup, NC_000001.11:g.207642031_207642034dup, NC_000001.11:g.207642030_207642034dup, NC_000001.11:g.207642029_207642034dup, NC_000001.11:g.207642028_207642034dup, NC_000001.11:g.207642027_207642034dup, NC_000001.11:g.207642026_207642034dup, NC_000001.11:g.207642025_207642034dup, NC_000001.11:g.207642034_207642035insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.207815367_207815379del, NC_000001.10:g.207815368_207815379del, NC_000001.10:g.207815369_207815379del, NC_000001.10:g.207815370_207815379del, NC_000001.10:g.207815371_207815379del, NC_000001.10:g.207815373_207815379del, NC_000001.10:g.207815374_207815379del, NC_000001.10:g.207815376_207815379del, NC_000001.10:g.207815377_207815379del, NC_000001.10:g.207815378_207815379del, NC_000001.10:g.207815379del, NC_000001.10:g.207815379dup, NC_000001.10:g.207815378_207815379dup, NC_000001.10:g.207815377_207815379dup, NC_000001.10:g.207815376_207815379dup, NC_000001.10:g.207815375_207815379dup, NC_000001.10:g.207815374_207815379dup, NC_000001.10:g.207815373_207815379dup, NC_000001.10:g.207815372_207815379dup, NC_000001.10:g.207815371_207815379dup, NC_000001.10:g.207815370_207815379dup, NC_000001.10:g.207815379_207815380insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007481.1:g.150895_150907del, NG_007481.1:g.150896_150907del, NG_007481.1:g.150897_150907del, NG_007481.1:g.150898_150907del, NG_007481.1:g.150899_150907del, NG_007481.1:g.150901_150907del, NG_007481.1:g.150902_150907del, NG_007481.1:g.150904_150907del, NG_007481.1:g.150905_150907del, NG_007481.1:g.150906_150907del, NG_007481.1:g.150907del, NG_007481.1:g.150907dup, NG_007481.1:g.150906_150907dup, NG_007481.1:g.150905_150907dup, NG_007481.1:g.150904_150907dup, NG_007481.1:g.150903_150907dup, NG_007481.1:g.150902_150907dup, NG_007481.1:g.150901_150907dup, NG_007481.1:g.150900_150907dup, NG_007481.1:g.150899_150907dup, NG_007481.1:g.150898_150907dup, NG_007481.1:g.150907_150908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912496437.

rs1491249643 has merged into rs67078800 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:207619384 (GRCh38)
1:207792729 (GRCh37)
Canonical SPDI:: NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619376:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.1409/543 (ALSPAC)
HGVS:: NC_000001.11:g.207619384_207619394del, NC_000001.11:g.207619385_207619394del, NC_000001.11:g.207619387_207619394del, NC_000001.11:g.207619388_207619394del, NC_000001.11:g.207619389_207619394del, NC_000001.11:g.207619390_207619394del, NC_000001.11:g.207619391_207619394del, NC_000001.11:g.207619392_207619394del, NC_000001.11:g.207619393_207619394del, NC_000001.11:g.207619394del, NC_000001.11:g.207619394dup, NC_000001.11:g.207619393_207619394dup, NC_000001.11:g.207619392_207619394dup, NC_000001.11:g.207619391_207619394dup, NC_000001.11:g.207619390_207619394dup, NC_000001.11:g.207619389_207619394dup, NC_000001.11:g.207619388_207619394dup, NC_000001.11:g.207619387_207619394dup, NC_000001.11:g.207619385_207619394dup, NC_000001.11:g.207619384_207619394dup, NC_000001.11:g.207619383_207619394dup, NC_000001.11:g.207619382_207619394dup, NC_000001.11:g.207619380_207619394dup, NC_000001.11:g.207619379_207619394dup, NC_000001.11:g.207619378_207619394dup, NC_000001.11:g.207619394_207619395insAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.207619394_207619395insAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.207619394_207619395insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.207792729_207792739del, NC_000001.10:g.207792730_207792739del, NC_000001.10:g.207792732_207792739del, NC_000001.10:g.207792733_207792739del, NC_000001.10:g.207792734_207792739del, NC_000001.10:g.207792735_207792739del, NC_000001.10:g.207792736_207792739del, NC_000001.10:g.207792737_207792739del, NC_000001.10:g.207792738_207792739del, NC_000001.10:g.207792739del, NC_000001.10:g.207792739dup, NC_000001.10:g.207792738_207792739dup, NC_000001.10:g.207792737_207792739dup, NC_000001.10:g.207792736_207792739dup, NC_000001.10:g.207792735_207792739dup, NC_000001.10:g.207792734_207792739dup, NC_000001.10:g.207792733_207792739dup, NC_000001.10:g.207792732_207792739dup, NC_000001.10:g.207792730_207792739dup, NC_000001.10:g.207792729_207792739dup, NC_000001.10:g.207792728_207792739dup, NC_000001.10:g.207792727_207792739dup, NC_000001.10:g.207792725_207792739dup, NC_000001.10:g.207792724_207792739dup, NC_000001.10:g.207792723_207792739dup, NC_000001.10:g.207792739_207792740insAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.207792739_207792740insAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.207792739_207792740insAAAAAAAAAAAAAAAAAAAAAA, NG_007481.1:g.128257_128267del, NG_007481.1:g.128258_128267del, NG_007481.1:g.128260_128267del, NG_007481.1:g.128261_128267del, NG_007481.1:g.128262_128267del, NG_007481.1:g.128263_128267del, NG_007481.1:g.128264_128267del, NG_007481.1:g.128265_128267del, NG_007481.1:g.128266_128267del, NG_007481.1:g.128267del, NG_007481.1:g.128267dup, NG_007481.1:g.128266_128267dup, NG_007481.1:g.128265_128267dup, NG_007481.1:g.128264_128267dup, NG_007481.1:g.128263_128267dup, NG_007481.1:g.128262_128267dup, NG_007481.1:g.128261_128267dup, NG_007481.1:g.128260_128267dup, NG_007481.1:g.128258_128267dup, NG_007481.1:g.128257_128267dup, NG_007481.1:g.128256_128267dup, NG_007481.1:g.128255_128267dup, NG_007481.1:g.128253_128267dup, NG_007481.1:g.128252_128267dup, NG_007481.1:g.128251_128267dup, NG_007481.1:g.128267_128268insAAAAAAAAAAAAAAAAAAA, NG_007481.1:g.128267_128268insAAAAAAAAAAAAAAAAAAAA, NG_007481.1:g.128267_128268insAAAAAAAAAAAAAAAAAAAAAA

Select item 14912200348.

rs1491220034 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 1:207515266 (GRCh38)
1:207688611 (GRCh37)
Canonical SPDI:: NC_000001.11:207515265:CG:
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00006/8 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.207515266_207515267del, NC_000001.10:g.207688611_207688612del, NG_007481.1:g.24139_24140del

Select item 14911619199.

rs1491161919 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:207619376 (GRCh38)
1:207792721 (GRCh37)
Canonical SPDI:: NC_000001.11:207619375:CA:
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000001.11:g.207619376_207619377del, NC_000001.10:g.207792721_207792722del, NG_007481.1:g.128249_128250del

Select item 149115581910.

rs1491155819 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTATATGTATACATATATA [Show Flanks]
Chromosome:: 1:207515266 (GRCh38)
1:207688612 (GRCh37)
Canonical SPDI:: NC_000001.11:207515266:GTATACATATATAGGTATATGTATACATATATA:GTATACATATATAGGTATATGTATACATATATAGGTATATGTATACATATATA
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTATACATATATAGGTATATGTATACATATATAGGTATATGTATACATATATA=0.000084/1 (ALFA)
GTATACATATATAGGTATAT=0.000059/7 (GnomAD)
HGVS:: NC_000001.11:g.207515280_207515299dup, NC_000001.10:g.207688625_207688644dup, NG_007481.1:g.24153_24172dup

Select item 149113621211.

rs1491136212 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:207619056 (GRCh38)
1:207792401 (GRCh37)
Canonical SPDI:: NC_000001.11:207619054:AGA:A
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00109/30 (TOMMO)
HGVS:: NC_000001.11:g.207619056_207619057del, NC_000001.10:g.207792401_207792402del, NG_007481.1:g.127929_127930del

Select item 149112107112.

rs1491121071 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:207575202 (GRCh38)
1:207748547 (GRCh37)
Canonical SPDI:: NC_000001.11:207575199:TATA:TA
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATA=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.207575200TA[1], NC_000001.10:g.207748545TA[1], NG_007481.1:g.84073TA[1]

Select item 149108646013.

rs1491086460 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AACA [Show Flanks]
Chromosome:: 1:207605340 (GRCh38)
1:207778686 (GRCh37)
Canonical SPDI:: NC_000001.11:207605340:ACA:ACAAACA
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACAAACA=0./0 (ALFA)
ACAA=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207605343_207605344insAACA, NC_000001.10:g.207778688_207778689insAACA, NG_007481.1:g.114216_114217insAACA

Select item 149108409414.

rs1491084094 has merged into rs71727231 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:207619045 (GRCh38)
1:207792390 (GRCh37)
Canonical SPDI:: NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207619036:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.207619045_207619055del, NC_000001.11:g.207619046_207619055del, NC_000001.11:g.207619048_207619055del, NC_000001.11:g.207619049_207619055del, NC_000001.11:g.207619050_207619055del, NC_000001.11:g.207619051_207619055del, NC_000001.11:g.207619052_207619055del, NC_000001.11:g.207619053_207619055del, NC_000001.11:g.207619054_207619055del, NC_000001.11:g.207619055del, NC_000001.11:g.207619055dup, NC_000001.11:g.207619054_207619055dup, NC_000001.11:g.207619053_207619055dup, NC_000001.11:g.207619052_207619055dup, NC_000001.11:g.207619051_207619055dup, NC_000001.11:g.207619050_207619055dup, NC_000001.11:g.207619049_207619055dup, NC_000001.11:g.207619048_207619055dup, NC_000001.11:g.207619045_207619055dup, NC_000001.11:g.207619041_207619055dup, NC_000001.11:g.207619040_207619055dup, NC_000001.11:g.207619039_207619055dup, NC_000001.10:g.207792390_207792400del, NC_000001.10:g.207792391_207792400del, NC_000001.10:g.207792393_207792400del, NC_000001.10:g.207792394_207792400del, NC_000001.10:g.207792395_207792400del, NC_000001.10:g.207792396_207792400del, NC_000001.10:g.207792397_207792400del, NC_000001.10:g.207792398_207792400del, NC_000001.10:g.207792399_207792400del, NC_000001.10:g.207792400del, NC_000001.10:g.207792400dup, NC_000001.10:g.207792399_207792400dup, NC_000001.10:g.207792398_207792400dup, NC_000001.10:g.207792397_207792400dup, NC_000001.10:g.207792396_207792400dup, NC_000001.10:g.207792395_207792400dup, NC_000001.10:g.207792394_207792400dup, NC_000001.10:g.207792393_207792400dup, NC_000001.10:g.207792390_207792400dup, NC_000001.10:g.207792386_207792400dup, NC_000001.10:g.207792385_207792400dup, NC_000001.10:g.207792384_207792400dup, NG_007481.1:g.127918_127928del, NG_007481.1:g.127919_127928del, NG_007481.1:g.127921_127928del, NG_007481.1:g.127922_127928del, NG_007481.1:g.127923_127928del, NG_007481.1:g.127924_127928del, NG_007481.1:g.127925_127928del, NG_007481.1:g.127926_127928del, NG_007481.1:g.127927_127928del, NG_007481.1:g.127928del, NG_007481.1:g.127928dup, NG_007481.1:g.127927_127928dup, NG_007481.1:g.127926_127928dup, NG_007481.1:g.127925_127928dup, NG_007481.1:g.127924_127928dup, NG_007481.1:g.127923_127928dup, NG_007481.1:g.127922_127928dup, NG_007481.1:g.127921_127928dup, NG_007481.1:g.127918_127928dup, NG_007481.1:g.127914_127928dup, NG_007481.1:g.127913_127928dup, NG_007481.1:g.127912_127928dup

Select item 149103450415.

rs1491034504 has merged into rs57700679 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAATTAAAATTAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:207593097 (GRCh38)
1:207766442 (GRCh37)
Canonical SPDI:: NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:207593084:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATTAAAATTAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.207593097_207593103del, NC_000001.11:g.207593098_207593103del, NC_000001.11:g.207593099_207593103del, NC_000001.11:g.207593100_207593103del, NC_000001.11:g.207593101_207593103del, NC_000001.11:g.207593102_207593103del, NC_000001.11:g.207593103del, NC_000001.11:g.207593103dup, NC_000001.11:g.207593102_207593103dup, NC_000001.11:g.207593101_207593103dup, NC_000001.11:g.207593100_207593103dup, NC_000001.11:g.207593099_207593103dup, NC_000001.11:g.207593098_207593103dup, NC_000001.11:g.207593097_207593103dup, NC_000001.11:g.207593096_207593103dup, NC_000001.11:g.207593095_207593103dup, NC_000001.11:g.207593094_207593103dup, NC_000001.11:g.207593093_207593103dup, NC_000001.11:g.207593092_207593103dup, NC_000001.11:g.207593091_207593103dup, NC_000001.11:g.207593090_207593103dup, NC_000001.11:g.207593089_207593103dup, NC_000001.11:g.207593088_207593103dup, NC_000001.11:g.207593087_207593103dup, NC_000001.11:g.207593086_207593103dup, NC_000001.11:g.207593085_207593103dup, NC_000001.11:g.207593103_207593104insAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.207593103_207593104insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.207593085_207593103A[24]TTAAAA[2]A[19], NC_000001.10:g.207766442_207766448del, NC_000001.10:g.207766443_207766448del, NC_000001.10:g.207766444_207766448del, NC_000001.10:g.207766445_207766448del, NC_000001.10:g.207766446_207766448del, NC_000001.10:g.207766447_207766448del, NC_000001.10:g.207766448del, NC_000001.10:g.207766448dup, NC_000001.10:g.207766447_207766448dup, NC_000001.10:g.207766446_207766448dup, NC_000001.10:g.207766445_207766448dup, NC_000001.10:g.207766444_207766448dup, NC_000001.10:g.207766443_207766448dup, NC_000001.10:g.207766442_207766448dup, NC_000001.10:g.207766441_207766448dup, NC_000001.10:g.207766440_207766448dup, NC_000001.10:g.207766439_207766448dup, NC_000001.10:g.207766438_207766448dup, NC_000001.10:g.207766437_207766448dup, NC_000001.10:g.207766436_207766448dup, NC_000001.10:g.207766435_207766448dup, NC_000001.10:g.207766434_207766448dup, NC_000001.10:g.207766433_207766448dup, NC_000001.10:g.207766432_207766448dup, NC_000001.10:g.207766431_207766448dup, NC_000001.10:g.207766430_207766448dup, NC_000001.10:g.207766448_207766449insAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.207766448_207766449insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.207766430_207766448A[24]TTAAAA[2]A[19], NG_007481.1:g.101970_101976del, NG_007481.1:g.101971_101976del, NG_007481.1:g.101972_101976del, NG_007481.1:g.101973_101976del, NG_007481.1:g.101974_101976del, NG_007481.1:g.101975_101976del, NG_007481.1:g.101976del, NG_007481.1:g.101976dup, NG_007481.1:g.101975_101976dup, NG_007481.1:g.101974_101976dup, NG_007481.1:g.101973_101976dup, NG_007481.1:g.101972_101976dup, NG_007481.1:g.101971_101976dup, NG_007481.1:g.101970_101976dup, NG_007481.1:g.101969_101976dup, NG_007481.1:g.101968_101976dup, NG_007481.1:g.101967_101976dup, NG_007481.1:g.101966_101976dup, NG_007481.1:g.101965_101976dup, NG_007481.1:g.101964_101976dup, NG_007481.1:g.101963_101976dup, NG_007481.1:g.101962_101976dup, NG_007481.1:g.101961_101976dup, NG_007481.1:g.101960_101976dup, NG_007481.1:g.101959_101976dup, NG_007481.1:g.101958_101976dup, NG_007481.1:g.101976_101977insAAAAAAAAAAAAAAAAAAAA, NG_007481.1:g.101976_101977insAAAAAAAAAAAAAAAAAAAAAAAA, NG_007481.1:g.101958_101976A[24]TTAAAA[2]A[19]

Select item 149102861416.

rs1491028614 has merged into rs1181595164 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 1:207577261 (GRCh38)
1:207750606 (GRCh37)
Canonical SPDI:: NC_000001.11:207577259:ACA:A,NC_000001.11:207577259:ACA:ACACA
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACACA=0./0 (ALFA)
AC=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.207577261_207577262del, NC_000001.11:g.207577261_207577262dup, NC_000001.10:g.207750606_207750607del, NC_000001.10:g.207750606_207750607dup, NG_007481.1:g.86134_86135del, NG_007481.1:g.86134_86135dup

Select item 149092461317.

rs1490924613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:207542908 (GRCh38)
1:207716253 (GRCh37)
Canonical SPDI:: NC_000001.11:207542907:C:T
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.207542908C>T, NC_000001.10:g.207716253C>T, NG_007481.1:g.51781C>T

Select item 149090332318.

rs1490903323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:207590316 (GRCh38)
1:207763661 (GRCh37)
Canonical SPDI:: NC_000001.11:207590315:A:G
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.207590316A>G, NC_000001.10:g.207763661A>G, NG_007481.1:g.99189A>G

Select item 149088075919.

rs1490880759 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:207575779 (GRCh38)
1:207749124 (GRCh37)
Canonical SPDI:: NC_000001.11:207575778:A:G
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207575779A>G, NC_000001.10:g.207749124A>G, NG_007481.1:g.84652A>G

Select item 149084738020.

rs1490847380 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATAATAAATA [Show Flanks]
Chromosome:: 1:207591474 (GRCh38)
1:207764820 (GRCh37)
Canonical SPDI:: NC_000001.11:207591474:A:AATAATAAATA
Gene:: CR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATAATAAATA=0./0 (ALFA)
AATAATAAAT=0.000011/3 (TOPMED)
AATAATAAAT=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.207591475AAT[2]AAATA[1], NC_000001.10:g.207764820AAT[2]AAATA[1], NG_007481.1:g.100348AAT[2]AAATA[1]

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