SNP Links for Gene (Select 9993) - SNP

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Select item 14915796051.

rs1491579605 has merged into rs538842818 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:19049838 (GRCh38)
22:19037351 (GRCh37)
Canonical SPDI:: NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DGCR2 (Varview), DGCR11 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.4289/2148 (1000Genomes)
HGVS:: NC_000022.11:g.19049838_19049845del, NC_000022.11:g.19049840_19049845del, NC_000022.11:g.19049841_19049845del, NC_000022.11:g.19049842_19049845del, NC_000022.11:g.19049843_19049845del, NC_000022.11:g.19049844_19049845del, NC_000022.11:g.19049845del, NC_000022.11:g.19049845dup, NC_000022.11:g.19049844_19049845dup, NC_000022.11:g.19049843_19049845dup, NC_000022.11:g.19049842_19049845dup, NC_000022.11:g.19049841_19049845dup, NC_000022.10:g.19037351_19037358del, NC_000022.10:g.19037353_19037358del, NC_000022.10:g.19037354_19037358del, NC_000022.10:g.19037355_19037358del, NC_000022.10:g.19037356_19037358del, NC_000022.10:g.19037357_19037358del, NC_000022.10:g.19037358del, NC_000022.10:g.19037358dup, NC_000022.10:g.19037357_19037358dup, NC_000022.10:g.19037356_19037358dup, NC_000022.10:g.19037355_19037358dup, NC_000022.10:g.19037354_19037358dup, NG_021333.2:g.77621_77628del, NG_021333.2:g.77623_77628del, NG_021333.2:g.77624_77628del, NG_021333.2:g.77625_77628del, NG_021333.2:g.77626_77628del, NG_021333.2:g.77627_77628del, NG_021333.2:g.77628del, NG_021333.2:g.77628dup, NG_021333.2:g.77627_77628dup, NG_021333.2:g.77626_77628dup, NG_021333.2:g.77625_77628dup, NG_021333.2:g.77624_77628dup

Select item 14915651622.

rs1491565162 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 22:19052442 (GRCh38)
22:19039955 (GRCh37)
Canonical SPDI:: NC_000022.11:19052439:AAAA:AA
Gene:: DGCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0.000253/3 (ALFA)
-=0.000045/6 (GnomAD)
HGVS:: NC_000022.11:g.19052442_19052443del, NC_000022.10:g.19039955_19039956del, NG_021333.2:g.75014_75015del

Select item 14915184403.

rs1491518440 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GACACCA [Show Flanks]
Chromosome:: 22:19060433 (GRCh38)
22:19047947 (GRCh37)
Canonical SPDI:: NC_000022.11:19060433:AGACACCA:AGACACCAGACACCA
Gene:: DGCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGACACCAGACACCA=0./0 (ALFA)
AGACACC=0.000011/3 (TOPMED)
AGACACC=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.19060435_19060441dup, NC_000022.10:g.19047948_19047954dup, NG_021333.2:g.67015_67021dup

Select item 14915182334.

rs1491518233 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 22:19065956 (GRCh38)
22:19053469 (GRCh37)
Canonical SPDI:: NC_000022.11:19065955:AT:
Gene:: DGCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.19065956_19065957del, NC_000022.10:g.19053469_19053470del, NG_021333.2:g.61498_61499del

Select item 14915138985.

rs1491513898 has merged into rs35065228 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 22:19096902 (GRCh38)
22:19084415 (GRCh37)
Canonical SPDI:: NC_000022.11:19096894:AAAAAAAAAAAA:AAAAAAA,NC_000022.11:19096894:AAAAAAAAAAAA:AAAAAAAA,NC_000022.11:19096894:AAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:19096894:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:19096894:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:19096894:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:19096894:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: DGCR2 (Varview), LOC124905078 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.19096902_19096906del, NC_000022.11:g.19096903_19096906del, NC_000022.11:g.19096905_19096906del, NC_000022.11:g.19096906del, NC_000022.11:g.19096906dup, NC_000022.11:g.19096905_19096906dup, NC_000022.11:g.19096904_19096906dup, NC_000022.10:g.19084415_19084419del, NC_000022.10:g.19084416_19084419del, NC_000022.10:g.19084418_19084419del, NC_000022.10:g.19084419del, NC_000022.10:g.19084419dup, NC_000022.10:g.19084418_19084419dup, NC_000022.10:g.19084417_19084419dup, NG_021333.2:g.30556_30560del, NG_021333.2:g.30557_30560del, NG_021333.2:g.30559_30560del, NG_021333.2:g.30560del, NG_021333.2:g.30560dup, NG_021333.2:g.30559_30560dup, NG_021333.2:g.30558_30560dup, XR_007068002.1:n.2308_2312del, XR_007068002.1:n.2309_2312del, XR_007068002.1:n.2311_2312del, XR_007068002.1:n.2312del, XR_007068002.1:n.2312dup, XR_007068002.1:n.2311_2312dup, XR_007068002.1:n.2310_2312dup

Select item 14915030416.

rs1491503041 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 22:19059692 (GRCh38)
22:19047205 (GRCh37)
Canonical SPDI:: NC_000022.11:19059691:AT:
Gene:: DGCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000049/13 (TOPMED)
-=0.000057/8 (GnomAD)
HGVS:: NC_000022.11:g.19059692_19059693del, NC_000022.10:g.19047205_19047206del, NG_021333.2:g.67762_67763del

Select item 14915015157.

rs1491501515 has merged into rs34670843 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 22:19052431 (GRCh38)
22:19039944 (GRCh37)
Canonical SPDI:: NC_000022.11:19052414:CACACACACACACACACACACACACA:CACACACACACACACA,NC_000022.11:19052414:CACACACACACACACACACACACACA:CACACACACACACACACA,NC_000022.11:19052414:CACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000022.11:19052414:CACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000022.11:19052414:CACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000022.11:19052414:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000022.11:19052414:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000022.11:19052414:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000022.11:19052414:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000022.11:19052414:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000022.11:19052414:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000022.11:19052414:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000022.11:19052414:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:19052414:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:19052414:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA
Gene:: DGCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACA=0./0 (ALFA)
CACA=0.3355/1680 (1000Genomes)
HGVS:: NC_000022.11:g.19052415CA[8], NC_000022.11:g.19052415CA[9], NC_000022.11:g.19052415CA[10], NC_000022.11:g.19052415CA[11], NC_000022.11:g.19052415CA[12], NC_000022.11:g.19052415CA[14], NC_000022.11:g.19052415CA[15], NC_000022.11:g.19052415CA[16], NC_000022.11:g.19052415CA[17], NC_000022.11:g.19052415CA[18], NC_000022.11:g.19052415CA[19], NC_000022.11:g.19052415CA[20], NC_000022.11:g.19052415CA[21], NC_000022.11:g.19052415CA[22], NC_000022.11:g.19052415CA[23], NC_000022.10:g.19039928CA[8], NC_000022.10:g.19039928CA[9], NC_000022.10:g.19039928CA[10], NC_000022.10:g.19039928CA[11], NC_000022.10:g.19039928CA[12], NC_000022.10:g.19039928CA[14], NC_000022.10:g.19039928CA[15], NC_000022.10:g.19039928CA[16], NC_000022.10:g.19039928CA[17], NC_000022.10:g.19039928CA[18], NC_000022.10:g.19039928CA[19], NC_000022.10:g.19039928CA[20], NC_000022.10:g.19039928CA[21], NC_000022.10:g.19039928CA[22], NC_000022.10:g.19039928CA[23], NG_021333.2:g.75015TG[8], NG_021333.2:g.75015TG[9], NG_021333.2:g.75015TG[10], NG_021333.2:g.75015TG[11], NG_021333.2:g.75015TG[12], NG_021333.2:g.75015TG[14], NG_021333.2:g.75015TG[15], NG_021333.2:g.75015TG[16], NG_021333.2:g.75015TG[17], NG_021333.2:g.75015TG[18], NG_021333.2:g.75015TG[19], NG_021333.2:g.75015TG[20], NG_021333.2:g.75015TG[21], NG_021333.2:g.75015TG[22], NG_021333.2:g.75015TG[23]

Select item 14914945658.

rs1491494565 [Homo sapiens]

Variant type:: INS
Alleles:: ->GCAAAGTGAGATGCA [Show Flanks]
Chromosome:: 22:19062758 (GRCh38)
22:19050272 (GRCh37)
Canonical SPDI:: NC_000022.11:19062758::GCAAAGTGAGATGCA
Gene:: DGCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GCAAAGTGAGATGCA=0.0002/1 (Estonian)
HGVS:: NC_000022.11:g.19062758_19062759insGCAAAGTGAGATGCA, NC_000022.10:g.19050271_19050272insGCAAAGTGAGATGCA, NG_021333.2:g.64696_64697insTGCATCTCACTTTGC

Select item 14914585349.

rs1491458534 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 22:19062808 (GRCh38)
22:19050321 (GRCh37)
Canonical SPDI:: NC_000022.11:19062806:TAT:T
Gene:: DGCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000029/4 (GnomAD)
-=0.029126/108 (TWINSUK)
-=0.052413/202 (ALSPAC)
HGVS:: NC_000022.11:g.19062808_19062809del, NC_000022.10:g.19050321_19050322del, NG_021333.2:g.64647_64648del

Select item 149142603210.

rs1491426032 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 22:19062775 (GRCh38)
22:19050288 (GRCh37)
Canonical SPDI:: NC_000022.11:19062774:GC:
Gene:: DGCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000226/24 (GnomAD)
HGVS:: NC_000022.11:g.19062775_19062776del, NC_000022.10:g.19050288_19050289del, NG_021333.2:g.64679_64680del

Select item 149138653011.

rs1491386530 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AACACA [Show Flanks]
Chromosome:: 22:19052415 (GRCh38)
22:19039929 (GRCh37)
Canonical SPDI:: NC_000022.11:19052415:ACACA:ACACAAACACA
Gene:: DGCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACACAAACACA=0./0 (ALFA)
ACACAA=0.00007/2 (GnomAD)
HGVS:: NC_000022.11:g.19052416_19052420AC[2]AAACACA[1], NC_000022.10:g.19039929_19039933AC[2]AAACACA[1], NG_021333.2:g.75035_75039TG[2]TTTGTGT[1]

Select item 149138045512.

rs1491380455 has merged into rs1165827499 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:19076736 (GRCh38)
22:19064249 (GRCh37)
Canonical SPDI:: NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:19076724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DGCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.19076736_19076748del, NC_000022.11:g.19076737_19076748del, NC_000022.11:g.19076738_19076748del, NC_000022.11:g.19076739_19076748del, NC_000022.11:g.19076740_19076748del, NC_000022.11:g.19076741_19076748del, NC_000022.11:g.19076742_19076748del, NC_000022.11:g.19076743_19076748del, NC_000022.11:g.19076744_19076748del, NC_000022.11:g.19076745_19076748del, NC_000022.11:g.19076746_19076748del, NC_000022.11:g.19076747_19076748del, NC_000022.11:g.19076748del, NC_000022.11:g.19076748dup, NC_000022.11:g.19076747_19076748dup, NC_000022.11:g.19076746_19076748dup, NC_000022.11:g.19076745_19076748dup, NC_000022.11:g.19076744_19076748dup, NC_000022.11:g.19076743_19076748dup, NC_000022.11:g.19076742_19076748dup, NC_000022.11:g.19076741_19076748dup, NC_000022.11:g.19076740_19076748dup, NC_000022.11:g.19076739_19076748dup, NC_000022.11:g.19076738_19076748dup, NC_000022.11:g.19076737_19076748dup, NC_000022.11:g.19076736_19076748dup, NC_000022.11:g.19076735_19076748dup, NC_000022.11:g.19076734_19076748dup, NC_000022.11:g.19076732_19076748dup, NC_000022.11:g.19076731_19076748dup, NC_000022.11:g.19076727_19076748dup, NC_000022.10:g.19064249_19064261del, NC_000022.10:g.19064250_19064261del, NC_000022.10:g.19064251_19064261del, NC_000022.10:g.19064252_19064261del, NC_000022.10:g.19064253_19064261del, NC_000022.10:g.19064254_19064261del, NC_000022.10:g.19064255_19064261del, NC_000022.10:g.19064256_19064261del, NC_000022.10:g.19064257_19064261del, NC_000022.10:g.19064258_19064261del, NC_000022.10:g.19064259_19064261del, NC_000022.10:g.19064260_19064261del, NC_000022.10:g.19064261del, NC_000022.10:g.19064261dup, NC_000022.10:g.19064260_19064261dup, NC_000022.10:g.19064259_19064261dup, NC_000022.10:g.19064258_19064261dup, NC_000022.10:g.19064257_19064261dup, NC_000022.10:g.19064256_19064261dup, NC_000022.10:g.19064255_19064261dup, NC_000022.10:g.19064254_19064261dup, NC_000022.10:g.19064253_19064261dup, NC_000022.10:g.19064252_19064261dup, NC_000022.10:g.19064251_19064261dup, NC_000022.10:g.19064250_19064261dup, NC_000022.10:g.19064249_19064261dup, NC_000022.10:g.19064248_19064261dup, NC_000022.10:g.19064247_19064261dup, NC_000022.10:g.19064245_19064261dup, NC_000022.10:g.19064244_19064261dup, NC_000022.10:g.19064240_19064261dup, NG_021333.2:g.50718_50730del, NG_021333.2:g.50719_50730del, NG_021333.2:g.50720_50730del, NG_021333.2:g.50721_50730del, NG_021333.2:g.50722_50730del, NG_021333.2:g.50723_50730del, NG_021333.2:g.50724_50730del, NG_021333.2:g.50725_50730del, NG_021333.2:g.50726_50730del, NG_021333.2:g.50727_50730del, NG_021333.2:g.50728_50730del, NG_021333.2:g.50729_50730del, NG_021333.2:g.50730del, NG_021333.2:g.50730dup, NG_021333.2:g.50729_50730dup, NG_021333.2:g.50728_50730dup, NG_021333.2:g.50727_50730dup, NG_021333.2:g.50726_50730dup, NG_021333.2:g.50725_50730dup, NG_021333.2:g.50724_50730dup, NG_021333.2:g.50723_50730dup, NG_021333.2:g.50722_50730dup, NG_021333.2:g.50721_50730dup, NG_021333.2:g.50720_50730dup, NG_021333.2:g.50719_50730dup, NG_021333.2:g.50718_50730dup, NG_021333.2:g.50717_50730dup, NG_021333.2:g.50716_50730dup, NG_021333.2:g.50714_50730dup, NG_021333.2:g.50713_50730dup, NG_021333.2:g.50709_50730dup

Select item 149136580513.

rs1491365805 [Homo sapiens]

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

Select item 149133972014.

rs1491339720 has merged into rs35578082 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 22:19075458 (GRCh38)
22:19062971 (GRCh37)
Canonical SPDI:: NC_000022.11:19075446:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:19075446:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:19075446:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:19075446:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:19075446:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: DGCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.00097/4 (1000Genomes)
A=0.05892/35 (NorthernSweden)
A=0.075/3 (GENOME_DK)
HGVS:: NC_000022.11:g.19075458_19075459del, NC_000022.11:g.19075459del, NC_000022.11:g.19075459dup, NC_000022.11:g.19075458_19075459dup, NC_000022.11:g.19075457_19075459dup, NC_000022.10:g.19062971_19062972del, NC_000022.10:g.19062972del, NC_000022.10:g.19062972dup, NC_000022.10:g.19062971_19062972dup, NC_000022.10:g.19062970_19062972dup, NG_021333.2:g.52007_52008del, NG_021333.2:g.52008del, NG_021333.2:g.52008dup, NG_021333.2:g.52007_52008dup, NG_021333.2:g.52006_52008dup

Select item 149129520815.

rs1491295208 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 22:19104905 (GRCh38)
22:19092418 (GRCh37)
Canonical SPDI:: NC_000022.11:19104902:GAGA:GA
Gene:: DGCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000022.11:g.19104903GA[1], NC_000022.10:g.19092416GA[1], NG_021333.2:g.22549TC[1]

Select item 149129215516.

rs1491292155 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 22:19072890 (GRCh38)
22:19060403 (GRCh37)
Canonical SPDI:: NC_000022.11:19072889:AT:
Gene:: DGCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000447/2 (ALFA)
-=0.000086/12 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000022.11:g.19072890_19072891del, NC_000022.10:g.19060403_19060404del, NG_021333.2:g.54564_54565del

Select item 149128202217.

rs1491282022 has merged into rs553634878 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACACA [Show Flanks]
Chromosome:: 22:19062762 (GRCh38)
22:19050275 (GRCh37)
Canonical SPDI:: NC_000022.11:19062757:CACACACACACA:CACA,NC_000022.11:19062757:CACACACACACA:CACACA,NC_000022.11:19062757:CACACACACACA:CACACACA,NC_000022.11:19062757:CACACACACACA:CACACACACA,NC_000022.11:19062757:CACACACACACA:CACACACACACACA,NC_000022.11:19062757:CACACACACACA:CACACACACACACACA,NC_000022.11:19062757:CACACACACACA:CACACACACACACACACACA
Gene:: DGCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.001597/8 (1000Genomes)
-=0.001639/3 (Korea1K)
-=0.004227/18 (Estonian)
-=0.011667/7 (NorthernSweden)
HGVS:: NC_000022.11:g.19062758CA[2], NC_000022.11:g.19062758CA[3], NC_000022.11:g.19062758CA[4], NC_000022.11:g.19062758CA[5], NC_000022.11:g.19062758CA[7], NC_000022.11:g.19062758CA[8], NC_000022.11:g.19062758CA[10], NC_000022.10:g.19050271CA[2], NC_000022.10:g.19050271CA[3], NC_000022.10:g.19050271CA[4], NC_000022.10:g.19050271CA[5], NC_000022.10:g.19050271CA[7], NC_000022.10:g.19050271CA[8], NC_000022.10:g.19050271CA[10], NG_021333.2:g.64686TG[2], NG_021333.2:g.64686TG[3], NG_021333.2:g.64686TG[4], NG_021333.2:g.64686TG[5], NG_021333.2:g.64686TG[7], NG_021333.2:g.64686TG[8], NG_021333.2:g.64686TG[10]

Select item 149126199518.

rs1491261995 has merged into rs965432090 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 22:19072891 (GRCh38)
22:19060404 (GRCh37)
Canonical SPDI:: NC_000022.11:19072890:TTTTTTTTT:TTTTTTTT,NC_000022.11:19072890:TTTTTTTTT:TTTTTTTTTT
Gene:: DGCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.001409/373 (TOPMED)
-=0.001667/1 (NorthernSweden)
-=0.002008/280 (GnomAD)
HGVS:: NC_000022.11:g.19072899del, NC_000022.11:g.19072899dup, NC_000022.10:g.19060412del, NC_000022.10:g.19060412dup, NG_021333.2:g.54564del, NG_021333.2:g.54564dup

Select item 149125874019.

rs1491258740 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>-,TCGCGCTCTCGCTCTCTCTCTCTC,TCGCGCTCTCGCTCTCTCTGTCTCTCTCTC,TCGCTCGCTCTC,TCGCTCGCTCTCTCTCTCTCTC,TCGCTCTC,TCGCTCTCTC,TCGCTCTCTCTCTCTCTCTCTCCTCTCCCTC,TCGCTCTCTCTCTCTCTCTCTCTC,TCGCTCTCTCTCTCTCTCTCTCTCTC,TCGCTCTCTCTCTCTCTCTCTCTCTCTC,TCGCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTC,TCTCGCTCTC,TCTCGCTCTCTC,TCTCGCTCTCTCTC,TCTCGCTCTCTCTCTC,TCTCGCTCTCTCTCTCTCTCTC,TCTCGCTCTCTCTCTCTCTCTCTC,TCTCGCTCTCTCTCTCTCTCTCTCTC,TCTCGCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTC,TCTCTCTC,TCTCTCTCTC,TCTCTCTCTCCTCTCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTC,TCTCTCTCTCTCTCCTCTC,TCTCTCTCTCTCTCCTCTCTCTCTCTC,TCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTTCTCTCTTCTCTCTTCTCTC,TCTCTCTCTCTTCTCTCTTCTCTCTTCTCTCTC,TCTCTCTCTCTTCTCTCTTCTCTCTTCTCTCTCTC,TCTCTCTCTCTTCTCTCTTCTCTCTTCTCTCTCTCTCTCTC,TCTCTCTCTTCTCTCTTCTCTCTTCTCTCCTC,TCTCTCTGTCTGTCTCTCTCTCTCTCTCTCTCTCTC [Show Flanks]
Chromosome:: 22:19062777 (GRCh38)
22:19050290 (GRCh37)
Canonical SPDI:: NC_000022.11:19062775:CTC:C,NC_000022.11:19062775:CTC:CTCGCGCTCTCGCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCGCGCTCTCGCTCTCTCTGTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCGCTCGCTCTC,NC_000022.11:19062775:CTC:CTCGCTCGCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCGCTCTC,NC_000022.11:19062775:CTC:CTCGCTCTCTC,NC_000022.11:19062775:CTC:CTCGCTCTCTCTCTCTCTCTCTCCTCTCCCTC,NC_000022.11:19062775:CTC:CTCGCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCGCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCGCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCGCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTC,NC_000022.11:19062775:CTC:CTCTCGCTCTC,NC_000022.11:19062775:CTC:CTCTCGCTCTCTC,NC_000022.11:19062775:CTC:CTCTCGCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCGCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCGCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCGCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCGCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCGCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTTCTCTCTTCTCTCTTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTTCTCTCTTCTCTCTTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTTCTCTCTTCTCTCTTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTCTTCTCTCTTCTCTCTTCTCTCTCTCTCTCTC,NC_000022.11:19062775:CTC:CTCTCTCTCTTCTCTCTTCTCTCTTCTCTCCTC,NC_000022.11:19062775:CTC:CTCTCTCTGTCTGTCTCTCTCTCTCTCTCTCTCTCTC
Gene:: DGCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCGCTCTCTC=0./0 (ALFA)
HGVS:: NC_000022.11:g.19062777_19062778del, NC_000022.11:g.19062778_19062779insGCGCTCTCGCTCTCTCTCTCTC, NC_000022.11:g.19062778_19062779insGCGCTCTCGCTCTCTCTGTCTCTCTCTC, NC_000022.11:g.19062776_19062778CTCG[2]CT[2]C[1], NC_000022.11:g.19062776_19062778CTCG[2]CT[7]C[1], NC_000022.11:g.19062778_19062779insGCTCTC, NC_000022.11:g.19062778_19062779insGCTCTCTC, NC_000022.11:g.19062778_19062779insGCTCTCTCTCTCTCTCTCTCCTCTCCCTC, NC_000022.11:g.19062778_19062779insGCTCTCTCTCTCTCTCTCTCTC, NC_000022.11:g.19062778_19062779insGCTCTCTCTCTCTCTCTCTCTCTC, NC_000022.11:g.19062778_19062779insGCTCTCTCTCTCTCTCTCTCTCTCTC, NC_000022.11:g.19062778_19062779insGCTCTCTCTCTCTCTCTCTCTCTCTCTC, NC_000022.11:g.19062778_19062779insGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC, NC_000022.11:g.19062778_19062779insGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC, NC_000022.11:g.19062778_19062779insGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC, NC_000022.11:g.19062777_19062778dup, NC_000022.11:g.19062776_19062778CT[2]CGCTCTC[1], NC_000022.11:g.19062776_19062778CT[2]CGCTCTCTC[1], NC_000022.11:g.19062776_19062778CT[2]CGCTCTCTCTC[1], NC_000022.11:g.19062776_19062778CT[2]CGCTCTCTCTCTC[1], NC_000022.11:g.19062776_19062778CT[2]CGCTCTCTCTCTCTCTCTC[1], NC_000022.11:g.19062776_19062778CT[2]CGCTCTCTCTCTCTCTCTCTC[1], NC_000022.11:g.19062776_19062778CT[2]CGCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.11:g.19062776_19062778CT[2]CGCTCTCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.11:g.19062776_19062778CT[2]CGCTCTCTCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.11:g.19062776_19062778CT[2]CGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.11:g.19062776_19062778CT[2]CGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.11:g.19062776_19062778CT[2]CGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.11:g.19062776_19062778CT[2]CGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.11:g.19062776_19062778CT[2]CGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.11:g.19062776_19062778CT[2]CGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.11:g.19062777TC[3], NC_000022.11:g.19062777TC[4], NC_000022.11:g.19062777TC[5], NC_000022.11:g.19062778_19062779insTCTCTCTCCTCTCTCTCTC, NC_000022.11:g.19062777TC[6], NC_000022.11:g.19062777TC[7], NC_000022.11:g.19062776_19062778CT[7]CCTCTC[1], NC_000022.11:g.19062776_19062778CT[7]CCTCTCTCTCTCTC[1], NC_000022.11:g.19062777TC[8], NC_000022.11:g.19062777TC[9], NC_000022.11:g.19062777TC[10], NC_000022.11:g.19062777TC[11], NC_000022.11:g.19062777TC[12], NC_000022.11:g.19062777TC[13], NC_000022.11:g.19062777TC[14], NC_000022.11:g.19062777TC[15], NC_000022.11:g.19062777TC[16], NC_000022.11:g.19062777TC[17], NC_000022.11:g.19062777TC[18], NC_000022.11:g.19062777TC[19], NC_000022.11:g.19062777TC[20], NC_000022.11:g.19062777TC[21], NC_000022.11:g.19062777TC[22], NC_000022.11:g.19062777TC[23], NC_000022.11:g.19062777TC[24], NC_000022.11:g.19062776_19062778CT[6]TCTCTCT[2]TC[3], NC_000022.11:g.19062776_19062778CT[6]TCTCTCT[3]C[1], NC_000022.11:g.19062776_19062778CT[6]TCTCTCT[3]CTC[1], NC_000022.11:g.19062776_19062778CT[6]TCTCTCT[3]CT[4]C[1], NC_000022.11:g.19062776_19062778CT[5]TCTCTCT[2]TC[3]CTC[1], NC_000022.11:g.19062776_19062778CT[4]GTCT[2]CT[10]C[1], NC_000022.10:g.19050290_19050291del, NC_000022.10:g.19050291_19050292insGCGCTCTCGCTCTCTCTCTCTC, NC_000022.10:g.19050291_19050292insGCGCTCTCGCTCTCTCTGTCTCTCTCTC, NC_000022.10:g.19050289_19050291CTCG[2]CT[2]C[1], NC_000022.10:g.19050289_19050291CTCG[2]CT[7]C[1], NC_000022.10:g.19050291_19050292insGCTCTC, NC_000022.10:g.19050291_19050292insGCTCTCTC, NC_000022.10:g.19050291_19050292insGCTCTCTCTCTCTCTCTCTCCTCTCCCTC, NC_000022.10:g.19050291_19050292insGCTCTCTCTCTCTCTCTCTCTC, NC_000022.10:g.19050291_19050292insGCTCTCTCTCTCTCTCTCTCTCTC, NC_000022.10:g.19050291_19050292insGCTCTCTCTCTCTCTCTCTCTCTCTC, NC_000022.10:g.19050291_19050292insGCTCTCTCTCTCTCTCTCTCTCTCTCTC, NC_000022.10:g.19050291_19050292insGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC, NC_000022.10:g.19050291_19050292insGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC, NC_000022.10:g.19050291_19050292insGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC, NC_000022.10:g.19050290_19050291dup, NC_000022.10:g.19050289_19050291CT[2]CGCTCTC[1], NC_000022.10:g.19050289_19050291CT[2]CGCTCTCTC[1], NC_000022.10:g.19050289_19050291CT[2]CGCTCTCTCTC[1], NC_000022.10:g.19050289_19050291CT[2]CGCTCTCTCTCTC[1], NC_000022.10:g.19050289_19050291CT[2]CGCTCTCTCTCTCTCTCTC[1], NC_000022.10:g.19050289_19050291CT[2]CGCTCTCTCTCTCTCTCTCTC[1], NC_000022.10:g.19050289_19050291CT[2]CGCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.10:g.19050289_19050291CT[2]CGCTCTCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.10:g.19050289_19050291CT[2]CGCTCTCTCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.10:g.19050289_19050291CT[2]CGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.10:g.19050289_19050291CT[2]CGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.10:g.19050289_19050291CT[2]CGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.10:g.19050289_19050291CT[2]CGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.10:g.19050289_19050291CT[2]CGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.10:g.19050289_19050291CT[2]CGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC[1], NC_000022.10:g.19050290TC[3], NC_000022.10:g.19050290TC[4], NC_000022.10:g.19050290TC[5], NC_000022.10:g.19050291_19050292insTCTCTCTCCTCTCTCTCTC, NC_000022.10:g.19050290TC[6], NC_000022.10:g.19050290TC[7], NC_000022.10:g.19050289_19050291CT[7]CCTCTC[1], NC_000022.10:g.19050289_19050291CT[7]CCTCTCTCTCTCTC[1], NC_000022.10:g.19050290TC[8], NC_000022.10:g.19050290TC[9], NC_000022.10:g.19050290TC[10], NC_000022.10:g.19050290TC[11], NC_000022.10:g.19050290TC[12], NC_000022.10:g.19050290TC[13], NC_000022.10:g.19050290TC[14], NC_000022.10:g.19050290TC[15], NC_000022.10:g.19050290TC[16], NC_000022.10:g.19050290TC[17], NC_000022.10:g.19050290TC[18], NC_000022.10:g.19050290TC[19], NC_000022.10:g.19050290TC[20], NC_000022.10:g.19050290TC[21], NC_000022.10:g.19050290TC[22], NC_000022.10:g.19050290TC[23], NC_000022.10:g.19050290TC[24], NC_000022.10:g.19050289_19050291CT[6]TCTCTCT[2]TC[3], NC_000022.10:g.19050289_19050291CT[6]TCTCTCT[3]C[1], NC_000022.10:g.19050289_19050291CT[6]TCTCTCT[3]CTC[1], NC_000022.10:g.19050289_19050291CT[6]TCTCTCT[3]CT[4]C[1], NC_000022.10:g.19050289_19050291CT[5]TCTCTCT[2]TC[3]CTC[1], NC_000022.10:g.19050289_19050291CT[4]GTCT[2]CT[10]C[1], NG_021333.2:g.64678_64679del, NG_021333.2:g.64677_64679GA[6]GCGAGAGCGCGAG[1], NG_021333.2:g.64677_64679GA[5]CAGAGAGAGCGAGAGCGCGAG[1], NG_021333.2:g.64677_64679GA[2]GCGA[2]G[1], NG_021333.2:g.64677_64679GA[7]GCGA[2]G[1], NG_021333.2:g.64677_64679GA[2]GCGAG[1], NG_021333.2:g.64677_64679GA[3]GCGAG[1], NG_021333.2:g.64679_64680insGGAGAGGAGAGAGAGAGAGAGAGAGCGAG, NG_021333.2:g.64677_64679GA[10]GCGAG[1], NG_021333.2:g.64677_64679GA[11]GCGAG[1], NG_021333.2:g.64677_64679GA[12]GCGAG[1], NG_021333.2:g.64677_64679GA[13]GCGAG[1], NG_021333.2:g.64677_64679GA[15]GCGAG[1], NG_021333.2:g.64677_64679GA[17]GCGAG[1], NG_021333.2:g.64677_64679GA[19]GCGAG[1], NG_021333.2:g.64678_64679dup, NG_021333.2:g.64677_64679GA[2]GCGAGAG[1], NG_021333.2:g.64677_64679GA[3]GCGAGAG[1], NG_021333.2:g.64677_64679GA[4]GCGAGAG[1], NG_021333.2:g.64677_64679GA[5]GCGAGAG[1], NG_021333.2:g.64677_64679GA[8]GCGAGAG[1], NG_021333.2:g.64677_64679GA[9]GCGAGAG[1], NG_021333.2:g.64677_64679GA[10]GCGAGAG[1], NG_021333.2:g.64677_64679GA[12]GCGAGAG[1], NG_021333.2:g.64677_64679GA[13]GCGAGAG[1], NG_021333.2:g.64677_64679GA[16]GCGAGAG[1], NG_021333.2:g.64677_64679GA[18]GCGAGAG[1], NG_021333.2:g.64677_64679GA[19]GCGAGAG[1], NG_021333.2:g.64677_64679GA[20]GCGAGAG[1], NG_021333.2:g.64677_64679GA[23]GCGAGAG[1], NG_021333.2:g.64677_64679GA[24]GCGAGAG[1], NG_021333.2:g.64678AG[3], NG_021333.2:g.64678AG[4], NG_021333.2:g.64678AG[5], NG_021333.2:g.64679_64680insAGAGAGAGGAGAGAGAGAG, NG_021333.2:g.64678AG[6], NG_021333.2:g.64678AG[7], NG_021333.2:g.64677_64679GAGAG[2]AG[5], NG_021333.2:g.64677_64679GAGAGAGAGAGAG[2]AG[1], NG_021333.2:g.64678AG[8], NG_021333.2:g.64678AG[9], NG_021333.2:g.64678AG[10], NG_021333.2:g.64678AG[11], NG_021333.2:g.64678AG[12], NG_021333.2:g.64678AG[13], NG_021333.2:g.64678AG[14], NG_021333.2:g.64678AG[15], NG_021333.2:g.64678AG[16], NG_021333.2:g.64678AG[17], NG_021333.2:g.64678AG[18], NG_021333.2:g.64678AG[19], NG_021333.2:g.64678AG[20], NG_021333.2:g.64678AG[21], NG_021333.2:g.64678AG[22], NG_021333.2:g.64678AG[23], NG_021333.2:g.64678AG[24], NG_021333.2:g.64677_64679GAGAGAA[3]GA[5]G[1], NG_021333.2:g.64677_64679GA[4]AGAGAGA[3]GA[2]G[1], NG_021333.2:g.64677_64679GA[5]AGAGAGA[3]GA[2]G[1], NG_021333.2:g.64677_64679GA[8]AGAGAGA[3]GA[2]G[1], NG_021333.2:g.64677_64679GAG[2]AGAAGAG[3]AG[3], NG_021333.2:g.64677_64679GA[12]CAGA[2]GA[2]G[1]

Select item 149117580820.

rs1491175808 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 22:19076748 (GRCh38)
22:19064261 (GRCh37)
Canonical SPDI:: NC_000022.11:19076747:TG:
Gene:: DGCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.19076748_19076749del, NC_000022.10:g.19064261_19064262del, NG_021333.2:g.50706_50707del

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