SNP Links for Gene (Select 653857) - SNP

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Select item 14915751411.

rs1491575141 has merged into rs113129648 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:150029406 (GRCh38)
7:149726495 (GRCh37)
Canonical SPDI:: NC_000007.14:150029403:AAAAAAAAAAAAAA:AA,NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:150029403:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ACTR3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.00118/18 (TOMMO)
HGVS:: NC_000007.14:g.150029406_150029417del, NC_000007.14:g.150029416_150029417del, NC_000007.14:g.150029417del, NC_000007.14:g.150029417dup, NC_000007.14:g.150029416_150029417dup, NC_000007.14:g.150029415_150029417dup, NC_000007.14:g.150029411_150029417dup, NC_000007.14:g.150029407_150029417dup, NC_000007.13:g.149726495_149726506del, NC_000007.13:g.149726505_149726506del, NC_000007.13:g.149726506del, NC_000007.13:g.149726506dup, NC_000007.13:g.149726505_149726506dup, NC_000007.13:g.149726504_149726506dup, NC_000007.13:g.149726500_149726506dup, NC_000007.13:g.149726496_149726506dup

Select item 14915633192.

rs1491563319 has merged into rs1015394512 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTATATATATGTGTGTATGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 7:150163358 (GRCh38)
7:149860447 (GRCh37)
Canonical SPDI:: NC_000007.14:150163352:TGTGTGTGTGTGT:TGTGT,NC_000007.14:150163352:TGTGTGTGTGTGT:TGTGTGT,NC_000007.14:150163352:TGTGTGTGTGTGT:TGTGTGTGT,NC_000007.14:150163352:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000007.14:150163352:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000007.14:150163352:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTATATATATGTGTGTATGTGTGTGTGTGTGTGTGT
Gene:: ACTR3C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.150163354GT[2], NC_000007.14:g.150163354GT[3], NC_000007.14:g.150163354GT[4], NC_000007.14:g.150163354GT[5], NC_000007.14:g.150163354GT[7], NC_000007.14:g.150163353_150163365TG[7]TA[4]TG[3]TATGTGTGTGTGTGTGTGTGT[1], NC_000007.13:g.149860443GT[2], NC_000007.13:g.149860443GT[3], NC_000007.13:g.149860443GT[4], NC_000007.13:g.149860443GT[5], NC_000007.13:g.149860443GT[7], NC_000007.13:g.149860442_149860454TG[7]TA[4]TG[3]TATGTGTGTGTGTGTGTGTGT[1]

Select item 14915580183.

rs1491558018 has merged into rs745713614 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:150255254 (GRCh38)
7:149952343 (GRCh37)
Canonical SPDI:: NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:150255242:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ACTR3C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTT=0./0 (GENOME_DK)
HGVS:: NC_000007.14:g.150255254_150255267del, NC_000007.14:g.150255255_150255267del, NC_000007.14:g.150255256_150255267del, NC_000007.14:g.150255257_150255267del, NC_000007.14:g.150255258_150255267del, NC_000007.14:g.150255259_150255267del, NC_000007.14:g.150255260_150255267del, NC_000007.14:g.150255261_150255267del, NC_000007.14:g.150255262_150255267del, NC_000007.14:g.150255263_150255267del, NC_000007.14:g.150255264_150255267del, NC_000007.14:g.150255265_150255267del, NC_000007.14:g.150255266_150255267del, NC_000007.14:g.150255267del, NC_000007.14:g.150255267dup, NC_000007.14:g.150255266_150255267dup, NC_000007.14:g.150255265_150255267dup, NC_000007.14:g.150255264_150255267dup, NC_000007.14:g.150255263_150255267dup, NC_000007.14:g.150255262_150255267dup, NC_000007.14:g.150255261_150255267dup, NC_000007.14:g.150255260_150255267dup, NC_000007.14:g.150255259_150255267dup, NC_000007.14:g.150255258_150255267dup, NC_000007.14:g.150255257_150255267dup, NC_000007.14:g.150255253_150255267dup, NC_000007.14:g.150255252_150255267dup, NC_000007.14:g.150255250_150255267dup, NC_000007.14:g.150255249_150255267dup, NC_000007.14:g.150255248_150255267dup, NC_000007.14:g.150255247_150255267dup, NC_000007.14:g.150255246_150255267dup, NC_000007.14:g.150255244_150255267dup, NC_000007.14:g.150255243_150255267dup, NC_000007.14:g.150255267_150255268insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.150255267_150255268insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.150255267_150255268insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.150255267_150255268insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.149952343_149952356del, NC_000007.13:g.149952344_149952356del, NC_000007.13:g.149952345_149952356del, NC_000007.13:g.149952346_149952356del, NC_000007.13:g.149952347_149952356del, NC_000007.13:g.149952348_149952356del, NC_000007.13:g.149952349_149952356del, NC_000007.13:g.149952350_149952356del, NC_000007.13:g.149952351_149952356del, NC_000007.13:g.149952352_149952356del, NC_000007.13:g.149952353_149952356del, NC_000007.13:g.149952354_149952356del, NC_000007.13:g.149952355_149952356del, NC_000007.13:g.149952356del, NC_000007.13:g.149952356dup, NC_000007.13:g.149952355_149952356dup, NC_000007.13:g.149952354_149952356dup, NC_000007.13:g.149952353_149952356dup, NC_000007.13:g.149952352_149952356dup, NC_000007.13:g.149952351_149952356dup, NC_000007.13:g.149952350_149952356dup, NC_000007.13:g.149952349_149952356dup, NC_000007.13:g.149952348_149952356dup, NC_000007.13:g.149952347_149952356dup, NC_000007.13:g.149952346_149952356dup, NC_000007.13:g.149952342_149952356dup, NC_000007.13:g.149952341_149952356dup, NC_000007.13:g.149952339_149952356dup, NC_000007.13:g.149952338_149952356dup, NC_000007.13:g.149952337_149952356dup, NC_000007.13:g.149952336_149952356dup, NC_000007.13:g.149952335_149952356dup, NC_000007.13:g.149952333_149952356dup, NC_000007.13:g.149952332_149952356dup, NC_000007.13:g.149952356_149952357insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.149952356_149952357insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.149952356_149952357insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.149952356_149952357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915456244.

rs1491545624 has merged into rs1157881541 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 7:150209932 (GRCh38)
7:149907021 (GRCh37)
Canonical SPDI:: NC_000007.14:150209918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:150209918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:150209918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:150209918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:150209918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:150209918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:150209918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:150209918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: ACTR3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.150209932_150209936del, NC_000007.14:g.150209933_150209936del, NC_000007.14:g.150209934_150209936del, NC_000007.14:g.150209935_150209936del, NC_000007.14:g.150209936del, NC_000007.14:g.150209936dup, NC_000007.14:g.150209935_150209936dup, NC_000007.14:g.150209934_150209936dup, NC_000007.13:g.149907021_149907025del, NC_000007.13:g.149907022_149907025del, NC_000007.13:g.149907023_149907025del, NC_000007.13:g.149907024_149907025del, NC_000007.13:g.149907025del, NC_000007.13:g.149907025dup, NC_000007.13:g.149907024_149907025dup, NC_000007.13:g.149907023_149907025dup

Select item 14915423935.

rs1491542393 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACAT,AT [Show Flanks]
Chromosome:: 7:150194023 (GRCh38)
7:149891113 (GRCh37)
Canonical SPDI:: NC_000007.14:150194023::ACAT,NC_000007.14:150194023::AT
Gene:: ACTR3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
AT=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.150194023_150194024insACAT, NC_000007.14:g.150194023_150194024insAT, NC_000007.13:g.149891112_149891113insACAT, NC_000007.13:g.149891112_149891113insAT

Select item 14915382296.

rs1491538229 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CCC,CCCTCTCTCTC,CTC,CTCTC,CTCTCTC,CTCTCTCTC,CTCTCTCTCTC,CTCTCTCTCTCTC,G [Show Flanks]
Chromosome:: 7:149907473 (GRCh38)
7:149604563 (GRCh37)
Canonical SPDI:: NC_000007.14:149907473::C,NC_000007.14:149907473::CCC,NC_000007.14:149907473::CCCTCTCTCTC,NC_000007.14:149907473::CTC,NC_000007.14:149907473::CTCTC,NC_000007.14:149907473::CTCTCTC,NC_000007.14:149907473::CTCTCTCTC,NC_000007.14:149907473::CTCTCTCTCTC,NC_000007.14:149907473::CTCTCTCTCTCTC,NC_000007.14:149907473::G
Gene:: ACTR3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
C=0.00011/2 (TOMMO)
C=0.00673/4 (NorthernSweden)
HGVS:: NC_000007.14:g.149907473_149907474insC, NC_000007.14:g.149907473_149907474insCCC, NC_000007.14:g.149907473_149907474insCCCTCTCTCTC, NC_000007.14:g.149907473_149907474insCTC, NC_000007.14:g.149907473_149907474insCTCTC, NC_000007.14:g.149907473_149907474insCTCTCTC, NC_000007.14:g.149907473_149907474insCTCTCTCTC, NC_000007.14:g.149907473_149907474insCTCTCTCTCTC, NC_000007.14:g.149907473_149907474insCTCTCTCTCTCTC, NC_000007.14:g.149907473_149907474insG, NC_000007.13:g.149604562_149604563insC, NC_000007.13:g.149604562_149604563insCCC, NC_000007.13:g.149604562_149604563insCCCTCTCTCTC, NC_000007.13:g.149604562_149604563insCTC, NC_000007.13:g.149604562_149604563insCTCTC, NC_000007.13:g.149604562_149604563insCTCTCTC, NC_000007.13:g.149604562_149604563insCTCTCTCTC, NC_000007.13:g.149604562_149604563insCTCTCTCTCTC, NC_000007.13:g.149604562_149604563insCTCTCTCTCTCTC, NC_000007.13:g.149604562_149604563insG

Select item 14915359757.

rs1491535975 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:150036112 (GRCh38)
7:149733201 (GRCh37)
Canonical SPDI:: NC_000007.14:150036111:AG:
Gene:: ACTR3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.150036112_150036113del, NC_000007.13:g.149733201_149733202del

Select item 14915287288.

rs1491528728 [Homo sapiens]

Variant type:: INS
Alleles:: ->GA,GAC,GACA [Show Flanks]
Chromosome:: 7:150273284 (GRCh38)
7:149970374 (GRCh37)
Canonical SPDI:: NC_000007.14:150273284::GA,NC_000007.14:150273284::GAC,NC_000007.14:150273284::GACA
Gene:: ACTR3C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAC=0.00362/59 (ALFA)
HGVS:: NC_000007.14:g.150273284_150273285insGA, NC_000007.14:g.150273284_150273285insGAC, NC_000007.14:g.150273284_150273285insGACA, NC_000007.13:g.149970373_149970374insGA, NC_000007.13:g.149970373_149970374insGAC, NC_000007.13:g.149970373_149970374insGACA

Select item 14915137019.

rs1491513701 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:149959228 (GRCh38)
7:149656318 (GRCh37)
Canonical SPDI:: NC_000007.14:149959228:A:AA
Gene:: ACTR3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000007.14:g.149959229dup, NC_000007.13:g.149656318dup

Select item 149151290510.

rs1491512905 [Homo sapiens]

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

Select item 149150215311.

rs1491502153 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 7:149904508 (GRCh38)
7:149601597 (GRCh37)
Canonical SPDI:: NC_000007.14:149904507:GC:
Gene:: ACTR3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.149904508_149904509del, NC_000007.13:g.149601597_149601598del

Select item 149149945612.

rs1491499456 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:150116718 (GRCh38)
7:149813807 (GRCh37)
Canonical SPDI:: NC_000007.14:150116717:AT:
Gene:: ACTR3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.002939/48 (ALFA)
-=0.000106/2 (TOMMO)
-=0.001348/5 (TWINSUK)
-=0.001816/7 (ALSPAC)
-=0.002116/295 (GnomAD)
HGVS:: NC_000007.14:g.150116718_150116719del, NC_000007.13:g.149813807_149813808del

Select item 149149663313.

rs1491496633 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:150035149 (GRCh38)
7:149732239 (GRCh37)
Canonical SPDI:: NC_000007.14:150035149::C
Gene:: ACTR3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.150035149_150035150insC, NC_000007.13:g.149732238_149732239insC

Select item 149148337014.

rs1491483370 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:150297851 (GRCh38)
7:149994940 (GRCh37)
Canonical SPDI:: NC_000007.14:150297850:CA:
Gene:: ACTR3C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00059/7 (ALFA)
HGVS:: NC_000007.14:g.150297851_150297852del, NC_000007.13:g.149994940_149994941del

Select item 149147834015.

rs1491478340 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C,CTC [Show Flanks]
Chromosome:: 7:150036079 (GRCh38)
7:149733169 (GRCh37)
Canonical SPDI:: NC_000007.14:150036079:C:CC,NC_000007.14:150036079:C:CCTC
Gene:: ACTR3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTC=0./0 (ALFA)
C=0.00004/2 (GnomAD)
HGVS:: NC_000007.14:g.150036080dup, NC_000007.14:g.150036080_150036081insCTC, NC_000007.13:g.149733169dup, NC_000007.13:g.149733169_149733170insCTC

Select item 149146248816.

rs1491462488 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 7:150029404 (GRCh38)
7:149726494 (GRCh37)
Canonical SPDI:: NC_000007.14:150029404:A:ACA
Gene:: ACTR3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000007.14:g.150029405_150029406insCA, NC_000007.13:g.149726494_149726495insCA

Select item 149146172617.

rs1491461726 has merged into rs1175868519 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA [Show Flanks]
Chromosome:: 7:150280825 (GRCh38)
7:149977914 (GRCh37)
Canonical SPDI:: NC_000007.14:150280818:TATATATATATA:TATATA,NC_000007.14:150280818:TATATATATATA:TATATATA,NC_000007.14:150280818:TATATATATATA:TATATATATA,NC_000007.14:150280818:TATATATATATA:TATATATATATATA,NC_000007.14:150280818:TATATATATATA:TATATATATATATATA,NC_000007.14:150280818:TATATATATATA:TATATATATATATATATA,NC_000007.14:150280818:TATATATATATA:TATATATATATATATATATA
Gene:: ACTR3C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATA=0./0 (ALFA)
TA=0.00006/1 (TOMMO)
-=0.00109/2 (Korea1K)
HGVS:: NC_000007.14:g.150280819TA[3], NC_000007.14:g.150280819TA[4], NC_000007.14:g.150280819TA[5], NC_000007.14:g.150280819TA[7], NC_000007.14:g.150280819TA[8], NC_000007.14:g.150280819TA[9], NC_000007.14:g.150280819TA[10], NC_000007.13:g.149977908TA[3], NC_000007.13:g.149977908TA[4], NC_000007.13:g.149977908TA[5], NC_000007.13:g.149977908TA[7], NC_000007.13:g.149977908TA[8], NC_000007.13:g.149977908TA[9], NC_000007.13:g.149977908TA[10]

Select item 149146068118.

rs1491460681 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:150180528 (GRCh38)
7:149877618 (GRCh37)
Canonical SPDI:: NC_000007.14:150180528:C:CC
Gene:: ACTR3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.007156/955 (GnomAD)
HGVS:: NC_000007.14:g.150180529dup, NC_000007.13:g.149877618dup

Select item 149145443619.

rs1491454436 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACA [Show Flanks]
Chromosome:: 7:149904508 (GRCh38)
7:149601598 (GRCh37)
Canonical SPDI:: NC_000007.14:149904508:CAACA:CAACAACA
Gene:: ACTR3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CAACAACA=0./0 (ALFA)
CAA=0.000008/1 (GnomAD)
HGVS:: NC_000007.14:g.149904511_149904513dup, NC_000007.13:g.149601600_149601602dup

Select item 149145423920.

rs1491454239 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:150057276 (GRCh38)
7:149754365 (GRCh37)
Canonical SPDI:: NC_000007.14:150057275:CT:
Gene:: ACTR3C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.150057276_150057277del, NC_000007.13:g.149754365_149754366del

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