SNP Links for Gene (Select 10580) - SNP

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Select item 14915887261.

rs1491588726 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:95494080 (GRCh38)
10:97253837 (GRCh37)
Canonical SPDI:: NC_000010.11:95494079:TA:
Gene:: SORBS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01307/155 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00079/12 (GnomAD)
HGVS:: NC_000010.11:g.95494080_95494081del, NC_000010.10:g.97253837_97253838del, NG_034041.1:g.72340_72341del

Select item 14915864022.

rs1491586402 has merged into rs10595546 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:95401383 (GRCh38)
10:97161140 (GRCh37)
Canonical SPDI:: NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SORBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.95401383_95401392del, NC_000010.11:g.95401384_95401392del, NC_000010.11:g.95401385_95401392del, NC_000010.11:g.95401386_95401392del, NC_000010.11:g.95401387_95401392del, NC_000010.11:g.95401388_95401392del, NC_000010.11:g.95401389_95401392del, NC_000010.11:g.95401390_95401392del, NC_000010.11:g.95401391_95401392del, NC_000010.11:g.95401392del, NC_000010.11:g.95401392dup, NC_000010.11:g.95401391_95401392dup, NC_000010.11:g.95401390_95401392dup, NC_000010.11:g.95401389_95401392dup, NC_000010.11:g.95401388_95401392dup, NC_000010.11:g.95401392_95401393insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.97161140_97161149del, NC_000010.10:g.97161141_97161149del, NC_000010.10:g.97161142_97161149del, NC_000010.10:g.97161143_97161149del, NC_000010.10:g.97161144_97161149del, NC_000010.10:g.97161145_97161149del, NC_000010.10:g.97161146_97161149del, NC_000010.10:g.97161147_97161149del, NC_000010.10:g.97161148_97161149del, NC_000010.10:g.97161149del, NC_000010.10:g.97161149dup, NC_000010.10:g.97161148_97161149dup, NC_000010.10:g.97161147_97161149dup, NC_000010.10:g.97161146_97161149dup, NC_000010.10:g.97161145_97161149dup, NC_000010.10:g.97161149_97161150insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_034041.1:g.165040_165049del, NG_034041.1:g.165041_165049del, NG_034041.1:g.165042_165049del, NG_034041.1:g.165043_165049del, NG_034041.1:g.165044_165049del, NG_034041.1:g.165045_165049del, NG_034041.1:g.165046_165049del, NG_034041.1:g.165047_165049del, NG_034041.1:g.165048_165049del, NG_034041.1:g.165049del, NG_034041.1:g.165049dup, NG_034041.1:g.165048_165049dup, NG_034041.1:g.165047_165049dup, NG_034041.1:g.165046_165049dup, NG_034041.1:g.165045_165049dup, NG_034041.1:g.165049_165050insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915829773.

rs1491582977 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:95383415 (GRCh38)
10:97143172 (GRCh37)
Canonical SPDI:: NC_000010.11:95383414:CA:
Gene:: SORBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.95383415_95383416del, NC_000010.10:g.97143172_97143173del, NG_034041.1:g.183005_183006del

Select item 14915781794.

rs1491578179 has merged into rs10595546 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:95401383 (GRCh38)
10:97161140 (GRCh37)
Canonical SPDI:: NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95401371:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SORBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.95401383_95401392del, NC_000010.11:g.95401384_95401392del, NC_000010.11:g.95401385_95401392del, NC_000010.11:g.95401386_95401392del, NC_000010.11:g.95401387_95401392del, NC_000010.11:g.95401388_95401392del, NC_000010.11:g.95401389_95401392del, NC_000010.11:g.95401390_95401392del, NC_000010.11:g.95401391_95401392del, NC_000010.11:g.95401392del, NC_000010.11:g.95401392dup, NC_000010.11:g.95401391_95401392dup, NC_000010.11:g.95401390_95401392dup, NC_000010.11:g.95401389_95401392dup, NC_000010.11:g.95401388_95401392dup, NC_000010.11:g.95401392_95401393insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.97161140_97161149del, NC_000010.10:g.97161141_97161149del, NC_000010.10:g.97161142_97161149del, NC_000010.10:g.97161143_97161149del, NC_000010.10:g.97161144_97161149del, NC_000010.10:g.97161145_97161149del, NC_000010.10:g.97161146_97161149del, NC_000010.10:g.97161147_97161149del, NC_000010.10:g.97161148_97161149del, NC_000010.10:g.97161149del, NC_000010.10:g.97161149dup, NC_000010.10:g.97161148_97161149dup, NC_000010.10:g.97161147_97161149dup, NC_000010.10:g.97161146_97161149dup, NC_000010.10:g.97161145_97161149dup, NC_000010.10:g.97161149_97161150insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_034041.1:g.165040_165049del, NG_034041.1:g.165041_165049del, NG_034041.1:g.165042_165049del, NG_034041.1:g.165043_165049del, NG_034041.1:g.165044_165049del, NG_034041.1:g.165045_165049del, NG_034041.1:g.165046_165049del, NG_034041.1:g.165047_165049del, NG_034041.1:g.165048_165049del, NG_034041.1:g.165049del, NG_034041.1:g.165049dup, NG_034041.1:g.165048_165049dup, NG_034041.1:g.165047_165049dup, NG_034041.1:g.165046_165049dup, NG_034041.1:g.165045_165049dup, NG_034041.1:g.165049_165050insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915731915.

rs1491573191 has merged into rs67753497 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 10:95383427 (GRCh38)
10:97143184 (GRCh37)
Canonical SPDI:: NC_000010.11:95383415:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:95383415:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:95383415:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:95383415:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:95383415:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:95383415:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:95383415:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:95383415:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:95383415:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:95383415:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95383415:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: SORBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AAAAA=0.4663/2335 (1000Genomes)
HGVS:: NC_000010.11:g.95383427_95383433del, NC_000010.11:g.95383428_95383433del, NC_000010.11:g.95383429_95383433del, NC_000010.11:g.95383430_95383433del, NC_000010.11:g.95383431_95383433del, NC_000010.11:g.95383432_95383433del, NC_000010.11:g.95383433del, NC_000010.11:g.95383433dup, NC_000010.11:g.95383432_95383433dup, NC_000010.11:g.95383431_95383433dup, NC_000010.11:g.95383430_95383433dup, NC_000010.10:g.97143184_97143190del, NC_000010.10:g.97143185_97143190del, NC_000010.10:g.97143186_97143190del, NC_000010.10:g.97143187_97143190del, NC_000010.10:g.97143188_97143190del, NC_000010.10:g.97143189_97143190del, NC_000010.10:g.97143190del, NC_000010.10:g.97143190dup, NC_000010.10:g.97143189_97143190dup, NC_000010.10:g.97143188_97143190dup, NC_000010.10:g.97143187_97143190dup, NG_034041.1:g.182999_183005del, NG_034041.1:g.183000_183005del, NG_034041.1:g.183001_183005del, NG_034041.1:g.183002_183005del, NG_034041.1:g.183003_183005del, NG_034041.1:g.183004_183005del, NG_034041.1:g.183005del, NG_034041.1:g.183005dup, NG_034041.1:g.183004_183005dup, NG_034041.1:g.183003_183005dup, NG_034041.1:g.183002_183005dup

Select item 14915730306.

rs1491573030 has merged into rs58282759 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:95407957 (GRCh38)
10:97167714 (GRCh37)
Canonical SPDI:: NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95407945:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SORBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAA=0./0 (GENOME_DK)
AAAAAAAAAAAA=0.14/701 (1000Genomes)
HGVS:: NC_000010.11:g.95407957_95407972del, NC_000010.11:g.95407958_95407972del, NC_000010.11:g.95407959_95407972del, NC_000010.11:g.95407960_95407972del, NC_000010.11:g.95407961_95407972del, NC_000010.11:g.95407962_95407972del, NC_000010.11:g.95407963_95407972del, NC_000010.11:g.95407964_95407972del, NC_000010.11:g.95407965_95407972del, NC_000010.11:g.95407966_95407972del, NC_000010.11:g.95407967_95407972del, NC_000010.11:g.95407968_95407972del, NC_000010.11:g.95407969_95407972del, NC_000010.11:g.95407970_95407972del, NC_000010.11:g.95407971_95407972del, NC_000010.11:g.95407972del, NC_000010.11:g.95407972dup, NC_000010.11:g.95407971_95407972dup, NC_000010.11:g.95407970_95407972dup, NC_000010.10:g.97167714_97167729del, NC_000010.10:g.97167715_97167729del, NC_000010.10:g.97167716_97167729del, NC_000010.10:g.97167717_97167729del, NC_000010.10:g.97167718_97167729del, NC_000010.10:g.97167719_97167729del, NC_000010.10:g.97167720_97167729del, NC_000010.10:g.97167721_97167729del, NC_000010.10:g.97167722_97167729del, NC_000010.10:g.97167723_97167729del, NC_000010.10:g.97167724_97167729del, NC_000010.10:g.97167725_97167729del, NC_000010.10:g.97167726_97167729del, NC_000010.10:g.97167727_97167729del, NC_000010.10:g.97167728_97167729del, NC_000010.10:g.97167729del, NC_000010.10:g.97167729dup, NC_000010.10:g.97167728_97167729dup, NC_000010.10:g.97167727_97167729dup, NG_034041.1:g.158460_158475del, NG_034041.1:g.158461_158475del, NG_034041.1:g.158462_158475del, NG_034041.1:g.158463_158475del, NG_034041.1:g.158464_158475del, NG_034041.1:g.158465_158475del, NG_034041.1:g.158466_158475del, NG_034041.1:g.158467_158475del, NG_034041.1:g.158468_158475del, NG_034041.1:g.158469_158475del, NG_034041.1:g.158470_158475del, NG_034041.1:g.158471_158475del, NG_034041.1:g.158472_158475del, NG_034041.1:g.158473_158475del, NG_034041.1:g.158474_158475del, NG_034041.1:g.158475del, NG_034041.1:g.158475dup, NG_034041.1:g.158474_158475dup, NG_034041.1:g.158473_158475dup

Select item 14915517207.

rs1491551720 has merged into rs878902749 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 10:95432342 (GRCh38)
10:97192099 (GRCh37)
Canonical SPDI:: NC_000010.11:95432333:CCCCCCCCCCCC:CCCCCCCC,NC_000010.11:95432333:CCCCCCCCCCCC:CCCCCCCCC,NC_000010.11:95432333:CCCCCCCCCCCC:CCCCCCCCCC,NC_000010.11:95432333:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000010.11:95432333:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000010.11:95432333:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000010.11:95432333:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000010.11:95432333:CCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000010.11:95432333:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000010.11:95432333:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000010.11:95432333:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000010.11:95432333:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000010.11:95432333:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000010.11:95432333:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:95432333:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000010.11:95432333:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: SORBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
C=0.01688/8 (NorthernSweden)
C=0.0471/73 (Korea1K)
C=0.0573/848 (TOMMO)
HGVS:: NC_000010.11:g.95432342_95432345del, NC_000010.11:g.95432343_95432345del, NC_000010.11:g.95432344_95432345del, NC_000010.11:g.95432345del, NC_000010.11:g.95432345dup, NC_000010.11:g.95432344_95432345dup, NC_000010.11:g.95432343_95432345dup, NC_000010.11:g.95432342_95432345dup, NC_000010.11:g.95432341_95432345dup, NC_000010.11:g.95432340_95432345dup, NC_000010.11:g.95432339_95432345dup, NC_000010.11:g.95432338_95432345dup, NC_000010.11:g.95432337_95432345dup, NC_000010.11:g.95432336_95432345dup, NC_000010.11:g.95432335_95432345dup, NC_000010.11:g.95432345_95432346insCCCCCCCCCCCCC, NC_000010.10:g.97192099_97192102del, NC_000010.10:g.97192100_97192102del, NC_000010.10:g.97192101_97192102del, NC_000010.10:g.97192102del, NC_000010.10:g.97192102dup, NC_000010.10:g.97192101_97192102dup, NC_000010.10:g.97192100_97192102dup, NC_000010.10:g.97192099_97192102dup, NC_000010.10:g.97192098_97192102dup, NC_000010.10:g.97192097_97192102dup, NC_000010.10:g.97192096_97192102dup, NC_000010.10:g.97192095_97192102dup, NC_000010.10:g.97192094_97192102dup, NC_000010.10:g.97192093_97192102dup, NC_000010.10:g.97192092_97192102dup, NC_000010.10:g.97192102_97192103insCCCCCCCCCCCCC, NG_034041.1:g.134084_134087del, NG_034041.1:g.134085_134087del, NG_034041.1:g.134086_134087del, NG_034041.1:g.134087del, NG_034041.1:g.134087dup, NG_034041.1:g.134086_134087dup, NG_034041.1:g.134085_134087dup, NG_034041.1:g.134084_134087dup, NG_034041.1:g.134083_134087dup, NG_034041.1:g.134082_134087dup, NG_034041.1:g.134081_134087dup, NG_034041.1:g.134080_134087dup, NG_034041.1:g.134079_134087dup, NG_034041.1:g.134078_134087dup, NG_034041.1:g.134077_134087dup, NG_034041.1:g.134087_134088insGGGGGGGGGGGGG

Select item 14915485858.

rs1491548585 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:95503016 (GRCh38)
10:97262773 (GRCh37)
Canonical SPDI:: NC_000010.11:95503014:AAA:A
Gene:: SORBS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.95503016_95503017del, NC_000010.10:g.97262773_97262774del, NG_034041.1:g.63405_63406del

Select item 14915398319.

rs1491539831 has merged into rs35328635 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:95494091 (GRCh38)
10:97253848 (GRCh37)
Canonical SPDI:: NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95494080:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SORBS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAA=0.1176/589 (1000Genomes)
-=0.2247/866 (ALSPAC)
HGVS:: NC_000010.11:g.95494091_95494106del, NC_000010.11:g.95494092_95494106del, NC_000010.11:g.95494093_95494106del, NC_000010.11:g.95494094_95494106del, NC_000010.11:g.95494095_95494106del, NC_000010.11:g.95494096_95494106del, NC_000010.11:g.95494097_95494106del, NC_000010.11:g.95494098_95494106del, NC_000010.11:g.95494100_95494106del, NC_000010.11:g.95494101_95494106del, NC_000010.11:g.95494102_95494106del, NC_000010.11:g.95494103_95494106del, NC_000010.11:g.95494104_95494106del, NC_000010.11:g.95494105_95494106del, NC_000010.11:g.95494106del, NC_000010.11:g.95494106dup, NC_000010.11:g.95494105_95494106dup, NC_000010.11:g.95494104_95494106dup, NC_000010.11:g.95494103_95494106dup, NC_000010.11:g.95494102_95494106dup, NC_000010.11:g.95494100_95494106dup, NC_000010.11:g.95494099_95494106dup, NC_000010.11:g.95494098_95494106dup, NC_000010.11:g.95494095_95494106dup, NC_000010.11:g.95494094_95494106dup, NC_000010.11:g.95494093_95494106dup, NC_000010.10:g.97253848_97253863del, NC_000010.10:g.97253849_97253863del, NC_000010.10:g.97253850_97253863del, NC_000010.10:g.97253851_97253863del, NC_000010.10:g.97253852_97253863del, NC_000010.10:g.97253853_97253863del, NC_000010.10:g.97253854_97253863del, NC_000010.10:g.97253855_97253863del, NC_000010.10:g.97253857_97253863del, NC_000010.10:g.97253858_97253863del, NC_000010.10:g.97253859_97253863del, NC_000010.10:g.97253860_97253863del, NC_000010.10:g.97253861_97253863del, NC_000010.10:g.97253862_97253863del, NC_000010.10:g.97253863del, NC_000010.10:g.97253863dup, NC_000010.10:g.97253862_97253863dup, NC_000010.10:g.97253861_97253863dup, NC_000010.10:g.97253860_97253863dup, NC_000010.10:g.97253859_97253863dup, NC_000010.10:g.97253857_97253863dup, NC_000010.10:g.97253856_97253863dup, NC_000010.10:g.97253855_97253863dup, NC_000010.10:g.97253852_97253863dup, NC_000010.10:g.97253851_97253863dup, NC_000010.10:g.97253850_97253863dup, NG_034041.1:g.72325_72340del, NG_034041.1:g.72326_72340del, NG_034041.1:g.72327_72340del, NG_034041.1:g.72328_72340del, NG_034041.1:g.72329_72340del, NG_034041.1:g.72330_72340del, NG_034041.1:g.72331_72340del, NG_034041.1:g.72332_72340del, NG_034041.1:g.72334_72340del, NG_034041.1:g.72335_72340del, NG_034041.1:g.72336_72340del, NG_034041.1:g.72337_72340del, NG_034041.1:g.72338_72340del, NG_034041.1:g.72339_72340del, NG_034041.1:g.72340del, NG_034041.1:g.72340dup, NG_034041.1:g.72339_72340dup, NG_034041.1:g.72338_72340dup, NG_034041.1:g.72337_72340dup, NG_034041.1:g.72336_72340dup, NG_034041.1:g.72334_72340dup, NG_034041.1:g.72333_72340dup, NG_034041.1:g.72332_72340dup, NG_034041.1:g.72329_72340dup, NG_034041.1:g.72328_72340dup, NG_034041.1:g.72327_72340dup

Select item 149153609210.

rs1491536092 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:95415119 (GRCh38)
10:97174876 (GRCh37)
Canonical SPDI:: NC_000010.11:95415117:ACA:A
Gene:: SORBS1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000010.11:g.95415119_95415120del, NC_000010.10:g.97174876_97174877del, NG_034041.1:g.151302_151303del

Select item 149151770111.

rs1491517701 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:95479401 (GRCh38)
10:97239158 (GRCh37)
Canonical SPDI:: NC_000010.11:95479400:TA:
Gene:: SORBS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.95479401_95479402del, NC_000010.10:g.97239158_97239159del, NG_034041.1:g.87019_87020del

Select item 149150164412.

rs1491501644 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 10:95365171 (GRCh38)
10:97124928 (GRCh37)
Canonical SPDI:: NC_000010.11:95365170:TT:
Gene:: SORBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00084/10 (ALFA)
-=0.00379/110 (GnomAD)
HGVS:: NC_000010.11:g.95365171_95365172del, NC_000010.10:g.97124928_97124929del, NG_034041.1:g.201249_201250del

Select item 149149468313.

rs1491494683 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:95404499 (GRCh38)
10:97164256 (GRCh37)
Canonical SPDI:: NC_000010.11:95404498:CT:
Gene:: SORBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000010.11:g.95404499_95404500del, NC_000010.10:g.97164256_97164257del, NG_034041.1:g.161921_161922del

Select item 149148394414.

rs1491483944 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:95407945 (GRCh38)
10:97167702 (GRCh37)
Canonical SPDI:: NC_000010.11:95407944:CA:
Gene:: SORBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00202/24 (ALFA)
HGVS:: NC_000010.11:g.95407945_95407946del, NC_000010.10:g.97167702_97167703del, NG_034041.1:g.158475_158476del

Select item 149148264915.

rs1491482649 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:95357369 (GRCh38)
10:97117126 (GRCh37)
Canonical SPDI:: NC_000010.11:95357367:AAA:A
Gene:: SORBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000235/32 (GnomAD)
HGVS:: NC_000010.11:g.95357369_95357370del, NC_000010.10:g.97117126_97117127del, NG_034041.1:g.209052_209053del

Select item 149148008516.

rs1491480085 has merged into rs113705956 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 10:95503008 (GRCh38)
10:97262765 (GRCh37)
Canonical SPDI:: NC_000010.11:95502998:ACACACACACACACACA:ACACACACA,NC_000010.11:95502998:ACACACACACACACACA:ACACACACACA,NC_000010.11:95502998:ACACACACACACACACA:ACACACACACACA,NC_000010.11:95502998:ACACACACACACACACA:ACACACACACACACA,NC_000010.11:95502998:ACACACACACACACACA:ACACACACACACACACACA,NC_000010.11:95502998:ACACACACACACACACA:ACACACACACACACACACACA,NC_000010.11:95502998:ACACACACACACACACA:ACACACACACACACACACACACA,NC_000010.11:95502998:ACACACACACACACACA:ACACACACACACACACACACACACA,NC_000010.11:95502998:ACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000010.11:95502998:ACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000010.11:95502998:ACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000010.11:95502998:ACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000010.11:95502998:ACACACACACACACACA:ACACACACACACACACACACACACACACACACACA
Gene:: SORBS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
ACAC=0.430511/2156 (1000Genomes)
HGVS:: NC_000010.11:g.95503000CA[4], NC_000010.11:g.95503000CA[5], NC_000010.11:g.95503000CA[6], NC_000010.11:g.95503000CA[7], NC_000010.11:g.95503000CA[9], NC_000010.11:g.95503000CA[10], NC_000010.11:g.95503000CA[11], NC_000010.11:g.95503000CA[12], NC_000010.11:g.95503000CA[13], NC_000010.11:g.95503000CA[14], NC_000010.11:g.95503000CA[15], NC_000010.11:g.95503000CA[16], NC_000010.11:g.95503000CA[17], NC_000010.10:g.97262757CA[4], NC_000010.10:g.97262757CA[5], NC_000010.10:g.97262757CA[6], NC_000010.10:g.97262757CA[7], NC_000010.10:g.97262757CA[9], NC_000010.10:g.97262757CA[10], NC_000010.10:g.97262757CA[11], NC_000010.10:g.97262757CA[12], NC_000010.10:g.97262757CA[13], NC_000010.10:g.97262757CA[14], NC_000010.10:g.97262757CA[15], NC_000010.10:g.97262757CA[16], NC_000010.10:g.97262757CA[17], NG_034041.1:g.63407GT[4], NG_034041.1:g.63407GT[5], NG_034041.1:g.63407GT[6], NG_034041.1:g.63407GT[7], NG_034041.1:g.63407GT[9], NG_034041.1:g.63407GT[10], NG_034041.1:g.63407GT[11], NG_034041.1:g.63407GT[12], NG_034041.1:g.63407GT[13], NG_034041.1:g.63407GT[14], NG_034041.1:g.63407GT[15], NG_034041.1:g.63407GT[16], NG_034041.1:g.63407GT[17]

Select item 149143797817.

rs1491437978 has merged into rs57528376 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:95479411 (GRCh38)
10:97239168 (GRCh37)
Canonical SPDI:: NC_000010.11:95479401:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:95479401:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:95479401:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:95479401:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:95479401:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:95479401:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:95479401:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:95479401:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:95479401:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95479401:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:95479401:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SORBS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.3437/1721 (1000Genomes)
HGVS:: NC_000010.11:g.95479411_95479422del, NC_000010.11:g.95479413_95479422del, NC_000010.11:g.95479417_95479422del, NC_000010.11:g.95479418_95479422del, NC_000010.11:g.95479419_95479422del, NC_000010.11:g.95479420_95479422del, NC_000010.11:g.95479421_95479422del, NC_000010.11:g.95479422del, NC_000010.11:g.95479422dup, NC_000010.11:g.95479421_95479422dup, NC_000010.11:g.95479419_95479422dup, NC_000010.10:g.97239168_97239179del, NC_000010.10:g.97239170_97239179del, NC_000010.10:g.97239174_97239179del, NC_000010.10:g.97239175_97239179del, NC_000010.10:g.97239176_97239179del, NC_000010.10:g.97239177_97239179del, NC_000010.10:g.97239178_97239179del, NC_000010.10:g.97239179del, NC_000010.10:g.97239179dup, NC_000010.10:g.97239178_97239179dup, NC_000010.10:g.97239176_97239179dup, NG_034041.1:g.87008_87019del, NG_034041.1:g.87010_87019del, NG_034041.1:g.87014_87019del, NG_034041.1:g.87015_87019del, NG_034041.1:g.87016_87019del, NG_034041.1:g.87017_87019del, NG_034041.1:g.87018_87019del, NG_034041.1:g.87019del, NG_034041.1:g.87019dup, NG_034041.1:g.87018_87019dup, NG_034041.1:g.87016_87019dup

Select item 149142926218.

rs1491429262 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:95401371 (GRCh38)
10:97161128 (GRCh37)
Canonical SPDI:: NC_000010.11:95401370:CA:
Gene:: SORBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.95401371_95401372del, NC_000010.10:g.97161128_97161129del, NG_034041.1:g.165049_165050del

Select item 149142520919.

rs1491425209 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG,CG [Show Flanks]
Chromosome:: 10:95560085 (GRCh38)
10:97319843 (GRCh37)
Canonical SPDI:: NC_000010.11:95560085:G:GAG,NC_000010.11:95560085:G:GCG
Gene:: SORBS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCG=0./0 (ALFA)
GA=0.000004/1 (TOPMED)
GC=0.000071/1 (TOMMO)
HGVS:: NC_000010.11:g.95560086_95560087insAG, NC_000010.11:g.95560086_95560087insCG, NC_000010.10:g.97319843_97319844insAG, NC_000010.10:g.97319843_97319844insCG, NG_034041.1:g.6335_6336insTC, NG_034041.1:g.6335_6336insGC

Select item 149138716920.

rs1491387169 has merged into rs56839385 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGGG [Show Flanks]
Chromosome:: 10:95408587 (GRCh38)
10:97168344 (GRCh37)
Canonical SPDI:: NC_000010.11:95408578:GGGGGGGGGGGG:GGGGGGGG,NC_000010.11:95408578:GGGGGGGGGGGG:GGGGGGGGG,NC_000010.11:95408578:GGGGGGGGGGGG:GGGGGGGGGG,NC_000010.11:95408578:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000010.11:95408578:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000010.11:95408578:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000010.11:95408578:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000010.11:95408578:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000010.11:95408578:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000010.11:95408578:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000010.11:95408578:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG
Gene:: SORBS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000010.11:g.95408587_95408590del, NC_000010.11:g.95408588_95408590del, NC_000010.11:g.95408589_95408590del, NC_000010.11:g.95408590del, NC_000010.11:g.95408590dup, NC_000010.11:g.95408589_95408590dup, NC_000010.11:g.95408588_95408590dup, NC_000010.11:g.95408587_95408590dup, NC_000010.11:g.95408586_95408590dup, NC_000010.11:g.95408585_95408590dup, NC_000010.11:g.95408583_95408590dup, NC_000010.10:g.97168344_97168347del, NC_000010.10:g.97168345_97168347del, NC_000010.10:g.97168346_97168347del, NC_000010.10:g.97168347del, NC_000010.10:g.97168347dup, NC_000010.10:g.97168346_97168347dup, NC_000010.10:g.97168345_97168347dup, NC_000010.10:g.97168344_97168347dup, NC_000010.10:g.97168343_97168347dup, NC_000010.10:g.97168342_97168347dup, NC_000010.10:g.97168340_97168347dup, NG_034041.1:g.157839_157842del, NG_034041.1:g.157840_157842del, NG_034041.1:g.157841_157842del, NG_034041.1:g.157842del, NG_034041.1:g.157842dup, NG_034041.1:g.157841_157842dup, NG_034041.1:g.157840_157842dup, NG_034041.1:g.157839_157842dup, NG_034041.1:g.157838_157842dup, NG_034041.1:g.157837_157842dup, NG_034041.1:g.157835_157842dup

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