SNP Links for Gene (Select 23071) - SNP

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Select item 14915841231.

rs1491584123 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 9:100100638 (GRCh38)
9:102862920 (GRCh37)
Canonical SPDI:: NC_000009.12:100100637:TT:
Gene:: ERP44 (Varview), INVS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00321/5 (Korea1K)
-=0.0092/153 (TOMMO)
-=0.01435/871 (GnomAD)
HGVS:: NC_000009.12:g.100100638_100100639del, NC_000009.11:g.102862920_102862921del, NG_008316.1:g.6410_6411del

Select item 14915783772.

rs1491578377 has merged into rs545716668 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT [Show Flanks]
Chromosome:: 9:99996991 (GRCh38)
9:102759273 (GRCh37)
Canonical SPDI:: NC_000009.12:99996985:TGTGTGTGT:TGTGT,NC_000009.12:99996985:TGTGTGTGT:TGTGTGT,NC_000009.12:99996985:TGTGTGTGT:TGTGTGTGTGT
Gene:: ERP44 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TG=0.004193/21 (1000Genomes)
TG=0.004961/9 (Korea1K)
TG=0.005017/3 (NorthernSweden)
HGVS:: NC_000009.12:g.99996987GT[2], NC_000009.12:g.99996987GT[3], NC_000009.12:g.99996987GT[5], NC_000009.11:g.102759269GT[2], NC_000009.11:g.102759269GT[3], NC_000009.11:g.102759269GT[5]

Select item 14915678253.

rs1491567825 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATA [Show Flanks]
Chromosome:: 9:100100919 (GRCh38)
9:102863202 (GRCh37)
Canonical SPDI:: NC_000009.12:100100919:ATA:ATAATA
Gene:: ERP44 (Varview), INVS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ATAATA=0./0 (ALFA)
HGVS:: NC_000009.12:g.100100920_100100922dup, NC_000009.11:g.102863202_102863204dup, NG_008316.1:g.6692_6694dup

Select item 14915570064.

rs1491557006 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T,TATAT,TATATAT,TATATATAT [Show Flanks]
Chromosome:: 9:100100628 (GRCh38)
9:102862911 (GRCh37)
Canonical SPDI:: NC_000009.12:100100628::C,NC_000009.12:100100628::T,NC_000009.12:100100628::TATAT,NC_000009.12:100100628::TATATAT,NC_000009.12:100100628::TATATATAT
Gene:: ERP44 (Varview), INVS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000009.12:g.100100628_100100629insC, NC_000009.12:g.100100628_100100629insT, NC_000009.12:g.100100628_100100629insTATAT, NC_000009.12:g.100100628_100100629insTATATAT, NC_000009.12:g.100100628_100100629insTATATATAT, NC_000009.11:g.102862910_102862911insC, NC_000009.11:g.102862910_102862911insT, NC_000009.11:g.102862910_102862911insTATAT, NC_000009.11:g.102862910_102862911insTATATAT, NC_000009.11:g.102862910_102862911insTATATATAT, NG_008316.1:g.6400_6401insC, NG_008316.1:g.6400_6401insT, NG_008316.1:g.6400_6401insTATAT, NG_008316.1:g.6400_6401insTATATAT, NG_008316.1:g.6400_6401insTATATATAT

Select item 14915501635.

rs1491550163 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 9:100100973 (GRCh38)
9:102863255 (GRCh37)
Canonical SPDI:: NC_000009.12:100100972:TT:
Gene:: ERP44 (Varview), INVS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00013/8 (GnomAD)
HGVS:: NC_000009.12:g.100100973_100100974del, NC_000009.11:g.102863255_102863256del, NG_008316.1:g.6745_6746del

Select item 14915457916.

rs1491545791 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 9:100100613 (GRCh38)
9:102862895 (GRCh37)
Canonical SPDI:: NC_000009.12:100100612:AA:
Gene:: ERP44 (Varview), INVS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.0005/8 (TOMMO)
HGVS:: NC_000009.12:g.100100613_100100614del, NC_000009.11:g.102862895_102862896del, NG_008316.1:g.6385_6386del

Select item 14915420637.

rs1491542063 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 9:100100918 (GRCh38)
9:102863200 (GRCh37)
Canonical SPDI:: NC_000009.12:100100916:TGT:T
Gene:: ERP44 (Varview), INVS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.100100918_100100919del, NC_000009.11:g.102863200_102863201del, NG_008316.1:g.6690_6691del

Select item 14915333358.

rs1491533335 has merged into rs58004954 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:100063081 (GRCh38)
9:102825363 (GRCh37)
Canonical SPDI:: NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:100063075:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA
Gene:: ERP44 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAA=0.475/19 (GENOME_DK)
HGVS:: NC_000009.12:g.100063081_100063093del, NC_000009.12:g.100063082_100063093del, NC_000009.12:g.100063084_100063093del, NC_000009.12:g.100063087_100063093del, NC_000009.12:g.100063088_100063093del, NC_000009.12:g.100063089_100063093del, NC_000009.12:g.100063090_100063093del, NC_000009.12:g.100063091_100063093del, NC_000009.12:g.100063092_100063093del, NC_000009.12:g.100063093del, NC_000009.12:g.100063093dup, NC_000009.12:g.100063092_100063093dup, NC_000009.12:g.100063091_100063093dup, NC_000009.12:g.100063090_100063093dup, NC_000009.12:g.100063089_100063093dup, NC_000009.12:g.100063088_100063093dup, NC_000009.12:g.100063087_100063093dup, NC_000009.12:g.100063086_100063093dup, NC_000009.12:g.100063085_100063093dup, NC_000009.12:g.100063084_100063093dup, NC_000009.12:g.100063083_100063093dup, NC_000009.12:g.100063082_100063093dup, NC_000009.12:g.100063081_100063093dup, NC_000009.12:g.100063080_100063093dup, NC_000009.12:g.100063079_100063093dup, NC_000009.12:g.100063078_100063093dup, NC_000009.12:g.100063077_100063093dup, NC_000009.12:g.100063076_100063093dup, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063093_100063094insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.100063076_100063093A[38]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.12:g.100063076_100063093A[36]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.12:g.100063076_100063093A[24]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.102825363_102825375del, NC_000009.11:g.102825364_102825375del, NC_000009.11:g.102825366_102825375del, NC_000009.11:g.102825369_102825375del, NC_000009.11:g.102825370_102825375del, NC_000009.11:g.102825371_102825375del, NC_000009.11:g.102825372_102825375del, NC_000009.11:g.102825373_102825375del, NC_000009.11:g.102825374_102825375del, NC_000009.11:g.102825375del, NC_000009.11:g.102825375dup, NC_000009.11:g.102825374_102825375dup, NC_000009.11:g.102825373_102825375dup, NC_000009.11:g.102825372_102825375dup, NC_000009.11:g.102825371_102825375dup, NC_000009.11:g.102825370_102825375dup, NC_000009.11:g.102825369_102825375dup, NC_000009.11:g.102825368_102825375dup, NC_000009.11:g.102825367_102825375dup, NC_000009.11:g.102825366_102825375dup, NC_000009.11:g.102825365_102825375dup, NC_000009.11:g.102825364_102825375dup, NC_000009.11:g.102825363_102825375dup, NC_000009.11:g.102825362_102825375dup, NC_000009.11:g.102825361_102825375dup, NC_000009.11:g.102825360_102825375dup, NC_000009.11:g.102825359_102825375dup, NC_000009.11:g.102825358_102825375dup, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825375_102825376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.102825358_102825375A[38]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.102825358_102825375A[36]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.102825358_102825375A[24]CAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14915031659.

rs1491503165 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATATGTATATA,ATATATTTATATA [Show Flanks]
Chromosome:: 9:100100862 (GRCh38)
9:102863145 (GRCh37)
Canonical SPDI:: NC_000009.12:100100862:TATATA:TATATAATATATGTATATA,NC_000009.12:100100862:TATATA:TATATAATATATTTATATA
Gene:: ERP44 (Varview), INVS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATAATATATGTATATA=0./0 (ALFA)
TATATAATATATG=0.01754/2 (Korea1K)
-=0.31632/993 (TOMMO)
HGVS:: NC_000009.12:g.100100863_100100868TA[3]AT[3]GTATATA[1], NC_000009.12:g.100100863_100100868TA[3]AT[3]TTATATA[1], NC_000009.11:g.102863145_102863150TA[3]AT[3]GTATATA[1], NC_000009.11:g.102863145_102863150TA[3]AT[3]TTATATA[1], NG_008316.1:g.6635_6640TA[3]AT[3]GTATATA[1], NG_008316.1:g.6635_6640TA[3]AT[3]TTATATA[1]

Select item 149150222710.

rs1491502227 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACACAGA,CACAGA,CAGA [Show Flanks]
Chromosome:: 9:100079455 (GRCh38)
9:102841738 (GRCh37)
Canonical SPDI:: NC_000009.12:100079455:A:ACACACAGA,NC_000009.12:100079455:A:ACACAGA,NC_000009.12:100079455:A:ACAGA
Gene:: ERP44 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACAGA=0./0 (ALFA)
ACACAG=0.00007/1 (TOMMO)
ACAG=0.00167/1 (NorthernSweden)
HGVS:: NC_000009.12:g.100079456AC[3]AGA[1], NC_000009.12:g.100079456AC[2]AGA[1], NC_000009.12:g.100079456_100079457insCAGA, NC_000009.11:g.102841738AC[3]AGA[1], NC_000009.11:g.102841738AC[2]AGA[1], NC_000009.11:g.102841738_102841739insCAGA

Select item 149148819011.

rs1491488190 has merged into rs34197217 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:99982427 (GRCh38)
9:102744709 (GRCh37)
Canonical SPDI:: NC_000009.12:99982416:TTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:99982416:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:99982416:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:99982416:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:99982416:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:99982416:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:99982416:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ERP44 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.2885/1445 (1000Genomes)
HGVS:: NC_000009.12:g.99982427_99982428del, NC_000009.12:g.99982428del, NC_000009.12:g.99982428dup, NC_000009.12:g.99982427_99982428dup, NC_000009.12:g.99982426_99982428dup, NC_000009.12:g.99982425_99982428dup, NC_000009.12:g.99982417_99982428dup, NC_000009.11:g.102744709_102744710del, NC_000009.11:g.102744710del, NC_000009.11:g.102744710dup, NC_000009.11:g.102744709_102744710dup, NC_000009.11:g.102744708_102744710dup, NC_000009.11:g.102744707_102744710dup, NC_000009.11:g.102744699_102744710dup, NM_015051.3:c.*194_*195del, NM_015051.3:c.*195del, NM_015051.3:c.*195dup, NM_015051.3:c.*194_*195dup, NM_015051.3:c.*193_*195dup, NM_015051.3:c.*192_*195dup, NM_015051.3:c.*184_*195dup, NM_015051.2:c.*194_*195del, NM_015051.2:c.*195del, NM_015051.2:c.*195dup, NM_015051.2:c.*194_*195dup, NM_015051.2:c.*193_*195dup, NM_015051.2:c.*192_*195dup, NM_015051.2:c.*184_*195dup, NM_015051.1:c.*194_*195del, NM_015051.1:c.*195del, NM_015051.1:c.*195dup, NM_015051.1:c.*194_*195dup, NM_015051.1:c.*193_*195dup, NM_015051.1:c.*192_*195dup, NM_015051.1:c.*184_*195dup

Select item 149148569412.

rs1491485694 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 9:100100937 (GRCh38)
9:102863219 (GRCh37)
Canonical SPDI:: NC_000009.12:100100936:AA:
Gene:: ERP44 (Varview), INVS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00022/3 (TOMMO)
-=0.00042/14 (GnomAD)
-=0.00227/2 (Korea1K)
HGVS:: NC_000009.12:g.100100937_100100938del, NC_000009.11:g.102863219_102863220del, NG_008316.1:g.6709_6710del

Select item 149148206313.

rs1491482063 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:100037039 (GRCh38)
9:102799322 (GRCh37)
Canonical SPDI:: NC_000009.12:100037039:T:TT
Gene:: ERP44 (Varview), LOC105376176 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.100037040dup, NC_000009.11:g.102799322dup, XR_001746547.2:n.11185dup

Select item 149144676214.

rs1491446762 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT [Show Flanks]
Chromosome:: 9:100100868 (GRCh38)
9:102863150 (GRCh37)
Canonical SPDI:: NC_000009.12:100100861:ATATATATAT:ATATAT,NC_000009.12:100100861:ATATATATAT:ATATATAT
Gene:: ERP44 (Varview), INVS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
-=0.00048/1 (TOMMO)
-=0.00236/16 (GnomAD)
HGVS:: NC_000009.12:g.100100862AT[3], NC_000009.12:g.100100862AT[4], NC_000009.11:g.102863144AT[3], NC_000009.11:g.102863144AT[4], NG_008316.1:g.6634AT[3], NG_008316.1:g.6634AT[4]

Select item 149144339715.

rs1491443397 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 9:100100716 (GRCh38)
9:102862998 (GRCh37)
Canonical SPDI:: NC_000009.12:100100715:TT:
Gene:: ERP44 (Varview), INVS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00008/2 (TOMMO)
-=0.00724/262 (GnomAD)
HGVS:: NC_000009.12:g.100100716_100100717del, NC_000009.11:g.102862998_102862999del, NG_008316.1:g.6488_6489del

Select item 149143768816.

rs1491437688 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACA,ATTA [Show Flanks]
Chromosome:: 9:100100664 (GRCh38)
9:102862947 (GRCh37)
Canonical SPDI:: NC_000009.12:100100664::ACA,NC_000009.12:100100664::ATTA
Gene:: ERP44 (Varview), INVS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ATTA=0.00185/22 (ALFA)
ACA=0.00038/8 (GnomAD)
HGVS:: NC_000009.12:g.100100664_100100665insACA, NC_000009.12:g.100100664_100100665insATTA, NC_000009.11:g.102862946_102862947insACA, NC_000009.11:g.102862946_102862947insATTA, NG_008316.1:g.6436_6437insACA, NG_008316.1:g.6436_6437insATTA

Select item 149141535117.

rs1491415351 has merged into rs34853838 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:100071106 (GRCh38)
9:102833388 (GRCh37)
Canonical SPDI:: NC_000009.12:100071093:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:100071093:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:100071093:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:100071093:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:100071093:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:100071093:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:100071093:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:100071093:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:100071093:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:100071093:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:100071093:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:100071093:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:100071093:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:100071093:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ERP44 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.100071106_100071112del, NC_000009.12:g.100071108_100071112del, NC_000009.12:g.100071110_100071112del, NC_000009.12:g.100071111_100071112del, NC_000009.12:g.100071112del, NC_000009.12:g.100071112dup, NC_000009.12:g.100071111_100071112dup, NC_000009.12:g.100071110_100071112dup, NC_000009.12:g.100071109_100071112dup, NC_000009.12:g.100071108_100071112dup, NC_000009.12:g.100071107_100071112dup, NC_000009.12:g.100071106_100071112dup, NC_000009.12:g.100071105_100071112dup, NC_000009.12:g.100071104_100071112dup, NC_000009.11:g.102833388_102833394del, NC_000009.11:g.102833390_102833394del, NC_000009.11:g.102833392_102833394del, NC_000009.11:g.102833393_102833394del, NC_000009.11:g.102833394del, NC_000009.11:g.102833394dup, NC_000009.11:g.102833393_102833394dup, NC_000009.11:g.102833392_102833394dup, NC_000009.11:g.102833391_102833394dup, NC_000009.11:g.102833390_102833394dup, NC_000009.11:g.102833389_102833394dup, NC_000009.11:g.102833388_102833394dup, NC_000009.11:g.102833387_102833394dup, NC_000009.11:g.102833386_102833394dup

Select item 149141055418.

rs1491410554 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 9:100100927 (GRCh38)
9:102863209 (GRCh37)
Canonical SPDI:: NC_000009.12:100100918:TATATATATA:TATATATA,NC_000009.12:100100918:TATATATATA:TATATATATATA
Gene:: ERP44 (Varview), INVS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATA=0./0 (ALFA)
-=0.01046/165 (TOMMO)
HGVS:: NC_000009.12:g.100100919TA[4], NC_000009.12:g.100100919TA[6], NC_000009.11:g.102863201TA[4], NC_000009.11:g.102863201TA[6], NG_008316.1:g.6691TA[4], NG_008316.1:g.6691TA[6]

Select item 149140819519.

rs1491408195 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T [Show Flanks]
Chromosome:: 9:100100937 (GRCh38)
9:102863220 (GRCh37)
Canonical SPDI:: NC_000009.12:100100937::C,NC_000009.12:100100937::T
Gene:: ERP44 (Varview), INVS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00015/4 (TOMMO)
HGVS:: NC_000009.12:g.100100937_100100938insC, NC_000009.12:g.100100937_100100938insT, NC_000009.11:g.102863219_102863220insC, NC_000009.11:g.102863219_102863220insT, NG_008316.1:g.6709_6710insC, NG_008316.1:g.6709_6710insT

Select item 149140811020.

rs1491408110 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T,TAT,TATATTAT,TGTAC,TT,TTATATATACATATAATATATATATTATATATACATATAATATATATATT [Show Flanks]
Chromosome:: 9:100100613 (GRCh38)
9:102862896 (GRCh37)
Canonical SPDI:: NC_000009.12:100100613::C,NC_000009.12:100100613::T,NC_000009.12:100100613::TAT,NC_000009.12:100100613::TATATTAT,NC_000009.12:100100613::TGTAC,NC_000009.12:100100613::TT,NC_000009.12:100100613::TTATATATACATATAATATATATATTATATATACATATAATATATATATT
Gene:: ERP44 (Varview), INVS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
TT=0.00089/15 (TOMMO)
HGVS:: NC_000009.12:g.100100613_100100614insC, NC_000009.12:g.100100613_100100614insT, NC_000009.12:g.100100613_100100614insTAT, NC_000009.12:g.100100613_100100614insTATATTAT, NC_000009.12:g.100100613_100100614insTGTAC, NC_000009.12:g.100100613_100100614insTT, NC_000009.12:g.100100613_100100614insTTATATATACATATAATATATATATTATATATACATATAATATATATATT, NC_000009.11:g.102862895_102862896insC, NC_000009.11:g.102862895_102862896insT, NC_000009.11:g.102862895_102862896insTAT, NC_000009.11:g.102862895_102862896insTATATTAT, NC_000009.11:g.102862895_102862896insTGTAC, NC_000009.11:g.102862895_102862896insTT, NC_000009.11:g.102862895_102862896insTTATATATACATATAATATATATATTATATATACATATAATATATATATT, NG_008316.1:g.6385_6386insC, NG_008316.1:g.6385_6386insT, NG_008316.1:g.6385_6386insTAT, NG_008316.1:g.6385_6386insTATATTAT, NG_008316.1:g.6385_6386insTGTAC, NG_008316.1:g.6385_6386insTT, NG_008316.1:g.6385_6386insTTATATATACATATAATATATATATTATATATACATATAATATATATATT

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