SNP Links for Gene (Select 100507464) - SNP

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Select item 14915761321.

rs1491576132 has merged into rs202198796 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:49508710 (GRCh38)
8:50421269 (GRCh37)
Canonical SPDI:: NC_000008.11:49508701:TTTTTTTTTTTTT:TTTTTTTT,NC_000008.11:49508701:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:49508701:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:49508701:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:49508701:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:49508701:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:49508701:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:49508701:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC100507464 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.12602/523 (1000Genomes)
T=0.275/11 (GENOME_DK)
HGVS:: NC_000008.11:g.49508710_49508714del, NC_000008.11:g.49508713_49508714del, NC_000008.11:g.49508714del, NC_000008.11:g.49508714dup, NC_000008.11:g.49508713_49508714dup, NC_000008.11:g.49508712_49508714dup, NC_000008.11:g.49508709_49508714dup, NC_000008.11:g.49508706_49508714dup, NC_000008.10:g.50421269_50421273del, NC_000008.10:g.50421272_50421273del, NC_000008.10:g.50421273del, NC_000008.10:g.50421273dup, NC_000008.10:g.50421272_50421273dup, NC_000008.10:g.50421271_50421273dup, NC_000008.10:g.50421268_50421273dup, NC_000008.10:g.50421265_50421273dup

Select item 14915756192.

rs1491575619 has merged into rs543441454 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 8:49504447 (GRCh38)
8:50417006 (GRCh37)
Canonical SPDI:: NC_000008.11:49504437:TTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:49504437:TTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:49504437:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:49504437:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:49504437:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: LOC100507464 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.2/8 (GENOME_DK)
T=0.20527/1028 (1000Genomes)
HGVS:: NC_000008.11:g.49504447_49504449del, NC_000008.11:g.49504448_49504449del, NC_000008.11:g.49504449del, NC_000008.11:g.49504449dup, NC_000008.11:g.49504448_49504449dup, NC_000008.10:g.50417006_50417008del, NC_000008.10:g.50417007_50417008del, NC_000008.10:g.50417008del, NC_000008.10:g.50417008dup, NC_000008.10:g.50417007_50417008dup

Select item 14915494763.

Error occurred: cannot get document summary

Select item 14913148644.

rs1491314864 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAAAAAAAAAAAAAAAAAAAAT,AAAAAAAAAAAAAAAAAT,AAAAG [Show Flanks]
Chromosome:: 8:49507176 (GRCh38)
8:50419736 (GRCh37)
Canonical SPDI:: NC_000008.11:49507176::AAAAAAAAAAAAAAAAAAAAAAAT,NC_000008.11:49507176::AAAAAAAAAAAAAAAAAT,NC_000008.11:49507176::AAAAG
Gene:: LOC100507464 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAG=0./0 (ALFA)
HGVS:: NC_000008.11:g.49507176_49507177insAAAAAAAAAAAAAAAAAAAAAAAT, NC_000008.11:g.49507176_49507177insAAAAAAAAAAAAAAAAAT, NC_000008.11:g.49507176_49507177insAAAAG, NC_000008.10:g.50419735_50419736insAAAAAAAAAAAAAAAAAAAAAAAT, NC_000008.10:g.50419735_50419736insAAAAAAAAAAAAAAAAAT, NC_000008.10:g.50419735_50419736insAAAAG

Select item 14911927665.

rs1491192766 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:49507177 (GRCh38)
8:50419736 (GRCh37)
Canonical SPDI:: NC_000008.11:49507175:ACA:A
Gene:: LOC100507464 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.006154/73 (ALFA)
-=0.000122/3 (TOMMO)
-=0.00867/1176 (GnomAD)
HGVS:: NC_000008.11:g.49507177_49507178del, NC_000008.10:g.50419736_50419737del

Select item 14908989036.

rs1490898903 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:49508326 (GRCh38)
8:50420885 (GRCh37)
Canonical SPDI:: NC_000008.11:49508325:A:C
Gene:: LOC100507464 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.49508326A>C, NC_000008.10:g.50420885A>C

Select item 14908481447.

rs1490848144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:49510143 (GRCh38)
8:50422702 (GRCh37)
Canonical SPDI:: NC_000008.11:49510142:G:A
Gene:: LOC100507464 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.49510143G>A, NC_000008.10:g.50422702G>A

Select item 14907666868.

rs1490766686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 8:49500237 (GRCh38)
8:50412796 (GRCh37)
Canonical SPDI:: NC_000008.11:49500236:A:C,NC_000008.11:49500236:A:T
Gene:: LOC100507464 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.49500237A>C, NC_000008.11:g.49500237A>T, NC_000008.10:g.50412796A>C, NC_000008.10:g.50412796A>T

Select item 14904801529.

rs1490480152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:49506882 (GRCh38)
8:50419441 (GRCh37)
Canonical SPDI:: NC_000008.11:49506881:A:C
Gene:: LOC100507464 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.49506882A>C, NC_000008.10:g.50419441A>C

Select item 149044884410.

rs1490448844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:49507384 (GRCh38)
8:50419943 (GRCh37)
Canonical SPDI:: NC_000008.11:49507383:C:T
Gene:: LOC100507464 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.49507384C>T, NC_000008.10:g.50419943C>T

Select item 149027761211.

rs1490277612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:49499810 (GRCh38)
8:50412369 (GRCh37)
Canonical SPDI:: NC_000008.11:49499809:T:C
Gene:: LOC100507464 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.49499810T>C, NC_000008.10:g.50412369T>C

Select item 149015408212.

rs1490154082 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACAAAAGACCAAACACTG>- [Show Flanks]
Chromosome:: 8:49506142 (GRCh38)
8:50418701 (GRCh37)
Canonical SPDI:: NC_000008.11:49506139:TGGACAAAAGACCAAACACTG:TG
Gene:: LOC100507464 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.49506142_49506160del, NC_000008.10:g.50418701_50418719del

Select item 148996537413.

rs1489965374 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 8:49507174 (GRCh38)
8:50419733 (GRCh37)
Canonical SPDI:: NC_000008.11:49507173:A:C,NC_000008.11:49507173:A:T
Gene:: LOC100507464 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.49507174A>C, NC_000008.11:g.49507174A>T, NC_000008.10:g.50419733A>C, NC_000008.10:g.50419733A>T

Select item 148996051414.

rs1489960514 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAAAAAAAA>- [Show Flanks]
Chromosome:: 8:49507177 (GRCh38)
8:50419736 (GRCh37)
Canonical SPDI:: NC_000008.11:49507167:AAAAAAAAACAAAAAAAAA:AAAAAAAAA
Gene:: LOC100507464 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000008.11:g.49507177_49507186del, NC_000008.10:g.50419736_50419745del

Select item 148991884915.

rs1489918849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:49506697 (GRCh38)
8:50419256 (GRCh37)
Canonical SPDI:: NC_000008.11:49506696:G:A,NC_000008.11:49506696:G:C
Gene:: LOC100507464 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.49506697G>A, NC_000008.11:g.49506697G>C, NC_000008.10:g.50419256G>A, NC_000008.10:g.50419256G>C

Select item 148984585316.

rs1489845853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:49514052 (GRCh38)
8:50426611 (GRCh37)
Canonical SPDI:: NC_000008.11:49514051:C:T
Gene:: LOC100507464 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.49514052C>T, NC_000008.10:g.50426611C>T

Select item 148973935117.

rs1489739351 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:49502954 (GRCh38)
8:50415513 (GRCh37)
Canonical SPDI:: NC_000008.11:49502953:C:T
Gene:: LOC100507464 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.49502954C>T, NC_000008.10:g.50415513C>T

Select item 148958057618.

rs1489580576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:49512336 (GRCh38)
8:50424895 (GRCh37)
Canonical SPDI:: NC_000008.11:49512335:A:C
Gene:: LOC100507464 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.49512336A>C, NC_000008.10:g.50424895A>C

Select item 148924751719.

rs1489247517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:49498819 (GRCh38)
8:50411378 (GRCh37)
Canonical SPDI:: NC_000008.11:49498818:G:A,NC_000008.11:49498818:G:C,NC_000008.11:49498818:G:T
Gene:: LOC100507464 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.49498819G>A, NC_000008.11:g.49498819G>C, NC_000008.11:g.49498819G>T, NC_000008.10:g.50411378G>A, NC_000008.10:g.50411378G>C, NC_000008.10:g.50411378G>T

Select item 148908720820.

rs1489087208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:49499688 (GRCh38)
8:50412247 (GRCh37)
Canonical SPDI:: NC_000008.11:49499687:C:A
Gene:: LOC100507464 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.49499688C>A, NC_000008.10:g.50412247C>A

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