SNP Links for Gene (Select 126731) - SNP

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Select item 14915391361.

rs1491539136 has merged into rs539736168 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:229337676 (GRCh38)
1:229473423 (GRCh37)
Canonical SPDI:: NC_000001.11:229337670:AAAAAAAAA:AAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:229337670:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CCSAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.229337676_229337679del, NC_000001.11:g.229337678_229337679del, NC_000001.11:g.229337679del, NC_000001.11:g.229337679dup, NC_000001.11:g.229337678_229337679dup, NC_000001.11:g.229337677_229337679dup, NC_000001.11:g.229337676_229337679dup, NC_000001.11:g.229337675_229337679dup, NC_000001.11:g.229337674_229337679dup, NC_000001.11:g.229337673_229337679dup, NC_000001.11:g.229337672_229337679dup, NC_000001.11:g.229337671_229337679dup, NC_000001.11:g.229337679_229337680insAAAAAAAAAA, NC_000001.11:g.229337679_229337680insAAAAAAAAAAA, NC_000001.11:g.229337679_229337680insAAAAAAAAAAAA, NC_000001.11:g.229337679_229337680insAAAAAAAAAAAAA, NC_000001.11:g.229337679_229337680insAAAAAAAAAAAAAA, NC_000001.11:g.229337679_229337680insAAAAAAAAAAAAAAA, NC_000001.11:g.229337679_229337680insAAAAAAAAAAAAAAAA, NC_000001.11:g.229337679_229337680insAAAAAAAAAAAAAAAAA, NC_000001.11:g.229337679_229337680insAAAAAAAAAAAAAAAAAA, NC_000001.11:g.229337679_229337680insAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.229337679_229337680insAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.229337679_229337680insAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.229337679_229337680insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.229337679_229337680insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.229337679_229337680insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.229337679_229337680insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.229337679_229337680insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.229337679_229337680insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.229473423_229473426del, NC_000001.10:g.229473425_229473426del, NC_000001.10:g.229473426del, NC_000001.10:g.229473426dup, NC_000001.10:g.229473425_229473426dup, NC_000001.10:g.229473424_229473426dup, NC_000001.10:g.229473423_229473426dup, NC_000001.10:g.229473422_229473426dup, NC_000001.10:g.229473421_229473426dup, NC_000001.10:g.229473420_229473426dup, NC_000001.10:g.229473419_229473426dup, NC_000001.10:g.229473418_229473426dup, NC_000001.10:g.229473426_229473427insAAAAAAAAAA, NC_000001.10:g.229473426_229473427insAAAAAAAAAAA, NC_000001.10:g.229473426_229473427insAAAAAAAAAAAA, NC_000001.10:g.229473426_229473427insAAAAAAAAAAAAA, NC_000001.10:g.229473426_229473427insAAAAAAAAAAAAAA, NC_000001.10:g.229473426_229473427insAAAAAAAAAAAAAAA, NC_000001.10:g.229473426_229473427insAAAAAAAAAAAAAAAA, NC_000001.10:g.229473426_229473427insAAAAAAAAAAAAAAAAA, NC_000001.10:g.229473426_229473427insAAAAAAAAAAAAAAAAAA, NC_000001.10:g.229473426_229473427insAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.229473426_229473427insAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.229473426_229473427insAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.229473426_229473427insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.229473426_229473427insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.229473426_229473427insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.229473426_229473427insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.229473426_229473427insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.229473426_229473427insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915376052.

rs1491537605 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:229324429 (GRCh38)
1:229460176 (GRCh37)
Canonical SPDI:: NC_000001.11:229324428:TA:
Gene:: CCSAP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000009/1 (GnomAD)
HGVS:: NC_000001.11:g.229324429_229324430del, NC_000001.10:g.229460176_229460177del, NM_145257.5:c.*805_*806del, NM_145257.4:c.*805_*806del, NM_145257.3:c.*805_*806del, XM_047444687.1:c.*805_*806del, NM_001410936.1:c.*805_*806del

Select item 14914994203.

rs1491499420 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAA [Show Flanks]
Chromosome:: 1:229337671 (GRCh38)
1:229473419 (GRCh37)
Canonical SPDI:: NC_000001.11:229337671:AAAA:AAAACAAAA
Gene:: CCSAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAACAAAA=0./0 (ALFA)
AAAAC=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.229337672_229337675A[4]CAAAA[1], NC_000001.10:g.229473419_229473422A[4]CAAAA[1]

Select item 14914210314.

rs1491421031 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:229331790 (GRCh38)
1:229467537 (GRCh37)
Canonical SPDI:: NC_000001.11:229331788:TAT:T
Gene:: CCSAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.229331790_229331791del, NC_000001.10:g.229467537_229467538del

Select item 14913873805.

rs1491387380 has merged into rs397733324 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 1:229337717 (GRCh38)
1:229473464 (GRCh37)
Canonical SPDI:: NC_000001.11:229337706:ATATATATATAT:ATATATATAT,NC_000001.11:229337706:ATATATATATAT:ATATATATATATAT,NC_000001.11:229337706:ATATATATATAT:ATATATATATATATAT,NC_000001.11:229337706:ATATATATATAT:ATATATATATATATATAT,NC_000001.11:229337706:ATATATATATAT:ATATATATATATATATATAT,NC_000001.11:229337706:ATATATATATAT:ATATATATATATATATATATAT,NC_000001.11:229337706:ATATATATATAT:ATATATATATATATATATATATAT,NC_000001.11:229337706:ATATATATATAT:ATATATATATATATATATATATATAT,NC_000001.11:229337706:ATATATATATAT:ATATATATATATATATATATATATATAT,NC_000001.11:229337706:ATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000001.11:229337706:ATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000001.11:229337706:ATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000001.11:229337706:ATATATATATAT:ATATATATATATATATATATATATATATATATATATAT
Gene:: CCSAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000001.11:g.229337707AT[5], NC_000001.11:g.229337707AT[7], NC_000001.11:g.229337707AT[8], NC_000001.11:g.229337707AT[9], NC_000001.11:g.229337707AT[10], NC_000001.11:g.229337707AT[11], NC_000001.11:g.229337707AT[12], NC_000001.11:g.229337707AT[13], NC_000001.11:g.229337707AT[14], NC_000001.11:g.229337707AT[15], NC_000001.11:g.229337707AT[16], NC_000001.11:g.229337707AT[17], NC_000001.11:g.229337707AT[19], NC_000001.10:g.229473454AT[5], NC_000001.10:g.229473454AT[7], NC_000001.10:g.229473454AT[8], NC_000001.10:g.229473454AT[9], NC_000001.10:g.229473454AT[10], NC_000001.10:g.229473454AT[11], NC_000001.10:g.229473454AT[12], NC_000001.10:g.229473454AT[13], NC_000001.10:g.229473454AT[14], NC_000001.10:g.229473454AT[15], NC_000001.10:g.229473454AT[16], NC_000001.10:g.229473454AT[17], NC_000001.10:g.229473454AT[19]

Select item 14911481296.

rs1491148129 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATATATAT [Show Flanks]
Chromosome:: 1:229337707 (GRCh38)
1:229473455 (GRCh37)
Canonical SPDI:: NC_000001.11:229337707:TATATATAT:TATATATATGTATATATAT
Gene:: CCSAP (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.229337708_229337716TA[4]TGTATATATAT[1], NC_000001.10:g.229473455_229473463TA[4]TGTATATATAT[1]

Select item 14911389467.

rs1491138946 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:229327867 (GRCh38)
1:229463614 (GRCh37)
Canonical SPDI:: NC_000001.11:229327866:CA:
Gene:: CCSAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.229327867_229327868del, NC_000001.10:g.229463614_229463615del

Select item 14908821018.

rs1490882101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:229343639 (GRCh38)
1:229479386 (GRCh37)
Canonical SPDI:: NC_000001.11:229343638:C:A
Gene:: CCSAP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.229343639C>A, NC_000001.10:g.229479386C>A

Select item 14908720709.

rs1490872070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:229344522 (GRCh38)
1:229480269 (GRCh37)
Canonical SPDI:: NC_000001.11:229344521:C:G
Gene:: CCSAP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.229344522C>G, NC_000001.10:g.229480269C>G, NG_076594.1:g.421C>G

Select item 149077769010.

rs1490777690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:229330127 (GRCh38)
1:229465874 (GRCh37)
Canonical SPDI:: NC_000001.11:229330126:A:G
Gene:: CCSAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.229330127A>G, NC_000001.10:g.229465874A>G

Select item 149061304511.

rs1490613045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:229330578 (GRCh38)
1:229466325 (GRCh37)
Canonical SPDI:: NC_000001.11:229330577:C:G
Gene:: CCSAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.229330578C>G, NC_000001.10:g.229466325C>G

Select item 149048331712.

rs1490483317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:229337451 (GRCh38)
1:229473198 (GRCh37)
Canonical SPDI:: NC_000001.11:229337450:T:C
Gene:: CCSAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.229337451T>C, NC_000001.10:g.229473198T>C

Select item 149034632013.

rs1490346320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:229338026 (GRCh38)
1:229473773 (GRCh37)
Canonical SPDI:: NC_000001.11:229338025:C:T
Gene:: CCSAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.229338026C>T, NC_000001.10:g.229473773C>T

Select item 149011207414.

rs1490112074 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:229335189 (GRCh38)
1:229470936 (GRCh37)
Canonical SPDI:: NC_000001.11:229335188:C:G,NC_000001.11:229335188:C:T
Gene:: CCSAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.229335189C>G, NC_000001.11:g.229335189C>T, NC_000001.10:g.229470936C>G, NC_000001.10:g.229470936C>T

Select item 149008836215.

rs1490088362 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:229343967 (GRCh38)
1:229479714 (GRCh37)
Canonical SPDI:: NC_000001.11:229343966:T:G
Gene:: CCSAP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.229343967T>G, NC_000001.10:g.229479714T>G

Select item 149007102416.

rs1490071024 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:229331455 (GRCh38)
1:229467202 (GRCh37)
Canonical SPDI:: NC_000001.11:229331454:A:G
Gene:: CCSAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.229331455A>G, NC_000001.10:g.229467202A>G

Select item 148991473017.

rs1489914730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:229333819 (GRCh38)
1:229469566 (GRCh37)
Canonical SPDI:: NC_000001.11:229333818:T:C
Gene:: CCSAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.229333819T>C, NC_000001.10:g.229469566T>C

Select item 148979217218.

rs1489792172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:229330847 (GRCh38)
1:229466594 (GRCh37)
Canonical SPDI:: NC_000001.11:229330846:A:G
Gene:: CCSAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.229330847A>G, NC_000001.10:g.229466594A>G

Select item 148970884119.

rs1489708841 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:229336748 (GRCh38)
1:229472495 (GRCh37)
Canonical SPDI:: NC_000001.11:229336747:T:C,NC_000001.11:229336747:T:G
Gene:: CCSAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.229336748T>C, NC_000001.11:g.229336748T>G, NC_000001.10:g.229472495T>C, NC_000001.10:g.229472495T>G

Select item 148966814220.

rs1489668142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:229325438 (GRCh38)
1:229461185 (GRCh37)
Canonical SPDI:: NC_000001.11:229325437:G:C
Gene:: CCSAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.229325438G>C, NC_000001.10:g.229461185G>C

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