SNP Links for Gene (Select 100506621) - SNP

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Select item 14913396031.

rs1491339603 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:112601699 (GRCh38)
3:112320546 (GRCh37)
Canonical SPDI:: NC_000003.12:112601695:AGAGA:AGA
Gene:: CCDC80 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
-=0.00011/2 (TOMMO)
-=0.00027/7 (GnomAD)
GA=0.22989/886 (ALSPAC)
GA=0.24272/900 (TWINSUK)
HGVS:: NC_000003.12:g.112601697GA[1], NC_000003.11:g.112320544GA[1], NM_199511.3:c.*3718CT[1], NM_199512.3:c.*3718CT[1], XM_047447495.1:c.*3718CT[1], NR_109779.1:n.271CT[1]

Select item 14913004052.

rs1491300405 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:112601696 (GRCh38)
3:112320544 (GRCh37)
Canonical SPDI:: NC_000003.12:112601696::C
Gene:: CCDC80 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
C=0.00007/2 (GnomAD)
HGVS:: NC_000003.12:g.112601696_112601697insC, NC_000003.11:g.112320543_112320544insC, NM_199511.3:c.*3720_*3721insG, NM_199512.3:c.*3720_*3721insG, XM_047447495.1:c.*3720_*3721insG, NR_109779.1:n.273_274insG

Select item 14910378173.

rs1491037817 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:112596662 (GRCh38)
3:112315509 (GRCh37)
Canonical SPDI:: NC_000003.12:112596659:ATAT:AT
Gene:: CCDC80 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
HGVS:: NC_000003.12:g.112596660AT[1], NC_000003.11:g.112315507AT[1]

Select item 14907604384.

rs1490760438 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTGGCC>- [Show Flanks]
Chromosome:: 3:112599216 (GRCh38)
3:112318063 (GRCh37)
Canonical SPDI:: NC_000003.12:112599213:CCAGTGGCC:CC
Gene:: CCDC80 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000003.12:g.112599216_112599222del, NC_000003.11:g.112318063_112318069del, NM_199511.3:c.*6197_*6203del, NM_199512.3:c.*6197_*6203del, XM_047447495.1:c.*6197_*6203del, NR_109779.1:n.2750_2756del

Select item 14907265805.

rs1490726580 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAT>- [Show Flanks]
Chromosome:: 3:112601344 (GRCh38)
3:112320191 (GRCh37)
Canonical SPDI:: NC_000003.12:112601340:AATTAAT:AAT
Gene:: CCDC80 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAT=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.112601344_112601347del, NC_000003.11:g.112320191_112320194del, NM_199511.3:c.*4073_*4076del, NM_199512.3:c.*4073_*4076del, XM_047447495.1:c.*4073_*4076del, NR_109779.1:n.626_629del

Select item 14905622216.

rs1490562221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:112602490 (GRCh38)
3:112321337 (GRCh37)
Canonical SPDI:: NC_000003.12:112602489:T:C
Gene:: CCDC80 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.112602490T>C, NC_000003.11:g.112321337T>C, NM_199511.3:c.*2927A>G, NM_199512.3:c.*2927A>G, XM_047447495.1:c.*2927A>G

Select item 14903682217.

rs1490368221 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACTTAGG>- [Show Flanks]
Chromosome:: 3:112599086 (GRCh38)
3:112317933 (GRCh37)
Canonical SPDI:: NC_000003.12:112599077:AACTTAGGAACTTAGG:AACTTAGG
Gene:: CCDC80 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AACTTAGGAACTTAGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.112599078AACTTAGG[1], NC_000003.11:g.112317925AACTTAGG[1], NM_199511.3:c.*6324CCTAAGTT[1], NM_199512.3:c.*6324CCTAAGTT[1], XM_047447495.1:c.*6324CCTAAGTT[1], NR_109779.1:n.2877CCTAAGTT[1]

Select item 14902371188.

rs1490237118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 3:112600408 (GRCh38)
3:112319255 (GRCh37)
Canonical SPDI:: NC_000003.12:112600407:T:A,NC_000003.12:112600407:T:G
Gene:: CCDC80 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.112600408T>A, NC_000003.12:g.112600408T>G, NC_000003.11:g.112319255T>A, NC_000003.11:g.112319255T>G, NM_199511.3:c.*5009A>T, NM_199511.3:c.*5009A>C, NM_199512.3:c.*5009A>T, NM_199512.3:c.*5009A>C, XM_047447495.1:c.*5009A>T, XM_047447495.1:c.*5009A>C, NR_109779.1:n.1562A>T, NR_109779.1:n.1562A>C

Select item 14894364909.

rs1489436490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:112596593 (GRCh38)
3:112315440 (GRCh37)
Canonical SPDI:: NC_000003.12:112596592:C:A
Gene:: CCDC80 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.112596593C>A, NC_000003.11:g.112315440C>A

Select item 148899711110.

rs1488997111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:112598918 (GRCh38)
3:112317765 (GRCh37)
Canonical SPDI:: NC_000003.12:112598917:A:G
Gene:: CCDC80 (Varview)
Functional Consequence:: 3_prime_UTR_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_000003.12:g.112598918A>G, NC_000003.11:g.112317765A>G, NM_199511.3:c.*6499T>C, NM_199512.3:c.*6499T>C, XM_047447495.1:c.*6499T>C, NR_109779.1:n.3052T>C

Select item 148849350311.

rs1488493503 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 3:112596744 (GRCh38)
3:112315591 (GRCh37)
Canonical SPDI:: NC_000003.12:112596743:T:
Gene:: CCDC80 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.112596744del, NC_000003.11:g.112315591del

Select item 148832635912.

rs1488326359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:112601185 (GRCh38)
3:112320032 (GRCh37)
Canonical SPDI:: NC_000003.12:112601184:C:G,NC_000003.12:112601184:C:T
Gene:: CCDC80 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.112601185C>G, NC_000003.12:g.112601185C>T, NC_000003.11:g.112320032C>G, NC_000003.11:g.112320032C>T, NM_199511.3:c.*4232G>C, NM_199511.3:c.*4232G>A, NM_199512.3:c.*4232G>C, NM_199512.3:c.*4232G>A, XM_047447495.1:c.*4232G>C, XM_047447495.1:c.*4232G>A, NR_109779.1:n.785G>C, NR_109779.1:n.785G>A

Select item 148828868113.

rs1488288681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:112603910 (GRCh38)
3:112322757 (GRCh37)
Canonical SPDI:: NC_000003.12:112603909:C:T
Gene:: CCDC80 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.112603910C>T, NC_000003.11:g.112322757C>T, NM_199511.3:c.*1507G>A, NM_199512.3:c.*1507G>A, XM_047447495.1:c.*1507G>A

Select item 148699182414.

rs1486991824 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:112601045 (GRCh38)
3:112319892 (GRCh37)
Canonical SPDI:: NC_000003.12:112601044:G:A
Gene:: CCDC80 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.112601045G>A, NC_000003.11:g.112319892G>A, NM_199511.3:c.*4372C>T, NM_199512.3:c.*4372C>T, XM_047447495.1:c.*4372C>T, NR_109779.1:n.925C>T

Select item 148637199915.

rs1486371999 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:112601888 (GRCh38)
3:112320735 (GRCh37)
Canonical SPDI:: NC_000003.12:112601887:T:C
Gene:: CCDC80 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.112601888T>C, NC_000003.11:g.112320735T>C, NM_199511.3:c.*3529A>G, NM_199512.3:c.*3529A>G, XM_047447495.1:c.*3529A>G, NR_109779.1:n.82A>G

Select item 148512726916.

rs1485127269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:112602842 (GRCh38)
3:112321689 (GRCh37)
Canonical SPDI:: NC_000003.12:112602841:G:T
Gene:: CCDC80 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.112602842G>T, NC_000003.11:g.112321689G>T, NM_199511.3:c.*2575C>A, NM_199512.3:c.*2575C>A, XM_047447495.1:c.*2575C>A

Select item 148487284017.

rs1484872840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:112603674 (GRCh38)
3:112322521 (GRCh37)
Canonical SPDI:: NC_000003.12:112603673:G:A
Gene:: CCDC80 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.112603674G>A, NC_000003.11:g.112322521G>A, NM_199511.3:c.*1743C>T, NM_199512.3:c.*1743C>T, XM_047447495.1:c.*1743C>T

Select item 148343140718.

rs1483431407 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:112596460 (GRCh38)
3:112315307 (GRCh37)
Canonical SPDI:: NC_000003.12:112596459:T:A
Gene:: CCDC80 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.112596460T>A, NC_000003.11:g.112315307T>A

Select item 148314081419.

rs1483140814 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:112599997 (GRCh38)
3:112318844 (GRCh37)
Canonical SPDI:: NC_000003.12:112599995:TGT:T
Gene:: CCDC80 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000079/21 (TOPMED)
-=0.000086/12 (GnomAD)
HGVS:: NC_000003.12:g.112599997_112599998del, NC_000003.11:g.112318844_112318845del, NM_199511.3:c.*5420_*5421del, NM_199512.3:c.*5420_*5421del, XM_047447495.1:c.*5420_*5421del, NR_109779.1:n.1973_1974del

Select item 148307308920.

rs1483073089 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTT>- [Show Flanks]
Chromosome:: 3:112597600 (GRCh38)
3:112316447 (GRCh37)
Canonical SPDI:: NC_000003.12:112597597:TTTCTT:TT
Gene:: CCDC80 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.112597600_112597603del, NC_000003.11:g.112316447_112316450del, NM_199511.3:c.*7816_*7819del, NM_199512.3:c.*7816_*7819del, XM_047447495.1:c.*7816_*7819del, NR_109779.1:n.4369_4372del

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