SNP Links for Gene (Select 127003) - SNP

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Select item 14915502491.

rs1491550249 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:109109554 (GRCh38)
1:109652176 (GRCh37)
Canonical SPDI:: NC_000001.11:109109553:TG:
Gene:: CFAP276 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00278/33 (ALFA)
HGVS:: NC_000001.11:g.109109554_109109555del, NC_000001.10:g.109652176_109652177del, NG_032763.1:g.592_593del

Select item 14914317652.

rs1491431765 has merged into rs113809565 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:109107872 (GRCh38)
1:109650494 (GRCh37)
Canonical SPDI:: NC_000001.11:109107862:AAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:109107862:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:109107862:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:109107862:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:109107862:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:109107862:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:109107862:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: CFAP276 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.07047/42 (NorthernSweden)
HGVS:: NC_000001.11:g.109107872_109107875del, NC_000001.11:g.109107873_109107875del, NC_000001.11:g.109107874_109107875del, NC_000001.11:g.109107875del, NC_000001.11:g.109107875dup, NC_000001.11:g.109107874_109107875dup, NC_000001.11:g.109107868_109107875dup, NC_000001.10:g.109650494_109650497del, NC_000001.10:g.109650495_109650497del, NC_000001.10:g.109650496_109650497del, NC_000001.10:g.109650497del, NC_000001.10:g.109650497dup, NC_000001.10:g.109650496_109650497dup, NC_000001.10:g.109650490_109650497dup

Select item 14912885133.

rs1491288513 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTA [Show Flanks]
Chromosome:: 1:109109554 (GRCh38)
1:109652177 (GRCh37)
Canonical SPDI:: NC_000001.11:109109554::TTA
Gene:: CFAP276 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.109109554_109109555insTTA, NC_000001.10:g.109652176_109652177insTTA, NG_032763.1:g.592_593insTTA

Select item 14912870194.

rs1491287019 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:109105881 (GRCh38)
1:109648503 (GRCh37)
Canonical SPDI:: NC_000001.11:109105880:CA:
Gene:: CFAP276 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109105881_109105882del, NC_000001.10:g.109648503_109648504del

Select item 14909830305.

rs1490983030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:109105915 (GRCh38)
1:109648537 (GRCh37)
Canonical SPDI:: NC_000001.11:109105914:G:T
Gene:: CFAP276 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109105915G>T, NC_000001.10:g.109648537G>T

Select item 14906089046.

rs1490608904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109112044 (GRCh38)
1:109654666 (GRCh37)
Canonical SPDI:: NC_000001.11:109112043:C:T
Gene:: CFAP276 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109112044C>T, NC_000001.10:g.109654666C>T, NG_032763.1:g.3082C>T

Select item 14902212817.

rs1490221281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109106983 (GRCh38)
1:109649605 (GRCh37)
Canonical SPDI:: NC_000001.11:109106982:A:G
Gene:: CFAP276 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.109106983A>G, NC_000001.10:g.109649605A>G

Select item 14897317648.

rs1489731764 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:109110827 (GRCh38)
1:109653449 (GRCh37)
Canonical SPDI:: NC_000001.11:109110826:T:A
Gene:: CFAP276 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.109110827T>A, NC_000001.10:g.109653449T>A, NG_032763.1:g.1865T>A

Select item 14896593709.

rs1489659370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109107983 (GRCh38)
1:109650605 (GRCh37)
Canonical SPDI:: NC_000001.11:109107982:G:A
Gene:: CFAP276 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.109107983G>A, NC_000001.10:g.109650605G>A, NM_001366200.3:c.130C>T, NM_001366200.2:c.130C>T, NM_001366200.1:c.130C>T, NM_001122961.3:c.100C>T, NM_001122961.2:c.100C>T, NM_001122961.1:c.100C>T, XM_011540647.3:c.166C>T, XM_011540647.2:c.463C>T, XM_011540647.1:c.463C>T, NM_001245025.3:c.136C>T, NM_001245025.2:c.136C>T, NM_001245025.1:c.136C>T, NP_001353129.1:p.Arg44Trp, NP_001116433.1:p.Arg34Trp, XP_011538949.2:p.Arg56Trp, NP_001231954.1:p.Arg46Trp

Select item 148937696310.

rs1489376963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109111405 (GRCh38)
1:109654027 (GRCh37)
Canonical SPDI:: NC_000001.11:109111404:G:A
Gene:: CFAP276 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109111405G>A, NC_000001.10:g.109654027G>A, NG_032763.1:g.2443G>A

Select item 148936814511.

rs1489368145 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCACGCCGCGC>- [Show Flanks]
Chromosome:: 1:109113870 (GRCh38)
1:109656492 (GRCh37)
Canonical SPDI:: NC_000001.11:109113863:CCGCGCCCACGCCGCGC:CCGCGC
Gene:: ELAPOR1 (Varview), CFAP276 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CCGCGC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.109113870_109113880del, NC_000001.10:g.109656492_109656502del, NG_032763.1:g.4908_4918del

Select item 148932545512.

rs1489325455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109112585 (GRCh38)
1:109655207 (GRCh37)
Canonical SPDI:: NC_000001.11:109112584:A:G
Gene:: ELAPOR1 (Varview), CFAP276 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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.109112585A>G, NC_000001.10:g.109655207A>G, NG_032763.1:g.3623A>G

Select item 148931276213.

rs1489312762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:109114853 (GRCh38)
1:109657475 (GRCh37)
Canonical SPDI:: NC_000001.11:109114852:T:C
Gene:: ELAPOR1 (Varview), CFAP276 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_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_000001.11:g.109114853T>C, NC_000001.10:g.109657475T>C, NG_032763.1:g.5891T>C

Select item 148908440414.

rs1489084404 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:109111488 (GRCh38)
1:109654110 (GRCh37)
Canonical SPDI:: NC_000001.11:109111487:T:A
Gene:: CFAP276 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000047/5 (GnomAD)
HGVS:: NC_000001.11:g.109111488T>A, NC_000001.10:g.109654110T>A, NG_032763.1:g.2526T>A

Select item 148882145615.

rs1488821456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109109862 (GRCh38)
1:109652484 (GRCh37)
Canonical SPDI:: NC_000001.11:109109861:G:A
Gene:: CFAP276 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109109862G>A, NC_000001.10:g.109652484G>A, NG_032763.1:g.900G>A

Select item 148819677616.

rs1488196776 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGAGAGA>- [Show Flanks]
Chromosome:: 1:109113416 (GRCh38)
1:109656038 (GRCh37)
Canonical SPDI:: NC_000001.11:109113408:AGAGAGAAAGAGAGA:AGAGAGA
Gene:: ELAPOR1 (Varview), CFAP276 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGA=0.000674/8 (ALFA)
-=0.000584/61 (GnomAD)
-=0.000856/14 (TOMMO)
HGVS:: NC_000001.11:g.109113416_109113423del, NC_000001.10:g.109656038_109656045del, NG_032763.1:g.4454_4461del

Select item 148780006517.

rs1487800065 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109109115 (GRCh38)
1:109651737 (GRCh37)
Canonical SPDI:: NC_000001.11:109109114:A:G
Gene:: CFAP276 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.109109115A>G, NC_000001.10:g.109651737A>G, NG_032763.1:g.153A>G

Select item 148779033418.

rs1487790334 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109106451 (GRCh38)
1:109649073 (GRCh37)
Canonical SPDI:: NC_000001.11:109106450:A:G
Gene:: CFAP276 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.109106451A>G, NC_000001.10:g.109649073A>G

Select item 148770027119.

rs1487700271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109113052 (GRCh38)
1:109655674 (GRCh37)
Canonical SPDI:: NC_000001.11:109113051:C:T
Gene:: ELAPOR1 (Varview), CFAP276 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.109113052C>T, NC_000001.10:g.109655674C>T, NG_032763.1:g.4090C>T