SNP Links for Gene (Select 388701) - SNP

Links from Gene

Items: 1 to 20 of 2354

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Select item 14909346811.

rs1490934681 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 1:154203077 (GRCh38)
1:154175553 (GRCh37)
Canonical SPDI:: NC_000001.11:154203076:C:
Gene:: CFAP141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.154203077del, NC_000001.10:g.154175553del

Select item 14897831752.

rs1489783175 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:154203214 (GRCh38)
1:154175690 (GRCh37)
Canonical SPDI:: NC_000001.11:154203213:T:A,NC_000001.11:154203213:T:C,NC_000001.11:154203213:T:G
Gene:: CFAP141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00186/30 (TOMMO)
T=0.16667/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.154203214T>A, NC_000001.11:g.154203214T>C, NC_000001.11:g.154203214T>G, NC_000001.10:g.154175690T>A, NC_000001.10:g.154175690T>C, NC_000001.10:g.154175690T>G

Select item 14887485213.

rs1488748521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:154200181 (GRCh38)
1:154172657 (GRCh37)
Canonical SPDI:: NC_000001.11:154200180:G:T
Gene:: CFAP141 (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_000001.11:g.154200181G>T, NC_000001.10:g.154172657G>T

Select item 14887433754.

rs1488743375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:154199712 (GRCh38)
1:154172188 (GRCh37)
Canonical SPDI:: NC_000001.11:154199711:A:G
Gene:: CFAP141 (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.154199712A>G, NC_000001.10:g.154172188A>G

Select item 14881734305.

rs1488173430 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:154201252 (GRCh38)
1:154173728 (GRCh37)
Canonical SPDI:: NC_000001.11:154201251:T:C
Gene:: CFAP141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.154201252T>C, NC_000001.10:g.154173728T>C

Select item 14880493326.

rs1488049332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:154201791 (GRCh38)
1:154174267 (GRCh37)
Canonical SPDI:: NC_000001.11:154201790:G:C,NC_000001.11:154201790:G:T
Gene:: CFAP141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.154201791G>C, NC_000001.11:g.154201791G>T, NC_000001.10:g.154174267G>C, NC_000001.10:g.154174267G>T

Select item 14874972517.

rs1487497251 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAATAAATA [Show Flanks]
Chromosome:: 1:154204120 (GRCh38)
1:154176597 (GRCh37)
Canonical SPDI:: NC_000001.11:154204120:A:ATAAATAAATA
Gene:: CFAP141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAAATAAATA=0./0 (ALFA)
HGVS:: NC_000001.11:g.154204121ATAA[2]ATA[1], NC_000001.10:g.154176597ATAA[2]ATA[1]

Select item 14871898698.

rs1487189869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:154202507 (GRCh38)
1:154174983 (GRCh37)
Canonical SPDI:: NC_000001.11:154202506:T:C
Gene:: CFAP141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.154202507T>C, NC_000001.10:g.154174983T>C

Select item 14870884069.

rs1487088406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:154199930 (GRCh38)
1:154172406 (GRCh37)
Canonical SPDI:: NC_000001.11:154199929:G:C
Gene:: CFAP141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.154199930G>C, NC_000001.10:g.154172406G>C

Select item 148702902410.

rs1487029024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:154206087 (GRCh38)
1:154178563 (GRCh37)
Canonical SPDI:: NC_000001.11:154206086:G:A,NC_000001.11:154206086:G:T
Gene:: CFAP141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.154206087G>A, NC_000001.11:g.154206087G>T, NC_000001.10:g.154178563G>A, NC_000001.10:g.154178563G>T

Select item 148675636011.

rs1486756360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:154199834 (GRCh38)
1:154172310 (GRCh37)
Canonical SPDI:: NC_000001.11:154199833:G:C
Gene:: CFAP141 (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_000001.11:g.154199834G>C, NC_000001.10:g.154172310G>C

Select item 148673375512.

rs1486733755 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTTC>- [Show Flanks]
Chromosome:: 1:154199969 (GRCh38)
1:154172445 (GRCh37)
Canonical SPDI:: NC_000001.11:154199966:TCGTTTC:TC
Gene:: CFAP141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TC=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.154199969_154199973del, NC_000001.10:g.154172445_154172449del

Select item 148629834313.

rs1486298343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:154207448 (GRCh38)
1:154179924 (GRCh37)
Canonical SPDI:: NC_000001.11:154207447:C:T
Gene:: C1orf43 (Varview), CFAP141 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154207448C>T, NC_000001.10:g.154179924C>T, NM_015449.4:c.*5G>A, NM_015449.3:c.*5G>A, NM_015449.2:c.*5G>A, NM_138740.4:c.*5G>A, NM_138740.3:c.*5G>A, NM_138740.2:c.*5G>A, NM_001098616.3:c.*5G>A, NM_001098616.2:c.*5G>A, NM_001098616.1:c.*5G>A, NM_001297720.2:c.*5G>A, NM_001297720.1:c.*5G>A, NM_001297718.2:c.*5G>A, NM_001297718.1:c.*5G>A, NM_001297717.2:c.*195G>A, NM_001297717.1:c.*195G>A, XM_047417239.1:c.*5G>A

Select item 148620832114.

rs1486208321 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:154203183 (GRCh38)
1:154175659 (GRCh37)
Canonical SPDI:: NC_000001.11:154203182:A:G
Gene:: CFAP141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.0007/5 (GnomAD)
HGVS:: NC_000001.11:g.154203183A>G, NC_000001.10:g.154175659A>G

Select item 148567266215.

rs1485672662 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:154206801 (GRCh38)
1:154179277 (GRCh37)
Canonical SPDI:: NC_000001.11:154206800:T:A
Gene:: C1orf43 (Varview), CFAP141 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_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.154206801T>A, NC_000001.10:g.154179277T>A, NM_015449.4:c.*652A>T, NM_015449.3:c.*652A>T, NM_015449.2:c.*652A>T, NM_138740.4:c.*652A>T, NM_138740.3:c.*652A>T, NM_138740.2:c.*652A>T, NM_001098616.3:c.*652A>T, NM_001098616.2:c.*652A>T, NM_001098616.1:c.*652A>T, NM_001297720.2:c.*652A>T, NM_001297720.1:c.*652A>T, NM_001297718.2:c.*652A>T, NM_001297718.1:c.*652A>T, NM_001297717.2:c.*842A>T, NM_001297717.1:c.*842A>T, XM_047417239.1:c.*652A>T

Select item 148558054716.

rs1485580547 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCTTTTTCTTTT>- [Show Flanks]
Chromosome:: 1:154200677 (GRCh38)
1:154173153 (GRCh37)
Canonical SPDI:: NC_000001.11:154200668:TTTCTTTTTTCTTTTTCTTTT:TTTCTTTT
Gene:: CFAP141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.154200677_154200689del, NC_000001.10:g.154173153_154173165del

Select item 148553722117.

rs1485537221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:154203248 (GRCh38)
1:154175724 (GRCh37)
Canonical SPDI:: NC_000001.11:154203247:T:C
Gene:: CFAP141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000028/3 (GnomAD)
HGVS:: NC_000001.11:g.154203248T>C, NC_000001.10:g.154175724T>C

Select item 148532881618.

rs1485328816 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:154206782 (GRCh38)
1:154179258 (GRCh37)
Canonical SPDI:: NC_000001.11:154206781:T:C
Gene:: C1orf43 (Varview), CFAP141 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.154206782T>C, NC_000001.10:g.154179258T>C, NM_015449.4:c.*671A>G, NM_015449.3:c.*671A>G, NM_015449.2:c.*671A>G, NM_138740.4:c.*671A>G, NM_138740.3:c.*671A>G, NM_138740.2:c.*671A>G, NM_001098616.3:c.*671A>G, NM_001098616.2:c.*671A>G, NM_001098616.1:c.*671A>G, NM_001297720.2:c.*671A>G, NM_001297720.1:c.*671A>G, NM_001297718.2:c.*671A>G, NM_001297718.1:c.*671A>G, NM_001297717.2:c.*861A>G, NM_001297717.1:c.*861A>G, XM_047417239.1:c.*671A>G

Select item 148526233319.

rs1485262333 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:154204219 (GRCh38)
1:154176695 (GRCh37)
Canonical SPDI:: NC_000001.11:154204218:T:
Gene:: CFAP141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.154204219del, NC_000001.10:g.154176695del

Select item 148502274120.

rs1485022741 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:154207882 (GRCh38)
1:154180358 (GRCh37)
Canonical SPDI:: NC_000001.11:154207881:T:C
Gene:: C1orf43 (Varview), CFAP141 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.154207882T>C, NC_000001.10:g.154180358T>C

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