SNP Links for Gene (Select 84131) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 10196

<< First< Prev

Page of 510

Next >Last >>

Select item 14915238681.

rs1491523868 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:78276084 (GRCh38)
9:80891000 (GRCh37)
Canonical SPDI:: NC_000009.12:78276080:ACACA:ACA
Gene:: CEP78 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.78276082CA[1], NC_000009.11:g.80890998CA[1], NG_053171.1:g.45021CA[1], NM_001330691.3:c.*5231CA[1], NM_001330691.2:c.*5231CA[1], NM_001330693.3:c.*5231CA[1], NM_001330693.2:c.*5231CA[1], NM_001349839.2:c.*5231CA[1], NM_001349839.1:c.*5231CA[1], NM_001349840.2:c.*5231CA[1], NM_001349840.1:c.*5231CA[1]

Select item 14914761122.

rs1491476112 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGC [Show Flanks]
Chromosome:: 9:78276081 (GRCh38)
9:80890998 (GRCh37)
Canonical SPDI:: NC_000009.12:78276081:C:CTGC
Gene:: CEP78 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTGC=0./0 (ALFA)
CTG=0.000014/2 (GnomAD)
CTG=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.78276082_78276083insTGC, NC_000009.11:g.80890998_80890999insTGC, NG_053171.1:g.45021_45022insTGC, NM_001330691.3:c.*5231_*5232insTGC, NM_001330691.2:c.*5231_*5232insTGC, NM_001330693.3:c.*5231_*5232insTGC, NM_001330693.2:c.*5231_*5232insTGC, NM_001349839.2:c.*5231_*5232insTGC, NM_001349839.1:c.*5231_*5232insTGC, NM_001349840.2:c.*5231_*5232insTGC, NM_001349840.1:c.*5231_*5232insTGC

Select item 14910400883.

rs1491040088 has merged into rs35270879 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 9:78243830 (GRCh38)
9:80858746 (GRCh37)
Canonical SPDI:: NC_000009.12:78243819:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:78243819:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:78243819:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:78243819:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:78243819:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:78243819:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: CEP78 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.22517/823 (1000Genomes)
A=0.37909/1461 (ALSPAC)
A=0.38134/1414 (TWINSUK)
HGVS:: NC_000009.12:g.78243830_78243832del, NC_000009.12:g.78243831_78243832del, NC_000009.12:g.78243832del, NC_000009.12:g.78243832dup, NC_000009.12:g.78243831_78243832dup, NC_000009.12:g.78243830_78243832dup, NC_000009.11:g.80858746_80858748del, NC_000009.11:g.80858747_80858748del, NC_000009.11:g.80858748del, NC_000009.11:g.80858748dup, NC_000009.11:g.80858747_80858748dup, NC_000009.11:g.80858746_80858748dup, NG_053171.1:g.12769_12771del, NG_053171.1:g.12770_12771del, NG_053171.1:g.12771del, NG_053171.1:g.12771dup, NG_053171.1:g.12770_12771dup, NG_053171.1:g.12769_12771dup

Select item 14909952214.

rs1490995221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:78261689 (GRCh38)
9:80876605 (GRCh37)
Canonical SPDI:: NC_000009.12:78261688:C:G
Gene:: CEP78 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.78261689C>G, NC_000009.11:g.80876605C>G, NG_053171.1:g.30628C>G

Select item 14908222395.

rs1490822239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:78253446 (GRCh38)
9:80868362 (GRCh37)
Canonical SPDI:: NC_000009.12:78253445:A:G
Gene:: CEP78 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.78253446A>G, NC_000009.11:g.80868362A>G, NG_053171.1:g.22385A>G

Select item 14907691116.

rs1490769111 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:78237599 (GRCh38)
9:80852515 (GRCh37)
Canonical SPDI:: NC_000009.12:78237598:T:C
Gene:: CEP78 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.78237599T>C, NC_000009.11:g.80852515T>C, NG_053171.1:g.6538T>C

Select item 14905854247.

rs1490585424 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACAA>- [Show Flanks]
Chromosome:: 9:78237953 (GRCh38)
9:80852869 (GRCh37)
Canonical SPDI:: NC_000009.12:78237950:AATACAA:AA
Gene:: CEP78 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000009.12:g.78237953_78237957del, NC_000009.11:g.80852869_80852873del, NG_053171.1:g.6892_6896del

Select item 14905011938.

rs1490501193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:78260685 (GRCh38)
9:80875601 (GRCh37)
Canonical SPDI:: NC_000009.12:78260684:C:T
Gene:: CEP78 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000169/2 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000055/7 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000009.12:g.78260685C>T, NC_000009.11:g.80875601C>T, NG_053171.1:g.29624C>T

Select item 14904659339.

rs1490465933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:78261295 (GRCh38)
9:80876211 (GRCh37)
Canonical SPDI:: NC_000009.12:78261294:C:T
Gene:: CEP78 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000009.12:g.78261295C>T, NC_000009.11:g.80876211C>T, NG_053171.1:g.30234C>T

Select item 149039578310.

rs1490395783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:78260503 (GRCh38)
9:80875419 (GRCh37)
Canonical SPDI:: NC_000009.12:78260502:C:A,NC_000009.12:78260502:C:G,NC_000009.12:78260502:C:T
Gene:: CEP78 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000009.12:g.78260503C>A, NC_000009.12:g.78260503C>G, NC_000009.12:g.78260503C>T, NC_000009.11:g.80875419C>A, NC_000009.11:g.80875419C>G, NC_000009.11:g.80875419C>T, NG_053171.1:g.29442C>A, NG_053171.1:g.29442C>G, NG_053171.1:g.29442C>T

Select item 149037586311.

rs1490375863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:78245187 (GRCh38)
9:80860103 (GRCh37)
Canonical SPDI:: NC_000009.12:78245186:A:C
Gene:: CEP78 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.78245187A>C, NC_000009.11:g.80860103A>C, NG_053171.1:g.14126A>C

Select item 149030128612.

rs1490301286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:78251950 (GRCh38)
9:80866866 (GRCh37)
Canonical SPDI:: NC_000009.12:78251949:C:T
Gene:: CEP78 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.78251950C>T, NC_000009.11:g.80866866C>T, NG_053171.1:g.20889C>T, NM_001330691.3:c.1112C>T, NM_001330691.2:c.1112C>T, NM_001330691.1:c.1112C>T, NM_001330693.3:c.1112C>T, NM_001330693.2:c.1112C>T, NM_001330693.1:c.1112C>T, NM_001098802.3:c.1115C>T, NM_001098802.2:c.1115C>T, NM_001098802.1:c.1115C>T, NM_032171.3:c.1115C>T, NM_032171.2:c.1115C>T, NM_032171.1:c.1115C>T, NM_001349839.2:c.1115C>T, NM_001349839.1:c.1115C>T, NM_001349840.2:c.1115C>T, NM_001349840.1:c.1115C>T, NM_001349838.2:c.1112C>T, NM_001349838.1:c.1112C>T, NM_001330694.2:c.1112C>T, NM_001330694.1:c.1112C>T, NP_001317620.1:p.Ser371Phe, NP_001317622.1:p.Ser371Phe, NP_001092272.1:p.Ser372Phe, NP_115547.1:p.Ser372Phe, NP_001336768.1:p.Ser372Phe, NP_001336769.1:p.Ser372Phe, NP_001336767.1:p.Ser371Phe, NP_001317623.1:p.Ser371Phe

Select item 149022430013.

rs1490224300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:78245910 (GRCh38)
9:80860826 (GRCh37)
Canonical SPDI:: NC_000009.12:78245909:C:A,NC_000009.12:78245909:C:T
Gene:: CEP78 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000009.12:g.78245910C>A, NC_000009.12:g.78245910C>T, NC_000009.11:g.80860826C>A, NC_000009.11:g.80860826C>T, NG_053171.1:g.14849C>A, NG_053171.1:g.14849C>T

Select item 149008748814.

rs1490087488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:78235241 (GRCh38)
9:80850157 (GRCh37)
Canonical SPDI:: NC_000009.12:78235240:C:A
Gene:: CEP78 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.0003/1 (KOREAN)
A=0.0005/1 (Korea1K)
HGVS:: NC_000009.12:g.78235241C>A, NC_000009.11:g.80850157C>A, NG_053171.1:g.4180C>A

Select item 149000130415.

rs1490001304 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATG>- [Show Flanks]
Chromosome:: 9:78277110 (GRCh38)
9:80892026 (GRCh37)
Canonical SPDI:: NC_000009.12:78277106:ATGATG:ATG
Gene:: CEP78 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: ATGATG=0./0 (ALFA)
HGVS:: NC_000009.12:g.78277107ATG[1], NC_000009.11:g.80892023ATG[1], NG_053171.1:g.46046ATG[1], NM_001330691.3:c.*6256ATG[1], NM_001330691.2:c.*6256ATG[1], NM_001330693.3:c.*6256ATG[1], NM_001330693.2:c.*6256ATG[1], NM_001349839.2:c.*6256ATG[1], NM_001349839.1:c.*6256ATG[1], NM_001349840.2:c.*6256ATG[1], NM_001349840.1:c.*6256ATG[1]

Select item 148993748716.

rs1489937487 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:78260041 (GRCh38)
9:80874957 (GRCh37)
Canonical SPDI:: NC_000009.12:78260040:T:G
Gene:: CEP78 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.78260041T>G, NC_000009.11:g.80874957T>G, NG_053171.1:g.28980T>G

Select item 148986085417.

rs1489860854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:78243709 (GRCh38)
9:80858625 (GRCh37)
Canonical SPDI:: NC_000009.12:78243708:G:A
Gene:: CEP78 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.78243709G>A, NC_000009.11:g.80858625G>A, NG_053171.1:g.12648G>A

Select item 148964668918.

rs1489646689 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:78270758 (GRCh38)
9:80885674 (GRCh37)
Canonical SPDI:: NC_000009.12:78270757:T:C
Gene:: CEP78 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.78270758T>C, NC_000009.11:g.80885674T>C, NG_053171.1:g.39697T>C

Select item 148960280719.

rs1489602807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:78257044 (GRCh38)
9:80871960 (GRCh37)
Canonical SPDI:: NC_000009.12:78257043:G:C
Gene:: CEP78 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000009.12:g.78257044G>C, NC_000009.11:g.80871960G>C, NG_053171.1:g.25983G>C

Select item 148955380020.

rs1489553800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:78239528 (GRCh38)
9:80854444 (GRCh37)
Canonical SPDI:: NC_000009.12:78239527:C:A
Gene:: CEP78 (Varview)
Functional Consequence:: intron_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_000009.12:g.78239528C>A, NC_000009.11:g.80854444C>A, NG_053171.1:g.8467C>A

<< First< Prev

Page of 510

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Gene (Select 84131) (10196)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: