SNP Links for Gene (Select 10175) - SNP

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Items: 1 to 20 of 3916

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Select item 14910589311.

rs1491058931 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAATTATATATAT,CAATTATATATATGCATTTA [Show Flanks]
Chromosome:: 14:54427993 (GRCh38)
14:54894712 (GRCh37)
Canonical SPDI:: NC_000014.9:54427993::CAATTATATATAT,NC_000014.9:54427993::CAATTATATATATGCATTTA
Gene:: CNIH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAATTATATATATGCATTTA=0./0 (ALFA)
CAATTATATATAT=0.000064/9 (GnomAD)
CAATTATATATAT=0.003123/20 (1000Genomes)
HGVS:: NC_000014.9:g.54427993_54427994insCAATTATATATAT, NC_000014.9:g.54427993_54427994insCAATTATATATATGCATTTA, NC_000014.8:g.54894711_54894712insCAATTATATATAT, NC_000014.8:g.54894711_54894712insCAATTATATATATGCATTTA

Select item 14909631462.

rs1490963146 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 14:54432668 (GRCh38)
14:54899386 (GRCh37)
Canonical SPDI:: NC_000014.9:54432667:AA:A
Gene:: CNIH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.54432669del, NC_000014.8:g.54899387del

Select item 14908210913.

rs1490821091 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:54434870 (GRCh38)
14:54901588 (GRCh37)
Canonical SPDI:: NC_000014.9:54434869:A:G
Gene:: CNIH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000447/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000014.9:g.54434870A>G, NC_000014.8:g.54901588A>G

Select item 14906322024.

rs1490632202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:54427816 (GRCh38)
14:54894534 (GRCh37)
Canonical SPDI:: NC_000014.9:54427815:A:G
Gene:: CNIH1 (Varview)
Functional Consequence:: stop_lost,terminator_codon_variant
Validated:: by frequency,by alfa
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.54427816A>G, NC_000014.8:g.54894534A>G, NM_005776.3:c.433T>C, NM_005776.2:c.433T>C, NM_001009551.1:c.*158T>C, NP_005767.1:p.Ter145Gln

Select item 14905758205.

rs1490575820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:54441292 (GRCh38)
14:54908010 (GRCh37)
Canonical SPDI:: NC_000014.9:54441291:C:T
Gene:: CNIH1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.54441292C>T, NC_000014.8:g.54908010C>T, NM_005776.3:c.36G>A, NM_005776.2:c.36G>A, NM_001009551.1:c.36G>A

Select item 14905189676.

rs1490518967 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:54439564 (GRCh38)
14:54906282 (GRCh37)
Canonical SPDI:: NC_000014.9:54439563:T:C,NC_000014.9:54439563:T:G
Gene:: CNIH1 (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)
G=0.000119/2 (TOMMO)
HGVS:: NC_000014.9:g.54439564T>C, NC_000014.9:g.54439564T>G, NC_000014.8:g.54906282T>C, NC_000014.8:g.54906282T>G

Select item 14903258717.

rs1490325871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 14:54439005 (GRCh38)
14:54905723 (GRCh37)
Canonical SPDI:: NC_000014.9:54439004:G:C,NC_000014.9:54439004:G:T
Gene:: CNIH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.54439005G>C, NC_000014.9:g.54439005G>T, NC_000014.8:g.54905723G>C, NC_000014.8:g.54905723G>T

Select item 14902997228.

rs1490299722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:54438789 (GRCh38)
14:54905507 (GRCh37)
Canonical SPDI:: NC_000014.9:54438788:G:C
Gene:: CNIH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000014.9:g.54438789G>C, NC_000014.8:g.54905507G>C

Select item 14902219619.

rs1490221961 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAT>- [Show Flanks]
Chromosome:: 14:54429900 (GRCh38)
14:54896618 (GRCh37)
Canonical SPDI:: NC_000014.9:54429897:ATAAT:AT
Gene:: CNIH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.54429900_54429902del, NC_000014.8:g.54896618_54896620del

Select item 149009143010.

rs1490091430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:54440943 (GRCh38)
14:54907661 (GRCh37)
Canonical SPDI:: NC_000014.9:54440942:G:A,NC_000014.9:54440942:G:T
Gene:: CNIH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.54440943G>A, NC_000014.9:g.54440943G>T, NC_000014.8:g.54907661G>A, NC_000014.8:g.54907661G>T

Select item 149008883511.

rs1490088835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:54438110 (GRCh38)
14:54904828 (GRCh37)
Canonical SPDI:: NC_000014.9:54438109:G:A,NC_000014.9:54438109:G:T
Gene:: CNIH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000026/7 (TOPMED)
HGVS:: NC_000014.9:g.54438110G>A, NC_000014.9:g.54438110G>T, NC_000014.8:g.54904828G>A, NC_000014.8:g.54904828G>T

Select item 149003242612.

rs1490032426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:54439212 (GRCh38)
14:54905930 (GRCh37)
Canonical SPDI:: NC_000014.9:54439211:G:C
Gene:: CNIH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.54439212G>C, NC_000014.8:g.54905930G>C

Select item 148994511213.

rs1489945112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:54430550 (GRCh38)
14:54897268 (GRCh37)
Canonical SPDI:: NC_000014.9:54430549:T:C
Gene:: CNIH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.54430550T>C, NC_000014.8:g.54897268T>C

Select item 148966449714.

rs1489664497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:54429474 (GRCh38)
14:54896192 (GRCh37)
Canonical SPDI:: NC_000014.9:54429473:T:A
Gene:: CNIH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.54429474T>A, NC_000014.8:g.54896192T>A

Select item 148929130315.

rs1489291303 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:54438757 (GRCh38)
14:54905475 (GRCh37)
Canonical SPDI:: NC_000014.9:54438756:T:C
Gene:: CNIH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000014.9:g.54438757T>C, NC_000014.8:g.54905475T>C

Select item 148920507716.

rs1489205077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:54430540 (GRCh38)
14:54897258 (GRCh37)
Canonical SPDI:: NC_000014.9:54430539:G:A
Gene:: CNIH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.54430540G>A, NC_000014.8:g.54897258G>A

Select item 148917336817.

rs1489173368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:54429375 (GRCh38)
14:54896093 (GRCh37)
Canonical SPDI:: NC_000014.9:54429374:C:A
Gene:: CNIH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.54429375C>A, NC_000014.8:g.54896093C>A

Select item 148911128018.

rs1489111280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:54429904 (GRCh38)
14:54896622 (GRCh37)
Canonical SPDI:: NC_000014.9:54429903:T:A
Gene:: CNIH1 (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_000014.9:g.54429904T>A, NC_000014.8:g.54896622T>A

Select item 148894486219.

rs1488944862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:54439941 (GRCh38)
14:54906659 (GRCh37)
Canonical SPDI:: NC_000014.9:54439940:G:A
Gene:: CNIH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.54439941G>A, NC_000014.8:g.54906659G>A

Select item 148868202320.

rs1488682023 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:54428939 (GRCh38)
14:54895657 (GRCh37)
Canonical SPDI:: NC_000014.9:54428938:T:C
Gene:: CNIH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.002729/5 (Korea1K)
C=0.00308/9 (KOREAN)
C=0.003999/67 (TOMMO)
HGVS:: NC_000014.9:g.54428939T>C, NC_000014.8:g.54895657T>C

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