SNP Links for Gene (Select 29097) - SNP

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Select item 14912596361.

rs1491259636 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:224378080 (GRCh38)
1:224565782 (GRCh37)
Canonical SPDI:: NC_000001.11:224378077:AGAG:AG
Gene:: CNIH4 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000038/10 (TOPMED)
-=0.363636/4 (1000Genomes)
HGVS:: NC_000001.11:g.224378078AG[1], NC_000001.10:g.224565780AG[1], NM_014184.4:c.*2256AG[1], NM_001277199.2:c.*2256AG[1], NR_102347.2:n.2703AG[1], NM_001277198.2:c.*2284AG[1], NM_001277197.2:c.*2256AG[1], XM_047418620.1:c.*2256AG[1], XM_047418623.1:c.*2256AG[1]

Select item 14910647292.

rs1491064729 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTCTCTTT [Show Flanks]
Chromosome:: 1:224362393 (GRCh38)
1:224550096 (GRCh37)
Canonical SPDI:: NC_000001.11:224362393:TCTCTCTTTCTCTCTTT:TCTCTCTTTCTCTCTTTCTCTCTTT
Gene:: CNIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTTTCTCTCTTTCTCTCTTT=0./0 (ALFA)
TCTCTCTT=0.000007/1 (GnomAD)
TCTCTCTT=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.224362395CTCTCTTT[3], NC_000001.10:g.224550097CTCTCTTT[3]

Select item 14910256443.

rs1491025644 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:224362380 (GRCh38)
1:224550083 (GRCh37)
Canonical SPDI:: NC_000001.11:224362380::C
Gene:: CNIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.00003/1 (GnomAD)
HGVS:: NC_000001.11:g.224362380_224362381insC, NC_000001.10:g.224550082_224550083insC

Select item 14910124394.

rs1491012439 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 1:224362401 (GRCh38)
1:224550103 (GRCh37)
Canonical SPDI:: NC_000001.11:224362399:TTT:T,NC_000001.11:224362399:TTT:TTTTT
Gene:: CNIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000016/2 (GnomAD)
HGVS:: NC_000001.11:g.224362401_224362402del, NC_000001.11:g.224362401_224362402dup, NC_000001.10:g.224550103_224550104del, NC_000001.10:g.224550103_224550104dup

Select item 14909998275.

rs1490999827 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCAA>- [Show Flanks]
Chromosome:: 1:224379538 (GRCh38)
1:224567240 (GRCh37)
Canonical SPDI:: NC_000001.11:224379535:AATCAA:AA
Gene:: CNIH4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.224379538_224379541del, NC_000001.10:g.224567240_224567243del

Select item 14907886946.

rs1490788694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:224363564 (GRCh38)
1:224551266 (GRCh37)
Canonical SPDI:: NC_000001.11:224363563:A:G
Gene:: CNIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000425/7 (TOMMO)
HGVS:: NC_000001.11:g.224363564A>G, NC_000001.10:g.224551266A>G

Select item 14907501277.

rs1490750127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:224364709 (GRCh38)
1:224552411 (GRCh37)
Canonical SPDI:: NC_000001.11:224364708:T:G
Gene:: CNIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.224364709T>G, NC_000001.10:g.224552411T>G

Select item 14906590478.

rs1490659047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:224358227 (GRCh38)
1:224545929 (GRCh37)
Canonical SPDI:: NC_000001.11:224358226:T:C
Gene:: CNIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.224358227T>C, NC_000001.10:g.224545929T>C

Select item 14906389829.

rs1490638982 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:224356726 (GRCh38)
1:224544428 (GRCh37)
Canonical SPDI:: NC_000001.11:224356724:TGT:T
Gene:: CNIH4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.224356726_224356727del, NC_000001.10:g.224544428_224544429del

Select item 148984356710.

rs1489843567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:224357396 (GRCh38)
1:224545098 (GRCh37)
Canonical SPDI:: NC_000001.11:224357395:C:G
Gene:: CNIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.224357396C>G, NC_000001.10:g.224545098C>G

Select item 148982798911.

rs1489827989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:224354860 (GRCh38)
1:224542562 (GRCh37)
Canonical SPDI:: NC_000001.11:224354859:G:A
Gene:: CNIH4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.224354860G>A, NC_000001.10:g.224542562G>A

Select item 148972786212.

rs1489727862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:224366931 (GRCh38)
1:224554633 (GRCh37)
Canonical SPDI:: NC_000001.11:224366930:C:T
Gene:: CNIH4 (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.224366931C>T, NC_000001.10:g.224554633C>T

Select item 148952722013.

rs1489527220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:224371173 (GRCh38)
1:224558875 (GRCh37)
Canonical SPDI:: NC_000001.11:224371172:G:A
Gene:: CNIH4 (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.224371173G>A, NC_000001.10:g.224558875G>A

Select item 148948140014.

rs1489481400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:224356253 (GRCh38)
1:224543955 (GRCh37)
Canonical SPDI:: NC_000001.11:224356252:C:G,NC_000001.11:224356252:C:T
Gene:: CNIH4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000177/3 (TOMMO)
HGVS:: NC_000001.11:g.224356253C>G, NC_000001.11:g.224356253C>T, NC_000001.10:g.224543955C>G, NC_000001.10:g.224543955C>T

Select item 148932150215.

rs1489321502 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:224367223 (GRCh38)
1:224554925 (GRCh37)
Canonical SPDI:: NC_000001.11:224367222:A:G
Gene:: CNIH4 (Varview)
Functional Consequence:: intron_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.224367223A>G, NC_000001.10:g.224554925A>G

Select item 148927867316.

rs1489278673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:224363556 (GRCh38)
1:224551258 (GRCh37)
Canonical SPDI:: NC_000001.11:224363555:C:T
Gene:: CNIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.224363556C>T, NC_000001.10:g.224551258C>T

Select item 148914392317.

rs1489143923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:224366135 (GRCh38)
1:224553837 (GRCh37)
Canonical SPDI:: NC_000001.11:224366134:C:G
Gene:: CNIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.224366135C>G, NC_000001.10:g.224553837C>G

Select item 148909272818.

rs1489092728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:224375319 (GRCh38)
1:224563021 (GRCh37)
Canonical SPDI:: NC_000001.11:224375318:G:C
Gene:: CNIH4 (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.224375319G>C, NC_000001.10:g.224563021G>C

Select item 148853453119.

rs1488534531 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:224374329 (GRCh38)
1:224562031 (GRCh37)
Canonical SPDI:: NC_000001.11:224374327:TAT:T
Gene:: CNIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.224374329_224374330del, NC_000001.10:g.224562031_224562032del

Select item 148840431920.

rs1488404319 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:224363227 (GRCh38)
1:224550929 (GRCh37)
Canonical SPDI:: NC_000001.11:224363226:A:G
Gene:: CNIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.224363227A>G, NC_000001.10:g.224550929A>G

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