SNP Links for Gene (Select 1262) - SNP

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Select item 14908184091.

rs1490818409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6241082 (GRCh38)
11:6262312 (GRCh37)
Canonical SPDI:: NC_000011.10:6241081:C:T
Gene:: CNGA4 (Varview)
Functional Consequence:: intron_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_000011.10:g.6241082C>T, NC_000011.9:g.6262312C>T

Select item 14907947612.

rs1490794761 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:6238751 (GRCh38)
11:6259981 (GRCh37)
Canonical SPDI:: NC_000011.10:6238750:T:A
Gene:: CNGA4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.6238751T>A, NC_000011.9:g.6259981T>A, NG_052832.1:g.961A>T

Select item 14903020113.

rs1490302011 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 11:6237492 (GRCh38)
11:6258722 (GRCh37)
Canonical SPDI:: NC_000011.10:6237491:C:
Gene:: CNGA4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.6237492del, NC_000011.9:g.6258722del, NG_052832.1:g.2220del

Select item 14901904004.

rs1490190400 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:6239920 (GRCh38)
11:6261150 (GRCh37)
Canonical SPDI:: NC_000011.10:6239919:A:G
Gene:: CNGA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.6239920A>G, NC_000011.9:g.6261150A>G

Select item 14899687015.

rs1489968701 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:6238298 (GRCh38)
11:6259528 (GRCh37)
Canonical SPDI:: NC_000011.10:6238297:A:C,NC_000011.10:6238297:A:G
Gene:: CNGA4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.6238298A>C, NC_000011.10:g.6238298A>G, NC_000011.9:g.6259528A>C, NC_000011.9:g.6259528A>G, NG_052832.1:g.1414T>G, NG_052832.1:g.1414T>C

Select item 14899447956.

rs1489944795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:6239566 (GRCh38)
11:6260796 (GRCh37)
Canonical SPDI:: NC_000011.10:6239565:T:G
Gene:: CNGA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.6239566T>G, NC_000011.9:g.6260796T>G, NG_052832.1:g.146A>C

Select item 14896778627.

rs1489677862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:6234720 (GRCh38)
11:6255950 (GRCh37)
Canonical SPDI:: NC_000011.10:6234719:G:C,NC_000011.10:6234719:G:T
Gene:: CNGA4 (Varview), FHIP1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.6234720G>C, NC_000011.10:g.6234720G>T, NC_000011.9:g.6255950G>C, NC_000011.9:g.6255950G>T, NG_052832.1:g.4992C>G, NG_052832.1:g.4992C>A

Select item 14895900868.

rs1489590086 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6244491 (GRCh38)
11:6265721 (GRCh37)
Canonical SPDI:: NC_000011.10:6244490:T:C
Gene:: CNGA4 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.6244491T>C, NC_000011.9:g.6265721T>C, XM_017017218.3:c.*82T>C, XM_017017218.2:c.*82T>C, XM_017017218.1:c.*82T>C, XM_017017217.2:c.*82T>C, XM_017017217.1:c.*82T>C, XM_017017219.2:c.*82T>C, XM_017017219.1:c.*82T>C

Select item 14886410489.

rs1488641048 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:6243851 (GRCh38)
11:6265081 (GRCh37)
Canonical SPDI:: NC_000011.10:6243850:A:G
Gene:: CNGA4 (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_000011.10:g.6243851A>G, NC_000011.9:g.6265081A>G

Select item 148860048810.

rs1488600488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:6238184 (GRCh38)
11:6259414 (GRCh37)
Canonical SPDI:: NC_000011.10:6238183:G:A,NC_000011.10:6238183:G:T
Gene:: CNGA4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.00006/1 (TOMMO)
HGVS:: NC_000011.10:g.6238184G>A, NC_000011.10:g.6238184G>T, NC_000011.9:g.6259414G>A, NC_000011.9:g.6259414G>T, NG_052832.1:g.1528C>T, NG_052832.1:g.1528C>A

Select item 148833846211.

rs1488338462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:6234928 (GRCh38)
11:6256158 (GRCh37)
Canonical SPDI:: NC_000011.10:6234927:G:A,NC_000011.10:6234927:G:T
Gene:: CNGA4 (Varview), FHIP1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.6234928G>A, NC_000011.10:g.6234928G>T, NC_000011.9:g.6256158G>A, NC_000011.9:g.6256158G>T, NG_052832.1:g.4784C>T, NG_052832.1:g.4784C>A, XM_017017219.2:c.-90G>A, XM_017017219.2:c.-90G>T, XM_017017219.1:c.-90G>A, XM_017017219.1:c.-90G>T, XM_024448353.2:c.-90G>A, XM_024448353.2:c.-90G>T, XM_024448353.1:c.-90G>A, XM_024448353.1:c.-90G>T

Select item 148826474512.

rs1488264745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6244926 (GRCh38)
11:6266156 (GRCh37)
Canonical SPDI:: NC_000011.10:6244925:C:T
Gene:: CNGA4 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.6244926C>T, NC_000011.9:g.6266156C>T, XM_017017218.3:c.*517C>T, XM_017017218.2:c.*517C>T, XM_017017218.1:c.*517C>T, XM_017017217.2:c.*517C>T, XM_017017217.1:c.*517C>T, XM_017017219.2:c.*517C>T, XM_017017219.1:c.*517C>T

Select item 148796450413.

rs1487964504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6233136 (GRCh38)
11:6254366 (GRCh37)
Canonical SPDI:: NC_000011.10:6233135:G:A
Gene:: CNGA4 (Varview), FHIP1B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.6233136G>A, NC_000011.9:g.6254366G>A, NG_052832.1:g.6576C>T, XM_011520397.3:c.-3230C>T, XM_047427686.1:c.-3230C>T, XM_047427685.1:c.-3183C>T, XM_047427688.1:c.-3183C>T

Select item 148702377214.

rs1487023772 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:6246195 (GRCh38)
11:6267425 (GRCh37)
Canonical SPDI:: NC_000011.10:6246192:ATAT:AT
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.6246193AT[1], NC_000011.9:g.6267423AT[1]

Select item 148689606715.

rs1486896067 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6233506 (GRCh38)
11:6254736 (GRCh37)
Canonical SPDI:: NC_000011.10:6233505:T:C
Gene:: CNGA4 (Varview), FHIP1B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.6233506T>C, NC_000011.9:g.6254736T>C, NG_052832.1:g.6206A>G, XM_011520397.3:c.-3600A>G, XM_047427686.1:c.-3600A>G, XM_047427685.1:c.-3553A>G, XM_047427688.1:c.-3553A>G

Select item 148684001716.

rs1486840017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:6235908 (GRCh38)
11:6257138 (GRCh37)
Canonical SPDI:: NC_000011.10:6235907:C:G
Gene:: CNGA4 (Varview), FHIP1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.6235908C>G, NC_000011.9:g.6257138C>G, NG_052832.1:g.3804G>C

Select item 148642745417.

rs1486427454 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6240337 (GRCh38)
11:6261567 (GRCh37)
Canonical SPDI:: NC_000011.10:6240336:T:C
Gene:: CNGA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.6240337T>C, NC_000011.9:g.6261567T>C, NM_001037329.4:c.543T>C, NM_001037329.3:c.543T>C, XM_017017218.3:c.423T>C, XM_017017218.2:c.423T>C, XM_017017218.1:c.423T>C, XM_017017217.2:c.543T>C, XM_017017217.1:c.543T>C, XM_017017219.2:c.423T>C, XM_017017219.1:c.423T>C, XM_024448353.2:c.423T>C, XM_024448353.1:c.423T>C

Select item 148622477218.

rs1486224772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:6240192 (GRCh38)
11:6261422 (GRCh37)
Canonical SPDI:: NC_000011.10:6240191:G:T
Gene:: CNGA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6240192G>T, NC_000011.9:g.6261422G>T, NM_001037329.4:c.398G>T, NM_001037329.3:c.398G>T, XM_017017218.3:c.278G>T, XM_017017218.2:c.278G>T, XM_017017218.1:c.278G>T, XM_017017217.2:c.398G>T, XM_017017217.1:c.398G>T, XM_017017219.2:c.278G>T, XM_017017219.1:c.278G>T, XM_024448353.2:c.278G>T, XM_024448353.1:c.278G>T, NP_001032406.1:p.Gly133Val, XP_016872707.1:p.Gly93Val, XP_016872706.1:p.Gly133Val, XP_016872708.1:p.Gly93Val, XP_024304121.1:p.Gly93Val

Select item 148556763219.

rs1485567632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6242639 (GRCh38)
11:6263869 (GRCh37)
Canonical SPDI:: NC_000011.10:6242638:C:T
Gene:: CNGA4 (Varview)
Functional Consequence:: intron_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_000011.10:g.6242639C>T, NC_000011.9:g.6263869C>T

Select item 148531801220.

rs1485318012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6234670 (GRCh38)
11:6255900 (GRCh37)
Canonical SPDI:: NC_000011.10:6234669:C:T
Gene:: CNGA4 (Varview), FHIP1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.6234670C>T, NC_000011.9:g.6255900C>T, NG_052832.1:g.5042G>A, NM_032127.3:c.-318G>A, NM_001098794.1:c.-318G>A

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