SNP Links for Gene (Select 56603) - SNP

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Select item 14914228061.

rs1491422806 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACAACACAACACACACACAACACACAC [Show Flanks]
Chromosome:: 2:72149253 (GRCh38)
2:72376383 (GRCh37)
Canonical SPDI:: NC_000002.12:72149253:ACACACACACAACACACAC:ACACACACACAACACACACACAACACAACACACACACAACACACAC
Gene:: CYP26B1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACAACACACACACAACACAACACACACACAACACACAC=0.000084/1 (ALFA)
ACACACACACAACACACACACAACACA=0.000857/120 (GnomAD)
HGVS:: NC_000002.12:g.72149254_72149272ACACACACACA[2]ACACAACACAC[2]AC[1], NC_000002.11:g.72376383_72376401ACACACACACA[2]ACACAACACAC[2]AC[1], NG_007957.1:g.3563_3581GTGTGTGTTGT[2]GTTGTGTGTGT[2]GT[1]

Select item 14911504822.

rs1491150482 has merged into rs1016270719 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA [Show Flanks]
Chromosome:: 2:72149261 (GRCh38)
2:72376390 (GRCh37)
Canonical SPDI:: NC_000002.12:72149252:CACACACACACA:CACACACA,NC_000002.12:72149252:CACACACACACA:CACACACACA,NC_000002.12:72149252:CACACACACACA:CACACACACACACA
Gene:: CYP26B1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACA=0./0 (ALFA)
-=0.000034/9 (TOPMED)
CA=0.000035/1 (TOMMO)
CA=0.004739/1 (Vietnamese)
HGVS:: NC_000002.12:g.72149253CA[4], NC_000002.12:g.72149253CA[5], NC_000002.12:g.72149253CA[7], NC_000002.11:g.72376382CA[4], NC_000002.11:g.72376382CA[5], NC_000002.11:g.72376382CA[7], NG_007957.1:g.3571TG[4], NG_007957.1:g.3571TG[5], NG_007957.1:g.3571TG[7]

Select item 14909060173.

rs1490906017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:72146749 (GRCh38)
2:72373878 (GRCh37)
Canonical SPDI:: NC_000002.12:72146748:C:G
Gene:: CYP26B1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000002.12:g.72146749C>G, NC_000002.11:g.72373878C>G, NG_007957.1:g.6086G>C

Select item 14908778544.

rs1490877854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:72133763 (GRCh38)
2:72360892 (GRCh37)
Canonical SPDI:: NC_000002.12:72133762:C:A
Gene:: CYP26B1 (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_000002.12:g.72133763C>A, NC_000002.11:g.72360892C>A, NG_007957.1:g.19072G>T

Select item 14906189695.

rs1490618969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:72140708 (GRCh38)
2:72367837 (GRCh37)
Canonical SPDI:: NC_000002.12:72140707:C:A,NC_000002.12:72140707:C:G
Gene:: CYP26B1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.72140708C>A, NC_000002.12:g.72140708C>G, NC_000002.11:g.72367837C>A, NC_000002.11:g.72367837C>G, NG_007957.1:g.12127G>T, NG_007957.1:g.12127G>C

Select item 14904137826.

rs1490413782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:72137250 (GRCh38)
2:72364379 (GRCh37)
Canonical SPDI:: NC_000002.12:72137249:G:A
Gene:: CYP26B1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.72137250G>A, NC_000002.11:g.72364379G>A, NG_007957.1:g.15585C>T

Select item 14904084307.

rs1490408430 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:72139097 (GRCh38)
2:72366226 (GRCh37)
Canonical SPDI:: NC_000002.12:72139096:T:C
Gene:: CYP26B1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.72139097T>C, NC_000002.11:g.72366226T>C, NG_007957.1:g.13738A>G

Select item 14903886778.

rs1490388677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:72134239 (GRCh38)
2:72361368 (GRCh37)
Canonical SPDI:: NC_000002.12:72134238:C:T
Gene:: CYP26B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.72134239C>T, NC_000002.11:g.72361368C>T, NG_007957.1:g.18596G>A

Select item 14903271589.

rs1490327158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:72139855 (GRCh38)
2:72366984 (GRCh37)
Canonical SPDI:: NC_000002.12:72139854:C:A,NC_000002.12:72139854:C:G
Gene:: CYP26B1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.72139855C>A, NC_000002.12:g.72139855C>G, NC_000002.11:g.72366984C>A, NC_000002.11:g.72366984C>G, NG_007957.1:g.12980G>T, NG_007957.1:g.12980G>C

Select item 149016453610.

rs1490164536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:72147598 (GRCh38)
2:72374727 (GRCh37)
Canonical SPDI:: NC_000002.12:72147597:C:G
Gene:: CYP26B1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000002.12:g.72147598C>G, NC_000002.11:g.72374727C>G, NG_007957.1:g.5237G>C

Select item 149010325811.

rs1490103258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:72135535 (GRCh38)
2:72362664 (GRCh37)
Canonical SPDI:: NC_000002.12:72135534:G:A
Gene:: CYP26B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.72135535G>A, NC_000002.11:g.72362664G>A, NG_007957.1:g.17300C>T

Select item 149008722612.

rs1490087226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:72146392 (GRCh38)
2:72373521 (GRCh37)
Canonical SPDI:: NC_000002.12:72146391:A:T
Gene:: CYP26B1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000002.12:g.72146392A>T, NC_000002.11:g.72373521A>T, NG_007957.1:g.6443T>A

Select item 149005999613.

rs1490059996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:72133341 (GRCh38)
2:72360470 (GRCh37)
Canonical SPDI:: NC_000002.12:72133340:T:C
Gene:: CYP26B1 (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_000002.12:g.72133341T>C, NC_000002.11:g.72360470T>C, NG_007957.1:g.19494A>G

Select item 148980149314.

rs1489801493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:72140225 (GRCh38)
2:72367354 (GRCh37)
Canonical SPDI:: NC_000002.12:72140224:G:A
Gene:: CYP26B1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.72140225G>A, NC_000002.11:g.72367354G>A, NG_007957.1:g.12610C>T

Select item 148978523815.

rs1489785238 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>T
Chromosome:: no mapping
Canonical SPDI:

Select item 148959544716.

rs1489595447 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:72135638 (GRCh38)
2:72362767 (GRCh37)
Canonical SPDI:: NC_000002.12:72135637:T:C
Gene:: CYP26B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.72135638T>C, NC_000002.11:g.72362767T>C, NG_007957.1:g.17197A>G

Select item 148914063617.

rs1489140636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:72132263 (GRCh38)
2:72359392 (GRCh37)
Canonical SPDI:: NC_000002.12:72132262:C:A,NC_000002.12:72132262:C:T
Gene:: CYP26B1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000002.12:g.72132263C>A, NC_000002.12:g.72132263C>T, NC_000002.11:g.72359392C>A, NC_000002.11:g.72359392C>T, NG_007957.1:g.20572G>T, NG_007957.1:g.20572G>A, NM_019885.4:c.1503G>T, NM_019885.4:c.1503G>A, NM_019885.3:c.1503G>T, NM_019885.3:c.1503G>A, NM_001277742.2:c.1278G>T, NM_001277742.2:c.1278G>A, NM_001277742.1:c.1278G>T, NM_001277742.1:c.1278G>A, XM_005264433.5:c.1329G>T, XM_005264433.5:c.1329G>A, XM_005264433.4:c.1329G>T, XM_005264433.4:c.1329G>A, XM_005264433.3:c.1329G>T, XM_005264433.3:c.1329G>A, XM_005264433.2:c.1329G>T, XM_005264433.2:c.1329G>A, XM_005264433.1:c.1329G>T, XM_005264433.1:c.1329G>A, XM_011532988.2:c.930G>T, XM_011532988.2:c.930G>A, XM_011532988.1:c.930G>T, XM_011532988.1:c.930G>A, XM_047445119.1:c.1185G>T, XM_047445119.1:c.1185G>A, XM_047445120.1:c.930G>T, XM_047445120.1:c.930G>A

Select item 148903801518.

rs1489038015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:72135927 (GRCh38)
2:72363056 (GRCh37)
Canonical SPDI:: NC_000002.12:72135926:G:T
Gene:: CYP26B1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.72135927G>T, NC_000002.11:g.72363056G>T, NG_007957.1:g.16908C>A, XM_011532988.2:c.-219C>A

Select item 148900666019.

rs1489006660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:72135011 (GRCh38)
2:72362140 (GRCh37)
Canonical SPDI:: NC_000002.12:72135010:G:A,NC_000002.12:72135010:G:C
Gene:: CYP26B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.72135011G>A, NC_000002.12:g.72135011G>C, NC_000002.11:g.72362140G>A, NC_000002.11:g.72362140G>C, NG_007957.1:g.17824C>T, NG_007957.1:g.17824C>G

Select item 148891860220.

rs1488918602 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTG>- [Show Flanks]
Chromosome:: 2:72133340 (GRCh38)
2:72360469 (GRCh37)
Canonical SPDI:: NC_000002.12:72133338:GGTG:G
Gene:: CYP26B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.72133340_72133342del, NC_000002.11:g.72360469_72360471del, NG_007957.1:g.19494_19496del

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