SNP Links for Gene (Select 100190949) - SNP

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Items: 1 to 20 of 2605

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Select item 14914661751.

rs1491466175 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:157677654 (GRCh38)
5:157104662 (GRCh37)
Canonical SPDI:: NC_000005.10:157677653:CA:
Gene:: C5orf52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.157677654_157677655del, NC_000005.9:g.157104662_157104663del

Select item 14912152002.

rs1491215200 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:157677670 (GRCh38)
5:157104678 (GRCh37)
Canonical SPDI:: NC_000005.10:157677668:AGA:A
Gene:: C5orf52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.164981/1957 (ALFA)
-=0.160304/2681 (TOMMO)
-=0.162793/20074 (GnomAD)
HGVS:: NC_000005.10:g.157677670_157677671del, NC_000005.9:g.157104678_157104679del

Select item 14911356763.

rs1491135676 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:157677654 (GRCh38)
5:157104663 (GRCh37)
Canonical SPDI:: NC_000005.10:157677654::G
Gene:: C5orf52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.157677654_157677655insG, NC_000005.9:g.157104662_157104663insG

Select item 14908126544.

rs1490812654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:157679941 (GRCh38)
5:157106949 (GRCh37)
Canonical SPDI:: NC_000005.10:157679940:G:A
Gene:: C5orf52 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.157679941G>A, NC_000005.9:g.157106949G>A, XM_011534416.3:c.422G>A, XM_011534416.2:c.422G>A, XM_011534416.1:c.422G>A, NM_001145132.2:c.422G>A, NM_001145132.1:c.422G>A, XP_011532718.1:p.Arg141Lys, NP_001138604.1:p.Arg141Lys

Select item 14907410615.

rs1490741061 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:157679040 (GRCh38)
5:157106048 (GRCh37)
Canonical SPDI:: NC_000005.10:157679039:A:G
Gene:: C5orf52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.157679040A>G, NC_000005.9:g.157106048A>G

Select item 14906499056.

rs1490649905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:157680475 (GRCh38)
5:157107483 (GRCh37)
Canonical SPDI:: NC_000005.10:157680474:C:A,NC_000005.10:157680474:C:T
Gene:: C5orf52 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_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_000005.10:g.157680475C>A, NC_000005.10:g.157680475C>T, NC_000005.9:g.157107483C>A, NC_000005.9:g.157107483C>T

Select item 14903218447.

rs1490321844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:157679405 (GRCh38)
5:157106413 (GRCh37)
Canonical SPDI:: NC_000005.10:157679404:C:T
Gene:: C5orf52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.157679405C>T, NC_000005.9:g.157106413C>T

Select item 14896337218.

rs1489633721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:157670986 (GRCh38)
5:157097994 (GRCh37)
Canonical SPDI:: NC_000005.10:157670985:C:T
Gene:: SOX30 (Varview), C5orf52 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.157670986C>T, NC_000005.9:g.157097994C>T, XM_011534416.3:c.-339C>T, XM_011534416.2:c.-339C>T

Select item 14892593689.

rs1489259368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:157670369 (GRCh38)
5:157097377 (GRCh37)
Canonical SPDI:: NC_000005.10:157670368:G:A
Gene:: SOX30 (Varview), C5orf52 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.157670369G>A, NC_000005.9:g.157097377G>A

Select item 148920277110.

rs1489202771 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:157677163 (GRCh38)
5:157104171 (GRCh37)
Canonical SPDI:: NC_000005.10:157677162:C:G
Gene:: C5orf52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.157677163C>G, NC_000005.9:g.157104171C>G

Select item 148892589911.

rs1488925899 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGC [Show Flanks]
Chromosome:: 5:157671017 (GRCh38)
5:157098026 (GRCh37)
Canonical SPDI:: NC_000005.10:157671017:GCCTGC:GCCTGCCTGC
Gene:: SOX30 (Varview), C5orf52 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCTGCCTGC=0./0 (ALFA)
GCCT=0.000004/1 (TOPMED)
GCCT=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.157671020_157671023dup, NC_000005.9:g.157098028_157098031dup, XM_011534416.3:c.-305_-302dup, XM_011534416.2:c.-305_-302dup

Select item 148866829712.

rs1488668297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:157672174 (GRCh38)
5:157099182 (GRCh37)
Canonical SPDI:: NC_000005.10:157672173:A:C
Gene:: SOX30 (Varview), C5orf52 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.157672174A>C, NC_000005.9:g.157099182A>C

Select item 148838782313.

rs1488387823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:157677249 (GRCh38)
5:157104257 (GRCh37)
Canonical SPDI:: NC_000005.10:157677248:C:A
Gene:: C5orf52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.157677249C>A, NC_000005.9:g.157104257C>A

Select item 148827600814.

rs1488276008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:157669831 (GRCh38)
5:157096839 (GRCh37)
Canonical SPDI:: NC_000005.10:157669830:T:C
Gene:: SOX30 (Varview), C5orf52 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_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_000005.10:g.157669831T>C, NC_000005.9:g.157096839T>C

Select item 148790563515.

rs1487905635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:157679003 (GRCh38)
5:157106011 (GRCh37)
Canonical SPDI:: NC_000005.10:157679002:G:A
Gene:: C5orf52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000043/6 (GnomAD)
A=0.000068/18 (TOPMED)
HGVS:: NC_000005.10:g.157679003G>A, NC_000005.9:g.157106011G>A

Select item 148787387816.

rs1487873878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:157672904 (GRCh38)
5:157099912 (GRCh37)
Canonical SPDI:: NC_000005.10:157672903:C:A
Gene:: SOX30 (Varview), C5orf52 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.157672904C>A, NC_000005.9:g.157099912C>A

Select item 148785418217.

rs1487854182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:157676887 (GRCh38)
5:157103895 (GRCh37)
Canonical SPDI:: NC_000005.10:157676886:G:T
Gene:: C5orf52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.01357/227 (TOMMO)
T=0.0138/25 (Korea1K)
T=0.10734/313 (KOREAN)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000005.10:g.157676887G>T, NC_000005.9:g.157103895G>T

Select item 148754976518.

rs1487549765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:157670908 (GRCh38)
5:157097916 (GRCh37)
Canonical SPDI:: NC_000005.10:157670907:T:C
Gene:: SOX30 (Varview), C5orf52 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.157670908T>C, NC_000005.9:g.157097916T>C

Select item 148740407819.

rs1487404078 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 5:157676872 (GRCh38)
5:157103881 (GRCh37)
Canonical SPDI:: NC_000005.10:157676872:TT:TTCTT
Gene:: C5orf52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
TTC=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.157676874_157676875insCTT, NC_000005.9:g.157103882_157103883insCTT

Select item 148698479320.

rs1486984793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:157671738 (GRCh38)
5:157098746 (GRCh37)
Canonical SPDI:: NC_000005.10:157671737:C:T
Gene:: SOX30 (Varview), C5orf52 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000033/5 (GnomAD_exomes)
HGVS:: NC_000005.10:g.157671738C>T, NC_000005.9:g.157098746C>T, XM_011534416.3:c.124C>T, XM_011534416.2:c.124C>T, XM_011534416.1:c.124C>T, NM_001145132.2:c.124C>T, NM_001145132.1:c.124C>T, XP_011532718.1:p.Leu42Phe, NP_001138604.1:p.Leu42Phe

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