SNP Links for Gene (Select 162681) - SNP

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Select item 14912180161.

rs1491218016 has merged into rs869073829 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 18:54363818 (GRCh38)
18:51890188 (GRCh37)
Canonical SPDI:: NC_000018.10:54363816:TGT:T
Gene:: C18orf54 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
-=0.00123/78 (GnomAD)
-=0.01749/27 (Korea1K)
HGVS:: NC_000018.10:g.54363818_54363819del, NC_000018.9:g.51890188_51890189del

Select item 14912022772.

rs1491202277 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 18:54373310 (GRCh38)
18:51899680 (GRCh37)
Canonical SPDI:: NC_000018.10:54373309:AA:
Gene:: C18orf54 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.54373310_54373311del, NC_000018.9:g.51899680_51899681del

Select item 14910082733.

rs1491008273 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG,TTG [Show Flanks]
Chromosome:: 18:54369488 (GRCh38)
18:51895859 (GRCh37)
Canonical SPDI:: NC_000018.10:54369488::TG,NC_000018.10:54369488::TTG
Gene:: C18orf54 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
TTG=0.00002/1 (GnomAD)
HGVS:: NC_000018.10:g.54369488_54369489insTG, NC_000018.10:g.54369488_54369489insTTG, NC_000018.9:g.51895858_51895859insTG, NC_000018.9:g.51895858_51895859insTTG

Select item 14904903384.

rs1490490338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:54379456 (GRCh38)
18:51905826 (GRCh37)
Canonical SPDI:: NC_000018.10:54379455:T:G
Gene:: C18orf54 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.54379456T>G, NC_000018.9:g.51905826T>G, NM_173529.6:c.*1210T>G, NM_173529.5:c.*1210T>G, NM_173529.4:c.*1210T>G, XM_017025567.3:c.*1210T>G, XM_017025567.2:c.*1210T>G, XM_017025567.1:c.*1210T>G, XM_024451093.2:c.*1210T>G, XM_024451093.1:c.*1210T>G, NM_001288982.2:c.*1210T>G, NM_001288982.1:c.*1210T>G, NM_001288980.2:c.*1210T>G, NM_001288980.1:c.*1210T>G, NM_001288981.2:c.*1210T>G, NM_001288981.1:c.*1210T>G, NM_001370309.1:c.*1210T>G, NR_110234.1:n.1798T>G

Select item 14904226855.

rs1490422685 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:54382058 (GRCh38)
18:51908428 (GRCh37)
Canonical SPDI:: NC_000018.10:54382057:T:C
Gene:: C18orf54 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.54382058T>C, NC_000018.9:g.51908428T>C

Select item 14904185026.

rs1490418502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:54377071 (GRCh38)
18:51903441 (GRCh37)
Canonical SPDI:: NC_000018.10:54377070:C:T
Gene:: C18orf54 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.54377071C>T, NC_000018.9:g.51903441C>T

Select item 14902361427.

rs1490236142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:54372984 (GRCh38)
18:51899354 (GRCh37)
Canonical SPDI:: NC_000018.10:54372983:C:T
Gene:: C18orf54 (Varview)
Functional Consequence:: intron_variant,genic_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_000018.10:g.54372984C>T, NC_000018.9:g.51899354C>T

Select item 14902038978.

rs1490203897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:54358337 (GRCh38)
18:51884707 (GRCh37)
Canonical SPDI:: NC_000018.10:54358336:G:A
Gene:: STARD6 (Varview), C18orf54 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.54358337G>A, NC_000018.9:g.51884707G>A, NM_173529.6:c.-580G>A, NM_001288982.2:c.-580G>A, XR_001753148.2:n.432G>A, XR_001753148.1:n.424G>A, NM_001370309.1:c.-580G>A, XM_047437310.1:c.-580G>A

Select item 14901657189.

rs1490165718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 18:54366283 (GRCh38)
18:51892653 (GRCh37)
Canonical SPDI:: NC_000018.10:54366282:C:A,NC_000018.10:54366282:C:G
Gene:: C18orf54 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000018.10:g.54366283C>A, NC_000018.10:g.54366283C>G, NC_000018.9:g.51892653C>A, NC_000018.9:g.51892653C>G

Select item 149015202210.

rs1490152022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:54359169 (GRCh38)
18:51885539 (GRCh37)
Canonical SPDI:: NC_000018.10:54359168:A:G
Gene:: STARD6 (Varview), C18orf54 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000018.10:g.54359169A>G, NC_000018.9:g.51885539A>G, XM_017025567.3:c.-1119A>G, XM_017025567.2:c.-1119A>G, XM_024451093.2:c.-1119A>G, XM_024451093.1:c.-1119A>G

Select item 148992820811.

rs1489928208 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 18:54376172 (GRCh38)
18:51902542 (GRCh37)
Canonical SPDI:: NC_000018.10:54376171:G:
Gene:: C18orf54 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000142/2 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000018.10:g.54376172del, NC_000018.9:g.51902542del

Select item 148945271312.

rs1489452713 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:54365687 (GRCh38)
18:51892057 (GRCh37)
Canonical SPDI:: NC_000018.10:54365686:T:C
Gene:: C18orf54 (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_000018.10:g.54365687T>C, NC_000018.9:g.51892057T>C

Select item 148900942013.

rs1489009420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:54370294 (GRCh38)
18:51896664 (GRCh37)
Canonical SPDI:: NC_000018.10:54370293:G:T
Gene:: C18orf54 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000018.10:g.54370294G>T, NC_000018.9:g.51896664G>T

Select item 148900631114.

rs1489006311 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:54358212 (GRCh38)
18:51884582 (GRCh37)
Canonical SPDI:: NC_000018.10:54358211:A:G
Gene:: STARD6 (Varview), C18orf54 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.54358212A>G, NC_000018.9:g.51884582A>G, NM_173529.6:c.-705A>G, NM_001288982.2:c.-705A>G, XR_001753148.2:n.307A>G, XR_001753148.1:n.299A>G, NM_001370309.1:c.-705A>G, XM_047437310.1:c.-705A>G

Select item 148899691715.

rs1488996917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:54381947 (GRCh38)
18:51908317 (GRCh37)
Canonical SPDI:: NC_000018.10:54381946:G:C
Gene:: C18orf54 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.54381947G>C, NC_000018.9:g.51908317G>C, NM_173529.6:c.*3701G>C, NM_173529.5:c.*3701G>C, NM_173529.4:c.*3701G>C, XM_017025567.3:c.*3701G>C, XM_017025567.2:c.*3701G>C, XM_017025567.1:c.*3701G>C, XM_024451093.2:c.*3701G>C, XM_024451093.1:c.*3701G>C, NM_001288982.2:c.*3701G>C, NM_001288982.1:c.*3701G>C, NM_001288980.2:c.*3701G>C, NM_001288980.1:c.*3701G>C, NM_001288981.2:c.*3701G>C, NM_001288981.1:c.*3701G>C, XR_001753148.2:n.2965G>C, XR_001753148.1:n.2957G>C, NM_001370309.1:c.*3701G>C, NR_110234.1:n.4289G>C

Select item 148895461216.

rs1488954612 [Homo sapiens]

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

Select item 148855474917.

rs1488554749 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTACA>- [Show Flanks]
Chromosome:: 18:54372154 (GRCh38)
18:51898524 (GRCh37)
Canonical SPDI:: NC_000018.10:54372151:CATTTACA:CA
Gene:: C18orf54 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0.000071/1 (ALFA)
-=0.000285/40 (GnomAD)
-=0.000434/115 (TOPMED)
HGVS:: NC_000018.10:g.54372154_54372159del, NC_000018.9:g.51898524_51898529del

Select item 148846412018.

rs1488464120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:54366256 (GRCh38)
18:51892626 (GRCh37)
Canonical SPDI:: NC_000018.10:54366255:C:G
Gene:: C18orf54 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_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_000018.10:g.54366256C>G, NC_000018.9:g.51892626C>G

Select item 148837431819.

rs1488374318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 18:54360343 (GRCh38)
18:51886713 (GRCh37)
Canonical SPDI:: NC_000018.10:54360342:C:A,NC_000018.10:54360342:C:G
Gene:: C18orf54 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.54360343C>A, NC_000018.10:g.54360343C>G, NC_000018.9:g.51886713C>A, NC_000018.9:g.51886713C>G

Select item 148835690520.

rs1488356905 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCT>- [Show Flanks]
Chromosome:: 18:54366527 (GRCh38)
18:51892897 (GRCh37)
Canonical SPDI:: NC_000018.10:54366523:TCTATCT:TCT
Gene:: C18orf54 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000018.10:g.54366527_54366530del, NC_000018.9:g.51892897_51892900del