SNP Links for Gene (Select 219854) - SNP

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Select item 14915747381.

rs1491574738 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGG [Show Flanks]
Chromosome:: 11:125110851 (GRCh38)
11:124980748 (GRCh37)
Canonical SPDI:: NC_000011.10:125110851:GG:GGCGG
Gene:: TMEM218 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGCGG=0./0 (ALFA)
GGC=0./0 (GnomAD)
HGVS:: NC_000011.10:g.125110853_125110854insCGG, NC_000011.9:g.124980749_124980750insCGG

Select item 14911482622.

rs1491148262 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:125111872 (GRCh38)
11:124981769 (GRCh37)
Canonical SPDI:: NC_000011.10:125111872:G:GG
Gene:: TMEM218 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000011.10:g.125111873dup, NC_000011.9:g.124981769dup

Select item 14911214823.

rs1491121482 has merged into rs34421317 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG [Show Flanks]
Chromosome:: 11:125110860 (GRCh38)
11:124980756 (GRCh37)
Canonical SPDI:: NC_000011.10:125110850:GGGGGGGGGGGG:GGGGGGGGG,NC_000011.10:125110850:GGGGGGGGGGGG:GGGGGGGGGG,NC_000011.10:125110850:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000011.10:125110850:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000011.10:125110850:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000011.10:125110850:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000011.10:125110850:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000011.10:125110850:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000011.10:125110850:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG
Gene:: TMEM218 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000011.10:g.125110860_125110862del, NC_000011.10:g.125110861_125110862del, NC_000011.10:g.125110862del, NC_000011.10:g.125110862dup, NC_000011.10:g.125110861_125110862dup, NC_000011.10:g.125110860_125110862dup, NC_000011.10:g.125110859_125110862dup, NC_000011.10:g.125110858_125110862dup, NC_000011.10:g.125110857_125110862dup, NC_000011.9:g.124980756_124980758del, NC_000011.9:g.124980757_124980758del, NC_000011.9:g.124980758del, NC_000011.9:g.124980758dup, NC_000011.9:g.124980757_124980758dup, NC_000011.9:g.124980756_124980758dup, NC_000011.9:g.124980755_124980758dup, NC_000011.9:g.124980754_124980758dup, NC_000011.9:g.124980753_124980758dup

Select item 14908425014.

rs1490842501 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:125109151 (GRCh38)
11:124979047 (GRCh37)
Canonical SPDI:: NC_000011.10:125109150:A:G
Gene:: TMEM218 (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.125109151A>G, NC_000011.9:g.124979047A>G

Select item 14906752775.

rs1490675277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:125097791 (GRCh38)
11:124967687 (GRCh37)
Canonical SPDI:: NC_000011.10:125097790:C:G
Gene:: TMEM218 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.125097791C>G, NC_000011.9:g.124967687C>G

Select item 14904794746.

rs1490479474 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:125100424 (GRCh38)
11:124970320 (GRCh37)
Canonical SPDI:: NC_000011.10:125100423:T:C
Gene:: TMEM218 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.125100424T>C, NC_000011.9:g.124970320T>C

Select item 14903728897.

rs1490372889 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:125099354 (GRCh38)
11:124969250 (GRCh37)
Canonical SPDI:: NC_000011.10:125099353:T:G
Gene:: TMEM218 (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.125099354T>G, NC_000011.9:g.124969250T>G

Select item 14903146288.

rs1490314628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:125101054 (GRCh38)
11:124970950 (GRCh37)
Canonical SPDI:: NC_000011.10:125101053:C:T
Gene:: TMEM218 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.125101054C>T, NC_000011.9:g.124970950C>T

Select item 14900242889.

rs1490024288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:125109674 (GRCh38)
11:124979570 (GRCh37)
Canonical SPDI:: NC_000011.10:125109673:C:T
Gene:: TMEM218 (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.125109674C>T, NC_000011.9:g.124979570C>T

Select item 148994049910.

rs1489940499 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 11:125108988 (GRCh38)
11:124978884 (GRCh37)
Canonical SPDI:: NC_000011.10:125108983:TCTTCTT:TCTT
Gene:: TMEM218 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTT=0./0 (ALFA)
-=0.000034/9 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.125108985CTT[1], NC_000011.9:g.124978881CTT[1]

Select item 148920209111.

rs1489202091 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:125101682 (GRCh38)
11:124971578 (GRCh37)
Canonical SPDI:: NC_000011.10:125101681:G:A
Gene:: TMEM218 (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_000011.10:g.125101682G>A, NC_000011.9:g.124971578G>A

Select item 148898099512.

rs1488980995 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:125107519 (GRCh38)
11:124977416 (GRCh37)
Canonical SPDI:: NC_000011.10:125107519:AAAAAA:AAAAAAA
Gene:: TMEM218 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.125107525dup, NC_000011.9:g.124977421dup

Select item 148889115813.

rs1488891158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:125102660 (GRCh38)
11:124972556 (GRCh37)
Canonical SPDI:: NC_000011.10:125102659:G:C
Gene:: TMEM218 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,synonymous_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_000011.10:g.125102660G>C, NC_000011.9:g.124972556G>C, XM_006718780.4:c.6C>G, XM_006718780.3:c.6C>G, XM_006718780.2:c.6C>G, XM_006718780.1:c.6C>G, NM_001258243.3:c.-100C>G, NM_001258243.2:c.6C>G, NM_001258243.1:c.6C>G, NM_001080546.3:c.-134C>G, NM_001080546.2:c.-134C>G, NM_001258242.3:c.-100C>G, NM_001258242.2:c.6C>G, NM_001258242.1:c.6C>G, NM_001258246.3:c.-100C>G, NM_001258246.2:c.6C>G, NM_001258246.1:c.6C>G, NM_001258239.3:c.-100C>G, NM_001258239.2:c.6C>G, NM_001258239.1:c.6C>G, NR_047588.2:n.238C>G, NR_047588.1:n.320C>G, NM_001387241.1:c.-134C>G, NM_001387231.1:c.-100C>G, NM_001387244.1:c.-134C>G, XM_047426541.1:c.6C>G, NM_001387249.1:c.-134C>G, XM_047426540.1:c.6C>G, NM_001387256.1:c.6C>G, XM_047426542.1:c.6C>G, XM_047426543.1:c.6C>G, NM_001387236.1:c.-134C>G, NM_001387251.1:c.6C>G, NM_001387257.1:c.6C>G, NM_001387247.1:c.-100C>G, NM_001387259.1:c.6C>G, NR_170610.1:n.400C>G, NM_001387258.1:c.6C>G, NM_001387255.1:c.6C>G, NM_001387252.1:c.6C>G, NM_001387254.1:c.6C>G, NM_001387253.1:c.6C>G, NR_170613.1:n.238C>G, NM_001387250.1:c.6C>G, NR_170609.1:n.223C>G, NR_170604.1:n.192C>G

Select item 148859979914.

rs1488599799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:125103912 (GRCh38)
11:124973808 (GRCh37)
Canonical SPDI:: NC_000011.10:125103911:T:G
Gene:: TMEM218 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/2 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.125103912T>G, NC_000011.9:g.124973808T>G

Select item 148851599815.

rs1488515998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:125098228 (GRCh38)
11:124968124 (GRCh37)
Canonical SPDI:: NC_000011.10:125098227:G:A
Gene:: TMEM218 (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_000011.10:g.125098228G>A, NC_000011.9:g.124968124G>A

Select item 148841742516.

rs1488417425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:125094007 (GRCh38)
11:124963903 (GRCh37)
Canonical SPDI:: NC_000011.10:125094006:C:G,NC_000011.10:125094006:C:T
Gene:: TMEM218 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0./0 (GnomAD)
HGVS:: NC_000011.10:g.125094007C>G, NC_000011.10:g.125094007C>T, NC_000011.9:g.124963903C>G, NC_000011.9:g.124963903C>T

Select item 148838784417.

rs1488387844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:125112739 (GRCh38)
11:124982635 (GRCh37)
Canonical SPDI:: NC_000011.10:125112738:G:A
Gene:: TMEM218 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.125112739G>A, NC_000011.9:g.124982635G>A

Select item 148829632618.

rs1488296326 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:125110822 (GRCh38)
11:124980718 (GRCh37)
Canonical SPDI:: NC_000011.10:125110821:T:C,NC_000011.10:125110821:T:G
Gene:: TMEM218 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000008/1 (GnomAD)
C=0.000036/1 (TOMMO)
HGVS:: NC_000011.10:g.125110822T>C, NC_000011.10:g.125110822T>G, NC_000011.9:g.124980718T>C, NC_000011.9:g.124980718T>G

Select item 148805839819.

rs1488058398 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:125111830 (GRCh38)
11:124981726 (GRCh37)
Canonical SPDI:: NC_000011.10:125111829:T:C
Gene:: TMEM218 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.125111830T>C, NC_000011.9:g.124981726T>C

Select item 148804714020.

rs1488047140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:125097614 (GRCh38)
11:124967510 (GRCh37)
Canonical SPDI:: NC_000011.10:125097613:A:C
Gene:: TMEM218 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000034/9 (TOPMED)
HGVS:: NC_000011.10:g.125097614A>C, NC_000011.9:g.124967510A>C, XM_006718780.4:c.445T>G, XM_006718780.3:c.445T>G, XM_006718780.2:c.445T>G, XM_006718780.1:c.445T>G, NM_001258243.3:c.340T>G, NM_001258243.2:c.445T>G, NM_001258243.1:c.445T>G, NM_001080546.3:c.340T>G, NM_001080546.2:c.340T>G, NM_001258242.3:c.340T>G, NM_001258242.2:c.445T>G, NM_001258242.1:c.445T>G, NM_001258246.3:c.340T>G, NM_001258246.2:c.445T>G, NM_001258246.1:c.445T>G, NM_001258239.3:c.340T>G, NM_001258239.2:c.445T>G, NM_001258239.1:c.445T>G, NM_001258245.2:c.340T>G, NM_001258245.1:c.340T>G, NM_001258240.2:c.340T>G, NM_001258240.1:c.340T>G, NM_001258241.2:c.340T>G, NM_001258241.1:c.340T>G, NR_047588.2:n.630T>G, NR_047588.1:n.712T>G, NM_001258244.2:c.340T>G, NM_001258244.1:c.340T>G, NR_047590.2:n.567T>G, NR_047590.1:n.649T>G, NM_001258247.2:c.340T>G, NM_001258247.1:c.340T>G, NM_001258238.2:c.340T>G, NM_001258238.1:c.340T>G, NR_047592.2:n.533T>G, NR_047592.1:n.615T>G, NR_047586.2:n.487T>G, NR_047586.1:n.624T>G, NR_047591.2:n.453T>G, NR_047591.1:n.535T>G, NR_047589.2:n.394T>G, NR_047589.1:n.476T>G, NR_047587.2:n.270T>G, NR_047587.1:n.407T>G, NM_001387241.1:c.340T>G, NM_001387231.1:c.340T>G, NM_001387244.1:c.340T>G, XM_047426541.1:c.445T>G, NM_001387249.1:c.418T>G, XM_047426540.1:c.445T>G, NM_001387256.1:c.*155T>G, NM_001387233.1:c.340T>G, XM_047426542.1:c.445T>G, NM_001387248.1:c.340T>G, XM_047426543.1:c.445T>G, NM_001387242.1:c.340T>G, NM_001387236.1:c.340T>G, NM_001387251.1:c.259T>G, NM_001387257.1:c.*155T>G, NM_001387232.1:c.340T>G, NM_001387237.1:c.340T>G, NR_170611.1:n.636T>G, NM_001387247.1:c.340T>G, NM_001387259.1:c.*155T>G, NM_001387243.1:c.340T>G, NM_001387230.1:c.340T>G, NR_170610.1:n.606T>G, NM_001387238.1:c.340T>G, NM_001387239.1:c.340T>G, NM_001387246.1:c.340T>G, NM_001387258.1:c.*155T>G, NM_001387255.1:c.*155T>G, NM_001387235.1:c.340T>G, NM_001387245.1:c.340T>G, NM_001387234.1:c.340T>G, NM_001387252.1:c.259T>G, NM_001387240.1:c.340T>G, NM_001387254.1:c.259T>G, NR_170602.1:n.485T>G, NR_170600.1:n.449T>G, NM_001387253.1:c.259T>G, NR_170613.1:n.444T>G, NM_001387250.1:c.259T>G, NR_170609.1:n.429T>G, NR_170604.1:n.398T>G, NR_170601.1:n.348T>G, NR_170612.1:n.347T>G, NR_170605.1:n.318T>G, NR_170608.1:n.303T>G, NR_170603.1:n.301T>G, NR_170607.1:n.272T>G, NR_170606.1:n.223T>G, XP_006718843.1:p.Ser149Ala, NP_001245172.2:p.Ser114Ala, NP_001074015.1:p.Ser114Ala, NP_001245171.2:p.Ser114Ala, NP_001245175.2:p.Ser114Ala, NP_001245168.2:p.Ser114Ala, NP_001245174.1:p.Ser114Ala, NP_001245169.1:p.Ser114Ala, NP_001245170.1:p.Ser114Ala, NP_001245173.1:p.Ser114Ala, NP_001245176.1:p.Ser114Ala, NP_001245167.1:p.Ser114Ala, NP_001374170.1:p.Ser114Ala, NP_001374160.1:p.Ser114Ala, NP_001374173.1:p.Ser114Ala, XP_047282497.1:p.Ser149Ala, NP_001374178.1:p.Ser140Ala, XP_047282496.1:p.Ser149Ala, NP_001374162.1:p.Ser114Ala, XP_047282498.1:p.Ser149Ala, NP_001374177.1:p.Ser114Ala, XP_047282499.1:p.Ser149Ala, NP_001374171.1:p.Ser114Ala, NP_001374165.1:p.Ser114Ala, NP_001374180.1:p.Ser87Ala, NP_001374161.1:p.Ser114Ala, NP_001374166.1:p.Ser114Ala, NP_001374176.1:p.Ser114Ala, NP_001374159.1:p.Ser114Ala, NP_001374167.1:p.Ser114Ala, NP_001374168.1:p.Ser114Ala, NP_001374175.1:p.Ser114Ala, NP_001374164.1:p.Ser114Ala, NP_001374174.1:p.Ser114Ala, NP_001374163.1:p.Ser114Ala, NP_001374181.1:p.Ser87Ala, NP_001374169.1:p.Ser114Ala, NP_001374183.1:p.Ser87Ala, NP_001374182.1:p.Ser87Ala, NP_001374179.1:p.Ser87Ala

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