SNP Links for Gene (Select 84247) - SNP

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Items: 1 to 20 of 2093

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Select item 14906460691.

rs1490646069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:44494660 (GRCh38)
22:44890540 (GRCh37)
Canonical SPDI:: NC_000022.11:44494659:G:C
Gene:: RTL6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.44494660G>C, NC_000022.10:g.44890540G>C, NM_032287.3:c.*2177C>G, NM_032287.2:c.*2177C>G

Select item 14902004922.

rs1490200492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:44494091 (GRCh38)
22:44889971 (GRCh37)
Canonical SPDI:: NC_000022.11:44494090:G:C
Gene:: RTL6 (Varview)
Functional Consequence:: 3_prime_UTR_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_000022.11:g.44494091G>C, NC_000022.10:g.44889971G>C, NM_032287.3:c.*2746C>G, NM_032287.2:c.*2746C>G

Select item 14893485663.

rs1489348566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:44492360 (GRCh38)
22:44888240 (GRCh37)
Canonical SPDI:: NC_000022.11:44492359:C:G,NC_000022.11:44492359:C:T
Gene:: RTL6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000042/11 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000022.11:g.44492360C>G, NC_000022.11:g.44492360C>T, NC_000022.10:g.44888240C>G, NC_000022.10:g.44888240C>T

Select item 14891690454.

rs1489169045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:44497871 (GRCh38)
22:44893751 (GRCh37)
Canonical SPDI:: NC_000022.11:44497870:G:C
Gene:: RTL6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.44497871G>C, NC_000022.10:g.44893751G>C

Select item 14890048245.

rs1489004824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:44498066 (GRCh38)
22:44893946 (GRCh37)
Canonical SPDI:: NC_000022.11:44498065:C:A,NC_000022.11:44498065:C:T
Gene:: RTL6 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.44498066C>A, NC_000022.11:g.44498066C>T, NC_000022.10:g.44893946C>A, NC_000022.10:g.44893946C>T, NM_032287.3:c.-278G>T, NM_032287.3:c.-278G>A, NM_032287.2:c.-278G>T, NM_032287.2:c.-278G>A

Select item 14883666766.

rs1488366676 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:44497556 (GRCh38)
22:44893436 (GRCh37)
Canonical SPDI:: NC_000022.11:44497555:T:C
Gene:: RTL6 (Varview)
Functional Consequence:: missense_variant,initiator_codon_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.44497556T>C, NC_000022.10:g.44893436T>C, NM_032287.3:c.1A>G, NM_032287.2:c.1A>G, NP_115663.2:p.Met1Val

Select item 14882818137.

rs1488281813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:44492204 (GRCh38)
22:44888084 (GRCh37)
Canonical SPDI:: NC_000022.11:44492203:A:G
Gene:: RTL6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.44492204A>G, NC_000022.10:g.44888084A>G

Select item 14877747668.

rs1487774766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:44497161 (GRCh38)
22:44893041 (GRCh37)
Canonical SPDI:: NC_000022.11:44497160:A:G
Gene:: RTL6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.44497161A>G, NC_000022.10:g.44893041A>G, NM_032287.3:c.396T>C, NM_032287.2:c.396T>C

Select item 14874196979.

rs1487419697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:44492282 (GRCh38)
22:44888162 (GRCh37)
Canonical SPDI:: NC_000022.11:44492281:A:G
Gene:: RTL6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000022.11:g.44492282A>G, NC_000022.10:g.44888162A>G

Select item 148738900710.

rs1487389007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:44495787 (GRCh38)
22:44891667 (GRCh37)
Canonical SPDI:: NC_000022.11:44495786:C:T
Gene:: RTL6 (Varview)
Functional Consequence:: 3_prime_UTR_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_000022.11:g.44495787C>T, NC_000022.10:g.44891667C>T, NM_032287.3:c.*1050G>A, NM_032287.2:c.*1050G>A

Select item 148732969911.

rs1487329699 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 22:44492780 (GRCh38)
22:44888660 (GRCh37)
Canonical SPDI:: NC_000022.11:44492779:AAA:AA
Gene:: RTL6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000142/2 (ALFA)
-=0.00006/16 (TOPMED)
-=0.000064/9 (GnomAD)
HGVS:: NC_000022.11:g.44492782del, NC_000022.10:g.44888662del, NM_032287.3:c.*4057del, NM_032287.2:c.*4057del

Select item 148714558612.

rs1487145586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:44498667 (GRCh38)
22:44894547 (GRCh37)
Canonical SPDI:: NC_000022.11:44498666:C:T
Gene:: RTL6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.44498667C>T, NC_000022.10:g.44894547C>T

Select item 148694074513.

rs1486940745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:44493123 (GRCh38)
22:44889003 (GRCh37)
Canonical SPDI:: NC_000022.11:44493122:T:C
Gene:: RTL6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.00003/8 (TOPMED)
C=0.000318/5 (TOMMO)
HGVS:: NC_000022.11:g.44493123T>C, NC_000022.10:g.44889003T>C, NM_032287.3:c.*3714A>G, NM_032287.2:c.*3714A>G

Select item 148650845114.

rs1486508451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:44497951 (GRCh38)
22:44893831 (GRCh37)
Canonical SPDI:: NC_000022.11:44497950:G:A,NC_000022.11:44497950:G:T
Gene:: RTL6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000042/11 (TOPMED)
A=0.000468/3 (1000Genomes)
HGVS:: NC_000022.11:g.44497951G>A, NC_000022.11:g.44497951G>T, NC_000022.10:g.44893831G>A, NC_000022.10:g.44893831G>T

Select item 148610749015.

rs1486107490 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:44494382 (GRCh38)
22:44890263 (GRCh37)
Canonical SPDI:: NC_000022.11:44494382:T:TT
Gene:: RTL6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000076/20 (TOPMED)
HGVS:: NC_000022.11:g.44494383dup, NC_000022.10:g.44890263dup, NM_032287.3:c.*2454dup, NM_032287.2:c.*2454dup

Select item 148593019916.

rs1485930199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:44496611 (GRCh38)
22:44892491 (GRCh37)
Canonical SPDI:: NC_000022.11:44496610:C:G
Gene:: RTL6 (Varview)
Functional Consequence:: 3_prime_UTR_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_000022.11:g.44496611C>G, NC_000022.10:g.44892491C>G, NM_032287.3:c.*226G>C, NM_032287.2:c.*226G>C

Select item 148551487317.

rs1485514873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:44497956 (GRCh38)
22:44893836 (GRCh37)
Canonical SPDI:: NC_000022.11:44497955:C:A
Gene:: RTL6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.44497956C>A, NC_000022.10:g.44893836C>A

Select item 148380823418.

rs1483808234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:44498021 (GRCh38)
22:44893901 (GRCh37)
Canonical SPDI:: NC_000022.11:44498020:C:A
Gene:: RTL6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.44498021C>A, NC_000022.10:g.44893901C>A

Select item 148373559519.

rs1483735595 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 22:44495949 (GRCh38)
22:44891829 (GRCh37)
Canonical SPDI:: NC_000022.11:44495948:GGG:GG
Gene:: RTL6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.44495951del, NC_000022.10:g.44891831del, NM_032287.3:c.*888del, NM_032287.2:c.*888del

Select item 148373484320.

rs1483734843 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:44494586 (GRCh38)
22:44890466 (GRCh37)
Canonical SPDI:: NC_000022.11:44494585:T:C
Gene:: RTL6 (Varview)
Functional Consequence:: 3_prime_UTR_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_000022.11:g.44494586T>C, NC_000022.10:g.44890466T>C, NM_032287.3:c.*2251A>G, NM_032287.2:c.*2251A>G

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