SNP Links for Nucleotide (Select 338753398) - SNP

Links from Nucleotide

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Select item 14879936301.

rs1487993630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:76145018 (GRCh38)
17:74141099 (GRCh37)
Canonical SPDI:: NC_000017.11:76145017:C:T
Gene:: RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.76145018C>T, NC_000017.10:g.74141099C>T, NG_013345.1:g.1282G>A, NM_052916.3:c.*217G>A, NM_052916.2:c.*217G>A, XM_017024120.3:c.*217G>A, NM_001330501.2:c.*217G>A, NM_001330501.1:c.*217G>A, XM_047435286.1:c.*217G>A, XM_047435287.1:c.*217G>A, XM_047435288.1:c.*217G>A, NR_040017.1:n.341C>T

Select item 14874757132.

rs1487475713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:76147506 (GRCh38)
17:74143587 (GRCh37)
Canonical SPDI:: NC_000017.11:76147505:C:T
Gene:: RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.76147506C>T, NC_000017.10:g.74143587C>T, NR_040017.1:n.829C>T

Select item 14866412793.

rs1486641279 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:76144966 (GRCh38)
17:74141047 (GRCh37)
Canonical SPDI:: NC_000017.11:76144965:A:G
Gene:: RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.76144966A>G, NC_000017.10:g.74141047A>G, NG_013345.1:g.1334T>C, NM_052916.3:c.*269T>C, NM_052916.2:c.*269T>C, XM_017024120.3:c.*269T>C, NM_001330501.2:c.*269T>C, NM_001330501.1:c.*269T>C, XM_047435286.1:c.*269T>C, XM_047435287.1:c.*269T>C, XM_047435288.1:c.*269T>C, NR_040017.1:n.289A>G

Select item 14826088894.

rs1482608889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:76154117 (GRCh38)
17:74150198 (GRCh37)
Canonical SPDI:: NC_000017.11:76154116:G:A
Gene:: RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (KOREAN)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.76154117G>A, NC_000017.10:g.74150198G>A, NR_040017.1:n.1646G>A

Select item 14822176175.

rs1482217617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:76153747 (GRCh38)
17:74149828 (GRCh37)
Canonical SPDI:: NC_000017.11:76153746:C:T
Gene:: RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.76153747C>T, NC_000017.10:g.74149828C>T, NR_040017.1:n.1537C>T

Select item 14815410066.

rs1481541006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:76147403 (GRCh38)
17:74143484 (GRCh37)
Canonical SPDI:: NC_000017.11:76147402:G:A
Gene:: RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.76147403G>A, NC_000017.10:g.74143484G>A, NR_040017.1:n.726G>A

Select item 14793413087.

rs1479341308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:76140677 (GRCh38)
17:74136758 (GRCh37)
Canonical SPDI:: NC_000017.11:76140676:C:A,NC_000017.11:76140676:C:T
Gene:: FOXJ1 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.76140677C>A, NC_000017.11:g.76140677C>T, NC_000017.10:g.74136758C>A, NC_000017.10:g.74136758C>T, NG_013345.1:g.5623G>T, NG_013345.1:g.5623G>A, XM_047435666.1:c.-282G>T, XM_047435666.1:c.-282G>A, NR_040017.1:n.122C>A, NR_040017.1:n.122C>T

Select item 14790261788.

rs1479026178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:76154201 (GRCh38)
17:74150282 (GRCh37)
Canonical SPDI:: NC_000017.11:76154200:C:T
Gene:: RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.76154201C>T, NC_000017.10:g.74150282C>T, NR_040017.1:n.1730C>T

Select item 14761250289.

rs1476125028 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:76145031 (GRCh38)
17:74141112 (GRCh37)
Canonical SPDI:: NC_000017.11:76145030:T:C
Gene:: RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,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_000017.11:g.76145031T>C, NC_000017.10:g.74141112T>C, NG_013345.1:g.1269A>G, NM_052916.3:c.*204A>G, NM_052916.2:c.*204A>G, XM_017024120.3:c.*204A>G, NM_001330501.2:c.*204A>G, NM_001330501.1:c.*204A>G, XM_047435286.1:c.*204A>G, XM_047435287.1:c.*204A>G, XM_047435288.1:c.*204A>G, NR_040017.1:n.354T>C

Select item 147448353710.

rs1474483537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:76145457 (GRCh38)
17:74141538 (GRCh37)
Canonical SPDI:: NC_000017.11:76145456:C:G,NC_000017.11:76145456:C:T
Gene:: RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.76145457C>G, NC_000017.11:g.76145457C>T, NC_000017.10:g.74141538C>G, NC_000017.10:g.74141538C>T, NG_013345.1:g.843G>C, NG_013345.1:g.843G>A, NR_040017.1:n.445C>G, NR_040017.1:n.445C>T

Select item 147431162311.

rs1474311623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:76145040 (GRCh38)
17:74141121 (GRCh37)
Canonical SPDI:: NC_000017.11:76145039:G:A
Gene:: RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_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_000017.11:g.76145040G>A, NC_000017.10:g.74141121G>A, NG_013345.1:g.1260C>T, NM_052916.3:c.*195C>T, NM_052916.2:c.*195C>T, XM_017024120.3:c.*195C>T, NM_001330501.2:c.*195C>T, NM_001330501.1:c.*195C>T, XM_047435286.1:c.*195C>T, XM_047435287.1:c.*195C>T, XM_047435288.1:c.*195C>T, NR_040017.1:n.363G>A

Select item 147222909712.

rs1472229097 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:76147366 (GRCh38)
17:74143447 (GRCh37)
Canonical SPDI:: NC_000017.11:76147365:A:G
Gene:: RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,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_000017.11:g.76147366A>G, NC_000017.10:g.74143447A>G, NR_040017.1:n.689A>G

Select item 147094606213.

rs1470946062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:76147592 (GRCh38)
17:74143673 (GRCh37)
Canonical SPDI:: NC_000017.11:76147591:G:A
Gene:: RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.76147592G>A, NC_000017.10:g.74143673G>A, NR_040017.1:n.915G>A

Select item 147093756914.

rs1470937569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:76140574 (GRCh38)
17:74136655 (GRCh37)
Canonical SPDI:: NC_000017.11:76140573:C:T
Gene:: FOXJ1 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.76140574C>T, NC_000017.10:g.74136655C>T, NG_013345.1:g.5726G>A, XM_047435666.1:c.-179G>A, NR_040017.1:n.19C>T

Select item 147066439315.

rs1470664393 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:76154280 (GRCh38)
17:74150361 (GRCh37)
Canonical SPDI:: NC_000017.11:76154279:C:T
Gene:: RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.76154280C>T, NC_000017.10:g.74150361C>T, XM_047435286.1:c.1813G>A, XM_047435287.1:c.1747G>A, XM_047435288.1:c.1612G>A, NR_040017.1:n.1809C>T, XP_047291242.1:p.Gly605Ser, XP_047291243.1:p.Gly583Ser, XP_047291244.1:p.Gly538Ser

Select item 146423493416.

rs1464234934 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGTG>- [Show Flanks]
Chromosome:: 17:76154294 (GRCh38)
17:74150375 (GRCh37)
Canonical SPDI:: NC_000017.11:76154290:GTGGGTG:GTG
Gene:: RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.76154294_76154297del, NC_000017.10:g.74150375_74150378del, NM_052916.3:c.1799_1802del, NM_052916.2:c.1799_1802del, XM_017024120.3:c.1598_1601del, XM_017024120.2:c.1598_1601del, XM_017024120.1:c.1598_1601del, NM_001330501.2:c.1733_1736del, NM_001330501.1:c.1733_1736del, XM_047435286.1:c.1799_1802del, XM_047435287.1:c.1733_1736del, XM_047435288.1:c.1598_1601del, NR_040017.1:n.1823_1826del, NP_443148.1:p.Pro600fs, XP_016879609.2:p.Pro533fs, NP_001317430.1:p.Pro578fs, XP_047291242.1:p.Pro600fs, XP_047291243.1:p.Pro578fs, XP_047291244.1:p.Pro533fs

Select item 146409678417.

rs1464096784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:76153328 (GRCh38)
17:74149409 (GRCh37)
Canonical SPDI:: NC_000017.11:76153327:C:A,NC_000017.11:76153327:C:G,NC_000017.11:76153327:C:T
Gene:: RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.76153328C>A, NC_000017.11:g.76153328C>G, NC_000017.11:g.76153328C>T, NC_000017.10:g.74149409C>A, NC_000017.10:g.74149409C>G, NC_000017.10:g.74149409C>T, NR_040017.1:n.1118C>A, NR_040017.1:n.1118C>G, NR_040017.1:n.1118C>T

Select item 146214779018.

rs1462147790 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:76140574 (GRCh38)
17:74136655 (GRCh37)
Canonical SPDI:: NC_000017.11:76140573:CC:C
Gene:: FOXJ1 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.76140575del, NC_000017.10:g.74136656del, NG_013345.1:g.5726del, XM_047435666.1:c.-179del, NR_040017.1:n.20del

Select item 146157882319.

rs1461578823 has merged into rs950559167 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCA>-,GCAGCA [Show Flanks]
Chromosome:: 17:76147386 (GRCh38)
17:74143467 (GRCh37)
Canonical SPDI:: NC_000017.11:76147380:CAGCAGCA:CAGCA,NC_000017.11:76147380:CAGCAGCA:CAGCAGCAGCA
Gene:: RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAGCAGCAGCA=0./0 (ALFA)
HGVS:: NC_000017.11:g.76147383GCA[1], NC_000017.11:g.76147383GCA[3], NC_000017.10:g.74143464GCA[1], NC_000017.10:g.74143464GCA[3], NR_040017.1:n.706GCA[1], NR_040017.1:n.706GCA[3]

Select item 146111072220.

rs1461110722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:76153340 (GRCh38)
17:74149421 (GRCh37)
Canonical SPDI:: NC_000017.11:76153339:G:A
Gene:: RNF157 (Varview), RNF157-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000142/2 (TOMMO)
A=0.000684/2 (KOREAN)
HGVS:: NC_000017.11:g.76153340G>A, NC_000017.10:g.74149421G>A, NR_040017.1:n.1130G>A

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