SNP Links for Gene (Select 54546) - SNP

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Items: 1 to 20 of 994

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Select item 14899707411.

rs1489970741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:19814504 (GRCh38)
1:20140997 (GRCh37)
Canonical SPDI:: NC_000001.11:19814503:G:A
Gene:: RNF186 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.19814504G>A, NC_000001.10:g.20140997G>A, NM_019062.2:c.598C>T, NM_019062.1:c.598C>T, NP_061935.1:p.Pro200Ser

Select item 14881521422.

rs1488152142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:19814945 (GRCh38)
1:20141438 (GRCh37)
Canonical SPDI:: NC_000001.11:19814944:G:A
Gene:: RNF186 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.19814945G>A, NC_000001.10:g.20141438G>A, NM_019062.2:c.157C>T, NM_019062.1:c.157C>T, NP_061935.1:p.Pro53Ser

Select item 14879577423.

rs1487957742 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:19815517 (GRCh38)
1:20142010 (GRCh37)
Canonical SPDI:: NC_000001.11:19815516:CC:C
Gene:: RNF186 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.19815518del, NC_000001.10:g.20142011del

Select item 14876513594.

rs1487651359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:19815619 (GRCh38)
1:20142112 (GRCh37)
Canonical SPDI:: NC_000001.11:19815618:C:T
Gene:: RNF186 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.19815619C>T, NC_000001.10:g.20142112C>T

Select item 14876337255.

rs1487633725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:19815056 (GRCh38)
1:20141549 (GRCh37)
Canonical SPDI:: NC_000001.11:19815055:C:T
Gene:: RNF186 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.19815056C>T, NC_000001.10:g.20141549C>T, NM_019062.2:c.46G>A, NM_019062.1:c.46G>A, NP_061935.1:p.Gly16Arg

Select item 14860523376.

rs1486052337 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:19813832 (GRCh38)
1:20140325 (GRCh37)
Canonical SPDI:: NC_000001.11:19813831:T:C
Gene:: RNF186 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0./0 (KOREAN)
C=0.000008/2 (TOPMED)
C=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.19813832T>C, NC_000001.10:g.20140325T>C

Select item 14857882977.

rs1485788297 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:19814446 (GRCh38)
1:20140939 (GRCh37)
Canonical SPDI:: NC_000001.11:19814445:T:C
Gene:: RNF186 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.19814446T>C, NC_000001.10:g.20140939T>C, NM_019062.2:c.656A>G, NM_019062.1:c.656A>G, NP_061935.1:p.Lys219Arg

Select item 14856817428.

rs1485681742 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:19815528 (GRCh38)
1:20142021 (GRCh37)
Canonical SPDI:: NC_000001.11:19815527:TTTTTTTT:TTTTTTT,NC_000001.11:19815527:TTTTTTTT:TTTTTTTTT
Gene:: RNF186 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0.000054/1 (ALFA)
-=0.000125/17 (GnomAD)
HGVS:: NC_000001.11:g.19815535del, NC_000001.11:g.19815535dup, NC_000001.10:g.20142028del, NC_000001.10:g.20142028dup

Select item 14854388479.

rs1485438847 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCCCAAA>- [Show Flanks]
Chromosome:: 1:19813707 (GRCh38)
1:20140200 (GRCh37)
Canonical SPDI:: NC_000001.11:19813704:AATTCCCAAA:AA
Gene:: RNF186 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.19813707_19813714del, NC_000001.10:g.20140200_20140207del

Select item 148519560910.

rs1485195609 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:19815272 (GRCh38)
1:20141765 (GRCh37)
Canonical SPDI:: NC_000001.11:19815271:G:
Gene:: RNF186 (Varview)
Functional Consequence:: 5_prime_UTR_variant
HGVS:: NC_000001.11:g.19815272del, NC_000001.10:g.20141765del, NM_019062.2:c.-171del, NM_019062.1:c.-171del

Select item 148475511711.

rs1484755117 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:19816679 (GRCh38)
1:20143172 (GRCh37)
Canonical SPDI:: NC_000001.11:19816678:A:G
Gene:: RNF186 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.19816679A>G, NC_000001.10:g.20143172A>G

Select item 148212685312.

rs1482126853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:19815420 (GRCh38)
1:20141913 (GRCh37)
Canonical SPDI:: NC_000001.11:19815419:G:T
Gene:: RNF186 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000001.11:g.19815420G>T, NC_000001.10:g.20141913G>T

Select item 148166504613.

rs1481665046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:19814904 (GRCh38)
1:20141397 (GRCh37)
Canonical SPDI:: NC_000001.11:19814903:G:T
Gene:: RNF186 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.19814904G>T, NC_000001.10:g.20141397G>T, NM_019062.2:c.198C>A, NM_019062.1:c.198C>A, NP_061935.1:p.Cys66Ter

Select item 148123655014.

rs1481236550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:19816804 (GRCh38)
1:20143297 (GRCh37)
Canonical SPDI:: NC_000001.11:19816803:C:A,NC_000001.11:19816803:C:G
Gene:: RNF186 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.19816804C>A, NC_000001.11:g.19816804C>G, NC_000001.10:g.20143297C>A, NC_000001.10:g.20143297C>G

Select item 147982837315.

rs1479828373 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:19814249 (GRCh38)
1:20140742 (GRCh37)
Canonical SPDI:: NC_000001.11:19814248:T:C
Gene:: RNF186 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.19814249T>C, NC_000001.10:g.20140742T>C, NM_019062.2:c.*169A>G, NM_019062.1:c.*169A>G

Select item 147964860616.

rs1479648606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:19814469 (GRCh38)
1:20140962 (GRCh37)
Canonical SPDI:: NC_000001.11:19814468:C:T
Gene:: RNF186 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.19814469C>T, NC_000001.10:g.20140962C>T, NM_019062.2:c.633G>A, NM_019062.1:c.633G>A

Select item 147950189217.

rs1479501892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:19813839 (GRCh38)
1:20140332 (GRCh37)
Canonical SPDI:: NC_000001.11:19813838:C:G,NC_000001.11:19813838:C:T
Gene:: RNF186 (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=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.19813839C>G, NC_000001.11:g.19813839C>T, NC_000001.10:g.20140332C>G, NC_000001.10:g.20140332C>T

Select item 147894592618.

rs1478945926 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:19815436 (GRCh38)
1:20141929 (GRCh37)
Canonical SPDI:: NC_000001.11:19815435:T:C
Gene:: RNF186 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.19815436T>C, NC_000001.10:g.20141929T>C

Select item 147884407719.

rs1478844077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:19814619 (GRCh38)
1:20141112 (GRCh37)
Canonical SPDI:: NC_000001.11:19814618:C:T
Gene:: RNF186 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.19814619C>T, NC_000001.10:g.20141112C>T, NM_019062.2:c.483G>A, NM_019062.1:c.483G>A

Select item 147818824420.

rs1478188244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:19814271 (GRCh38)
1:20140764 (GRCh37)
Canonical SPDI:: NC_000001.11:19814270:C:G
Gene:: RNF186 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.19814271C>G, NC_000001.10:g.20140764C>G, NM_019062.2:c.*147G>C, NM_019062.1:c.*147G>C

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