SNP Links for Gene (Select 80135) - SNP

Links from Gene

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Select item 14915026111.

rs1491502611 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:84493332 (GRCh38)
1:84959015 (GRCh37)
Canonical SPDI:: NC_000001.11:84493331:CA:
Gene:: RPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.84493332_84493333del, NC_000001.10:g.84959015_84959016del

Select item 14910736972.

rs1491073697 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:84478200 (GRCh38)
1:84943883 (GRCh37)
Canonical SPDI:: NC_000001.11:84478199:AC:
Gene:: RPF1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000228/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000227/1 (Estonian)
HGVS:: NC_000001.11:g.84478200_84478201del, NC_000001.10:g.84943883_84943884del

Select item 14909860153.

rs1490986015 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:84488190 (GRCh38)
1:84953873 (GRCh37)
Canonical SPDI:: NC_000001.11:84488189:T:C
Gene:: RPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.84488190T>C, NC_000001.10:g.84953873T>C

Select item 14908169484.

rs1490816948 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:84480707 (GRCh38)
1:84946390 (GRCh37)
Canonical SPDI:: NC_000001.11:84480706:T:A
Gene:: RPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.84480707T>A, NC_000001.10:g.84946390T>A

Select item 14907260575.

rs1490726057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:84495057 (GRCh38)
1:84960740 (GRCh37)
Canonical SPDI:: NC_000001.11:84495056:G:C
Gene:: RPF1 (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_000001.11:g.84495057G>C, NC_000001.10:g.84960740G>C

Select item 14906147226.

rs1490614722 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:84496526 (GRCh38)
1:84962209 (GRCh37)
Canonical SPDI:: NC_000001.11:84496525:A:G
Gene:: RPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.84496526A>G, NC_000001.10:g.84962209A>G

Select item 14904118497.

rs1490411849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:84486554 (GRCh38)
1:84952237 (GRCh37)
Canonical SPDI:: NC_000001.11:84486553:C:G,NC_000001.11:84486553:C:T
Gene:: RPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.84486554C>G, NC_000001.11:g.84486554C>T, NC_000001.10:g.84952237C>G, NC_000001.10:g.84952237C>T

Select item 14902849938.

rs1490284993 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:84495515 (GRCh38)
1:84961198 (GRCh37)
Canonical SPDI:: NC_000001.11:84495514:T:C
Gene:: RPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.84495515T>C, NC_000001.10:g.84961198T>C

Select item 14901936119.

rs1490193611 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:84490247 (GRCh38)
1:84955930 (GRCh37)
Canonical SPDI:: NC_000001.11:84490246:T:C
Gene:: RPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.84490247T>C, NC_000001.10:g.84955930T>C

Select item 148976960910.

rs1489769609 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:84482296 (GRCh38)
1:84947979 (GRCh37)
Canonical SPDI:: NC_000001.11:84482295:A:G
Gene:: RPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.84482296A>G, NC_000001.10:g.84947979A>G

Select item 148906046011.

rs1489060460 has merged into rs1193400450 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CACACA [Show Flanks]
Chromosome:: 1:84497240 (GRCh38)
1:84962923 (GRCh37)
Canonical SPDI:: NC_000001.11:84497231:CACACACACACA:CACACACA,NC_000001.11:84497231:CACACACACACA:CACACACACACACA
Gene:: RPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACA=0./0 (ALFA)
HGVS:: NC_000001.11:g.84497232CA[4], NC_000001.11:g.84497232CA[7], NC_000001.10:g.84962915CA[4], NC_000001.10:g.84962915CA[7]

Select item 148885822312.

rs1488858223 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:84494343 (GRCh38)
1:84960026 (GRCh37)
Canonical SPDI:: NC_000001.11:84494342:A:C
Gene:: RPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.84494343A>C, NC_000001.10:g.84960026A>C

Select item 148885136513.

rs1488851365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:84482620 (GRCh38)
1:84948303 (GRCh37)
Canonical SPDI:: NC_000001.11:84482619:T:G
Gene:: RPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.84482620T>G, NC_000001.10:g.84948303T>G

Select item 148866884414.

rs1488668844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:84490543 (GRCh38)
1:84956226 (GRCh37)
Canonical SPDI:: NC_000001.11:84490542:A:G
Gene:: RPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.84490543A>G, NC_000001.10:g.84956226A>G

Select item 148862708715.

rs1488627087 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:84480422 (GRCh38)
1:84946105 (GRCh37)
Canonical SPDI:: NC_000001.11:84480421:A:G
Gene:: RPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.84480422A>G, NC_000001.10:g.84946105A>G

Select item 148859891016.

rs1488598910 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:84490173 (GRCh38)
1:84955856 (GRCh37)
Canonical SPDI:: NC_000001.11:84490172:A:T
Gene:: RPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.84490173A>T, NC_000001.10:g.84955856A>T

Select item 148857644817.

rs1488576448 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:84489541 (GRCh38)
1:84955224 (GRCh37)
Canonical SPDI:: NC_000001.11:84489540:AG:
Gene:: RPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.84489541_84489542del, NC_000001.10:g.84955224_84955225del

Select item 148845459218.

rs1488454592 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:84497278 (GRCh38)
1:84962962 (GRCh37)
Canonical SPDI:: NC_000001.11:84497278:T:TT
Gene:: RPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.84497279dup, NC_000001.10:g.84962962dup

Select item 148820025619.

rs1488200256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:84493426 (GRCh38)
1:84959109 (GRCh37)
Canonical SPDI:: NC_000001.11:84493425:C:A
Gene:: RPF1 (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_000001.11:g.84493426C>A, NC_000001.10:g.84959109C>A

Select item 148779859720.

rs1487798597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:84484348 (GRCh38)
1:84950031 (GRCh37)
Canonical SPDI:: NC_000001.11:84484347:C:G
Gene:: RPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.84484348C>G, NC_000001.10:g.84950031C>G

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