SNP Links for Protein (Select 4759276) - SNP

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Links from Protein

Items: 1 to 20 of 477

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Select item 14879612631.

rs1487961263 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:51935234 (GRCh38)
3:51969250 (GRCh37)
Canonical SPDI:: NC_000003.12:51935233:T:C
Gene:: RRP9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000049/13 (TOPMED)
HGVS:: NC_000003.12:g.51935234T>C, NC_000003.11:g.51969250T>C, NM_004704.5:c.997A>G, NM_004704.4:c.997A>G, XM_047449172.1:c.865A>G, NP_004695.1:p.Ile333Val, XP_047305128.1:p.Ile289Val

Select item 14872563162.

rs1487256316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:51933547 (GRCh38)
3:51967563 (GRCh37)
Canonical SPDI:: NC_000003.12:51933546:G:C
Gene:: RRP9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.51933547G>C, NC_000003.11:g.51967563G>C, NM_004704.5:c.1387C>G, NM_004704.4:c.1387C>G, XM_047449172.1:c.1255C>G, NP_004695.1:p.Pro463Ala, XP_047305128.1:p.Pro419Ala

Select item 14862659313.

rs1486265931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:51941480 (GRCh38)
3:51975496 (GRCh37)
Canonical SPDI:: NC_000003.12:51941479:C:A,NC_000003.12:51941479:C:G
Gene:: RRP9 (Varview), PARP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.00003/8 (TOPMED)
G=0.000071/1 (TOMMO)
HGVS:: NC_000003.12:g.51941480C>A, NC_000003.12:g.51941480C>G, NC_000003.11:g.51975496C>A, NC_000003.11:g.51975496C>G, NM_004704.5:c.99G>T, NM_004704.5:c.99G>C, NM_004704.4:c.99G>T, NM_004704.4:c.99G>C, XM_047449172.1:c.-34G>T, XM_047449172.1:c.-34G>C

Select item 14858214044.

rs1485821404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:51936490 (GRCh38)
3:51970506 (GRCh37)
Canonical SPDI:: NC_000003.12:51936489:G:A
Gene:: RRP9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.51936490G>A, NC_000003.11:g.51970506G>A, NM_004704.5:c.583C>T, NM_004704.4:c.583C>T, XM_047449172.1:c.451C>T, NP_004695.1:p.Pro195Ser, XP_047305128.1:p.Pro151Ser

Select item 14816779685.

rs1481677968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:51935258 (GRCh38)
3:51969274 (GRCh37)
Canonical SPDI:: NC_000003.12:51935257:C:A
Gene:: RRP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.51935258C>A, NC_000003.11:g.51969274C>A, NM_004704.5:c.973G>T, NM_004704.4:c.973G>T, XM_047449172.1:c.841G>T, NP_004695.1:p.Gly325Cys, XP_047305128.1:p.Gly281Cys

Select item 14799422676.

rs1479942267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:51936537 (GRCh38)
3:51970553 (GRCh37)
Canonical SPDI:: NC_000003.12:51936536:C:T
Gene:: RRP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000062/2 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.51936537C>T, NC_000003.11:g.51970553C>T, NM_004704.5:c.536G>A, NM_004704.4:c.536G>A, XM_047449172.1:c.404G>A, NP_004695.1:p.Arg179Gln, XP_047305128.1:p.Arg135Gln

Select item 14766457097.

rs1476645709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:51934776 (GRCh38)
3:51968792 (GRCh37)
Canonical SPDI:: NC_000003.12:51934775:G:A
Gene:: RRP9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.51934776G>A, NC_000003.11:g.51968792G>A, NM_004704.5:c.1035C>T, NM_004704.4:c.1035C>T, XM_047449172.1:c.903C>T

Select item 14762390718.

rs1476239071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:51935691 (GRCh38)
3:51969707 (GRCh37)
Canonical SPDI:: NC_000003.12:51935690:C:T
Gene:: RRP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.51935691C>T, NC_000003.11:g.51969707C>T, NM_004704.5:c.737G>A, NM_004704.4:c.737G>A, XM_047449172.1:c.605G>A, NP_004695.1:p.Gly246Asp, XP_047305128.1:p.Gly202Asp

Select item 14753464979.

rs1475346497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:51937569 (GRCh38)
3:51971585 (GRCh37)
Canonical SPDI:: NC_000003.12:51937568:C:G
Gene:: RRP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.51937569C>G, NC_000003.11:g.51971585C>G, NM_004704.5:c.366G>C, NM_004704.4:c.366G>C, XM_047449172.1:c.234G>C, NP_004695.1:p.Arg122Ser, XP_047305128.1:p.Arg78Ser

Select item 147296906210.

rs1472969062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:51935386 (GRCh38)
3:51969402 (GRCh37)
Canonical SPDI:: NC_000003.12:51935385:C:T
Gene:: RRP9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000003.12:g.51935386C>T, NC_000003.11:g.51969402C>T, NM_004704.5:c.927G>A, NM_004704.4:c.927G>A, XM_047449172.1:c.795G>A

Select item 147175094911.

rs1471750949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:51938196 (GRCh38)
3:51972212 (GRCh37)
Canonical SPDI:: NC_000003.12:51938195:G:A
Gene:: RRP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.51938196G>A, NC_000003.11:g.51972212G>A, NM_004704.5:c.179C>T, NM_004704.4:c.179C>T, XM_047449172.1:c.47C>T, NP_004695.1:p.Pro60Leu, XP_047305128.1:p.Pro16Leu

Select item 146633572412.

rs1466335724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:51935346 (GRCh38)
3:51969362 (GRCh37)
Canonical SPDI:: NC_000003.12:51935345:G:C
Gene:: RRP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.51935346G>C, NC_000003.11:g.51969362G>C, NM_004704.5:c.967C>G, NM_004704.4:c.967C>G, XM_047449172.1:c.835C>G, NP_004695.1:p.His323Asp, XP_047305128.1:p.His279Asp

Select item 146611539713.

rs1466115397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:51936295 (GRCh38)
3:51970311 (GRCh37)
Canonical SPDI:: NC_000003.12:51936294:G:A
Gene:: RRP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.51936295G>A, NC_000003.11:g.51970311G>A, NM_004704.5:c.697C>T, NM_004704.4:c.697C>T, XM_047449172.1:c.565C>T, NP_004695.1:p.His233Tyr, XP_047305128.1:p.His189Tyr

Select item 146574495614.

rs1465744956 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:51938174 (GRCh38)
3:51972190 (GRCh37)
Canonical SPDI:: NC_000003.12:51938173:C:G
Gene:: RRP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.51938174C>G, NC_000003.11:g.51972190C>G, NM_004704.5:c.201G>C, NM_004704.4:c.201G>C, XM_047449172.1:c.69G>C, NP_004695.1:p.Glu67Asp, XP_047305128.1:p.Glu23Asp

Select item 146455197615.

rs1464551976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:51933571 (GRCh38)
3:51967587 (GRCh37)
Canonical SPDI:: NC_000003.12:51933570:C:G
Gene:: RRP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.51933571C>G, NC_000003.11:g.51967587C>G, NM_004704.5:c.1363G>C, NM_004704.4:c.1363G>C, XM_047449172.1:c.1231G>C, NP_004695.1:p.Ala455Pro, XP_047305128.1:p.Ala411Pro

Select item 146111492616.

rs1461114926 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:51937200 (GRCh38)
3:51971216 (GRCh37)
Canonical SPDI:: NC_000003.12:51937199:A:C
Gene:: RRP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000003.12:g.51937200A>C, NC_000003.11:g.51971216A>C, NM_004704.5:c.509T>G, NM_004704.4:c.509T>G, XM_047449172.1:c.377T>G, NP_004695.1:p.Ile170Ser, XP_047305128.1:p.Ile126Ser

Select item 146094701517.

rs1460947015 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:51936278 (GRCh38)
3:51970294 (GRCh37)
Canonical SPDI:: NC_000003.12:51936277:T:C
Gene:: RRP9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.51936278T>C, NC_000003.11:g.51970294T>C, NM_004704.5:c.714A>G, NM_004704.4:c.714A>G, XM_047449172.1:c.582A>G

Select item 145747404318.

rs1457474043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:51934701 (GRCh38)
3:51968717 (GRCh37)
Canonical SPDI:: NC_000003.12:51934700:C:T
Gene:: RRP9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.51934701C>T, NC_000003.11:g.51968717C>T, NM_004704.5:c.1110G>A, NM_004704.4:c.1110G>A, XM_047449172.1:c.978G>A

Select item 145510547819.

rs1455105478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:51936300 (GRCh38)
3:51970316 (GRCh37)
Canonical SPDI:: NC_000003.12:51936299:C:A
Gene:: RRP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.51936300C>A, NC_000003.11:g.51970316C>A, NM_004704.5:c.692G>T, NM_004704.4:c.692G>T, XM_047449172.1:c.560G>T, NP_004695.1:p.Cys231Phe, XP_047305128.1:p.Cys187Phe

Select item 145483202320.

rs1454832023 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:51936463 (GRCh38)
3:51970479 (GRCh37)
Canonical SPDI:: NC_000003.12:51936462:A:G
Gene:: RRP9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.51936463A>G, NC_000003.11:g.51970479A>G, NM_004704.5:c.610T>C, NM_004704.4:c.610T>C, XM_047449172.1:c.478T>C, NP_004695.1:p.Cys204Arg, XP_047305128.1:p.Cys160Arg

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