SNP Links for Protein (Select 94536842) - SNP

Links from Protein

Items: 1 to 20 of 315

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Select item 14894223501.

rs1489422350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:88729313 (GRCh38)
2:89028831 (GRCh37)
Canonical SPDI:: NC_000002.12:88729312:C:T
Gene:: RPIA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.88729313C>T, NC_000002.11:g.89028831C>T, NG_016710.2:g.42642C>T, NG_016710.1:g.42656C>T, NM_144563.3:c.438C>T, NM_144563.2:c.438C>T, XM_047443733.1:c.438C>T

Select item 14892792802.

rs1489279280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:88737992 (GRCh38)
2:89037509 (GRCh37)
Canonical SPDI:: NC_000002.12:88737991:G:C
Gene:: RPIA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.88737992G>C, NC_000002.11:g.89037509G>C, NG_016710.2:g.51321G>C, NG_016710.1:g.51334G>C, NM_144563.3:c.754G>C, NM_144563.2:c.754G>C, NP_653164.2:p.Asp252His

Select item 14883067643.

rs1488306764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:88691758 (GRCh38)
2:88991276 (GRCh37)
Canonical SPDI:: NC_000002.12:88691757:G:A,NC_000002.12:88691757:G:C
Gene:: RPIA (Varview), LOC102724805 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.88691758G>A, NC_000002.12:g.88691758G>C, NC_000002.11:g.88991276G>A, NC_000002.11:g.88991276G>C, NG_016710.2:g.5087G>A, NG_016710.2:g.5087G>C, NG_016710.1:g.5101G>A, NG_016710.1:g.5101G>C, NM_144563.3:c.60G>A, NM_144563.3:c.60G>C, NM_144563.2:c.60G>A, NM_144563.2:c.60G>C, XM_047443733.1:c.60G>A, XM_047443733.1:c.60G>C

Select item 14786689254.

rs1478668925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:88700019 (GRCh38)
2:88999537 (GRCh37)
Canonical SPDI:: NC_000002.12:88700018:G:A
Gene:: RPIA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000002.12:g.88700019G>A, NC_000002.11:g.88999537G>A, NG_016710.2:g.13348G>A, NG_016710.1:g.13362G>A, NM_144563.3:c.357G>A, NM_144563.2:c.357G>A, XM_047443733.1:c.357G>A

Select item 14779305685.

rs1477930568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:88691835 (GRCh38)
2:88991353 (GRCh37)
Canonical SPDI:: NC_000002.12:88691834:G:T
Gene:: RPIA (Varview), LOC102724805 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_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_000002.12:g.88691835G>T, NC_000002.11:g.88991353G>T, NG_016710.2:g.5164G>T, NG_016710.1:g.5178G>T, NM_144563.3:c.137G>T, NM_144563.2:c.137G>T, XM_047443733.1:c.137G>T, NP_653164.2:p.Arg46Leu, XP_047299689.1:p.Arg46Leu

Select item 14726248966.

rs1472624896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:88736618 (GRCh38)
2:89036135 (GRCh37)
Canonical SPDI:: NC_000002.12:88736617:G:A,NC_000002.12:88736617:G:T
Gene:: RPIA (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.88736618G>A, NC_000002.12:g.88736618G>T, NC_000002.11:g.89036135G>A, NC_000002.11:g.89036135G>T, NG_016710.2:g.49947G>A, NG_016710.2:g.49947G>T, NG_016710.1:g.49960G>A, NG_016710.1:g.49960G>T, NM_144563.3:c.680G>A, NM_144563.3:c.680G>T, NM_144563.2:c.680G>A, NM_144563.2:c.680G>T, NP_653164.2:p.Arg227Gln, NP_653164.2:p.Arg227Leu

Select item 14720248267.

rs1472024826 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:88691879 (GRCh38)
2:88991397 (GRCh37)
Canonical SPDI:: NC_000002.12:88691878:A:T
Gene:: RPIA (Varview), LOC102724805 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.88691879A>T, NC_000002.11:g.88991397A>T, NG_016710.2:g.5208A>T, NG_016710.1:g.5222A>T, NM_144563.3:c.181A>T, NM_144563.2:c.181A>T, XM_047443733.1:c.181A>T, NP_653164.2:p.Ser61Cys, XP_047299689.1:p.Ser61Cys

Select item 14688568718.

rs1468856871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:88736632 (GRCh38)
2:89036149 (GRCh37)
Canonical SPDI:: NC_000002.12:88736631:A:G
Gene:: RPIA (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.88736632A>G, NC_000002.11:g.89036149A>G, NG_016710.2:g.49961A>G, NG_016710.1:g.49974A>G, NM_144563.3:c.694A>G, NM_144563.2:c.694A>G, NP_653164.2:p.Lys232Glu

Select item 14551025339.

rs1455102533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:88698485 (GRCh38)
2:88998003 (GRCh37)
Canonical SPDI:: NC_000002.12:88698484:A:G
Gene:: RPIA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.88698485A>G, NC_000002.11:g.88998003A>G, NG_016710.2:g.11814A>G, NG_016710.1:g.11828A>G, NM_144563.3:c.287A>G, NM_144563.2:c.287A>G, XM_047443733.1:c.287A>G, NP_653164.2:p.Asn96Ser, XP_047299689.1:p.Asn96Ser

Select item 145377670110.

rs1453776701 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:88700033 (GRCh38)
2:88999551 (GRCh37)
Canonical SPDI:: NC_000002.12:88700032:T:G
Gene:: RPIA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.88700033T>G, NC_000002.11:g.88999551T>G, NG_016710.2:g.13362T>G, NG_016710.1:g.13376T>G, NM_144563.3:c.371T>G, NM_144563.2:c.371T>G, XM_047443733.1:c.371T>G, NP_653164.2:p.Leu124Arg, XP_047299689.1:p.Leu124Arg

Select item 145198641911.

rs1451986419 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:88738026 (GRCh38)
2:89037543 (GRCh37)
Canonical SPDI:: NC_000002.12:88738025:A:G
Gene:: RPIA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.88738026A>G, NC_000002.11:g.89037543A>G, NG_016710.2:g.51355A>G, NG_016710.1:g.51368A>G, NM_144563.3:c.788A>G, NM_144563.2:c.788A>G, NP_653164.2:p.Asp263Gly

Select item 145128383012.

rs1451283830 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:88735708 (GRCh38)
2:89035226 (GRCh37)
Canonical SPDI:: NC_000002.12:88735708:A:AA
Gene:: RPIA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.88735709dup, NC_000002.11:g.89035226dup, NG_016710.2:g.49038dup, NG_016710.1:g.49051dup, NM_144563.3:c.568dup, NM_144563.2:c.568dup, NP_653164.2:p.Ser190fs

Select item 145099655313.

rs1450996553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:88736554 (GRCh38)
2:89036071 (GRCh37)
Canonical SPDI:: NC_000002.12:88736553:G:A
Gene:: RPIA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.88736554G>A, NC_000002.11:g.89036071G>A, NG_016710.2:g.49883G>A, NG_016710.1:g.49896G>A, NM_144563.3:c.616G>A, NM_144563.2:c.616G>A, NP_653164.2:p.Gly206Arg

Select item 144863325514.

rs1448633255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:88691713 (GRCh38)
2:88991231 (GRCh37)
Canonical SPDI:: NC_000002.12:88691712:G:A
Gene:: RPIA (Varview), LOC102724805 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.88691713G>A, NC_000002.11:g.88991231G>A, NG_016710.2:g.5042G>A, NG_016710.1:g.5056G>A, NM_144563.3:c.15G>A, NM_144563.2:c.15G>A, XM_047443733.1:c.15G>A

Select item 144720140715.

rs1447201407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:88749993 (GRCh38)
2:89049510 (GRCh37)
Canonical SPDI:: NC_000002.12:88749992:C:T
Gene:: RPIA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.88749993C>T, NC_000002.11:g.89049510C>T, NG_016710.2:g.63322C>T, NG_016710.1:g.63335C>T, NM_144563.3:c.851C>T, NM_144563.2:c.851C>T, NP_653164.2:p.Thr284Ile

Select item 144584295116.

rs1445842951 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCTCA>- [Show Flanks]
Chromosome:: 2:88734598 (GRCh38)
2:89034115 (GRCh37)
Canonical SPDI:: NC_000002.12:88734591:ATCTCAATCTCA:ATCTCA
Gene:: RPIA (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: ATCTCAATCTCA=0./0 (ALFA)
HGVS:: NC_000002.12:g.88734592ATCTCA[1], NC_000002.11:g.89034109ATCTCA[1], NG_016710.2:g.47921ATCTCA[1], NG_016710.1:g.47934ATCTCA[1], NM_144563.3:c.503ATCTCA[1], NM_144563.2:c.503ATCTCA[1], XM_047443733.1:c.503ATCTCA[1], NP_653164.2:p.Asn170_Leu171del, XP_047299689.1:p.Asn170_Leu171del

Select item 144482882017.

rs1444828820 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:88691823 (GRCh38)
2:88991341 (GRCh37)
Canonical SPDI:: NC_000002.12:88691822:G:A
Gene:: RPIA (Varview), LOC102724805 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.88691823G>A, NC_000002.11:g.88991341G>A, NG_016710.2:g.5152G>A, NG_016710.1:g.5166G>A, NM_144563.3:c.125G>A, NM_144563.2:c.125G>A, XM_047443733.1:c.125G>A, NP_653164.2:p.Arg42Gln, XP_047299689.1:p.Arg42Gln

Select item 144109258618.

rs1441092586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:88738018 (GRCh38)
2:89037535 (GRCh37)
Canonical SPDI:: NC_000002.12:88738017:G:A
Gene:: RPIA (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.88738018G>A, NC_000002.11:g.89037535G>A, NG_016710.2:g.51347G>A, NG_016710.1:g.51360G>A, NM_144563.3:c.780G>A, NM_144563.2:c.780G>A, NP_653164.2:p.Trp260Ter

Select item 144073362719.

rs1440733627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:88736553 (GRCh38)
2:89036070 (GRCh37)
Canonical SPDI:: NC_000002.12:88736552:C:T
Gene:: RPIA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.88736553C>T, NC_000002.11:g.89036070C>T, NG_016710.2:g.49882C>T, NG_016710.1:g.49895C>T, NM_144563.3:c.615C>T, NM_144563.2:c.615C>T

Select item 143391993220.

rs1433919932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:88691770 (GRCh38)
2:88991288 (GRCh37)
Canonical SPDI:: NC_000002.12:88691769:C:A
Gene:: RPIA (Varview), LOC102724805 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.88691770C>A, NC_000002.11:g.88991288C>A, NG_016710.2:g.5099C>A, NG_016710.1:g.5113C>A, NM_144563.3:c.72C>A, NM_144563.2:c.72C>A, XM_047443733.1:c.72C>A

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