SNP Links for Protein (Select 530395607) - SNP

Links from Protein

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Select item 14875367621.

rs1487536762 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:47441725 (GRCh38)
11:47463277 (GRCh37)
Canonical SPDI:: NC_000011.10:47441724:G:A
Gene:: RAPSN (Varview), LOC124902673 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Clinical significance:: likely-benign,uncertain-significance
Validated:: by frequency,by cluster
MAF:: A=0.005/1 (Vietnamese)
HGVS:: NC_000011.10:g.47441725G>A, NC_000011.9:g.47463277G>A, NG_008312.2:g.12411C>T, NG_008312.1:g.12454C>T, NM_005055.5:c.798C>T, NM_005055.4:c.798C>T, XM_005253042.4:c.798C>T, XM_005253042.3:c.798C>T, XM_005253042.2:c.798C>T, XM_005253042.1:c.798C>T, XM_011520252.1:c.798C>T

Select item 14861595802.

rs1486159580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:47437998 (GRCh38)
11:47459549 (GRCh37)
Canonical SPDI:: NC_000011.10:47437997:A:G,NC_000011.10:47437997:A:T
Gene:: RAPSN (Varview), LOC124902673 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000006/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.47437998A>G, NC_000011.10:g.47437998A>T, NC_000011.9:g.47459549A>G, NC_000011.9:g.47459549A>T, NG_008312.2:g.16138T>C, NG_008312.2:g.16138T>A, NG_008312.1:g.16182T>C, NG_008312.1:g.16182T>A, NM_005055.5:c.1216T>C, NM_005055.5:c.1216T>A, NM_005055.4:c.1216T>C, NM_005055.4:c.1216T>A, NM_032645.5:c.1039T>C, NM_032645.5:c.1039T>A, NM_032645.4:c.1039T>C, NM_032645.4:c.1039T>A, XM_005253042.4:c.1162T>C, XM_005253042.4:c.1162T>A, XM_005253042.3:c.1162T>C, XM_005253042.3:c.1162T>A, XM_005253042.2:c.1162T>C, XM_005253042.2:c.1162T>A, XM_005253042.1:c.1162T>C, XM_005253042.1:c.1162T>A, XM_005253043.4:c.1093T>C, XM_005253043.4:c.1093T>A, XM_005253043.3:c.1093T>C, XM_005253043.3:c.1093T>A, XM_005253043.2:c.1093T>C, XM_005253043.2:c.1093T>A, XM_005253043.1:c.1093T>C, XM_005253043.1:c.1093T>A, XM_011520252.1:c.1301T>C, XM_011520252.1:c.1301T>A, NP_005046.2:p.Ser406Pro, NP_005046.2:p.Ser406Thr, NP_116034.2:p.Ser347Pro, NP_116034.2:p.Ser347Thr, XP_005253099.1:p.Ser388Pro, XP_005253099.1:p.Ser388Thr, XP_005253100.1:p.Ser365Pro, XP_005253100.1:p.Ser365Thr, XP_011518554.1:p.Ile434Thr, XP_011518554.1:p.Ile434Asn

Select item 14855709533.

rs1485570953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:47438856 (GRCh38)
11:47460407 (GRCh37)
Canonical SPDI:: NC_000011.10:47438855:G:A
Gene:: RAPSN (Varview), LOC124902673 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000011.10:g.47438856G>A, NC_000011.9:g.47460407G>A, NG_008312.2:g.15280C>T, NG_008312.1:g.15324C>T, NM_005055.5:c.1042C>T, NM_005055.4:c.1042C>T, NM_032645.5:c.865C>T, NM_032645.4:c.865C>T, XM_005253042.4:c.988C>T, XM_005253042.3:c.988C>T, XM_005253042.2:c.988C>T, XM_005253042.1:c.988C>T, XM_005253043.4:c.919C>T, XM_005253043.3:c.919C>T, XM_005253043.2:c.919C>T, XM_005253043.1:c.919C>T, XM_011520252.1:c.1127C>T, NP_005046.2:p.His348Tyr, NP_116034.2:p.His289Tyr, XP_005253099.1:p.His330Tyr, XP_005253100.1:p.His307Tyr, XP_011518554.1:p.Ala376Val

Select item 14794983794.

rs1479498379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:47447973 (GRCh38)
11:47469525 (GRCh37)
Canonical SPDI:: NC_000011.10:47447972:G:A
Gene:: RAPSN (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.47447973G>A, NC_000011.9:g.47469525G>A, NG_008312.2:g.6163C>T, NG_008312.1:g.6206C>T, NM_005055.5:c.370C>T, NM_005055.4:c.370C>T, NM_032645.5:c.370C>T, NM_032645.4:c.370C>T, XM_005253042.4:c.370C>T, XM_005253042.3:c.370C>T, XM_005253042.2:c.370C>T, XM_005253042.1:c.370C>T, XM_005253043.4:c.370C>T, XM_005253043.3:c.370C>T, XM_005253043.2:c.370C>T, XM_005253043.1:c.370C>T, XM_011520252.1:c.370C>T, NP_005046.2:p.Gln124Ter, NP_116034.2:p.Gln124Ter, XP_005253099.1:p.Gln124Ter, XP_005253100.1:p.Gln124Ter, XP_011518554.1:p.Gln124Ter

Select item 14778979625.

rs1477897962 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:47447984 (GRCh38)
11:47469536 (GRCh37)
Canonical SPDI:: NC_000011.10:47447983:T:C
Gene:: RAPSN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.47447984T>C, NC_000011.9:g.47469536T>C, NG_008312.2:g.6152A>G, NG_008312.1:g.6195A>G, NM_005055.5:c.359A>G, NM_005055.4:c.359A>G, NM_032645.5:c.359A>G, NM_032645.4:c.359A>G, XM_005253042.4:c.359A>G, XM_005253042.3:c.359A>G, XM_005253042.2:c.359A>G, XM_005253042.1:c.359A>G, XM_005253043.4:c.359A>G, XM_005253043.3:c.359A>G, XM_005253043.2:c.359A>G, XM_005253043.1:c.359A>G, XM_011520252.1:c.359A>G, NP_005046.2:p.Gln120Arg, NP_116034.2:p.Gln120Arg, XP_005253099.1:p.Gln120Arg, XP_005253100.1:p.Gln120Arg, XP_011518554.1:p.Gln120Arg

Select item 14768440776.

rs1476844077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:47441646 (GRCh38)
11:47463198 (GRCh37)
Canonical SPDI:: NC_000011.10:47441645:C:T
Gene:: RAPSN (Varview), LOC124902673 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.47441646C>T, NC_000011.9:g.47463198C>T, NG_008312.2:g.12490G>A, NG_008312.1:g.12533G>A, NM_005055.5:c.877G>A, NM_005055.4:c.877G>A, XM_005253042.4:c.877G>A, XM_005253042.3:c.877G>A, XM_005253042.2:c.877G>A, XM_005253042.1:c.877G>A, XM_011520252.1:c.877G>A, NP_005046.2:p.Ala293Thr, XP_005253099.1:p.Ala293Thr, XP_011518554.1:p.Ala293Thr

Select item 14750151827.

rs1475015182 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:47438827 (GRCh38)
11:47460379 (GRCh37)
Canonical SPDI:: NC_000011.10:47438827:T:TT
Gene:: RAPSN (Varview), LOC124902673 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.47438828dup, NC_000011.9:g.47460379dup, NG_008312.2:g.15308dup, NG_008312.1:g.15352dup, NM_005055.5:c.1070dup, NM_005055.4:c.1070dup, NM_032645.5:c.893dup, NM_032645.4:c.893dup, XM_005253042.4:c.1016dup, XM_005253042.3:c.1016dup, XM_005253042.2:c.1016dup, XM_005253042.1:c.1016dup, XM_005253043.4:c.947dup, XM_005253043.3:c.947dup, XM_005253043.2:c.947dup, XM_005253043.1:c.947dup, XM_011520252.1:c.1155dup, NP_005046.2:p.Glu358fs, NP_116034.2:p.Glu299fs, XP_005253099.1:p.Glu340fs, XP_005253100.1:p.Glu317fs, XP_011518554.1:p.Gly386fs

Select item 14742388938.

rs1474238893 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:47447879 (GRCh38)
11:47469431 (GRCh37)
Canonical SPDI:: NC_000011.10:47447878:T:C
Gene:: RAPSN (Varview), LOC124902673 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.47447879T>C, NC_000011.9:g.47469431T>C, NG_008312.2:g.6257A>G, NG_008312.1:g.6300A>G, NM_005055.5:c.464A>G, NM_005055.4:c.464A>G, NM_032645.5:c.464A>G, NM_032645.4:c.464A>G, XM_005253042.4:c.464A>G, XM_005253042.3:c.464A>G, XM_005253042.2:c.464A>G, XM_005253042.1:c.464A>G, XM_005253043.4:c.464A>G, XM_005253043.3:c.464A>G, XM_005253043.2:c.464A>G, XM_005253043.1:c.464A>G, XM_011520252.1:c.464A>G, NP_005046.2:p.Asn155Ser, NP_116034.2:p.Asn155Ser, XP_005253099.1:p.Asn155Ser, XP_005253100.1:p.Asn155Ser, XP_011518554.1:p.Asn155Ser

Select item 14699103989.

rs1469910398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:47438914 (GRCh38)
11:47460465 (GRCh37)
Canonical SPDI:: NC_000011.10:47438913:C:A,NC_000011.10:47438913:C:T
Gene:: RAPSN (Varview), LOC124902673 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.47438914C>A, NC_000011.10:g.47438914C>T, NC_000011.9:g.47460465C>A, NC_000011.9:g.47460465C>T, NG_008312.2:g.15222G>T, NG_008312.2:g.15222G>A, NG_008312.1:g.15266G>T, NG_008312.1:g.15266G>A, NM_005055.5:c.984G>T, NM_005055.5:c.984G>A, NM_005055.4:c.984G>T, NM_005055.4:c.984G>A, NM_032645.5:c.807G>T, NM_032645.5:c.807G>A, NM_032645.4:c.807G>T, NM_032645.4:c.807G>A, XM_005253042.4:c.930G>T, XM_005253042.4:c.930G>A, XM_005253042.3:c.930G>T, XM_005253042.3:c.930G>A, XM_005253042.2:c.930G>T, XM_005253042.2:c.930G>A, XM_005253042.1:c.930G>T, XM_005253042.1:c.930G>A, XM_005253043.4:c.861G>T, XM_005253043.4:c.861G>A, XM_005253043.3:c.861G>T, XM_005253043.3:c.861G>A, XM_005253043.2:c.861G>T, XM_005253043.2:c.861G>A, XM_005253043.1:c.861G>T, XM_005253043.1:c.861G>A, XM_011520252.1:c.1069G>T, XM_011520252.1:c.1069G>A, XP_011518554.1:p.Ala357Ser, XP_011518554.1:p.Ala357Thr

Select item 146964617210.

rs1469646172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:47448850 (GRCh38)
11:47470402 (GRCh37)
Canonical SPDI:: NC_000011.10:47448849:G:C
Gene:: RAPSN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.47448850G>C, NC_000011.9:g.47470402G>C, NG_008312.2:g.5286C>G, NG_008312.1:g.5329C>G, NM_005055.5:c.115C>G, NM_005055.4:c.115C>G, NM_032645.5:c.115C>G, NM_032645.4:c.115C>G, XM_005253042.4:c.115C>G, XM_005253042.3:c.115C>G, XM_005253042.2:c.115C>G, XM_005253042.1:c.115C>G, XM_005253043.4:c.115C>G, XM_005253043.3:c.115C>G, XM_005253043.2:c.115C>G, XM_005253043.1:c.115C>G, XM_011520252.1:c.115C>G, NP_005046.2:p.Leu39Val, NP_116034.2:p.Leu39Val, XP_005253099.1:p.Leu39Val, XP_005253100.1:p.Leu39Val, XP_011518554.1:p.Leu39Val

Select item 146932081811.

rs1469320818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:47441622 (GRCh38)
11:47463174 (GRCh37)
Canonical SPDI:: NC_000011.10:47441621:C:T
Gene:: RAPSN (Varview), LOC124902673 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000057/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.47441622C>T, NC_000011.9:g.47463174C>T, NG_008312.2:g.12514G>A, NG_008312.1:g.12557G>A, NM_005055.5:c.901G>A, NM_005055.4:c.901G>A, XM_005253042.4:c.901G>A, XM_005253042.3:c.901G>A, XM_005253042.2:c.901G>A, XM_005253042.1:c.901G>A, XM_011520252.1:c.901G>A, NP_005046.2:p.Ala301Thr, XP_005253099.1:p.Ala301Thr, XP_011518554.1:p.Ala301Thr

Select item 146657687712.

rs1466576877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:47447935 (GRCh38)
11:47469487 (GRCh37)
Canonical SPDI:: NC_000011.10:47447934:G:A
Gene:: RAPSN (Varview), LOC124902673 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.47447935G>A, NC_000011.9:g.47469487G>A, NG_008312.2:g.6201C>T, NG_008312.1:g.6244C>T, NM_005055.5:c.408C>T, NM_005055.4:c.408C>T, NM_032645.5:c.408C>T, NM_032645.4:c.408C>T, XM_005253042.4:c.408C>T, XM_005253042.3:c.408C>T, XM_005253042.2:c.408C>T, XM_005253042.1:c.408C>T, XM_005253043.4:c.408C>T, XM_005253043.3:c.408C>T, XM_005253043.2:c.408C>T, XM_005253043.1:c.408C>T, XM_011520252.1:c.408C>T

Select item 146365120213.

rs1463651202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:47442671 (GRCh38)
11:47464223 (GRCh37)
Canonical SPDI:: NC_000011.10:47442670:G:A
Gene:: RAPSN (Varview), LOC124902673 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.47442671G>A, NC_000011.9:g.47464223G>A, NG_008312.2:g.11465C>T, NG_008312.1:g.11508C>T, NM_005055.5:c.675C>T, NM_005055.4:c.675C>T, NM_032645.5:c.675C>T, NM_032645.4:c.675C>T, XM_005253042.4:c.675C>T, XM_005253042.3:c.675C>T, XM_005253042.2:c.675C>T, XM_005253042.1:c.675C>T, XM_005253043.4:c.675C>T, XM_005253043.3:c.675C>T, XM_005253043.2:c.675C>T, XM_005253043.1:c.675C>T, XM_011520252.1:c.675C>T

Select item 145905946314.

rs1459059463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:47447905 (GRCh38)
11:47469457 (GRCh37)
Canonical SPDI:: NC_000011.10:47447904:G:A
Gene:: RAPSN (Varview), LOC124902673 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000106/2 (TOMMO)
HGVS:: NC_000011.10:g.47447905G>A, NC_000011.9:g.47469457G>A, NG_008312.2:g.6231C>T, NG_008312.1:g.6274C>T, NM_005055.5:c.438C>T, NM_005055.4:c.438C>T, NM_032645.5:c.438C>T, NM_032645.4:c.438C>T, XM_005253042.4:c.438C>T, XM_005253042.3:c.438C>T, XM_005253042.2:c.438C>T, XM_005253042.1:c.438C>T, XM_005253043.4:c.438C>T, XM_005253043.3:c.438C>T, XM_005253043.2:c.438C>T, XM_005253043.1:c.438C>T, XM_011520252.1:c.438C>T

Select item 145773339615.

rs1457733396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:47442727 (GRCh38)
11:47464279 (GRCh37)
Canonical SPDI:: NC_000011.10:47442726:T:C
Gene:: RAPSN (Varview), LOC124902673 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.47442727T>C, NC_000011.9:g.47464279T>C, NG_008312.2:g.11409A>G, NG_008312.1:g.11452A>G, NM_005055.5:c.619A>G, NM_005055.4:c.619A>G, NM_032645.5:c.619A>G, NM_032645.4:c.619A>G, XM_005253042.4:c.619A>G, XM_005253042.3:c.619A>G, XM_005253042.2:c.619A>G, XM_005253042.1:c.619A>G, XM_005253043.4:c.619A>G, XM_005253043.3:c.619A>G, XM_005253043.2:c.619A>G, XM_005253043.1:c.619A>G, XM_011520252.1:c.619A>G, NP_005046.2:p.Met207Val, NP_116034.2:p.Met207Val, XP_005253099.1:p.Met207Val, XP_005253100.1:p.Met207Val, XP_011518554.1:p.Met207Val

Select item 145248285916.

rs1452482859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:47442808 (GRCh38)
11:47464360 (GRCh37)
Canonical SPDI:: NC_000011.10:47442807:C:T
Gene:: RAPSN (Varview), LOC124902673 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.47442808C>T, NC_000011.9:g.47464360C>T, NG_008312.2:g.11328G>A, NG_008312.1:g.11371G>A, NM_005055.5:c.538G>A, NM_005055.4:c.538G>A, NM_032645.5:c.538G>A, NM_032645.4:c.538G>A, XM_005253042.4:c.538G>A, XM_005253042.3:c.538G>A, XM_005253042.2:c.538G>A, XM_005253042.1:c.538G>A, XM_005253043.4:c.538G>A, XM_005253043.3:c.538G>A, XM_005253043.2:c.538G>A, XM_005253043.1:c.538G>A, XM_011520252.1:c.538G>A, NP_005046.2:p.Glu180Lys, NP_116034.2:p.Glu180Lys, XP_005253099.1:p.Glu180Lys, XP_005253100.1:p.Glu180Lys, XP_011518554.1:p.Glu180Lys

Select item 145232380217.

rs1452323802 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:47448938 (GRCh38)
11:47470490 (GRCh37)
Canonical SPDI:: NC_000011.10:47448937:C:T
Gene:: RAPSN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.47448938C>T, NC_000011.9:g.47470490C>T, NG_008312.2:g.5198G>A, NG_008312.1:g.5241G>A, NM_005055.5:c.27G>A, NM_005055.4:c.27G>A, NM_032645.5:c.27G>A, NM_032645.4:c.27G>A, XM_005253042.4:c.27G>A, XM_005253042.3:c.27G>A, XM_005253042.2:c.27G>A, XM_005253042.1:c.27G>A, XM_005253043.4:c.27G>A, XM_005253043.3:c.27G>A, XM_005253043.2:c.27G>A, XM_005253043.1:c.27G>A, XM_011520252.1:c.27G>A

Select item 144925002018.

rs1449250020 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 11:47438768 (GRCh38)
11:47460319 (GRCh37)
Canonical SPDI:: NC_000011.10:47438767:A:C,NC_000011.10:47438767:A:T
Gene:: RAPSN (Varview), LOC124902673 (Varview)
Functional Consequence:: intron_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.47438768A>C, NC_000011.10:g.47438768A>T, NC_000011.9:g.47460319A>C, NC_000011.9:g.47460319A>T, NG_008312.2:g.15368T>G, NG_008312.2:g.15368T>A, NG_008312.1:g.15412T>G, NG_008312.1:g.15412T>A, NM_005055.5:c.1130T>G, NM_005055.5:c.1130T>A, NM_005055.4:c.1130T>G, NM_005055.4:c.1130T>A, NM_032645.5:c.953T>G, NM_032645.5:c.953T>A, NM_032645.4:c.953T>G, NM_032645.4:c.953T>A, XM_005253042.4:c.1076T>G, XM_005253042.4:c.1076T>A, XM_005253042.3:c.1076T>G, XM_005253042.3:c.1076T>A, XM_005253042.2:c.1076T>G, XM_005253042.2:c.1076T>A, XM_005253042.1:c.1076T>G, XM_005253042.1:c.1076T>A, XM_005253043.4:c.1007T>G, XM_005253043.4:c.1007T>A, XM_005253043.3:c.1007T>G, XM_005253043.3:c.1007T>A, XM_005253043.2:c.1007T>G, XM_005253043.2:c.1007T>A, XM_005253043.1:c.1007T>G, XM_005253043.1:c.1007T>A, XM_011520252.1:c.1215T>G, XM_011520252.1:c.1215T>A, NP_005046.2:p.Leu377Arg, NP_005046.2:p.Leu377Gln, NP_116034.2:p.Leu318Arg, NP_116034.2:p.Leu318Gln, XP_005253099.1:p.Leu359Arg, XP_005253099.1:p.Leu359Gln, XP_005253100.1:p.Leu336Arg, XP_005253100.1:p.Leu336Gln

Select item 144791744519.

rs1447917445 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:47447837 (GRCh38)
11:47469389 (GRCh37)
Canonical SPDI:: NC_000011.10:47447836:A:G
Gene:: RAPSN (Varview), LOC124902673 (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.47447837A>G, NC_000011.9:g.47469389A>G, NG_008312.2:g.6299T>C, NG_008312.1:g.6342T>C, NM_005055.5:c.506T>C, NM_005055.4:c.506T>C, NM_032645.5:c.506T>C, NM_032645.4:c.506T>C, XM_005253042.4:c.506T>C, XM_005253042.3:c.506T>C, XM_005253042.2:c.506T>C, XM_005253042.1:c.506T>C, XM_005253043.4:c.506T>C, XM_005253043.3:c.506T>C, XM_005253043.2:c.506T>C, XM_005253043.1:c.506T>C, XM_011520252.1:c.506T>C, NP_005046.2:p.Leu169Pro, NP_116034.2:p.Leu169Pro, XP_005253099.1:p.Leu169Pro, XP_005253100.1:p.Leu169Pro, XP_011518554.1:p.Leu169Pro

Select item 144541207920.

rs1445412079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:47448896 (GRCh38)
11:47470448 (GRCh37)
Canonical SPDI:: NC_000011.10:47448895:C:A
Gene:: RAPSN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.47448896C>A, NC_000011.9:g.47470448C>A, NG_008312.2:g.5240G>T, NG_008312.1:g.5283G>T, NM_005055.5:c.69G>T, NM_005055.4:c.69G>T, NM_032645.5:c.69G>T, NM_032645.4:c.69G>T, XM_005253042.4:c.69G>T, XM_005253042.3:c.69G>T, XM_005253042.2:c.69G>T, XM_005253042.1:c.69G>T, XM_005253043.4:c.69G>T, XM_005253043.3:c.69G>T, XM_005253043.2:c.69G>T, XM_005253043.1:c.69G>T, XM_011520252.1:c.69G>T, NP_005046.2:p.Glu23Asp, NP_116034.2:p.Glu23Asp, XP_005253099.1:p.Glu23Asp, XP_005253100.1:p.Glu23Asp, XP_011518554.1:p.Glu23Asp

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