SNP Links for Protein (Select 122937474) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 288

<< First< Prev

Page of 15

Next >Last >>

Select item 14905892001.

rs1490589200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:145872769 (GRCh38)
5:145252332 (GRCh37)
Canonical SPDI:: NC_000005.10:145872768:G:A
Gene:: GRXCR2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.145872769G>A, NC_000005.9:g.145252332G>A, NG_034161.2:g.5246C>T, NM_001080516.2:c.200C>T, NM_001080516.1:c.200C>T, NP_001073985.1:p.Ser67Phe

Select item 14864539052.

rs1486453905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:145866552 (GRCh38)
5:145246115 (GRCh37)
Canonical SPDI:: NC_000005.10:145866551:A:G
Gene:: GRXCR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.145866552A>G, NC_000005.9:g.145246115A>G, NG_034161.2:g.11463T>C, NM_001080516.2:c.513T>C, NM_001080516.1:c.513T>C, XM_017009708.2:c.225T>C, XM_017009708.1:c.225T>C

Select item 14830472463.

rs1483047246 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:145872909 (GRCh38)
5:145252472 (GRCh37)
Canonical SPDI:: NC_000005.10:145872908:T:A
Gene:: GRXCR2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.145872909T>A, NC_000005.9:g.145252472T>A, NG_034161.2:g.5106A>T, NM_001080516.2:c.60A>T, NM_001080516.1:c.60A>T

Select item 14822448794.

rs1482244879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:145866569 (GRCh38)
5:145246132 (GRCh37)
Canonical SPDI:: NC_000005.10:145866568:C:T
Gene:: GRXCR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000005.10:g.145866569C>T, NC_000005.9:g.145246132C>T, NG_034161.2:g.11446G>A, NM_001080516.2:c.496G>A, NM_001080516.1:c.496G>A, XM_017009708.2:c.208G>A, XM_017009708.1:c.208G>A, NP_001073985.1:p.Gly166Ser, XP_016865197.1:p.Gly70Ser

Select item 14811676415.

rs1481167641 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:145872818 (GRCh38)
5:145252381 (GRCh37)
Canonical SPDI:: NC_000005.10:145872817:G:C
Gene:: GRXCR2 (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 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.145872818G>C, NC_000005.9:g.145252381G>C, NG_034161.2:g.5197C>G, NM_001080516.2:c.151C>G, NM_001080516.1:c.151C>G, NP_001073985.1:p.His51Asp

Select item 14809698596.

rs1480969859 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:145872683 (GRCh38)
5:145252246 (GRCh37)
Canonical SPDI:: NC_000005.10:145872682:A:C
Gene:: GRXCR2 (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=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.145872683A>C, NC_000005.9:g.145252246A>C, NG_034161.2:g.5332T>G, NM_001080516.2:c.286T>G, NM_001080516.1:c.286T>G, NP_001073985.1:p.Leu96Val

Select item 14706216497.

rs1470621649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:145872642 (GRCh38)
5:145252205 (GRCh37)
Canonical SPDI:: NC_000005.10:145872641:A:G
Gene:: GRXCR2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.145872642A>G, NC_000005.9:g.145252205A>G, NG_034161.2:g.5373T>C, NM_001080516.2:c.327T>C, NM_001080516.1:c.327T>C

Select item 14703957918.

rs1470395791 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:145859758 (GRCh38)
5:145239321 (GRCh37)
Canonical SPDI:: NC_000005.10:145859757:T:C
Gene:: GRXCR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.145859758T>C, NC_000005.9:g.145239321T>C, NG_034161.2:g.18257A>G, NM_001080516.2:c.722A>G, NM_001080516.1:c.722A>G, XM_017009708.2:c.434A>G, XM_017009708.1:c.434A>G, NP_001073985.1:p.Gln241Arg, XP_016865197.1:p.Gln145Arg

Select item 14690977449.

rs1469097744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:145859875 (GRCh38)
5:145239438 (GRCh37)
Canonical SPDI:: NC_000005.10:145859874:C:T
Gene:: GRXCR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.145859875C>T, NC_000005.9:g.145239438C>T, NG_034161.2:g.18140G>A, NM_001080516.2:c.605G>A, NM_001080516.1:c.605G>A, XM_017009708.2:c.317G>A, XM_017009708.1:c.317G>A, NP_001073985.1:p.Gly202Glu, XP_016865197.1:p.Gly106Glu

Select item 146749133710.

rs1467491337 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:145872943 (GRCh38)
5:145252506 (GRCh37)
Canonical SPDI:: NC_000005.10:145872942:T:C,NC_000005.10:145872942:T:G
Gene:: GRXCR2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.145872943T>C, NC_000005.10:g.145872943T>G, NC_000005.9:g.145252506T>C, NC_000005.9:g.145252506T>G, NG_034161.2:g.5072A>G, NG_034161.2:g.5072A>C, NM_001080516.2:c.26A>G, NM_001080516.2:c.26A>C, NM_001080516.1:c.26A>G, NM_001080516.1:c.26A>C, NP_001073985.1:p.Asn9Ser, NP_001073985.1:p.Asn9Thr

Select item 146406034311.

rs1464060343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:145872880 (GRCh38)
5:145252443 (GRCh37)
Canonical SPDI:: NC_000005.10:145872879:C:A,NC_000005.10:145872879:C:T
Gene:: GRXCR2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.145872880C>A, NC_000005.10:g.145872880C>T, NC_000005.9:g.145252443C>A, NC_000005.9:g.145252443C>T, NG_034161.2:g.5135G>T, NG_034161.2:g.5135G>A, NM_001080516.2:c.89G>T, NM_001080516.2:c.89G>A, NM_001080516.1:c.89G>T, NM_001080516.1:c.89G>A, NP_001073985.1:p.Arg30Leu, NP_001073985.1:p.Arg30Gln

Select item 145579429812.

rs1455794298 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:145866719 (GRCh38)
5:145246282 (GRCh37)
Canonical SPDI:: NC_000005.10:145866718:T:A
Gene:: GRXCR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000005.10:g.145866719T>A, NC_000005.9:g.145246282T>A, NG_034161.2:g.11296A>T, NM_001080516.2:c.346A>T, NM_001080516.1:c.346A>T, XM_017009708.2:c.58A>T, XM_017009708.1:c.58A>T, NP_001073985.1:p.Ile116Phe, XP_016865197.1:p.Ile20Phe

Select item 145262873113.

rs1452628731 has merged into rs587777424 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:145859765 (GRCh38)
5:145239329 (GRCh37)
Canonical SPDI:: NC_000005.10:145859765:A:AA
Gene:: GRXCR2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Clinical significance:: pathogenic
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.145859766dup, NC_000005.9:g.145239329dup, NG_034161.2:g.18249dup, NM_001080516.2:c.714dup, NM_001080516.1:c.714dup, XM_017009708.2:c.426dup, XM_017009708.1:c.426dup, NP_001073985.1:p.Gly239fs, XP_016865197.1:p.Gly143fs

Select item 145140162514.

rs1451401625 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:145872778 (GRCh38)
5:145252341 (GRCh37)
Canonical SPDI:: NC_000005.10:145872777:A:T
Gene:: GRXCR2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.145872778A>T, NC_000005.9:g.145252341A>T, NG_034161.2:g.5237T>A, NM_001080516.2:c.191T>A, NM_001080516.1:c.191T>A, NP_001073985.1:p.Val64Asp

Select item 142524810315.

rs1425248103 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:145872925 (GRCh38)
5:145252488 (GRCh37)
Canonical SPDI:: NC_000005.10:145872924:T:G
Gene:: GRXCR2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.145872925T>G, NC_000005.9:g.145252488T>G, NG_034161.2:g.5090A>C, NM_001080516.2:c.44A>C, NM_001080516.1:c.44A>C, NP_001073985.1:p.Lys15Thr

Select item 142495925816.

rs1424959258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:145872790 (GRCh38)
5:145252353 (GRCh37)
Canonical SPDI:: NC_000005.10:145872789:G:T
Gene:: GRXCR2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.145872790G>T, NC_000005.9:g.145252353G>T, NG_034161.2:g.5225C>A, NM_001080516.2:c.179C>A, NM_001080516.1:c.179C>A, NP_001073985.1:p.Thr60Lys

Select item 142416532517.

rs1424165325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:145866654 (GRCh38)
5:145246217 (GRCh37)
Canonical SPDI:: NC_000005.10:145866653:G:C
Gene:: GRXCR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000005.10:g.145866654G>C, NC_000005.9:g.145246217G>C, NG_034161.2:g.11361C>G, NM_001080516.2:c.411C>G, NM_001080516.1:c.411C>G, XM_017009708.2:c.123C>G, XM_017009708.1:c.123C>G, NP_001073985.1:p.Asp137Glu, XP_016865197.1:p.Asp41Glu

Select item 142294968518.

rs1422949685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:145859793 (GRCh38)
5:145239356 (GRCh37)
Canonical SPDI:: NC_000005.10:145859792:G:A
Gene:: GRXCR2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00032/5 (TOMMO)
HGVS:: NC_000005.10:g.145859793G>A, NC_000005.9:g.145239356G>A, NG_034161.2:g.18222C>T, NM_001080516.2:c.687C>T, NM_001080516.1:c.687C>T, XM_017009708.2:c.399C>T, XM_017009708.1:c.399C>T

Select item 142100484619.

rs1421004846 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:145872740 (GRCh38)
5:145252303 (GRCh37)
Canonical SPDI:: NC_000005.10:145872739:A:C
Gene:: GRXCR2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.145872740A>C, NC_000005.9:g.145252303A>C, NG_034161.2:g.5275T>G, NM_001080516.2:c.229T>G, NM_001080516.1:c.229T>G, NP_001073985.1:p.Ser77Ala

Select item 141437088920.

rs1414370889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:145872691 (GRCh38)
5:145252254 (GRCh37)
Canonical SPDI:: NC_000005.10:145872690:G:T
Gene:: GRXCR2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.145872691G>T, NC_000005.9:g.145252254G>T, NG_034161.2:g.5324C>A, NM_001080516.2:c.278C>A, NM_001080516.1:c.278C>A, NP_001073985.1:p.Ala93Asp

<< First< Prev

Page of 15

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 122937474) (288)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: