SNP Links for Protein (Select 767931977) - SNP

Select item 14893728231.

rs1489372823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:148435292 (GRCh38)
4:149356444 (GRCh37)
Canonical SPDI:: NC_000004.12:148435291:G:A
Gene:: NR3C2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_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_000004.12:g.148435292G>A, NC_000004.11:g.149356444G>A, NG_013350.2:g.15216C>T, NG_013350.1:g.12229C>T, NM_000901.5:c.1569C>T, NM_000901.4:c.1569C>T, NM_001166104.2:c.1569C>T, NM_001166104.1:c.1569C>T, NR_148974.2:n.1826C>T, NR_148974.1:n.1932C>T, NM_001354819.1:c.1569C>T, XM_011531978.3:c.1569C>T, XM_011531978.2:c.1569C>T, XM_011531978.1:c.1569C>T, XM_011531975.2:c.1569C>T, XM_011531975.1:c.1569C>T, XM_047415706.1:c.1569C>T, XM_047415708.1:c.1569C>T, XM_047415707.1:c.1569C>T, XM_047415709.1:c.1569C>T

Select item 14890019372.

rs1489001937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:148435186 (GRCh38)
4:149356338 (GRCh37)
Canonical SPDI:: NC_000004.12:148435185:A:G
Gene:: NR3C2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.148435186A>G, NC_000004.11:g.149356338A>G, NG_013350.2:g.15322T>C, NG_013350.1:g.12335T>C, NM_000901.5:c.1675T>C, NM_000901.4:c.1675T>C, NM_001166104.2:c.1675T>C, NM_001166104.1:c.1675T>C, NR_148974.2:n.1932T>C, NR_148974.1:n.2038T>C, NM_001354819.1:c.1675T>C, XM_011531978.3:c.1675T>C, XM_011531978.2:c.1675T>C, XM_011531978.1:c.1675T>C, XM_011531975.2:c.1675T>C, XM_011531975.1:c.1675T>C, XM_047415706.1:c.1675T>C, XM_047415708.1:c.1675T>C, XM_047415707.1:c.1675T>C, XM_047415709.1:c.1675T>C, NP_000892.2:p.Ser559Pro, NP_001159576.1:p.Ser559Pro, NP_001341748.1:p.Ser559Pro, XP_011530280.1:p.Ser559Pro, XP_011530277.1:p.Ser559Pro, XP_047271662.1:p.Ser559Pro, XP_047271664.1:p.Ser559Pro, XP_047271663.1:p.Ser559Pro, XP_047271665.1:p.Ser559Pro

Select item 14866427903.

rs1486642790 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:148435526 (GRCh38)
4:149356678 (GRCh37)
Canonical SPDI:: NC_000004.12:148435525:T:C
Gene:: NR3C2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.148435526T>C, NC_000004.11:g.149356678T>C, NG_013350.2:g.14982A>G, NG_013350.1:g.11995A>G, NM_000901.5:c.1335A>G, NM_000901.4:c.1335A>G, NM_001166104.2:c.1335A>G, NM_001166104.1:c.1335A>G, NR_148974.2:n.1592A>G, NR_148974.1:n.1698A>G, NM_001354819.1:c.1335A>G, XM_011531978.3:c.1335A>G, XM_011531978.2:c.1335A>G, XM_011531978.1:c.1335A>G, XM_011531975.2:c.1335A>G, XM_011531975.1:c.1335A>G, XM_047415706.1:c.1335A>G, XM_047415708.1:c.1335A>G, XM_047415707.1:c.1335A>G, XM_047415709.1:c.1335A>G

Select item 14854019064.

rs1485401906 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:148194848 (GRCh38)
4:149115999 (GRCh37)
Canonical SPDI:: NC_000004.12:148194847:A:G
Gene:: NR3C2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_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=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.148194848A>G, NC_000004.11:g.149115999A>G, NG_013350.2:g.255660T>C, NG_013350.1:g.252674T>C, NM_000901.5:c.1912T>C, NM_000901.4:c.1912T>C, NM_001166104.2:c.1912T>C, NM_001166104.1:c.1912T>C, NR_148974.2:n.2169T>C, NR_148974.1:n.2275T>C, NM_001354819.1:c.1912T>C, XM_011531978.3:c.1924T>C, XM_011531978.2:c.1924T>C, XM_011531978.1:c.1924T>C, XM_011531975.2:c.1924T>C, XM_011531975.1:c.1924T>C, XM_047415706.1:c.1912T>C, XM_047415708.1:c.1912T>C, XM_047415707.1:c.1912T>C, XM_047415709.1:c.1912T>C

Select item 14816666665.

rs1481666666 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:148436205 (GRCh38)
4:149357357 (GRCh37)
Canonical SPDI:: NC_000004.12:148436204:C:T
Gene:: NR3C2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.148436205C>T, NC_000004.11:g.149357357C>T, NG_013350.2:g.14303G>A, NG_013350.1:g.11316G>A, NM_000901.5:c.656G>A, NM_000901.4:c.656G>A, NM_001166104.2:c.656G>A, NM_001166104.1:c.656G>A, NR_148974.2:n.913G>A, NR_148974.1:n.1019G>A, NM_001354819.1:c.656G>A, XM_011531978.3:c.656G>A, XM_011531978.2:c.656G>A, XM_011531978.1:c.656G>A, XM_011531975.2:c.656G>A, XM_011531975.1:c.656G>A, XM_047415706.1:c.656G>A, XM_047415708.1:c.656G>A, XM_047415707.1:c.656G>A, XM_047415709.1:c.656G>A, NP_000892.2:p.Ser219Asn, NP_001159576.1:p.Ser219Asn, NP_001341748.1:p.Ser219Asn, XP_011530280.1:p.Ser219Asn, XP_011530277.1:p.Ser219Asn, XP_047271662.1:p.Ser219Asn, XP_047271664.1:p.Ser219Asn, XP_047271663.1:p.Ser219Asn, XP_047271665.1:p.Ser219Asn

Select item 14808752536.

rs1480875253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:148436622 (GRCh38)
4:149357774 (GRCh37)
Canonical SPDI:: NC_000004.12:148436621:C:G,NC_000004.12:148436621:C:T
Gene:: NR3C2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.148436622C>G, NC_000004.12:g.148436622C>T, NC_000004.11:g.149357774C>G, NC_000004.11:g.149357774C>T, NG_013350.2:g.13886G>C, NG_013350.2:g.13886G>A, NG_013350.1:g.10899G>C, NG_013350.1:g.10899G>A, NM_000901.5:c.239G>C, NM_000901.5:c.239G>A, NM_000901.4:c.239G>C, NM_000901.4:c.239G>A, NM_001166104.2:c.239G>C, NM_001166104.2:c.239G>A, NM_001166104.1:c.239G>C, NM_001166104.1:c.239G>A, NR_148974.2:n.496G>C, NR_148974.2:n.496G>A, NR_148974.1:n.602G>C, NR_148974.1:n.602G>A, NM_001354819.1:c.239G>C, NM_001354819.1:c.239G>A, XM_011531978.3:c.239G>C, XM_011531978.3:c.239G>A, XM_011531978.2:c.239G>C, XM_011531978.2:c.239G>A, XM_011531978.1:c.239G>C, XM_011531978.1:c.239G>A, XM_011531975.2:c.239G>C, XM_011531975.2:c.239G>A, XM_011531975.1:c.239G>C, XM_011531975.1:c.239G>A, XM_047415706.1:c.239G>C, XM_047415706.1:c.239G>A, XM_047415708.1:c.239G>C, XM_047415708.1:c.239G>A, XM_047415707.1:c.239G>C, XM_047415707.1:c.239G>A, XM_047415709.1:c.239G>C, XM_047415709.1:c.239G>A, NP_000892.2:p.Arg80Pro, NP_000892.2:p.Arg80Gln, NP_001159576.1:p.Arg80Pro, NP_001159576.1:p.Arg80Gln, NP_001341748.1:p.Arg80Pro, NP_001341748.1:p.Arg80Gln, XP_011530280.1:p.Arg80Pro, XP_011530280.1:p.Arg80Gln, XP_011530277.1:p.Arg80Pro, XP_011530277.1:p.Arg80Gln, XP_047271662.1:p.Arg80Pro, XP_047271662.1:p.Arg80Gln, XP_047271664.1:p.Arg80Pro, XP_047271664.1:p.Arg80Gln, XP_047271663.1:p.Arg80Pro, XP_047271663.1:p.Arg80Gln, XP_047271665.1:p.Arg80Pro, XP_047271665.1:p.Arg80Gln

Select item 14791499687.

rs1479149968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:148154798 (GRCh38)
4:149075949 (GRCh37)
Canonical SPDI:: NC_000004.12:148154797:T:G
Gene:: NR3C2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.148154798T>G, NC_000004.11:g.149075949T>G, NG_013350.2:g.295710A>C, NG_013350.1:g.292724A>C, NM_000901.5:c.2118A>C, NM_000901.4:c.2118A>C, XM_011531978.3:c.2130A>C, XM_011531978.2:c.2130A>C, XM_011531978.1:c.2130A>C, XM_011531975.2:c.2130A>C, XM_011531975.1:c.2130A>C, XM_047415706.1:c.2118A>C, XM_047415708.1:c.2118A>C, XM_047415707.1:c.2118A>C, XM_047415709.1:c.2118A>C, NP_000892.2:p.Glu706Asp, XP_011530280.1:p.Glu710Asp, XP_011530277.1:p.Glu710Asp, XP_047271662.1:p.Glu706Asp, XP_047271664.1:p.Glu706Asp, XP_047271663.1:p.Glu706Asp, XP_047271665.1:p.Glu706Asp

Select item 14777830228.

rs1477783022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:148436001 (GRCh38)
4:149357153 (GRCh37)
Canonical SPDI:: NC_000004.12:148436000:C:T
Gene:: NR3C2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000004.12:g.148436001C>T, NC_000004.11:g.149357153C>T, NG_013350.2:g.14507G>A, NG_013350.1:g.11520G>A, NM_000901.5:c.860G>A, NM_000901.4:c.860G>A, NM_001166104.2:c.860G>A, NM_001166104.1:c.860G>A, NR_148974.2:n.1117G>A, NR_148974.1:n.1223G>A, NM_001354819.1:c.860G>A, XM_011531978.3:c.860G>A, XM_011531978.2:c.860G>A, XM_011531978.1:c.860G>A, XM_011531975.2:c.860G>A, XM_011531975.1:c.860G>A, XM_047415706.1:c.860G>A, XM_047415708.1:c.860G>A, XM_047415707.1:c.860G>A, XM_047415709.1:c.860G>A, NP_000892.2:p.Ser287Asn, NP_001159576.1:p.Ser287Asn, NP_001341748.1:p.Ser287Asn, XP_011530280.1:p.Ser287Asn, XP_011530277.1:p.Ser287Asn, XP_047271662.1:p.Ser287Asn, XP_047271664.1:p.Ser287Asn, XP_047271663.1:p.Ser287Asn, XP_047271665.1:p.Ser287Asn

Select item 14770901629.

rs1477090162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:148435477 (GRCh38)
4:149356629 (GRCh37)
Canonical SPDI:: NC_000004.12:148435476:C:A
Gene:: NR3C2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.148435477C>A, NC_000004.11:g.149356629C>A, NG_013350.2:g.15031G>T, NG_013350.1:g.12044G>T, NM_000901.5:c.1384G>T, NM_000901.4:c.1384G>T, NM_001166104.2:c.1384G>T, NM_001166104.1:c.1384G>T, NR_148974.2:n.1641G>T, NR_148974.1:n.1747G>T, NM_001354819.1:c.1384G>T, XM_011531978.3:c.1384G>T, XM_011531978.2:c.1384G>T, XM_011531978.1:c.1384G>T, XM_011531975.2:c.1384G>T, XM_011531975.1:c.1384G>T, XM_047415706.1:c.1384G>T, XM_047415708.1:c.1384G>T, XM_047415707.1:c.1384G>T, XM_047415709.1:c.1384G>T, NP_000892.2:p.Asp462Tyr, NP_001159576.1:p.Asp462Tyr, NP_001341748.1:p.Asp462Tyr, XP_011530280.1:p.Asp462Tyr, XP_011530277.1:p.Asp462Tyr, XP_047271662.1:p.Asp462Tyr, XP_047271664.1:p.Asp462Tyr, XP_047271663.1:p.Asp462Tyr, XP_047271665.1:p.Asp462Tyr

Select item 147551647310.

rs1475516473 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:148436305 (GRCh38)
4:149357457 (GRCh37)
Canonical SPDI:: NC_000004.12:148436304:T:C
Gene:: NR3C2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.148436305T>C, NC_000004.11:g.149357457T>C, NG_013350.2:g.14203A>G, NG_013350.1:g.11216A>G, NM_000901.5:c.556A>G, NM_000901.4:c.556A>G, NM_001166104.2:c.556A>G, NM_001166104.1:c.556A>G, NR_148974.2:n.813A>G, NR_148974.1:n.919A>G, NM_001354819.1:c.556A>G, XM_011531978.3:c.556A>G, XM_011531978.2:c.556A>G, XM_011531978.1:c.556A>G, XM_011531975.2:c.556A>G, XM_011531975.1:c.556A>G, XM_047415706.1:c.556A>G, XM_047415708.1:c.556A>G, XM_047415707.1:c.556A>G, XM_047415709.1:c.556A>G, NP_000892.2:p.Met186Val, NP_001159576.1:p.Met186Val, NP_001341748.1:p.Met186Val, XP_011530280.1:p.Met186Val, XP_011530277.1:p.Met186Val, XP_047271662.1:p.Met186Val, XP_047271664.1:p.Met186Val, XP_047271663.1:p.Met186Val, XP_047271665.1:p.Met186Val

Select item 147304882511.

rs1473048825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:148435878 (GRCh38)
4:149357030 (GRCh37)
Canonical SPDI:: NC_000004.12:148435877:C:T
Gene:: NR3C2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000004.12:g.148435878C>T, NC_000004.11:g.149357030C>T, NG_013350.2:g.14630G>A, NG_013350.1:g.11643G>A, NM_000901.5:c.983G>A, NM_000901.4:c.983G>A, NM_001166104.2:c.983G>A, NM_001166104.1:c.983G>A, NR_148974.2:n.1240G>A, NR_148974.1:n.1346G>A, NM_001354819.1:c.983G>A, XM_011531978.3:c.983G>A, XM_011531978.2:c.983G>A, XM_011531978.1:c.983G>A, XM_011531975.2:c.983G>A, XM_011531975.1:c.983G>A, XM_047415706.1:c.983G>A, XM_047415708.1:c.983G>A, XM_047415707.1:c.983G>A, XM_047415709.1:c.983G>A, NP_000892.2:p.Ser328Asn, NP_001159576.1:p.Ser328Asn, NP_001341748.1:p.Ser328Asn, XP_011530280.1:p.Ser328Asn, XP_011530277.1:p.Ser328Asn, XP_047271662.1:p.Ser328Asn, XP_047271664.1:p.Ser328Asn, XP_047271663.1:p.Ser328Asn, XP_047271665.1:p.Ser328Asn

Select item 147199470912.

rs1471994709 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:148194762 (GRCh38)
4:149115913 (GRCh37)
Canonical SPDI:: NC_000004.12:148194761:A:C
Gene:: NR3C2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.148194762A>C, NC_000004.11:g.149115913A>C, NG_013350.2:g.255746T>G, NG_013350.1:g.252760T>G, NM_000901.5:c.1998T>G, NM_000901.4:c.1998T>G, NM_001166104.2:c.1998T>G, NM_001166104.1:c.1998T>G, NR_148974.2:n.2255T>G, NR_148974.1:n.2361T>G, NM_001354819.1:c.1998T>G, XM_011531978.3:c.2010T>G, XM_011531978.2:c.2010T>G, XM_011531978.1:c.2010T>G, XM_011531975.2:c.2010T>G, XM_011531975.1:c.2010T>G, XM_047415706.1:c.1998T>G, XM_047415708.1:c.1998T>G, XM_047415707.1:c.1998T>G, XM_047415709.1:c.1998T>G

Select item 147164855513.

rs1471648555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:148146741 (GRCh38)
4:149067892 (GRCh37)
Canonical SPDI:: NC_000004.12:148146740:T:C
Gene:: NR3C2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.148146741T>C, NC_000004.11:g.149067892T>C, NG_013350.2:g.303767A>G, NG_013350.1:g.300781A>G, XM_011531978.3:c.2539A>G, XM_011531978.2:c.2539A>G, XM_011531978.1:c.2539A>G, XM_047415709.1:c.2527A>G, XP_011530280.1:p.Arg847Gly, XP_047271665.1:p.Arg843Gly

Select item 147127466114.

rs1471274661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:148436148 (GRCh38)
4:149357300 (GRCh37)
Canonical SPDI:: NC_000004.12:148436147:G:A
Gene:: NR3C2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.148436148G>A, NC_000004.11:g.149357300G>A, NG_013350.2:g.14360C>T, NG_013350.1:g.11373C>T, NM_000901.5:c.713C>T, NM_000901.4:c.713C>T, NM_001166104.2:c.713C>T, NM_001166104.1:c.713C>T, NR_148974.2:n.970C>T, NR_148974.1:n.1076C>T, NM_001354819.1:c.713C>T, XM_011531978.3:c.713C>T, XM_011531978.2:c.713C>T, XM_011531978.1:c.713C>T, XM_011531975.2:c.713C>T, XM_011531975.1:c.713C>T, XM_047415706.1:c.713C>T, XM_047415708.1:c.713C>T, XM_047415707.1:c.713C>T, XM_047415709.1:c.713C>T, NP_000892.2:p.Ser238Phe, NP_001159576.1:p.Ser238Phe, NP_001341748.1:p.Ser238Phe, XP_011530280.1:p.Ser238Phe, XP_011530277.1:p.Ser238Phe, XP_047271662.1:p.Ser238Phe, XP_047271664.1:p.Ser238Phe, XP_047271663.1:p.Ser238Phe, XP_047271665.1:p.Ser238Phe

Select item 147029821315.

rs1470298213 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:148435802 (GRCh38)
4:149356954 (GRCh37)
Canonical SPDI:: NC_000004.12:148435801:A:G
Gene:: NR3C2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.148435802A>G, NC_000004.11:g.149356954A>G, NG_013350.2:g.14706T>C, NG_013350.1:g.11719T>C, NM_000901.5:c.1059T>C, NM_000901.4:c.1059T>C, NM_001166104.2:c.1059T>C, NM_001166104.1:c.1059T>C, NR_148974.2:n.1316T>C, NR_148974.1:n.1422T>C, NM_001354819.1:c.1059T>C, XM_011531978.3:c.1059T>C, XM_011531978.2:c.1059T>C, XM_011531978.1:c.1059T>C, XM_011531975.2:c.1059T>C, XM_011531975.1:c.1059T>C, XM_047415706.1:c.1059T>C, XM_047415708.1:c.1059T>C, XM_047415707.1:c.1059T>C, XM_047415709.1:c.1059T>C

Select item 146960239616.

rs1469602396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:148154720 (GRCh38)
4:149075871 (GRCh37)
Canonical SPDI:: NC_000004.12:148154719:T:A
Gene:: NR3C2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.148154720T>A, NC_000004.11:g.149075871T>A, NG_013350.2:g.295788A>T, NG_013350.1:g.292802A>T, NM_000901.5:c.2196A>T, NM_000901.4:c.2196A>T, XM_011531978.3:c.2208A>T, XM_011531978.2:c.2208A>T, XM_011531978.1:c.2208A>T, XM_011531975.2:c.2208A>T, XM_011531975.1:c.2208A>T, XM_047415706.1:c.2196A>T, XM_047415708.1:c.2196A>T, XM_047415707.1:c.2196A>T, XM_047415709.1:c.2196A>T

Select item 146756462117.

rs1467564621 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:148152594 (GRCh38)
4:149073745 (GRCh37)
Canonical SPDI:: NC_000004.12:148152593:A:G
Gene:: NR3C2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.148152594A>G, NC_000004.11:g.149073745A>G, NG_013350.2:g.297914T>C, NG_013350.1:g.294928T>C, NM_000901.5:c.2385T>C, NM_000901.4:c.2385T>C, NM_001166104.2:c.2034T>C, NM_001166104.1:c.2034T>C, NM_001354819.1:c.2034T>C, XM_011531978.3:c.2397T>C, XM_011531978.2:c.2397T>C, XM_011531978.1:c.2397T>C, XM_011531975.2:c.2397T>C, XM_011531975.1:c.2397T>C, XM_047415706.1:c.2385T>C, XM_047415708.1:c.2385T>C, XM_047415707.1:c.2385T>C, XM_047415709.1:c.2385T>C

Select item 146651467618.

rs1466514676 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:148435287 (GRCh38)
4:149356439 (GRCh37)
Canonical SPDI:: NC_000004.12:148435286:T:C
Gene:: NR3C2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.148435287T>C, NC_000004.11:g.149356439T>C, NG_013350.2:g.15221A>G, NG_013350.1:g.12234A>G, NM_000901.5:c.1574A>G, NM_000901.4:c.1574A>G, NM_001166104.2:c.1574A>G, NM_001166104.1:c.1574A>G, NR_148974.2:n.1831A>G, NR_148974.1:n.1937A>G, NM_001354819.1:c.1574A>G, XM_011531978.3:c.1574A>G, XM_011531978.2:c.1574A>G, XM_011531978.1:c.1574A>G, XM_011531975.2:c.1574A>G, XM_011531975.1:c.1574A>G, XM_047415706.1:c.1574A>G, XM_047415708.1:c.1574A>G, XM_047415707.1:c.1574A>G, XM_047415709.1:c.1574A>G, NP_000892.2:p.Tyr525Cys, NP_001159576.1:p.Tyr525Cys, NP_001341748.1:p.Tyr525Cys, XP_011530280.1:p.Tyr525Cys, XP_011530277.1:p.Tyr525Cys, XP_047271662.1:p.Tyr525Cys, XP_047271664.1:p.Tyr525Cys, XP_047271663.1:p.Tyr525Cys, XP_047271665.1:p.Tyr525Cys

Select item 146650388319.

rs1466503883 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:148436601 (GRCh38)
4:149357753 (GRCh37)
Canonical SPDI:: NC_000004.12:148436600:T:C
Gene:: NR3C2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.148436601T>C, NC_000004.11:g.149357753T>C, NG_013350.2:g.13907A>G, NG_013350.1:g.10920A>G, NM_000901.5:c.260A>G, NM_000901.4:c.260A>G, NM_001166104.2:c.260A>G, NM_001166104.1:c.260A>G, NR_148974.2:n.517A>G, NR_148974.1:n.623A>G, NM_001354819.1:c.260A>G, XM_011531978.3:c.260A>G, XM_011531978.2:c.260A>G, XM_011531978.1:c.260A>G, XM_011531975.2:c.260A>G, XM_011531975.1:c.260A>G, XM_047415706.1:c.260A>G, XM_047415708.1:c.260A>G, XM_047415707.1:c.260A>G, XM_047415709.1:c.260A>G, NP_000892.2:p.Asp87Gly, NP_001159576.1:p.Asp87Gly, NP_001341748.1:p.Asp87Gly, XP_011530280.1:p.Asp87Gly, XP_011530277.1:p.Asp87Gly, XP_047271662.1:p.Asp87Gly, XP_047271664.1:p.Asp87Gly, XP_047271663.1:p.Asp87Gly, XP_047271665.1:p.Asp87Gly

Select item 146457517820.

rs1464575178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:148435410 (GRCh38)
4:149356562 (GRCh37)
Canonical SPDI:: NC_000004.12:148435409:C:T
Gene:: NR3C2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.148435410C>T, NC_000004.11:g.149356562C>T, NG_013350.2:g.15098G>A, NG_013350.1:g.12111G>A, NM_000901.5:c.1451G>A, NM_000901.4:c.1451G>A, NM_001166104.2:c.1451G>A, NM_001166104.1:c.1451G>A, NR_148974.2:n.1708G>A, NR_148974.1:n.1814G>A, NM_001354819.1:c.1451G>A, XM_011531978.3:c.1451G>A, XM_011531978.2:c.1451G>A, XM_011531978.1:c.1451G>A, XM_011531975.2:c.1451G>A, XM_011531975.1:c.1451G>A, XM_047415706.1:c.1451G>A, XM_047415708.1:c.1451G>A, XM_047415707.1:c.1451G>A, XM_047415709.1:c.1451G>A, NP_000892.2:p.Cys484Tyr, NP_001159576.1:p.Cys484Tyr, NP_001341748.1:p.Cys484Tyr, XP_011530280.1:p.Cys484Tyr, XP_011530277.1:p.Cys484Tyr, XP_047271662.1:p.Cys484Tyr, XP_047271664.1:p.Cys484Tyr, XP_047271663.1:p.Cys484Tyr, XP_047271665.1:p.Cys484Tyr

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dbSNP

Result Filters

Clinical Significance

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Annotation

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Custom range

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Items: 1 to 20 of 754

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