SNP Links for Protein (Select 32307159) - SNP

Links from Protein

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Select item 14854394711.

rs1485439471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:30682003 (GRCh38)
7:30721619 (GRCh37)
Canonical SPDI:: NC_000007.14:30682002:G:C
Gene:: CRHR2 (Varview), LOC124901608 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.30682003G>C, NC_000007.13:g.30721619G>C, NG_029169.1:g.23101C>G, NM_001883.5:c.141C>G, NM_001883.4:c.141C>G, NM_001202483.2:c.141C>G, NM_001202483.1:c.141C>G, NM_001202482.2:c.141C>G, NM_001202482.1:c.141C>G, NM_001202481.1:c.99C>G, NM_001202475.1:c.222C>G, XM_047419892.1:c.141C>G, XM_047419893.1:c.141C>G, NP_001874.2:p.Ile47Met, NP_001189412.1:p.Ile47Met, NP_001189411.1:p.Ile47Met, NP_001189410.1:p.Ile33Met, NP_001189404.1:p.Ile74Met, XP_047275848.1:p.Ile47Met, XP_047275849.1:p.Ile47Met

Select item 14852209132.

rs1485220913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:30662828 (GRCh38)
7:30702444 (GRCh37)
Canonical SPDI:: NC_000007.14:30662827:G:T
Gene:: CRHR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.30662828G>T, NC_000007.13:g.30702444G>T, NG_029169.1:g.42276C>A, NM_001883.5:c.563C>A, NM_001883.4:c.563C>A, NM_001202483.2:c.563C>A, NM_001202483.1:c.563C>A, NM_001202482.2:c.560C>A, NM_001202482.1:c.560C>A, NM_001202481.1:c.521C>A, NM_001202475.1:c.644C>A, XM_047419892.1:c.563C>A, XM_047419893.1:c.563C>A, NP_001874.2:p.Thr188Asn, NP_001189412.1:p.Thr188Asn, NP_001189411.1:p.Thr187Asn, NP_001189410.1:p.Thr174Asn, NP_001189404.1:p.Thr215Asn, XP_047275848.1:p.Thr188Asn, XP_047275849.1:p.Thr188Asn

Select item 14838213893.

rs1483821389 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:30665623 (GRCh38)
7:30705239 (GRCh37)
Canonical SPDI:: NC_000007.14:30665622:A:G
Gene:: CRHR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.30665623A>G, NC_000007.13:g.30705239A>G, NG_029169.1:g.39481T>C, NM_001883.5:c.332T>C, NM_001883.4:c.332T>C, NM_001202483.2:c.332T>C, NM_001202483.1:c.332T>C, NM_001202482.2:c.329T>C, NM_001202482.1:c.329T>C, NM_001202481.1:c.290T>C, NM_001202475.1:c.413T>C, XM_047419892.1:c.332T>C, XM_047419893.1:c.332T>C, NP_001874.2:p.Leu111Pro, NP_001189412.1:p.Leu111Pro, NP_001189411.1:p.Leu110Pro, NP_001189410.1:p.Leu97Pro, NP_001189404.1:p.Leu138Pro, XP_047275848.1:p.Leu111Pro, XP_047275849.1:p.Leu111Pro

Select item 14834909944.

rs1483490994 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTG>- [Show Flanks]
Chromosome:: 7:30665143 (GRCh38)
7:30704759 (GRCh37)
Canonical SPDI:: NC_000007.14:30665138:GGTGGTG:GGTG
Gene:: CRHR2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGTG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.30665140GTG[1], NC_000007.13:g.30704756GTG[1], NG_029169.1:g.39960ACC[1], NM_001883.5:c.469ACC[1], NM_001883.4:c.469ACC[1], NM_001202483.2:c.469ACC[1], NM_001202483.1:c.469ACC[1], NM_001202482.2:c.466ACC[1], NM_001202482.1:c.466ACC[1], NM_001202481.1:c.427ACC[1], NM_001202475.1:c.550ACC[1], XM_047419892.1:c.469ACC[1], XM_047419893.1:c.469ACC[1], NP_001874.2:p.Thr158del, NP_001189412.1:p.Thr158del, NP_001189411.1:p.Thr157del, NP_001189410.1:p.Thr144del, NP_001189404.1:p.Thr185del, XP_047275848.1:p.Thr158del, XP_047275849.1:p.Thr158del

Select item 14831955765.

rs1483195576 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:30665569 (GRCh38)
7:30705185 (GRCh37)
Canonical SPDI:: NC_000007.14:30665568:G:A
Gene:: CRHR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.30665569G>A, NC_000007.13:g.30705185G>A, NG_029169.1:g.39535C>T, NM_001883.5:c.386C>T, NM_001883.4:c.386C>T, NM_001202483.2:c.386C>T, NM_001202483.1:c.386C>T, NM_001202482.2:c.383C>T, NM_001202482.1:c.383C>T, NM_001202481.1:c.344C>T, NM_001202475.1:c.467C>T, XM_047419892.1:c.386C>T, XM_047419893.1:c.386C>T, NP_001874.2:p.Ala129Val, NP_001189412.1:p.Ala129Val, NP_001189411.1:p.Ala128Val, NP_001189410.1:p.Ala115Val, NP_001189404.1:p.Ala156Val, XP_047275848.1:p.Ala129Val, XP_047275849.1:p.Ala129Val

Select item 14828321476.

rs1482832147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:30681931 (GRCh38)
7:30721547 (GRCh37)
Canonical SPDI:: NC_000007.14:30681930:G:A,NC_000007.14:30681930:G:T
Gene:: CRHR2 (Varview), LOC124901608 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.30681931G>A, NC_000007.14:g.30681931G>T, NC_000007.13:g.30721547G>A, NC_000007.13:g.30721547G>T, NG_029169.1:g.23173C>T, NG_029169.1:g.23173C>A, NM_001883.5:c.213C>T, NM_001883.5:c.213C>A, NM_001883.4:c.213C>T, NM_001883.4:c.213C>A, NM_001202483.2:c.213C>T, NM_001202483.2:c.213C>A, NM_001202483.1:c.213C>T, NM_001202483.1:c.213C>A, NM_001202482.2:c.213C>T, NM_001202482.2:c.213C>A, NM_001202482.1:c.213C>T, NM_001202482.1:c.213C>A, NM_001202481.1:c.171C>T, NM_001202481.1:c.171C>A, NM_001202475.1:c.294C>T, NM_001202475.1:c.294C>A, XM_047419892.1:c.213C>T, XM_047419892.1:c.213C>A, XM_047419893.1:c.213C>T, XM_047419893.1:c.213C>A

Select item 14816876267.

rs1481687626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:30653569 (GRCh38)
7:30693185 (GRCh37)
Canonical SPDI:: NC_000007.14:30653568:C:G,NC_000007.14:30653568:C:T
Gene:: CRHR2 (Varview), LOC124901609 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.30653569C>G, NC_000007.14:g.30653569C>T, NC_000007.13:g.30693185C>G, NC_000007.13:g.30693185C>T, NG_029169.1:g.51535G>C, NG_029169.1:g.51535G>A, NM_001883.5:c.1127G>C, NM_001883.5:c.1127G>A, NM_001883.4:c.1127G>C, NM_001883.4:c.1127G>A, NM_001202483.2:c.*74G>C, NM_001202483.2:c.*74G>A, NM_001202483.1:c.*74G>C, NM_001202483.1:c.*74G>A, NM_001202482.2:c.1124G>C, NM_001202482.2:c.1124G>A, NM_001202482.1:c.1124G>C, NM_001202482.1:c.1124G>A, NM_001202481.1:c.1085G>C, NM_001202481.1:c.1085G>A, NM_001202475.1:c.1208G>C, NM_001202475.1:c.1208G>A, NP_001874.2:p.Arg376Pro, NP_001874.2:p.Arg376His, NP_001189411.1:p.Arg375Pro, NP_001189411.1:p.Arg375His, NP_001189410.1:p.Arg362Pro, NP_001189410.1:p.Arg362His, NP_001189404.1:p.Arg403Pro, NP_001189404.1:p.Arg403His

Select item 14813481808.

rs1481348180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:30662738 (GRCh38)
7:30702354 (GRCh37)
Canonical SPDI:: NC_000007.14:30662737:G:A
Gene:: CRHR2 (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)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.30662738G>A, NC_000007.13:g.30702354G>A, NG_029169.1:g.42366C>T, NM_001883.5:c.653C>T, NM_001883.4:c.653C>T, NM_001202483.2:c.653C>T, NM_001202483.1:c.653C>T, NM_001202482.2:c.650C>T, NM_001202482.1:c.650C>T, NM_001202481.1:c.611C>T, NM_001202475.1:c.734C>T, XM_047419892.1:c.653C>T, XM_047419893.1:c.653C>T, NP_001874.2:p.Ser218Phe, NP_001189412.1:p.Ser218Phe, NP_001189411.1:p.Ser217Phe, NP_001189410.1:p.Ser204Phe, NP_001189404.1:p.Ser245Phe, XP_047275848.1:p.Ser218Phe, XP_047275849.1:p.Ser218Phe

Select item 14732651289.

rs1473265128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:30665585 (GRCh38)
7:30705201 (GRCh37)
Canonical SPDI:: NC_000007.14:30665584:G:A
Gene:: CRHR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.30665585G>A, NC_000007.13:g.30705201G>A, NG_029169.1:g.39519C>T, NM_001883.5:c.370C>T, NM_001883.4:c.370C>T, NM_001202483.2:c.370C>T, NM_001202483.1:c.370C>T, NM_001202482.2:c.367C>T, NM_001202482.1:c.367C>T, NM_001202481.1:c.328C>T, NM_001202475.1:c.451C>T, XM_047419892.1:c.370C>T, XM_047419893.1:c.370C>T, NP_001874.2:p.His124Tyr, NP_001189412.1:p.His124Tyr, NP_001189411.1:p.His123Tyr, NP_001189410.1:p.His110Tyr, NP_001189404.1:p.His151Tyr, XP_047275848.1:p.His124Tyr, XP_047275849.1:p.His124Tyr

Select item 147238371810.

rs1472383718 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 7:30667251 (GRCh38)
7:30706867 (GRCh37)
Canonical SPDI:: NC_000007.14:30667247:CACAC:CAC
Gene:: CRHR2 (Varview)
Functional Consequence:: inframe_indel,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: CAC=0./0 (ALFA)
HGVS:: NC_000007.14:g.30667249AC[1], NC_000007.13:g.30706865AC[1], NG_029169.1:g.37853TG[1], NM_001883.5:c.294_295del, NM_001883.4:c.294_295del, NM_001202483.2:c.294_295del, NM_001202483.1:c.294_295del, NM_001202482.2:c.294_295del, NM_001202482.1:c.294_295del, NM_001202481.1:c.252_253del, NM_001202475.1:c.375_376del, XM_047419892.1:c.294_295del, XM_047419893.1:c.294_295del, NP_001874.2:p.Cys98_Glu99delinsTer, NP_001189412.1:p.Cys98_Glu99delinsTer, NP_001189411.1:p.Cys98_Glu99delinsTer, NP_001189410.1:p.Cys84_Glu85delinsTer, NP_001189404.1:p.Cys125_Glu126delinsTer, XP_047275848.1:p.Cys98_Glu99delinsTer, XP_047275849.1:p.Cys98_Glu99delinsTer

Select item 146491633011.

rs1464916330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:30653510 (GRCh38)
7:30693126 (GRCh37)
Canonical SPDI:: NC_000007.14:30653509:A:G
Gene:: CRHR2 (Varview), LOC124901609 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.30653510A>G, NC_000007.13:g.30693126A>G, NG_029169.1:g.51594T>C, NM_001883.5:c.1186T>C, NM_001883.4:c.1186T>C, NM_001202483.2:c.*133T>C, NM_001202483.1:c.*133T>C, NM_001202482.2:c.1183T>C, NM_001202482.1:c.1183T>C, NM_001202481.1:c.1144T>C, NM_001202475.1:c.1267T>C, NP_001874.2:p.Ser396Pro, NP_001189411.1:p.Ser395Pro, NP_001189410.1:p.Ser382Pro, NP_001189404.1:p.Ser423Pro

Select item 146446047612.

rs1464460476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:30665598 (GRCh38)
7:30705214 (GRCh37)
Canonical SPDI:: NC_000007.14:30665597:G:T
Gene:: CRHR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000017/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.30665598G>T, NC_000007.13:g.30705214G>T, NG_029169.1:g.39506C>A, NM_001883.5:c.357C>A, NM_001883.4:c.357C>A, NM_001202483.2:c.357C>A, NM_001202483.1:c.357C>A, NM_001202482.2:c.354C>A, NM_001202482.1:c.354C>A, NM_001202481.1:c.315C>A, NM_001202475.1:c.438C>A, XM_047419892.1:c.357C>A, XM_047419893.1:c.357C>A

Select item 146431888513.

rs1464318885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:30682210 (GRCh38)
7:30721826 (GRCh37)
Canonical SPDI:: NC_000007.14:30682209:A:C,NC_000007.14:30682209:A:G
Gene:: CRHR2 (Varview), LOC124901608 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000071/1 (TOMMO)
HGVS:: NC_000007.14:g.30682210A>C, NC_000007.14:g.30682210A>G, NC_000007.13:g.30721826A>C, NC_000007.13:g.30721826A>G, NG_029169.1:g.22894T>G, NG_029169.1:g.22894T>C, NM_001883.5:c.71T>G, NM_001883.5:c.71T>C, NM_001883.4:c.71T>G, NM_001883.4:c.71T>C, NM_001202483.2:c.71T>G, NM_001202483.2:c.71T>C, NM_001202483.1:c.71T>G, NM_001202483.1:c.71T>C, NM_001202482.2:c.71T>G, NM_001202482.2:c.71T>C, NM_001202482.1:c.71T>G, NM_001202482.1:c.71T>C, XM_047419892.1:c.71T>G, XM_047419892.1:c.71T>C, XM_047419893.1:c.71T>G, XM_047419893.1:c.71T>C, NP_001874.2:p.Leu24Trp, NP_001874.2:p.Leu24Ser, NP_001189412.1:p.Leu24Trp, NP_001189412.1:p.Leu24Ser, NP_001189411.1:p.Leu24Trp, NP_001189411.1:p.Leu24Ser, XP_047275848.1:p.Leu24Trp, XP_047275848.1:p.Leu24Ser, XP_047275849.1:p.Leu24Trp, XP_047275849.1:p.Leu24Ser

Select item 146403045114.

rs1464030451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:30665079 (GRCh38)
7:30704695 (GRCh37)
Canonical SPDI:: NC_000007.14:30665078:C:T
Gene:: CRHR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.30665079C>T, NC_000007.13:g.30704695C>T, NG_029169.1:g.40025G>A, NM_001883.5:c.534G>A, NM_001883.4:c.534G>A, NM_001202483.2:c.534G>A, NM_001202483.1:c.534G>A, NM_001202482.2:c.531G>A, NM_001202482.1:c.531G>A, NM_001202481.1:c.492G>A, NM_001202475.1:c.615G>A, XM_047419892.1:c.534G>A, XM_047419893.1:c.534G>A

Select item 146181857715.

rs1461818577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:30653496 (GRCh38)
7:30693112 (GRCh37)
Canonical SPDI:: NC_000007.14:30653495:G:A
Gene:: CRHR2 (Varview), LOC124901609 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.30653496G>A, NC_000007.13:g.30693112G>A, NG_029169.1:g.51608C>T, NM_001883.5:c.1200C>T, NM_001883.4:c.1200C>T, NM_001202483.2:c.*147C>T, NM_001202483.1:c.*147C>T, NM_001202482.2:c.1197C>T, NM_001202482.1:c.1197C>T, NM_001202481.1:c.1158C>T, NM_001202475.1:c.1281C>T

Select item 146098121516.

rs1460981215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:30662216 (GRCh38)
7:30701832 (GRCh37)
Canonical SPDI:: NC_000007.14:30662215:C:A,NC_000007.14:30662215:C:T
Gene:: CRHR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.30662216C>A, NC_000007.14:g.30662216C>T, NC_000007.13:g.30701832C>A, NC_000007.13:g.30701832C>T, NG_029169.1:g.42888G>T, NG_029169.1:g.42888G>A, NM_001883.5:c.698G>T, NM_001883.5:c.698G>A, NM_001883.4:c.698G>T, NM_001883.4:c.698G>A, NM_001202483.2:c.698G>T, NM_001202483.2:c.698G>A, NM_001202483.1:c.698G>T, NM_001202483.1:c.698G>A, NM_001202482.2:c.695G>T, NM_001202482.2:c.695G>A, NM_001202482.1:c.695G>T, NM_001202482.1:c.695G>A, NM_001202481.1:c.656G>T, NM_001202481.1:c.656G>A, NM_001202475.1:c.779G>T, NM_001202475.1:c.779G>A, XM_047419892.1:c.698G>T, XM_047419892.1:c.698G>A, XM_047419893.1:c.698G>T, XM_047419893.1:c.698G>A, NP_001874.2:p.Cys233Phe, NP_001874.2:p.Cys233Tyr, NP_001189412.1:p.Cys233Phe, NP_001189412.1:p.Cys233Tyr, NP_001189411.1:p.Cys232Phe, NP_001189411.1:p.Cys232Tyr, NP_001189410.1:p.Cys219Phe, NP_001189410.1:p.Cys219Tyr, NP_001189404.1:p.Cys260Phe, NP_001189404.1:p.Cys260Tyr, XP_047275848.1:p.Cys233Phe, XP_047275848.1:p.Cys233Tyr, XP_047275849.1:p.Cys233Phe, XP_047275849.1:p.Cys233Tyr

Select item 145837215417.

rs1458372154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:30665536 (GRCh38)
7:30705152 (GRCh37)
Canonical SPDI:: NC_000007.14:30665535:G:A
Gene:: CRHR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.30665536G>A, NC_000007.13:g.30705152G>A, NG_029169.1:g.39568C>T, NM_001883.5:c.419C>T, NM_001883.4:c.419C>T, NM_001202483.2:c.419C>T, NM_001202483.1:c.419C>T, NM_001202482.2:c.416C>T, NM_001202482.1:c.416C>T, NM_001202481.1:c.377C>T, NM_001202475.1:c.500C>T, XM_047419892.1:c.419C>T, XM_047419893.1:c.419C>T, NP_001874.2:p.Ala140Val, NP_001189412.1:p.Ala140Val, NP_001189411.1:p.Ala139Val, NP_001189410.1:p.Ala126Val, NP_001189404.1:p.Ala167Val, XP_047275848.1:p.Ala140Val, XP_047275849.1:p.Ala140Val

Select item 145641581818.

rs1456415818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:30667244 (GRCh38)
7:30706860 (GRCh37)
Canonical SPDI:: NC_000007.14:30667243:G:A
Gene:: CRHR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.30667244G>A, NC_000007.13:g.30706860G>A, NG_029169.1:g.37860C>T, NM_001883.5:c.299C>T, NM_001883.4:c.299C>T, NM_001202483.2:c.299C>T, NM_001202483.1:c.299C>T, NM_001202482.2:c.299C>T, NM_001202482.1:c.299C>T, NM_001202481.1:c.257C>T, NM_001202475.1:c.380C>T, XM_047419892.1:c.299C>T, XM_047419893.1:c.299C>T, NP_001874.2:p.Pro100Leu, NP_001189412.1:p.Pro100Leu, NP_001189411.1:p.Pro100Leu, NP_001189410.1:p.Pro86Leu, NP_001189404.1:p.Pro127Leu, XP_047275848.1:p.Pro100Leu, XP_047275849.1:p.Pro100Leu

Select item 145346018519.

rs1453460185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:30682040 (GRCh38)
7:30721656 (GRCh37)
Canonical SPDI:: NC_000007.14:30682039:C:T
Gene:: CRHR2 (Varview), LOC124901608 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.30682040C>T, NC_000007.13:g.30721656C>T, NG_029169.1:g.23064G>A, NM_001883.5:c.104G>A, NM_001883.4:c.104G>A, NM_001202483.2:c.104G>A, NM_001202483.1:c.104G>A, NM_001202482.2:c.104G>A, NM_001202482.1:c.104G>A, NM_001202481.1:c.62G>A, NM_001202475.1:c.185G>A, XM_047419892.1:c.104G>A, XM_047419893.1:c.104G>A, NP_001874.2:p.Gly35Asp, NP_001189412.1:p.Gly35Asp, NP_001189411.1:p.Gly35Asp, NP_001189410.1:p.Gly21Asp, NP_001189404.1:p.Gly62Asp, XP_047275848.1:p.Gly35Asp, XP_047275849.1:p.Gly35Asp

Select item 145300011920.

rs1453000119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:30660639 (GRCh38)
7:30700255 (GRCh37)
Canonical SPDI:: NC_000007.14:30660638:C:T
Gene:: CRHR2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.30660639C>T, NC_000007.13:g.30700255C>T, NG_029169.1:g.44465G>A, NM_001883.5:c.765G>A, NM_001883.4:c.765G>A, NM_001202483.2:c.765G>A, NM_001202483.1:c.765G>A, NM_001202482.2:c.762G>A, NM_001202482.1:c.762G>A, NM_001202481.1:c.723G>A, NM_001202475.1:c.846G>A, XM_047419892.1:c.765G>A, XM_047419893.1:c.765G>A, NP_001874.2:p.Trp255Ter, NP_001189412.1:p.Trp255Ter, NP_001189411.1:p.Trp254Ter, NP_001189410.1:p.Trp241Ter, NP_001189404.1:p.Trp282Ter, XP_047275848.1:p.Trp255Ter, XP_047275849.1:p.Trp255Ter

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