SNP Links for Protein (Select 4506189) - SNP

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Links from Protein

Items: 1 to 20 of 213

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Select item 14896400091.

rs1489640009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:62138289 (GRCh38)
20:60713345 (GRCh37)
Canonical SPDI:: NC_000020.11:62138288:G:C
Gene:: PSMA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.62138289G>C, NC_000020.10:g.60713345G>C, NG_046998.1:g.10170C>G, NM_002792.4:c.473C>G, NM_002792.3:c.473C>G, NM_152255.1:c.*57C>G, NP_002783.1:p.Ala158Gly

Select item 14836847412.

rs1483684741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62136915 (GRCh38)
20:60711971 (GRCh37)
Canonical SPDI:: NC_000020.11:62136914:G:A
Gene:: PSMA7 (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_000020.11:g.62136915G>A, NC_000020.10:g.60711971G>A, NG_046998.1:g.11544C>T, NM_002792.4:c.689C>T, NM_002792.3:c.689C>T, NM_152255.1:c.*273C>T, NP_002783.1:p.Ala230Val

Select item 14725225953.

rs1472522595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62143231 (GRCh38)
20:60718287 (GRCh37)
Canonical SPDI:: NC_000020.11:62143230:C:T
Gene:: PSMA7 (Varview), SS18L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000020.11:g.62143231C>T, NC_000020.10:g.60718287C>T, NG_034255.1:g.4512C>T, NG_046998.1:g.5228G>A, NM_002792.4:c.73G>A, NM_002792.3:c.73G>A, NM_152255.1:c.73G>A, NP_002783.1:p.Ala25Thr

Select item 14704932434.

rs1470493243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:62136940 (GRCh38)
20:60711996 (GRCh37)
Canonical SPDI:: NC_000020.11:62136939:G:A,NC_000020.11:62136939:G:C
Gene:: PSMA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.62136940G>A, NC_000020.11:g.62136940G>C, NC_000020.10:g.60711996G>A, NC_000020.10:g.60711996G>C, NG_046998.1:g.11519C>T, NG_046998.1:g.11519C>G, NM_002792.4:c.664C>T, NM_002792.4:c.664C>G, NM_002792.3:c.664C>T, NM_002792.3:c.664C>G, NM_152255.1:c.*248C>T, NM_152255.1:c.*248C>G, NP_002783.1:p.Pro222Ser, NP_002783.1:p.Pro222Ala

Select item 14630802985.

rs1463080298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62139102 (GRCh38)
20:60714158 (GRCh37)
Canonical SPDI:: NC_000020.11:62139101:G:A
Gene:: PSMA7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.62139102G>A, NC_000020.10:g.60714158G>A, NG_034255.1:g.383G>A, NG_046998.1:g.9357C>T, NM_002792.4:c.444C>T, NM_002792.3:c.444C>T, NM_152255.1:c.*28C>T

Select item 14606755366.

rs1460675536 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 20:62136895 (GRCh38)
20:60711951 (GRCh37)
Canonical SPDI:: NC_000020.11:62136889:TTCTTCTT:TTCTT
Gene:: PSMA7 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.62136892CTT[1], NC_000020.10:g.60711948CTT[1], NG_046998.1:g.11564GAA[1], NM_002792.4:c.709GAA[1], NM_002792.3:c.709GAA[1], NM_152255.1:c.*293GAA[1], NP_002783.1:p.Glu238del

Select item 14588557057.

rs1458855705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:62139872 (GRCh38)
20:60714928 (GRCh37)
Canonical SPDI:: NC_000020.11:62139871:C:A
Gene:: PSMA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.62139872C>A, NC_000020.10:g.60714928C>A, NG_034255.1:g.1153C>A, NG_046998.1:g.8587G>T, NM_002792.4:c.257G>T, NM_002792.3:c.257G>T, NM_152255.1:c.257G>T, NP_002783.1:p.Arg86Met

Select item 14584036758.

rs1458403675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62139804 (GRCh38)
20:60714860 (GRCh37)
Canonical SPDI:: NC_000020.11:62139803:G:A
Gene:: PSMA7 (Varview)
Functional Consequence:: missense_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)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000020.11:g.62139804G>A, NC_000020.10:g.60714860G>A, NG_034255.1:g.1085G>A, NG_046998.1:g.8655C>T, NM_002792.4:c.325C>T, NM_002792.3:c.325C>T, NM_152255.1:c.325C>T, NP_002783.1:p.Arg109Cys

Select item 14548380049.

rs1454838004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62139117 (GRCh38)
20:60714173 (GRCh37)
Canonical SPDI:: NC_000020.11:62139116:C:T
Gene:: PSMA7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.62139117C>T, NC_000020.10:g.60714173C>T, NG_034255.1:g.398C>T, NG_046998.1:g.9342G>A, NM_002792.4:c.429G>A, NM_002792.3:c.429G>A, NM_152255.1:c.*13G>A

Select item 145235054210.

rs1452350542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:62138267 (GRCh38)
20:60713323 (GRCh37)
Canonical SPDI:: NC_000020.11:62138266:G:C
Gene:: PSMA7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
HGVS:: NC_000020.11:g.62138267G>C, NC_000020.10:g.60713323G>C, NG_046998.1:g.10192C>G, NM_002792.4:c.495C>G, NM_002792.3:c.495C>G, NM_152255.1:c.*79C>G

Select item 144949113611.

rs1449491136 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:62139089 (GRCh38)
20:60714145 (GRCh37)
Canonical SPDI:: NC_000020.11:62139088:A:G
Gene:: PSMA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.62139089A>G, NC_000020.10:g.60714145A>G, NG_034255.1:g.370A>G, NG_046998.1:g.9370T>C, NM_002792.4:c.457T>C, NM_002792.3:c.457T>C, NM_152255.1:c.*41T>C, NP_002783.1:p.Tyr153His

Select item 144845865712.

rs1448458657 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGATGGCGCGGTCGTAGCTC [Show Flanks]
Chromosome:: 20:62143280 (GRCh38)
20:60718337 (GRCh37)
Canonical SPDI:: NC_000020.11:62143280:GTGATGGCGCGGTCGTAGCTC:GTGATGGCGCGGTCGTAGCTCGTGATGGCGCGGTCGTAGCTC
Gene:: PSMA7 (Varview), SS18L1 (Varview)
Functional Consequence:: inframe_insertion,upstream_transcript_variant,2KB_upstream_variant,initiator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGATGGCGCGGTCGTAGCTCGTGATGGCGCGGTCGTAGCTC=0./0 (ALFA)
GTGATGGCGCGGTCGTAGCTC=0.000004/1 (TOPMED)
GTGATGGCGCGGTCGTAGCTC=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62143281_62143301dup, NC_000020.10:g.60718337_60718357dup, NG_034255.1:g.4562_4582dup, NG_046998.1:g.5158_5178dup, NM_002792.4:c.3_23dup, NM_002792.3:c.3_23dup, NM_152255.1:c.3_23dup, NP_002783.1:p.Ser2_Thr8dup

Select item 144553921313.

rs1445539213 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:62136900 (GRCh38)
20:60711956 (GRCh37)
Canonical SPDI:: NC_000020.11:62136899:T:C
Gene:: PSMA7 (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_000020.11:g.62136900T>C, NC_000020.10:g.60711956T>C, NG_046998.1:g.11559A>G, NM_002792.4:c.704A>G, NM_002792.3:c.704A>G, NM_152255.1:c.*288A>G, NP_002783.1:p.Glu235Gly

Select item 144344923314.

rs1443449233 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 20:62138242 (GRCh38)
20:60713298 (GRCh37)
Canonical SPDI:: NC_000020.11:62138237:TTCTTCT:TTCT
Gene:: PSMA7 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.62138239TCT[1], NC_000020.10:g.60713295TCT[1], NG_046998.1:g.10216GAA[1], NM_002792.4:c.519GAA[1], NM_002792.3:c.519GAA[1], NM_152255.1:c.*103GAA[1], NP_002783.1:p.Lys174del

Select item 144191040915.

rs1441910409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:62138200 (GRCh38)
20:60713256 (GRCh37)
Canonical SPDI:: NC_000020.11:62138199:T:C
Gene:: PSMA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.62138200T>C, NC_000020.10:g.60713256T>C, NG_046998.1:g.10259A>G, NM_002792.4:c.562A>G, NM_002792.3:c.562A>G, NM_152255.1:c.*146A>G, NP_002783.1:p.Ile188Val

Select item 143759287116.

rs1437592871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:62137401 (GRCh38)
20:60712457 (GRCh37)
Canonical SPDI:: NC_000020.11:62137400:A:G
Gene:: PSMA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.62137401A>G, NC_000020.10:g.60712457A>G, NG_046998.1:g.11058T>C, NM_002792.4:c.617T>C, NM_002792.3:c.617T>C, NM_152255.1:c.*201T>C, NP_002783.1:p.Ile206Thr

Select item 142040307117.

rs1420403071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62140862 (GRCh38)
20:60715918 (GRCh37)
Canonical SPDI:: NC_000020.11:62140861:C:T
Gene:: PSMA7 (Varview)
Functional Consequence:: 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)
HGVS:: NC_000020.11:g.62140862C>T, NC_000020.10:g.60715918C>T, NG_034255.1:g.2143C>T, NG_046998.1:g.7597G>A, NM_002792.4:c.179G>A, NM_002792.3:c.179G>A, NM_152255.1:c.179G>A, NP_002783.1:p.Arg60Gln

Select item 141835099418.

rs1418350994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62139857 (GRCh38)
20:60714913 (GRCh37)
Canonical SPDI:: NC_000020.11:62139856:C:T
Gene:: PSMA7 (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62139857C>T, NC_000020.10:g.60714913C>T, NG_034255.1:g.1138C>T, NG_046998.1:g.8602G>A, NM_002792.4:c.272G>A, NM_002792.3:c.272G>A, NM_152255.1:c.272G>A, NP_002783.1:p.Cys91Tyr

Select item 141597257519.

rs1415972575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:62138237 (GRCh38)
20:60713293 (GRCh37)
Canonical SPDI:: NC_000020.11:62138236:G:A,NC_000020.11:62138236:G:C
Gene:: PSMA7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.62138237G>A, NC_000020.11:g.62138237G>C, NC_000020.10:g.60713293G>A, NC_000020.10:g.60713293G>C, NG_046998.1:g.10222C>T, NG_046998.1:g.10222C>G, NM_002792.4:c.525C>T, NM_002792.4:c.525C>G, NM_002792.3:c.525C>T, NM_002792.3:c.525C>G, NM_152255.1:c.*109C>T, NM_152255.1:c.*109C>G, NP_002783.1:p.Asn175Lys

Select item 141234230020.

rs1412342300 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:62139892 (GRCh38)
20:60714948 (GRCh37)
Canonical SPDI:: NC_000020.11:62139891:A:G
Gene:: PSMA7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62139892A>G, NC_000020.10:g.60714948A>G, NG_034255.1:g.1173A>G, NG_046998.1:g.8567T>C, NM_002792.4:c.237T>C, NM_002792.3:c.237T>C, NM_152255.1:c.237T>C

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