SNP Links for Protein (Select 217330622) - SNP

Links from Protein

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Select item 14906501741.

rs1490650174 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:8887187 (GRCh38)
17:8790504 (GRCh37)
Canonical SPDI:: NC_000017.11:8887186:T:C,NC_000017.11:8887186:T:G
Gene:: PIK3R5 (Varview), LOC124903922 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8887187T>C, NC_000017.11:g.8887187T>G, NC_000017.10:g.8790504T>C, NC_000017.10:g.8790504T>G, NG_030374.1:g.83526A>G, NG_030374.1:g.83526A>C, NM_014308.4:c.1814A>G, NM_014308.4:c.1814A>C, NM_014308.3:c.1814A>G, NM_014308.3:c.1814A>C, NM_001142633.3:c.1814A>G, NM_001142633.3:c.1814A>C, NM_001142633.2:c.1814A>G, NM_001142633.2:c.1814A>C, NM_001251851.2:c.656A>G, NM_001251851.2:c.656A>C, NM_001251851.1:c.656A>G, NM_001251851.1:c.656A>C, NM_001251852.2:c.656A>G, NM_001251852.2:c.656A>C, NM_001251852.1:c.656A>G, NM_001251852.1:c.656A>C, NM_001251853.2:c.656A>G, NM_001251853.2:c.656A>C, NM_001251853.1:c.656A>G, NM_001251853.1:c.656A>C, NM_001251855.2:c.656A>G, NM_001251855.2:c.656A>C, NM_001251855.1:c.656A>G, NM_001251855.1:c.656A>C, NM_001388399.1:c.656A>G, NM_001388399.1:c.656A>C, NM_001388398.1:c.656A>G, NM_001388398.1:c.656A>C, NM_001388397.1:c.656A>G, NM_001388397.1:c.656A>C, NM_001388396.1:c.1814A>G, NM_001388396.1:c.1814A>C, NM_001388400.1:c.656A>G, NM_001388400.1:c.656A>C, XM_047435709.1:c.1814A>G, XM_047435709.1:c.1814A>C, XM_047435710.1:c.1798A>G, XM_047435710.1:c.1798A>C, XM_047435711.1:c.1798A>G, XM_047435711.1:c.1798A>C, NP_055123.2:p.Asn605Ser, NP_055123.2:p.Asn605Thr, NP_001136105.1:p.Asn605Ser, NP_001136105.1:p.Asn605Thr, NP_001238780.1:p.Asn219Ser, NP_001238780.1:p.Asn219Thr, NP_001238781.1:p.Asn219Ser, NP_001238781.1:p.Asn219Thr, NP_001238782.1:p.Asn219Ser, NP_001238782.1:p.Asn219Thr, NP_001238784.1:p.Asn219Ser, NP_001238784.1:p.Asn219Thr, NP_001375328.1:p.Asn219Ser, NP_001375328.1:p.Asn219Thr, NP_001375327.1:p.Asn219Ser, NP_001375327.1:p.Asn219Thr, NP_001375326.1:p.Asn219Ser, NP_001375326.1:p.Asn219Thr, NP_001375325.1:p.Asn605Ser, NP_001375325.1:p.Asn605Thr, NP_001375329.1:p.Asn219Ser, NP_001375329.1:p.Asn219Thr, XP_047291665.1:p.Asn605Ser, XP_047291665.1:p.Asn605Thr, XP_047291666.1:p.Met600Val, XP_047291666.1:p.Met600Leu, XP_047291667.1:p.Met600Val, XP_047291667.1:p.Met600Leu

Select item 14878959312.

rs1487895931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8888450 (GRCh38)
17:8791767 (GRCh37)
Canonical SPDI:: NC_000017.11:8888449:C:T
Gene:: PIK3R5 (Varview), LOC124903922 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000017.11:g.8888450C>T, NC_000017.10:g.8791767C>T, NG_030374.1:g.82263G>A, NM_014308.4:c.1337G>A, NM_014308.3:c.1337G>A, NM_001142633.3:c.1337G>A, NM_001142633.2:c.1337G>A, NM_001251851.2:c.179G>A, NM_001251851.1:c.179G>A, NM_001251852.2:c.179G>A, NM_001251852.1:c.179G>A, NM_001251853.2:c.179G>A, NM_001251853.1:c.179G>A, NM_001251855.2:c.179G>A, NM_001251855.1:c.179G>A, NM_001388399.1:c.179G>A, NM_001388398.1:c.179G>A, NM_001388397.1:c.179G>A, NM_001388396.1:c.1337G>A, NM_001388400.1:c.179G>A, XM_047435709.1:c.1337G>A, XM_047435710.1:c.1337G>A, XM_047435711.1:c.1337G>A, NP_055123.2:p.Ser446Asn, NP_001136105.1:p.Ser446Asn, NP_001238780.1:p.Ser60Asn, NP_001238781.1:p.Ser60Asn, NP_001238782.1:p.Ser60Asn, NP_001238784.1:p.Ser60Asn, NP_001375328.1:p.Ser60Asn, NP_001375327.1:p.Ser60Asn, NP_001375326.1:p.Ser60Asn, NP_001375325.1:p.Ser446Asn, NP_001375329.1:p.Ser60Asn, XP_047291665.1:p.Ser446Asn, XP_047291666.1:p.Ser446Asn, XP_047291667.1:p.Ser446Asn

Select item 14875894343.

rs1487589434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:8890745 (GRCh38)
17:8794062 (GRCh37)
Canonical SPDI:: NC_000017.11:8890744:C:A
Gene:: PIK3R5 (Varview), LOC124903922 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000017.11:g.8890745C>A, NC_000017.10:g.8794062C>A, NG_030374.1:g.79968G>T, NM_014308.4:c.650G>T, NM_014308.3:c.650G>T, NM_001142633.3:c.650G>T, NM_001142633.2:c.650G>T, NM_001251851.2:c.-571G>T, NM_001251851.1:c.-571G>T, NM_001251852.2:c.-509G>T, NM_001251852.1:c.-509G>T, NM_001251853.2:c.-355G>T, NM_001251853.1:c.-355G>T, NM_001388399.1:c.-509G>T, NM_001388398.1:c.-509G>T, NM_001388397.1:c.-509G>T, NM_001388396.1:c.650G>T, NM_001388400.1:c.-355G>T, XM_047435709.1:c.650G>T, XM_047435710.1:c.650G>T, XM_047435711.1:c.650G>T, NP_055123.2:p.Arg217Met, NP_001136105.1:p.Arg217Met, NP_001375325.1:p.Arg217Met, XP_047291665.1:p.Arg217Met, XP_047291666.1:p.Arg217Met, XP_047291667.1:p.Arg217Met

Select item 14867848214.

rs1486784821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8904877 (GRCh38)
17:8808194 (GRCh37)
Canonical SPDI:: NC_000017.11:8904876:C:T
Gene:: PIK3R5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8904877C>T, NC_000017.10:g.8808194C>T, NG_030374.1:g.65836G>A, NM_014308.4:c.312G>A, NM_014308.3:c.312G>A, NM_001142633.3:c.312G>A, NM_001142633.2:c.312G>A, NM_001251851.2:c.-909G>A, NM_001251851.1:c.-909G>A, NM_001251852.2:c.-847G>A, NM_001251852.1:c.-847G>A, NM_001251853.2:c.-693G>A, NM_001251853.1:c.-693G>A, NM_001251855.2:c.-672G>A, NM_001251855.1:c.-672G>A, NM_001388399.1:c.-847G>A, NM_001388398.1:c.-924G>A, NM_001388397.1:c.-845G>A, NM_001388396.1:c.312G>A, NM_001388400.1:c.-693G>A, XM_047435709.1:c.312G>A, XM_047435710.1:c.312G>A, XM_047435711.1:c.312G>A

Select item 14847580305.

rs1484758030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8904781 (GRCh38)
17:8808098 (GRCh37)
Canonical SPDI:: NC_000017.11:8904780:G:A
Gene:: PIK3R5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.8904781G>A, NC_000017.10:g.8808098G>A, NG_030374.1:g.65932C>T, NM_014308.4:c.408C>T, NM_014308.3:c.408C>T, NM_001142633.3:c.408C>T, NM_001142633.2:c.408C>T, NM_001251851.2:c.-813C>T, NM_001251851.1:c.-813C>T, NM_001251852.2:c.-751C>T, NM_001251852.1:c.-751C>T, NM_001251853.2:c.-597C>T, NM_001251853.1:c.-597C>T, NM_001251855.2:c.-576C>T, NM_001251855.1:c.-576C>T, NM_001388399.1:c.-751C>T, NM_001388398.1:c.-828C>T, NM_001388397.1:c.-749C>T, NM_001388396.1:c.408C>T, NM_001388400.1:c.-597C>T, XM_047435709.1:c.408C>T, XM_047435710.1:c.408C>T, XM_047435711.1:c.408C>T

Select item 14840325276.

rs1484032527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:8888524 (GRCh38)
17:8791841 (GRCh37)
Canonical SPDI:: NC_000017.11:8888523:G:T
Gene:: PIK3R5 (Varview), LOC124903922 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.8888524G>T, NC_000017.10:g.8791841G>T, NG_030374.1:g.82189C>A, NM_014308.4:c.1263C>A, NM_014308.3:c.1263C>A, NM_001142633.3:c.1263C>A, NM_001142633.2:c.1263C>A, NM_001251851.2:c.105C>A, NM_001251851.1:c.105C>A, NM_001251852.2:c.105C>A, NM_001251852.1:c.105C>A, NM_001251853.2:c.105C>A, NM_001251853.1:c.105C>A, NM_001251855.2:c.105C>A, NM_001251855.1:c.105C>A, NM_001388399.1:c.105C>A, NM_001388398.1:c.105C>A, NM_001388397.1:c.105C>A, NM_001388396.1:c.1263C>A, NM_001388400.1:c.105C>A, XM_047435709.1:c.1263C>A, XM_047435710.1:c.1263C>A, XM_047435711.1:c.1263C>A, NP_055123.2:p.Phe421Leu, NP_001136105.1:p.Phe421Leu, NP_001238780.1:p.Phe35Leu, NP_001238781.1:p.Phe35Leu, NP_001238782.1:p.Phe35Leu, NP_001238784.1:p.Phe35Leu, NP_001375328.1:p.Phe35Leu, NP_001375327.1:p.Phe35Leu, NP_001375326.1:p.Phe35Leu, NP_001375325.1:p.Phe421Leu, NP_001375329.1:p.Phe35Leu, XP_047291665.1:p.Phe421Leu, XP_047291666.1:p.Phe421Leu, XP_047291667.1:p.Phe421Leu

Select item 14834929427.

rs1483492942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8887545 (GRCh38)
17:8790862 (GRCh37)
Canonical SPDI:: NC_000017.11:8887544:G:A
Gene:: PIK3R5 (Varview), LOC124903922 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8887545G>A, NC_000017.10:g.8790862G>A, NG_030374.1:g.83168C>T, NM_014308.4:c.1755C>T, NM_014308.3:c.1755C>T, NM_001142633.3:c.1755C>T, NM_001142633.2:c.1755C>T, NM_001251851.2:c.597C>T, NM_001251851.1:c.597C>T, NM_001251852.2:c.597C>T, NM_001251852.1:c.597C>T, NM_001251853.2:c.597C>T, NM_001251853.1:c.597C>T, NM_001251855.2:c.597C>T, NM_001251855.1:c.597C>T, NM_001388399.1:c.597C>T, NM_001388398.1:c.597C>T, NM_001388397.1:c.597C>T, NM_001388396.1:c.1755C>T, NM_001388400.1:c.597C>T, XM_047435709.1:c.1755C>T, XM_047435710.1:c.1755C>T, XM_047435711.1:c.1755C>T

Select item 14826546118.

rs1482654611 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:8888657 (GRCh38)
17:8791974 (GRCh37)
Canonical SPDI:: NC_000017.11:8888656:G:T
Gene:: PIK3R5 (Varview), LOC124903922 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8888657G>T, NC_000017.10:g.8791974G>T, NG_030374.1:g.82056C>A, NM_014308.4:c.1130C>A, NM_014308.3:c.1130C>A, NM_001142633.3:c.1130C>A, NM_001142633.2:c.1130C>A, NM_001251851.2:c.-29C>A, NM_001251851.1:c.-29C>A, NM_001251852.2:c.-29C>A, NM_001251852.1:c.-29C>A, NM_001251853.2:c.-29C>A, NM_001251853.1:c.-29C>A, NM_001251855.2:c.-29C>A, NM_001251855.1:c.-29C>A, NM_001388399.1:c.-29C>A, NM_001388398.1:c.-29C>A, NM_001388397.1:c.-29C>A, NM_001388396.1:c.1130C>A, NM_001388400.1:c.-29C>A, XM_047435709.1:c.1130C>A, XM_047435710.1:c.1130C>A, XM_047435711.1:c.1130C>A, NP_055123.2:p.Thr377Asn, NP_001136105.1:p.Thr377Asn, NP_001375325.1:p.Thr377Asn, XP_047291665.1:p.Thr377Asn, XP_047291666.1:p.Thr377Asn, XP_047291667.1:p.Thr377Asn

Select item 14814968969.

rs1481496896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8886260 (GRCh38)
17:8789577 (GRCh37)
Canonical SPDI:: NC_000017.11:8886259:G:A
Gene:: PIK3R5 (Varview), LOC124903919 (Varview), LOC124903922 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8886260G>A, NC_000017.10:g.8789577G>A, NG_030374.1:g.84453C>T, NM_014308.4:c.2097C>T, NM_014308.3:c.2097C>T, NM_001142633.3:c.2097C>T, NM_001142633.2:c.2097C>T, NM_001251851.2:c.939C>T, NM_001251851.1:c.939C>T, NM_001251852.2:c.939C>T, NM_001251852.1:c.939C>T, NM_001251853.2:c.939C>T, NM_001251853.1:c.939C>T, NM_001251855.2:c.939C>T, NM_001251855.1:c.939C>T, NM_001388399.1:c.939C>T, NM_001388398.1:c.939C>T, NM_001388397.1:c.939C>T, NM_001388396.1:c.2094C>T, NM_001388400.1:c.936C>T, XM_047435709.1:c.2097C>T, XR_007065610.1:n.1584G>A

Select item 148123978610.

rs1481239786 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:8880781 (GRCh38)
17:8784098 (GRCh37)
Canonical SPDI:: NC_000017.11:8880780:T:C
Gene:: PIK3R5 (Varview), LOC124903919 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.8880781T>C, NC_000017.10:g.8784098T>C, NG_030374.1:g.89932A>G, NM_014308.4:c.2501A>G, NM_014308.3:c.2501A>G, NM_001142633.3:c.2501A>G, NM_001142633.2:c.2501A>G, NM_001251851.2:c.1343A>G, NM_001251851.1:c.1343A>G, NM_001251852.2:c.1343A>G, NM_001251852.1:c.1343A>G, NM_001251853.2:c.1343A>G, NM_001251853.1:c.1343A>G, NM_001251855.2:c.1343A>G, NM_001251855.1:c.1343A>G, NM_001388399.1:c.1343A>G, NM_001388398.1:c.1343A>G, NM_001388397.1:c.1343A>G, NM_001388396.1:c.2498A>G, NM_001388400.1:c.1340A>G, XM_047435709.1:c.2501A>G, NP_055123.2:p.Glu834Gly, NP_001136105.1:p.Glu834Gly, NP_001238780.1:p.Glu448Gly, NP_001238781.1:p.Glu448Gly, NP_001238782.1:p.Glu448Gly, NP_001238784.1:p.Glu448Gly, NP_001375328.1:p.Glu448Gly, NP_001375327.1:p.Glu448Gly, NP_001375326.1:p.Glu448Gly, NP_001375325.1:p.Glu833Gly, NP_001375329.1:p.Glu447Gly, XP_047291665.1:p.Glu834Gly

Select item 148071154811.

rs1480711548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:8889188 (GRCh38)
17:8792505 (GRCh37)
Canonical SPDI:: NC_000017.11:8889187:G:T
Gene:: PIK3R5 (Varview), LOC124903922 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8889188G>T, NC_000017.10:g.8792505G>T, NG_030374.1:g.81525C>A, NM_014308.4:c.846C>A, NM_014308.3:c.846C>A, NM_001142633.3:c.846C>A, NM_001142633.2:c.846C>A, NM_001251851.2:c.-375C>A, NM_001251851.1:c.-375C>A, NM_001251852.2:c.-313C>A, NM_001251852.1:c.-313C>A, NM_001251853.2:c.-313C>A, NM_001251853.1:c.-313C>A, NM_001251855.2:c.-313C>A, NM_001251855.1:c.-313C>A, NM_001388399.1:c.-313C>A, NM_001388398.1:c.-313C>A, NM_001388397.1:c.-313C>A, NM_001388396.1:c.846C>A, NM_001388400.1:c.-313C>A, XM_047435709.1:c.846C>A, XM_047435710.1:c.846C>A, XM_047435711.1:c.846C>A

Select item 148022243612.

rs1480222436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8888869 (GRCh38)
17:8792186 (GRCh37)
Canonical SPDI:: NC_000017.11:8888868:G:A
Gene:: PIK3R5 (Varview), LOC124903922 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8888869G>A, NC_000017.10:g.8792186G>A, NG_030374.1:g.81844C>T, NM_014308.4:c.918C>T, NM_014308.3:c.918C>T, NM_001142633.3:c.918C>T, NM_001142633.2:c.918C>T, NM_001251851.2:c.-241C>T, NM_001251851.1:c.-241C>T, NM_001251852.2:c.-241C>T, NM_001251852.1:c.-241C>T, NM_001251853.2:c.-241C>T, NM_001251853.1:c.-241C>T, NM_001251855.2:c.-241C>T, NM_001251855.1:c.-241C>T, NM_001388399.1:c.-241C>T, NM_001388398.1:c.-241C>T, NM_001388397.1:c.-241C>T, NM_001388396.1:c.918C>T, NM_001388400.1:c.-241C>T, XM_047435709.1:c.918C>T, XM_047435710.1:c.918C>T, XM_047435711.1:c.918C>T

Select item 147596046813.

rs1475960468 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:8890883 (GRCh38)
17:8794200 (GRCh37)
Canonical SPDI:: NC_000017.11:8890882:A:G
Gene:: PIK3R5 (Varview), LOC124903922 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8890883A>G, NC_000017.10:g.8794200A>G, NG_030374.1:g.79830T>C, NM_014308.4:c.512T>C, NM_014308.3:c.512T>C, NM_001142633.3:c.512T>C, NM_001142633.2:c.512T>C, NM_001251851.2:c.-709T>C, NM_001251851.1:c.-709T>C, NM_001251852.2:c.-647T>C, NM_001251852.1:c.-647T>C, NM_001251853.2:c.-493T>C, NM_001251853.1:c.-493T>C, NM_001388399.1:c.-647T>C, NM_001388398.1:c.-647T>C, NM_001388397.1:c.-647T>C, NM_001388396.1:c.512T>C, NM_001388400.1:c.-493T>C, XM_047435709.1:c.512T>C, XM_047435710.1:c.512T>C, XM_047435711.1:c.512T>C, NP_055123.2:p.Val171Ala, NP_001136105.1:p.Val171Ala, NP_001375325.1:p.Val171Ala, XP_047291665.1:p.Val171Ala, XP_047291666.1:p.Val171Ala, XP_047291667.1:p.Val171Ala

Select item 147563102314.

rs1475631023 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:8904796 (GRCh38)
17:8808113 (GRCh37)
Canonical SPDI:: NC_000017.11:8904795:A:G
Gene:: PIK3R5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.8904796A>G, NC_000017.10:g.8808113A>G, NG_030374.1:g.65917T>C, NM_014308.4:c.393T>C, NM_014308.3:c.393T>C, NM_001142633.3:c.393T>C, NM_001142633.2:c.393T>C, NM_001251851.2:c.-828T>C, NM_001251851.1:c.-828T>C, NM_001251852.2:c.-766T>C, NM_001251852.1:c.-766T>C, NM_001251853.2:c.-612T>C, NM_001251853.1:c.-612T>C, NM_001251855.2:c.-591T>C, NM_001251855.1:c.-591T>C, NM_001388399.1:c.-766T>C, NM_001388398.1:c.-843T>C, NM_001388397.1:c.-764T>C, NM_001388396.1:c.393T>C, NM_001388400.1:c.-612T>C, XM_047435709.1:c.393T>C, XM_047435710.1:c.393T>C, XM_047435711.1:c.393T>C

Select item 147560997915.

rs1475609979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8890044 (GRCh38)
17:8793361 (GRCh37)
Canonical SPDI:: NC_000017.11:8890043:G:A
Gene:: PIK3R5 (Varview), LOC124903922 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8890044G>A, NC_000017.10:g.8793361G>A, NG_030374.1:g.80669C>T, NM_014308.4:c.740C>T, NM_014308.3:c.740C>T, NM_001142633.3:c.740C>T, NM_001142633.2:c.740C>T, NM_001251851.2:c.-481C>T, NM_001251851.1:c.-481C>T, NM_001251852.2:c.-419C>T, NM_001251852.1:c.-419C>T, NM_001251855.2:c.-419C>T, NM_001251855.1:c.-419C>T, NM_001388399.1:c.-419C>T, NM_001388398.1:c.-419C>T, NM_001388397.1:c.-419C>T, NM_001388396.1:c.740C>T, XM_047435709.1:c.740C>T, XM_047435710.1:c.740C>T, XM_047435711.1:c.740C>T, NP_055123.2:p.Ala247Val, NP_001136105.1:p.Ala247Val, NP_001375325.1:p.Ala247Val, XP_047291665.1:p.Ala247Val, XP_047291666.1:p.Ala247Val, XP_047291667.1:p.Ala247Val

Select item 147366269916.

rs1473662699 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:8909133 (GRCh38)
17:8812450 (GRCh37)
Canonical SPDI:: NC_000017.11:8909132:T:C
Gene:: PIK3R5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8909133T>C, NC_000017.10:g.8812450T>C, NG_030374.1:g.61580A>G, NM_014308.4:c.145A>G, NM_014308.3:c.145A>G, NM_001142633.3:c.145A>G, NM_001142633.2:c.145A>G, NM_001251851.2:c.-1076A>G, NM_001251851.1:c.-1076A>G, NM_001251852.2:c.-1014A>G, NM_001251852.1:c.-1014A>G, NM_001251853.2:c.-860A>G, NM_001251853.1:c.-860A>G, NM_001251855.2:c.-839A>G, NM_001251855.1:c.-839A>G, NM_001388399.1:c.-1193A>G, NM_001388398.1:c.-1091A>G, NM_001388397.1:c.-1012A>G, NM_001388396.1:c.145A>G, NM_001388400.1:c.-860A>G, XM_047435709.1:c.145A>G, XM_047435710.1:c.145A>G, XM_047435711.1:c.145A>G, NP_055123.2:p.Ser49Gly, NP_001136105.1:p.Ser49Gly, NP_001375325.1:p.Ser49Gly, XP_047291665.1:p.Ser49Gly, XP_047291666.1:p.Ser49Gly, XP_047291667.1:p.Ser49Gly

Select item 147271836317.

rs1472718363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8888839 (GRCh38)
17:8792156 (GRCh37)
Canonical SPDI:: NC_000017.11:8888838:G:A
Gene:: PIK3R5 (Varview), LOC124903922 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000017.11:g.8888839G>A, NC_000017.10:g.8792156G>A, NG_030374.1:g.81874C>T, NM_014308.4:c.948C>T, NM_014308.3:c.948C>T, NM_001142633.3:c.948C>T, NM_001142633.2:c.948C>T, NM_001251851.2:c.-211C>T, NM_001251851.1:c.-211C>T, NM_001251852.2:c.-211C>T, NM_001251852.1:c.-211C>T, NM_001251853.2:c.-211C>T, NM_001251853.1:c.-211C>T, NM_001251855.2:c.-211C>T, NM_001251855.1:c.-211C>T, NM_001388399.1:c.-211C>T, NM_001388398.1:c.-211C>T, NM_001388397.1:c.-211C>T, NM_001388396.1:c.948C>T, NM_001388400.1:c.-211C>T, XM_047435709.1:c.948C>T, XM_047435710.1:c.948C>T, XM_047435711.1:c.948C>T

Select item 147259693818.

rs1472596938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:8881816 (GRCh38)
17:8785133 (GRCh37)
Canonical SPDI:: NC_000017.11:8881815:G:C,NC_000017.11:8881815:G:T
Gene:: PIK3R5 (Varview), LOC124903919 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00003/1 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000017.11:g.8881816G>C, NC_000017.11:g.8881816G>T, NC_000017.10:g.8785133G>C, NC_000017.10:g.8785133G>T, NG_030374.1:g.88897C>G, NG_030374.1:g.88897C>A, NM_014308.4:c.2271C>G, NM_014308.4:c.2271C>A, NM_014308.3:c.2271C>G, NM_014308.3:c.2271C>A, NM_001142633.3:c.2271C>G, NM_001142633.3:c.2271C>A, NM_001142633.2:c.2271C>G, NM_001142633.2:c.2271C>A, NM_001251851.2:c.1113C>G, NM_001251851.2:c.1113C>A, NM_001251851.1:c.1113C>G, NM_001251851.1:c.1113C>A, NM_001251852.2:c.1113C>G, NM_001251852.2:c.1113C>A, NM_001251852.1:c.1113C>G, NM_001251852.1:c.1113C>A, NM_001251853.2:c.1113C>G, NM_001251853.2:c.1113C>A, NM_001251853.1:c.1113C>G, NM_001251853.1:c.1113C>A, NM_001251855.2:c.1113C>G, NM_001251855.2:c.1113C>A, NM_001251855.1:c.1113C>G, NM_001251855.1:c.1113C>A, NM_001388399.1:c.1113C>G, NM_001388399.1:c.1113C>A, NM_001388398.1:c.1113C>G, NM_001388398.1:c.1113C>A, NM_001388397.1:c.1113C>G, NM_001388397.1:c.1113C>A, NM_001388396.1:c.2268C>G, NM_001388396.1:c.2268C>A, NM_001388400.1:c.1110C>G, NM_001388400.1:c.1110C>A, XM_047435709.1:c.2271C>G, XM_047435709.1:c.2271C>A, NP_055123.2:p.Asn757Lys, NP_055123.2:p.Asn757Lys, NP_001136105.1:p.Asn757Lys, NP_001136105.1:p.Asn757Lys, NP_001238780.1:p.Asn371Lys, NP_001238780.1:p.Asn371Lys, NP_001238781.1:p.Asn371Lys, NP_001238781.1:p.Asn371Lys, NP_001238782.1:p.Asn371Lys, NP_001238782.1:p.Asn371Lys, NP_001238784.1:p.Asn371Lys, NP_001238784.1:p.Asn371Lys, NP_001375328.1:p.Asn371Lys, NP_001375328.1:p.Asn371Lys, NP_001375327.1:p.Asn371Lys, NP_001375327.1:p.Asn371Lys, NP_001375326.1:p.Asn371Lys, NP_001375326.1:p.Asn371Lys, NP_001375325.1:p.Asn756Lys, NP_001375325.1:p.Asn756Lys, NP_001375329.1:p.Asn370Lys, NP_001375329.1:p.Asn370Lys, XP_047291665.1:p.Asn757Lys, XP_047291665.1:p.Asn757Lys

Select item 147220735019.

rs1472207350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:8880914 (GRCh38)
17:8784231 (GRCh37)
Canonical SPDI:: NC_000017.11:8880913:C:G,NC_000017.11:8880913:C:T
Gene:: PIK3R5 (Varview), LOC124903919 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.8880914C>G, NC_000017.11:g.8880914C>T, NC_000017.10:g.8784231C>G, NC_000017.10:g.8784231C>T, NG_030374.1:g.89799G>C, NG_030374.1:g.89799G>A, NM_014308.4:c.2486G>C, NM_014308.4:c.2486G>A, NM_014308.3:c.2486G>C, NM_014308.3:c.2486G>A, NM_001142633.3:c.2486G>C, NM_001142633.3:c.2486G>A, NM_001142633.2:c.2486G>C, NM_001142633.2:c.2486G>A, NM_001251851.2:c.1328G>C, NM_001251851.2:c.1328G>A, NM_001251851.1:c.1328G>C, NM_001251851.1:c.1328G>A, NM_001251852.2:c.1328G>C, NM_001251852.2:c.1328G>A, NM_001251852.1:c.1328G>C, NM_001251852.1:c.1328G>A, NM_001251853.2:c.1328G>C, NM_001251853.2:c.1328G>A, NM_001251853.1:c.1328G>C, NM_001251853.1:c.1328G>A, NM_001251855.2:c.1328G>C, NM_001251855.2:c.1328G>A, NM_001251855.1:c.1328G>C, NM_001251855.1:c.1328G>A, NM_001388399.1:c.1328G>C, NM_001388399.1:c.1328G>A, NM_001388398.1:c.1328G>C, NM_001388398.1:c.1328G>A, NM_001388397.1:c.1328G>C, NM_001388397.1:c.1328G>A, NM_001388396.1:c.2483G>C, NM_001388396.1:c.2483G>A, NM_001388400.1:c.1325G>C, NM_001388400.1:c.1325G>A, XM_047435709.1:c.2486G>C, XM_047435709.1:c.2486G>A, NP_055123.2:p.Ser829Thr, NP_055123.2:p.Ser829Asn, NP_001136105.1:p.Ser829Thr, NP_001136105.1:p.Ser829Asn, NP_001238780.1:p.Ser443Thr, NP_001238780.1:p.Ser443Asn, NP_001238781.1:p.Ser443Thr, NP_001238781.1:p.Ser443Asn, NP_001238782.1:p.Ser443Thr, NP_001238782.1:p.Ser443Asn, NP_001238784.1:p.Ser443Thr, NP_001238784.1:p.Ser443Asn, NP_001375328.1:p.Ser443Thr, NP_001375328.1:p.Ser443Asn, NP_001375327.1:p.Ser443Thr, NP_001375327.1:p.Ser443Asn, NP_001375326.1:p.Ser443Thr, NP_001375326.1:p.Ser443Asn, NP_001375325.1:p.Ser828Thr, NP_001375325.1:p.Ser828Asn, NP_001375329.1:p.Ser442Thr, NP_001375329.1:p.Ser442Asn, XP_047291665.1:p.Ser829Thr, XP_047291665.1:p.Ser829Asn

Select item 147141274020.

rs1471412740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:8886593 (GRCh38)
17:8789910 (GRCh37)
Canonical SPDI:: NC_000017.11:8886592:C:G
Gene:: PIK3R5 (Varview), LOC124903919 (Varview), LOC124903922 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,3_prime_UTR_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8886593C>G, NC_000017.10:g.8789910C>G, NG_030374.1:g.84120G>C, NM_014308.4:c.1918G>C, NM_014308.3:c.1918G>C, NM_001142633.3:c.1918G>C, NM_001142633.2:c.1918G>C, NM_001251851.2:c.760G>C, NM_001251851.1:c.760G>C, NM_001251852.2:c.760G>C, NM_001251852.1:c.760G>C, NM_001251853.2:c.760G>C, NM_001251853.1:c.760G>C, NM_001251855.2:c.760G>C, NM_001251855.1:c.760G>C, NM_001388399.1:c.760G>C, NM_001388398.1:c.760G>C, NM_001388397.1:c.760G>C, NM_001388396.1:c.1915G>C, NM_001388400.1:c.757G>C, XM_047435709.1:c.1918G>C, XM_047435710.1:c.*3G>C, XM_047435711.1:c.*3G>C, NP_055123.2:p.Ala640Pro, NP_001136105.1:p.Ala640Pro, NP_001238780.1:p.Ala254Pro, NP_001238781.1:p.Ala254Pro, NP_001238782.1:p.Ala254Pro, NP_001238784.1:p.Ala254Pro, NP_001375328.1:p.Ala254Pro, NP_001375327.1:p.Ala254Pro, NP_001375326.1:p.Ala254Pro, NP_001375325.1:p.Ala639Pro, NP_001375329.1:p.Ala253Pro, XP_047291665.1:p.Ala640Pro

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