SNP Links for Nucleotide (Select 589269247) - SNP - NCBI

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

Links from Nucleotide

Items: 1 to 20 of 1124

<< First< Prev

Page of 57

Select item 14898445301.

rs1489844530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:8835275 (GRCh38)
17:8738592 (GRCh37)
Canonical SPDI:: NC_000017.11:8835274:G:C,NC_000017.11:8835274:G:T
Gene:: PIK3R6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.8835275G>C, NC_000017.11:g.8835275G>T, NC_000017.10:g.8738592G>C, NC_000017.10:g.8738592G>T, NG_033091.1:g.37403C>G, NG_033091.1:g.37403C>A, NM_001010855.4:c.643C>G, NM_001010855.4:c.643C>A, NM_001010855.3:c.643C>G, NM_001010855.3:c.643C>A, NM_001010855.2:c.643C>G, NM_001010855.2:c.643C>A, NM_001290211.1:c.235C>G, NM_001290211.1:c.235C>A, NR_110865.1:n.1135C>G, NR_110865.1:n.1135C>A, XM_011523677.3:c.643C>G, XM_011523677.3:c.643C>A, XM_011523677.2:c.643C>G, XM_011523677.2:c.643C>A, XM_011523677.1:c.643C>G, XM_011523677.1:c.643C>A, XM_011523678.3:c.643C>G, XM_011523678.3:c.643C>A, XM_011523678.2:c.643C>G, XM_011523678.2:c.643C>A, XM_011523678.1:c.643C>G, XM_011523678.1:c.643C>A, XM_011523680.3:c.643C>G, XM_011523680.3:c.643C>A, XM_011523680.2:c.643C>G, XM_011523680.2:c.643C>A, XM_011523680.1:c.643C>G, XM_011523680.1:c.643C>A, XM_011523683.3:c.403C>G, XM_011523683.3:c.403C>A, XM_011523683.2:c.403C>G, XM_011523683.2:c.403C>A, XM_011523683.1:c.403C>G, XM_011523683.1:c.403C>A, XM_047435446.1:c.643C>G, XM_047435446.1:c.643C>A, XM_047435447.1:c.643C>G, XM_047435447.1:c.643C>A, XM_047435448.1:c.643C>G, XM_047435448.1:c.643C>A, XM_047435443.1:c.643C>G, XM_047435443.1:c.643C>A, XM_047435451.1:c.643C>G, XM_047435451.1:c.643C>A, XM_047435444.1:c.643C>G, XM_047435444.1:c.643C>A, XM_047435452.1:c.643C>G, XM_047435452.1:c.643C>A, XM_047435457.1:c.403C>G, XM_047435457.1:c.403C>A, XM_047435450.1:c.643C>G, XM_047435450.1:c.643C>A, XM_047435453.1:c.403C>G, XM_047435453.1:c.403C>A, XM_047435449.1:c.643C>G, XM_047435449.1:c.643C>A, XM_047435454.1:c.403C>G, XM_047435454.1:c.403C>A, XM_047435456.1:c.643C>G, XM_047435456.1:c.643C>A, XR_007065269.1:n.883C>G, XR_007065269.1:n.883C>A, XM_047435458.1:c.643C>G, XM_047435458.1:c.643C>A, NP_001010855.1:p.Gln215Glu, NP_001010855.1:p.Gln215Lys, NP_001277140.1:p.Gln79Glu, NP_001277140.1:p.Gln79Lys, XP_011521979.1:p.Gln215Glu, XP_011521979.1:p.Gln215Lys, XP_011521980.1:p.Gln215Glu, XP_011521980.1:p.Gln215Lys, XP_011521982.1:p.Gln215Glu, XP_011521982.1:p.Gln215Lys, XP_011521985.1:p.Gln135Glu, XP_011521985.1:p.Gln135Lys, XP_047291402.1:p.Gln215Glu, XP_047291402.1:p.Gln215Lys, XP_047291403.1:p.Gln215Glu, XP_047291403.1:p.Gln215Lys, XP_047291404.1:p.Gln215Glu, XP_047291404.1:p.Gln215Lys, XP_047291399.1:p.Gln215Glu, XP_047291399.1:p.Gln215Lys, XP_047291407.1:p.Gln215Glu, XP_047291407.1:p.Gln215Lys, XP_047291400.1:p.Gln215Glu, XP_047291400.1:p.Gln215Lys, XP_047291408.1:p.Gln215Glu, XP_047291408.1:p.Gln215Lys, XP_047291413.1:p.Gln135Glu, XP_047291413.1:p.Gln135Lys, XP_047291406.1:p.Gln215Glu, XP_047291406.1:p.Gln215Lys, XP_047291409.1:p.Gln135Glu, XP_047291409.1:p.Gln135Lys, XP_047291405.1:p.Gln215Glu, XP_047291405.1:p.Gln215Lys, XP_047291410.1:p.Gln135Glu, XP_047291410.1:p.Gln135Lys, XP_047291412.1:p.Gln215Glu, XP_047291412.1:p.Gln215Lys, XP_047291414.1:p.Gln215Glu, XP_047291414.1:p.Gln215Lys

Select item 14887005082.

rs1488700508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:8827176 (GRCh38)
17:8730493 (GRCh37)
Canonical SPDI:: NC_000017.11:8827175:T:C
Gene:: PIK3R6 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.8827176T>C, NC_000017.10:g.8730493T>C, NG_033091.1:g.45502A>G, NM_001010855.4:c.1511A>G, NM_001010855.3:c.1511A>G, NM_001010855.2:c.1511A>G, NM_001290211.1:c.1103A>G, NR_110865.1:n.1846A>G, XM_011523677.3:c.1508A>G, XM_011523677.2:c.1508A>G, XM_011523677.1:c.1508A>G, XM_011523678.3:c.1496A>G, XM_011523678.2:c.1496A>G, XM_011523678.1:c.1496A>G, XM_011523683.3:c.1271A>G, XM_011523683.2:c.1271A>G, XM_011523683.1:c.1271A>G, XM_011523686.3:c.644A>G, XM_011523686.2:c.644A>G, XM_011523686.1:c.644A>G, XM_047435446.1:c.1508A>G, XM_047435447.1:c.1496A>G, XM_047435448.1:c.1493A>G, XM_047435443.1:c.1511A>G, XM_047435444.1:c.1493A>G, XM_047435457.1:c.1271A>G, XM_047435453.1:c.1271A>G, XM_047435449.1:c.1511A>G, XM_047435454.1:c.1271A>G, XM_047435456.1:c.1511A>G, XR_007065269.1:n.1825A>G, NP_001010855.1:p.Glu504Gly, NP_001277140.1:p.Glu368Gly, XP_011521979.1:p.Glu503Gly, XP_011521980.1:p.Glu499Gly, XP_011521985.1:p.Glu424Gly, XP_011521988.1:p.Glu215Gly, XP_047291402.1:p.Glu503Gly, XP_047291403.1:p.Glu499Gly, XP_047291404.1:p.Glu498Gly, XP_047291399.1:p.Glu504Gly, XP_047291400.1:p.Glu498Gly, XP_047291413.1:p.Glu424Gly, XP_047291409.1:p.Glu424Gly, XP_047291405.1:p.Glu504Gly, XP_047291410.1:p.Glu424Gly, XP_047291412.1:p.Glu504Gly

Select item 14885910073.

rs1488591007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8849799 (GRCh38)
17:8753116 (GRCh37)
Canonical SPDI:: NC_000017.11:8849798:G:A
Gene:: PIK3R6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8849799G>A, NC_000017.10:g.8753116G>A, NG_033091.1:g.22879C>T, NM_001010855.4:c.-5C>T, NM_001010855.3:c.-5C>T, NM_001010855.2:c.-5C>T, NM_001290211.1:c.-781C>T, NR_110865.1:n.236C>T, XM_011523677.3:c.-5C>T, XM_011523677.2:c.-5C>T, XM_011523677.1:c.-5C>T, XM_011523678.3:c.-5C>T, XM_011523678.2:c.-5C>T, XM_011523678.1:c.-5C>T, XM_011523680.3:c.-5C>T, XM_011523680.2:c.-5C>T, XM_011523680.1:c.-5C>T, XM_047435446.1:c.-5C>T, XM_047435447.1:c.-5C>T, XM_047435448.1:c.-5C>T, XM_047435443.1:c.-5C>T, XM_047435451.1:c.-5C>T, XM_047435444.1:c.-5C>T, XM_047435452.1:c.-5C>T, XM_047435450.1:c.-5C>T, XM_047435449.1:c.-5C>T, XM_047435456.1:c.-5C>T, XR_007065269.1:n.236C>T, XM_047435458.1:c.-5C>T

Select item 14877585284.

rs1487758528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:8803411 (GRCh38)
17:8706729 (GRCh37)
Canonical SPDI:: NC_000017.11:8803410:G:T
Gene:: PIK3R6 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8803411G>T, NC_000017.10:g.8706729G>T, NG_033091.1:g.69267C>A, NM_001010855.4:c.2127C>A, NM_001010855.3:c.2127C>A, NM_001010855.2:c.2127C>A, NM_001290211.1:c.1719C>A, NR_110865.1:n.2603C>A, XM_011523677.3:c.2008C>A, XM_011523677.2:c.2008C>A, XM_011523677.1:c.2008C>A, XM_011523678.3:c.1996C>A, XM_011523678.2:c.1996C>A, XM_011523678.1:c.1996C>A, XM_011523680.3:c.1888C>A, XM_011523680.2:c.1888C>A, XM_011523680.1:c.1888C>A, XM_011523683.3:c.1771C>A, XM_011523683.2:c.1771C>A, XM_011523683.1:c.1771C>A, XM_011523686.3:c.1144C>A, XM_011523686.2:c.1144C>A, XM_011523686.1:c.1144C>A, XM_047435446.1:c.2124C>A, XM_047435447.1:c.2112C>A, XM_047435448.1:c.2109C>A, XM_047435443.1:c.2011C>A, XM_047435451.1:c.2004C>A, XM_047435444.1:c.1993C>A, XM_047435452.1:c.1989C>A, XM_047435457.1:c.1887C>A, XM_047435450.1:c.1873C>A, XM_047435453.1:c.1771C>A, XM_047435454.1:c.1771C>A, NP_001010855.1:p.Cys709Ter, NP_001277140.1:p.Cys573Ter, XP_011521979.1:p.Pro670Thr, XP_011521980.1:p.Pro666Thr, XP_011521982.1:p.Pro630Thr, XP_011521985.1:p.Pro591Thr, XP_011521988.1:p.Pro382Thr, XP_047291402.1:p.Cys708Ter, XP_047291403.1:p.Cys704Ter, XP_047291404.1:p.Cys703Ter, XP_047291399.1:p.Pro671Thr, XP_047291407.1:p.Cys668Ter, XP_047291400.1:p.Pro665Thr, XP_047291408.1:p.Cys663Ter, XP_047291413.1:p.Cys629Ter, XP_047291406.1:p.Pro625Thr, XP_047291409.1:p.Pro591Thr, XP_047291410.1:p.Pro591Thr

Select item 14875228135.

rs1487522813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:8803800 (GRCh38)
17:8707118 (GRCh37)
Canonical SPDI:: NC_000017.11:8803799:C:A
Gene:: PIK3R6 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.8803800C>A, NC_000017.10:g.8707118C>A, NG_033091.1:g.68878G>T, NR_110865.1:n.2446G>T, XM_047435449.1:c.2111G>T, XM_047435456.1:c.1995G>T, XP_047291405.1:p.Cys704Phe, XP_047291412.1:p.Met665Ile

Select item 14868145446.

rs1486814544 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:8828868 (GRCh38)
17:8732185 (GRCh37)
Canonical SPDI:: NC_000017.11:8828867:T:C,NC_000017.11:8828867:T:G
Gene:: PIK3R6 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8828868T>C, NC_000017.11:g.8828868T>G, NC_000017.10:g.8732185T>C, NC_000017.10:g.8732185T>G, NG_033091.1:g.43810A>G, NG_033091.1:g.43810A>C, NM_001010855.4:c.1012A>G, NM_001010855.4:c.1012A>C, NM_001010855.3:c.1012A>G, NM_001010855.3:c.1012A>C, NM_001010855.2:c.1012A>G, NM_001010855.2:c.1012A>C, NM_001290211.1:c.604A>G, NM_001290211.1:c.604A>C, NR_110865.1:n.1347A>G, NR_110865.1:n.1347A>C, XM_011523677.3:c.1012A>G, XM_011523677.3:c.1012A>C, XM_011523677.2:c.1012A>G, XM_011523677.2:c.1012A>C, XM_011523677.1:c.1012A>G, XM_011523677.1:c.1012A>C, XM_011523678.3:c.997A>G, XM_011523678.3:c.997A>C, XM_011523678.2:c.997A>G, XM_011523678.2:c.997A>C, XM_011523678.1:c.997A>G, XM_011523678.1:c.997A>C, XM_011523680.3:c.1012A>G, XM_011523680.3:c.1012A>C, XM_011523680.2:c.1012A>G, XM_011523680.2:c.1012A>C, XM_011523680.1:c.1012A>G, XM_011523680.1:c.1012A>C, XM_011523683.3:c.772A>G, XM_011523683.3:c.772A>C, XM_011523683.2:c.772A>G, XM_011523683.2:c.772A>C, XM_011523683.1:c.772A>G, XM_011523683.1:c.772A>C, XM_011523686.3:c.145A>G, XM_011523686.3:c.145A>C, XM_011523686.2:c.145A>G, XM_011523686.2:c.145A>C, XM_011523686.1:c.145A>G, XM_011523686.1:c.145A>C, XM_047435446.1:c.1012A>G, XM_047435446.1:c.1012A>C, XM_047435447.1:c.997A>G, XM_047435447.1:c.997A>C, XM_047435448.1:c.997A>G, XM_047435448.1:c.997A>C, XM_047435443.1:c.1012A>G, XM_047435443.1:c.1012A>C, XM_047435451.1:c.1012A>G, XM_047435451.1:c.1012A>C, XM_047435444.1:c.997A>G, XM_047435444.1:c.997A>C, XM_047435452.1:c.997A>G, XM_047435452.1:c.997A>C, XM_047435457.1:c.772A>G, XM_047435457.1:c.772A>C, XM_047435450.1:c.997A>G, XM_047435450.1:c.997A>C, XM_047435453.1:c.772A>G, XM_047435453.1:c.772A>C, XM_047435449.1:c.1012A>G, XM_047435449.1:c.1012A>C, XM_047435454.1:c.772A>G, XM_047435454.1:c.772A>C, XM_047435456.1:c.1012A>G, XM_047435456.1:c.1012A>C, XR_007065269.1:n.1252A>G, XR_007065269.1:n.1252A>C, XM_047435458.1:c.1044A>G, XM_047435458.1:c.1044A>C, NP_001010855.1:p.Thr338Ala, NP_001010855.1:p.Thr338Pro, NP_001277140.1:p.Thr202Ala, NP_001277140.1:p.Thr202Pro, XP_011521979.1:p.Thr338Ala, XP_011521979.1:p.Thr338Pro, XP_011521980.1:p.Thr333Ala, XP_011521980.1:p.Thr333Pro, XP_011521982.1:p.Thr338Ala, XP_011521982.1:p.Thr338Pro, XP_011521985.1:p.Thr258Ala, XP_011521985.1:p.Thr258Pro, XP_011521988.1:p.Thr49Ala, XP_011521988.1:p.Thr49Pro, XP_047291402.1:p.Thr338Ala, XP_047291402.1:p.Thr338Pro, XP_047291403.1:p.Thr333Ala, XP_047291403.1:p.Thr333Pro, XP_047291404.1:p.Thr333Ala, XP_047291404.1:p.Thr333Pro, XP_047291399.1:p.Thr338Ala, XP_047291399.1:p.Thr338Pro, XP_047291407.1:p.Thr338Ala, XP_047291407.1:p.Thr338Pro, XP_047291400.1:p.Thr333Ala, XP_047291400.1:p.Thr333Pro, XP_047291408.1:p.Thr333Ala, XP_047291408.1:p.Thr333Pro, XP_047291413.1:p.Thr258Ala, XP_047291413.1:p.Thr258Pro, XP_047291406.1:p.Thr333Ala, XP_047291406.1:p.Thr333Pro, XP_047291409.1:p.Thr258Ala, XP_047291409.1:p.Thr258Pro, XP_047291405.1:p.Thr338Ala, XP_047291405.1:p.Thr338Pro, XP_047291410.1:p.Thr258Ala, XP_047291410.1:p.Thr258Pro, XP_047291412.1:p.Thr338Ala, XP_047291412.1:p.Thr338Pro

Select item 14858437187.

rs1485843718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:8838472 (GRCh38)
17:8741789 (GRCh37)
Canonical SPDI:: NC_000017.11:8838471:T:C,NC_000017.11:8838471:T:G
Gene:: PIK3R6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000389/7 (TOMMO)
HGVS:: NC_000017.11:g.8838472T>C, NC_000017.11:g.8838472T>G, NC_000017.10:g.8741789T>C, NC_000017.10:g.8741789T>G, NG_033091.1:g.34206A>G, NG_033091.1:g.34206A>C, NM_001290211.1:c.-496A>G, NM_001290211.1:c.-496A>C, NR_110865.1:n.521A>G, NR_110865.1:n.521A>C, XM_047435457.1:c.-228A>G, XM_047435457.1:c.-228A>C, XM_047435453.1:c.-228A>G, XM_047435453.1:c.-228A>C

Select item 14835883038.

rs1483588303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8828907 (GRCh38)
17:8732224 (GRCh37)
Canonical SPDI:: NC_000017.11:8828906:G:A
Gene:: PIK3R6 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000016/3 (GnomAD_exomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.8828907G>A, NC_000017.10:g.8732224G>A, NG_033091.1:g.43771C>T, NM_001010855.4:c.973C>T, NM_001010855.3:c.973C>T, NM_001010855.2:c.973C>T, NM_001290211.1:c.565C>T, NR_110865.1:n.1308C>T, XM_011523677.3:c.973C>T, XM_011523677.2:c.973C>T, XM_011523677.1:c.973C>T, XM_011523678.3:c.958C>T, XM_011523678.2:c.958C>T, XM_011523678.1:c.958C>T, XM_011523680.3:c.973C>T, XM_011523680.2:c.973C>T, XM_011523680.1:c.973C>T, XM_011523683.3:c.733C>T, XM_011523683.2:c.733C>T, XM_011523683.1:c.733C>T, XM_011523686.3:c.106C>T, XM_011523686.2:c.106C>T, XM_011523686.1:c.106C>T, XM_047435446.1:c.973C>T, XM_047435447.1:c.958C>T, XM_047435448.1:c.958C>T, XM_047435443.1:c.973C>T, XM_047435451.1:c.973C>T, XM_047435444.1:c.958C>T, XM_047435452.1:c.958C>T, XM_047435457.1:c.733C>T, XM_047435450.1:c.958C>T, XM_047435453.1:c.733C>T, XM_047435449.1:c.973C>T, XM_047435454.1:c.733C>T, XM_047435456.1:c.973C>T, XR_007065269.1:n.1213C>T, XM_047435458.1:c.1005C>T, NP_001010855.1:p.Arg325Trp, NP_001277140.1:p.Arg189Trp, XP_011521979.1:p.Arg325Trp, XP_011521980.1:p.Arg320Trp, XP_011521982.1:p.Arg325Trp, XP_011521985.1:p.Arg245Trp, XP_011521988.1:p.Arg36Trp, XP_047291402.1:p.Arg325Trp, XP_047291403.1:p.Arg320Trp, XP_047291404.1:p.Arg320Trp, XP_047291399.1:p.Arg325Trp, XP_047291407.1:p.Arg325Trp, XP_047291400.1:p.Arg320Trp, XP_047291408.1:p.Arg320Trp, XP_047291413.1:p.Arg245Trp, XP_047291406.1:p.Arg320Trp, XP_047291409.1:p.Arg245Trp, XP_047291405.1:p.Arg325Trp, XP_047291410.1:p.Arg245Trp, XP_047291412.1:p.Arg325Trp

Select item 14834123349.

rs1483412334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:8828141 (GRCh38)
17:8731458 (GRCh37)
Canonical SPDI:: NC_000017.11:8828140:G:T
Gene:: PIK3R6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8828141G>T, NC_000017.10:g.8731458G>T, NG_033091.1:g.44537C>A, NM_001010855.4:c.1363C>A, NM_001010855.3:c.1363C>A, NM_001010855.2:c.1363C>A, NM_001290211.1:c.955C>A, NR_110865.1:n.1698C>A, XM_011523677.3:c.1363C>A, XM_011523677.2:c.1363C>A, XM_011523677.1:c.1363C>A, XM_011523678.3:c.1348C>A, XM_011523678.2:c.1348C>A, XM_011523678.1:c.1348C>A, XM_011523680.3:c.1363C>A, XM_011523680.2:c.1363C>A, XM_011523680.1:c.1363C>A, XM_011523683.3:c.1123C>A, XM_011523683.2:c.1123C>A, XM_011523683.1:c.1123C>A, XM_011523686.3:c.496C>A, XM_011523686.2:c.496C>A, XM_011523686.1:c.496C>A, XM_047435446.1:c.1363C>A, XM_047435447.1:c.1348C>A, XM_047435448.1:c.1348C>A, XM_047435443.1:c.1363C>A, XM_047435451.1:c.1363C>A, XM_047435444.1:c.1348C>A, XM_047435452.1:c.1348C>A, XM_047435457.1:c.1123C>A, XM_047435450.1:c.1348C>A, XM_047435453.1:c.1123C>A, XM_047435449.1:c.1363C>A, XM_047435454.1:c.1123C>A, XM_047435456.1:c.1363C>A, XR_007065269.1:n.1603C>A, NP_001010855.1:p.Leu455Ile, NP_001277140.1:p.Leu319Ile, XP_011521979.1:p.Leu455Ile, XP_011521980.1:p.Leu450Ile, XP_011521982.1:p.Leu455Ile, XP_011521985.1:p.Leu375Ile, XP_011521988.1:p.Leu166Ile, XP_047291402.1:p.Leu455Ile, XP_047291403.1:p.Leu450Ile, XP_047291404.1:p.Leu450Ile, XP_047291399.1:p.Leu455Ile, XP_047291407.1:p.Leu455Ile, XP_047291400.1:p.Leu450Ile, XP_047291408.1:p.Leu450Ile, XP_047291413.1:p.Leu375Ile, XP_047291406.1:p.Leu450Ile, XP_047291409.1:p.Leu375Ile, XP_047291405.1:p.Leu455Ile, XP_047291410.1:p.Leu375Ile, XP_047291412.1:p.Leu455Ile

Select item 148123914310.

rs1481239143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8836835 (GRCh38)
17:8740152 (GRCh37)
Canonical SPDI:: NC_000017.11:8836834:G:A
Gene:: PIK3R6 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.8836835G>A, NC_000017.10:g.8740152G>A, NG_033091.1:g.35843C>T, NM_001010855.4:c.347C>T, NM_001010855.3:c.347C>T, NM_001010855.2:c.347C>T, NM_001290211.1:c.-162C>T, NR_110865.1:n.839C>T, XM_011523677.3:c.347C>T, XM_011523677.2:c.347C>T, XM_011523677.1:c.347C>T, XM_011523678.3:c.347C>T, XM_011523678.2:c.347C>T, XM_011523678.1:c.347C>T, XM_011523680.3:c.347C>T, XM_011523680.2:c.347C>T, XM_011523680.1:c.347C>T, XM_011523683.3:c.107C>T, XM_011523683.2:c.107C>T, XM_011523683.1:c.107C>T, XM_047435446.1:c.347C>T, XM_047435447.1:c.347C>T, XM_047435448.1:c.347C>T, XM_047435443.1:c.347C>T, XM_047435451.1:c.347C>T, XM_047435444.1:c.347C>T, XM_047435452.1:c.347C>T, XM_047435457.1:c.107C>T, XM_047435450.1:c.347C>T, XM_047435453.1:c.107C>T, XM_047435449.1:c.347C>T, XM_047435454.1:c.107C>T, XM_047435456.1:c.347C>T, XR_007065269.1:n.587C>T, XM_047435458.1:c.347C>T, NP_001010855.1:p.Ala116Val, XP_011521979.1:p.Ala116Val, XP_011521980.1:p.Ala116Val, XP_011521982.1:p.Ala116Val, XP_011521985.1:p.Ala36Val, XP_047291402.1:p.Ala116Val, XP_047291403.1:p.Ala116Val, XP_047291404.1:p.Ala116Val, XP_047291399.1:p.Ala116Val, XP_047291407.1:p.Ala116Val, XP_047291400.1:p.Ala116Val, XP_047291408.1:p.Ala116Val, XP_047291413.1:p.Ala36Val, XP_047291406.1:p.Ala116Val, XP_047291409.1:p.Ala36Val, XP_047291405.1:p.Ala116Val, XP_047291410.1:p.Ala36Val, XP_047291412.1:p.Ala116Val, XP_047291414.1:p.Ala116Val

Select item 148106496311.

rs1481064963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:8827211 (GRCh38)
17:8730528 (GRCh37)
Canonical SPDI:: NC_000017.11:8827210:G:T
Gene:: PIK3R6 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000132/2 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000017.11:g.8827211G>T, NC_000017.10:g.8730528G>T, NG_033091.1:g.45467C>A, NM_001010855.4:c.1476C>A, NM_001010855.3:c.1476C>A, NM_001010855.2:c.1476C>A, NM_001290211.1:c.1068C>A, NR_110865.1:n.1811C>A, XM_011523677.3:c.1473C>A, XM_011523677.2:c.1473C>A, XM_011523677.1:c.1473C>A, XM_011523678.3:c.1461C>A, XM_011523678.2:c.1461C>A, XM_011523678.1:c.1461C>A, XM_011523683.3:c.1236C>A, XM_011523683.2:c.1236C>A, XM_011523683.1:c.1236C>A, XM_011523686.3:c.609C>A, XM_011523686.2:c.609C>A, XM_011523686.1:c.609C>A, XM_047435446.1:c.1473C>A, XM_047435447.1:c.1461C>A, XM_047435448.1:c.1458C>A, XM_047435443.1:c.1476C>A, XM_047435444.1:c.1458C>A, XM_047435457.1:c.1236C>A, XM_047435453.1:c.1236C>A, XM_047435449.1:c.1476C>A, XM_047435454.1:c.1236C>A, XM_047435456.1:c.1476C>A, XR_007065269.1:n.1790C>A

Select item 148047236912.

rs1480472369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:8803422 (GRCh38)
17:8706740 (GRCh37)
Canonical SPDI:: NC_000017.11:8803421:C:A,NC_000017.11:8803421:C:T
Gene:: PIK3R6 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.8803422C>A, NC_000017.11:g.8803422C>T, NC_000017.10:g.8706740C>A, NC_000017.10:g.8706740C>T, NG_033091.1:g.69256G>T, NG_033091.1:g.69256G>A, NM_001010855.4:c.2116G>T, NM_001010855.4:c.2116G>A, NM_001010855.3:c.2116G>T, NM_001010855.3:c.2116G>A, NM_001010855.2:c.2116G>T, NM_001010855.2:c.2116G>A, NM_001290211.1:c.1708G>T, NM_001290211.1:c.1708G>A, NR_110865.1:n.2592G>T, NR_110865.1:n.2592G>A, XM_011523677.3:c.1997G>T, XM_011523677.3:c.1997G>A, XM_011523677.2:c.1997G>T, XM_011523677.2:c.1997G>A, XM_011523677.1:c.1997G>T, XM_011523677.1:c.1997G>A, XM_011523678.3:c.1985G>T, XM_011523678.3:c.1985G>A, XM_011523678.2:c.1985G>T, XM_011523678.2:c.1985G>A, XM_011523678.1:c.1985G>T, XM_011523678.1:c.1985G>A, XM_011523680.3:c.1877G>T, XM_011523680.3:c.1877G>A, XM_011523680.2:c.1877G>T, XM_011523680.2:c.1877G>A, XM_011523680.1:c.1877G>T, XM_011523680.1:c.1877G>A, XM_011523683.3:c.1760G>T, XM_011523683.3:c.1760G>A, XM_011523683.2:c.1760G>T, XM_011523683.2:c.1760G>A, XM_011523683.1:c.1760G>T, XM_011523683.1:c.1760G>A, XM_011523686.3:c.1133G>T, XM_011523686.3:c.1133G>A, XM_011523686.2:c.1133G>T, XM_011523686.2:c.1133G>A, XM_011523686.1:c.1133G>T, XM_011523686.1:c.1133G>A, XM_047435446.1:c.2113G>T, XM_047435446.1:c.2113G>A, XM_047435447.1:c.2101G>T, XM_047435447.1:c.2101G>A, XM_047435448.1:c.2098G>T, XM_047435448.1:c.2098G>A, XM_047435443.1:c.2000G>T, XM_047435443.1:c.2000G>A, XM_047435451.1:c.1993G>T, XM_047435451.1:c.1993G>A, XM_047435444.1:c.1982G>T, XM_047435444.1:c.1982G>A, XM_047435452.1:c.1978G>T, XM_047435452.1:c.1978G>A, XM_047435457.1:c.1876G>T, XM_047435457.1:c.1876G>A, XM_047435450.1:c.1862G>T, XM_047435450.1:c.1862G>A, XM_047435453.1:c.1760G>T, XM_047435453.1:c.1760G>A, XM_047435454.1:c.1760G>T, XM_047435454.1:c.1760G>A, NP_001010855.1:p.Val706Phe, NP_001010855.1:p.Val706Ile, NP_001277140.1:p.Val570Phe, NP_001277140.1:p.Val570Ile, XP_011521979.1:p.Gly666Val, XP_011521979.1:p.Gly666Asp, XP_011521980.1:p.Gly662Val, XP_011521980.1:p.Gly662Asp, XP_011521982.1:p.Gly626Val, XP_011521982.1:p.Gly626Asp, XP_011521985.1:p.Gly587Val, XP_011521985.1:p.Gly587Asp, XP_011521988.1:p.Gly378Val, XP_011521988.1:p.Gly378Asp, XP_047291402.1:p.Val705Phe, XP_047291402.1:p.Val705Ile, XP_047291403.1:p.Val701Phe, XP_047291403.1:p.Val701Ile, XP_047291404.1:p.Val700Phe, XP_047291404.1:p.Val700Ile, XP_047291399.1:p.Gly667Val, XP_047291399.1:p.Gly667Asp, XP_047291407.1:p.Val665Phe, XP_047291407.1:p.Val665Ile, XP_047291400.1:p.Gly661Val, XP_047291400.1:p.Gly661Asp, XP_047291408.1:p.Val660Phe, XP_047291408.1:p.Val660Ile, XP_047291413.1:p.Val626Phe, XP_047291413.1:p.Val626Ile, XP_047291406.1:p.Gly621Val, XP_047291406.1:p.Gly621Asp, XP_047291409.1:p.Gly587Val, XP_047291409.1:p.Gly587Asp, XP_047291410.1:p.Gly587Val, XP_047291410.1:p.Gly587Asp

Select item 147878967213.

rs1478789672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:8849882 (GRCh38)
17:8753199 (GRCh37)
Canonical SPDI:: NC_000017.11:8849881:G:T
Gene:: PIK3R6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8849882G>T, NC_000017.10:g.8753199G>T, NG_033091.1:g.22796C>A, NM_001010855.4:c.-88C>A, NM_001010855.3:c.-88C>A, NM_001010855.2:c.-88C>A, NM_001290211.1:c.-864C>A, NR_110865.1:n.153C>A, XM_011523677.3:c.-88C>A, XM_011523677.2:c.-88C>A, XM_011523677.1:c.-88C>A, XM_011523678.3:c.-88C>A, XM_011523678.2:c.-88C>A, XM_011523678.1:c.-88C>A, XM_011523680.3:c.-88C>A, XM_011523680.2:c.-88C>A, XM_011523680.1:c.-88C>A, XM_047435446.1:c.-88C>A, XM_047435447.1:c.-88C>A, XM_047435448.1:c.-88C>A, XM_047435443.1:c.-88C>A, XM_047435451.1:c.-88C>A, XM_047435444.1:c.-88C>A, XM_047435452.1:c.-88C>A, XM_047435450.1:c.-88C>A, XM_047435449.1:c.-88C>A, XM_047435456.1:c.-88C>A, XR_007065269.1:n.153C>A, XM_047435458.1:c.-88C>A

Select item 147714965914.

rs1477149659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:8802977 (GRCh38)
17:8706295 (GRCh37)
Canonical SPDI:: NC_000017.11:8802976:T:C
Gene:: PIK3R6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.8802977T>C, NC_000017.10:g.8706295T>C, NG_033091.1:g.69701A>G, NM_001010855.4:c.*296A>G, NM_001010855.3:c.*296A>G, NM_001010855.2:c.*296A>G, NM_001290211.1:c.*296A>G, NR_110865.1:n.3037A>G, XM_011523677.3:c.*132A>G, XM_011523677.2:c.*132A>G, XM_011523677.1:c.*132A>G, XM_011523678.3:c.*132A>G, XM_011523678.2:c.*132A>G, XM_011523678.1:c.*132A>G, XM_011523680.3:c.*132A>G, XM_011523680.2:c.*132A>G, XM_011523680.1:c.*132A>G, XM_011523683.3:c.*132A>G, XM_011523683.2:c.*132A>G, XM_011523683.1:c.*132A>G, XM_011523686.3:c.*132A>G, XM_011523686.2:c.*132A>G, XM_011523686.1:c.*132A>G, XM_047435446.1:c.*296A>G, XM_047435447.1:c.*296A>G, XM_047435448.1:c.*296A>G, XM_047435443.1:c.*132A>G, XM_047435451.1:c.*296A>G, XM_047435444.1:c.*132A>G, XM_047435452.1:c.*296A>G, XM_047435457.1:c.*296A>G, XM_047435450.1:c.*132A>G, XM_047435453.1:c.*132A>G, XM_047435454.1:c.*132A>G

Select item 147473469415.

rs1474734694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:8835312 (GRCh38)
17:8738629 (GRCh37)
Canonical SPDI:: NC_000017.11:8835311:C:G,NC_000017.11:8835311:C:T
Gene:: PIK3R6 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.8835312C>G, NC_000017.11:g.8835312C>T, NC_000017.10:g.8738629C>G, NC_000017.10:g.8738629C>T, NG_033091.1:g.37366G>C, NG_033091.1:g.37366G>A, NM_001010855.4:c.606G>C, NM_001010855.4:c.606G>A, NM_001010855.3:c.606G>C, NM_001010855.3:c.606G>A, NM_001010855.2:c.606G>C, NM_001010855.2:c.606G>A, NM_001290211.1:c.198G>C, NM_001290211.1:c.198G>A, NR_110865.1:n.1098G>C, NR_110865.1:n.1098G>A, XM_011523677.3:c.606G>C, XM_011523677.3:c.606G>A, XM_011523677.2:c.606G>C, XM_011523677.2:c.606G>A, XM_011523677.1:c.606G>C, XM_011523677.1:c.606G>A, XM_011523678.3:c.606G>C, XM_011523678.3:c.606G>A, XM_011523678.2:c.606G>C, XM_011523678.2:c.606G>A, XM_011523678.1:c.606G>C, XM_011523678.1:c.606G>A, XM_011523680.3:c.606G>C, XM_011523680.3:c.606G>A, XM_011523680.2:c.606G>C, XM_011523680.2:c.606G>A, XM_011523680.1:c.606G>C, XM_011523680.1:c.606G>A, XM_011523683.3:c.366G>C, XM_011523683.3:c.366G>A, XM_011523683.2:c.366G>C, XM_011523683.2:c.366G>A, XM_011523683.1:c.366G>C, XM_011523683.1:c.366G>A, XM_047435446.1:c.606G>C, XM_047435446.1:c.606G>A, XM_047435447.1:c.606G>C, XM_047435447.1:c.606G>A, XM_047435448.1:c.606G>C, XM_047435448.1:c.606G>A, XM_047435443.1:c.606G>C, XM_047435443.1:c.606G>A, XM_047435451.1:c.606G>C, XM_047435451.1:c.606G>A, XM_047435444.1:c.606G>C, XM_047435444.1:c.606G>A, XM_047435452.1:c.606G>C, XM_047435452.1:c.606G>A, XM_047435457.1:c.366G>C, XM_047435457.1:c.366G>A, XM_047435450.1:c.606G>C, XM_047435450.1:c.606G>A, XM_047435453.1:c.366G>C, XM_047435453.1:c.366G>A, XM_047435449.1:c.606G>C, XM_047435449.1:c.606G>A, XM_047435454.1:c.366G>C, XM_047435454.1:c.366G>A, XM_047435456.1:c.606G>C, XM_047435456.1:c.606G>A, XR_007065269.1:n.846G>C, XR_007065269.1:n.846G>A, XM_047435458.1:c.606G>C, XM_047435458.1:c.606G>A

Select item 147342365716.

rs1473423657 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:8828652 (GRCh38)
17:8731969 (GRCh37)
Canonical SPDI:: NC_000017.11:8828651:C:
Gene:: PIK3R6 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8828652del, NC_000017.10:g.8731969del, NG_033091.1:g.44026del, NM_001010855.4:c.1228del, NM_001010855.3:c.1228del, NM_001010855.2:c.1228del, NM_001290211.1:c.820del, NR_110865.1:n.1563del, XM_011523677.3:c.1228del, XM_011523677.2:c.1228del, XM_011523677.1:c.1228del, XM_011523678.3:c.1213del, XM_011523678.2:c.1213del, XM_011523678.1:c.1213del, XM_011523680.3:c.1228del, XM_011523680.2:c.1228del, XM_011523680.1:c.1228del, XM_011523683.3:c.988del, XM_011523683.2:c.988del, XM_011523683.1:c.988del, XM_011523686.3:c.361del, XM_011523686.2:c.361del, XM_011523686.1:c.361del, XM_047435446.1:c.1228del, XM_047435447.1:c.1213del, XM_047435448.1:c.1213del, XM_047435443.1:c.1228del, XM_047435451.1:c.1228del, XM_047435444.1:c.1213del, XM_047435452.1:c.1213del, XM_047435457.1:c.988del, XM_047435450.1:c.1213del, XM_047435453.1:c.988del, XM_047435449.1:c.1228del, XM_047435454.1:c.988del, XM_047435456.1:c.1228del, XR_007065269.1:n.1468del, XM_047435458.1:c.*81del, NP_001010855.1:p.Val410fs, NP_001277140.1:p.Val274fs, XP_011521979.1:p.Val410fs, XP_011521980.1:p.Val405fs, XP_011521982.1:p.Val410fs, XP_011521985.1:p.Val330fs, XP_011521988.1:p.Val121fs, XP_047291402.1:p.Val410fs, XP_047291403.1:p.Val405fs, XP_047291404.1:p.Val405fs, XP_047291399.1:p.Val410fs, XP_047291407.1:p.Val410fs, XP_047291400.1:p.Val405fs, XP_047291408.1:p.Val405fs, XP_047291413.1:p.Val330fs, XP_047291406.1:p.Val405fs, XP_047291409.1:p.Val330fs, XP_047291405.1:p.Val410fs, XP_047291410.1:p.Val330fs, XP_047291412.1:p.Val410fs

Select item 147309485717.

rs1473094857 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8828884 (GRCh38)
17:8732201 (GRCh37)
Canonical SPDI:: NC_000017.11:8828883:C:T
Gene:: PIK3R6 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.8828884C>T, NC_000017.10:g.8732201C>T, NG_033091.1:g.43794G>A, NM_001010855.4:c.996G>A, NM_001010855.3:c.996G>A, NM_001010855.2:c.996G>A, NM_001290211.1:c.588G>A, NR_110865.1:n.1331G>A, XM_011523677.3:c.996G>A, XM_011523677.2:c.996G>A, XM_011523677.1:c.996G>A, XM_011523678.3:c.981G>A, XM_011523678.2:c.981G>A, XM_011523678.1:c.981G>A, XM_011523680.3:c.996G>A, XM_011523680.2:c.996G>A, XM_011523680.1:c.996G>A, XM_011523683.3:c.756G>A, XM_011523683.2:c.756G>A, XM_011523683.1:c.756G>A, XM_011523686.3:c.129G>A, XM_011523686.2:c.129G>A, XM_011523686.1:c.129G>A, XM_047435446.1:c.996G>A, XM_047435447.1:c.981G>A, XM_047435448.1:c.981G>A, XM_047435443.1:c.996G>A, XM_047435451.1:c.996G>A, XM_047435444.1:c.981G>A, XM_047435452.1:c.981G>A, XM_047435457.1:c.756G>A, XM_047435450.1:c.981G>A, XM_047435453.1:c.756G>A, XM_047435449.1:c.996G>A, XM_047435454.1:c.756G>A, XM_047435456.1:c.996G>A, XR_007065269.1:n.1236G>A, XM_047435458.1:c.1028G>A, XP_047291414.1:p.Gly343Glu

Select item 147247604318.

rs1472476043 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:8849808 (GRCh38)
17:8753125 (GRCh37)
Canonical SPDI:: NC_000017.11:8849807:T:A
Gene:: PIK3R6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8849808T>A, NC_000017.10:g.8753125T>A, NG_033091.1:g.22870A>T, NM_001010855.4:c.-14A>T, NM_001010855.3:c.-14A>T, NM_001010855.2:c.-14A>T, NM_001290211.1:c.-790A>T, NR_110865.1:n.227A>T, XM_011523677.3:c.-14A>T, XM_011523677.2:c.-14A>T, XM_011523677.1:c.-14A>T, XM_011523678.3:c.-14A>T, XM_011523678.2:c.-14A>T, XM_011523678.1:c.-14A>T, XM_011523680.3:c.-14A>T, XM_011523680.2:c.-14A>T, XM_011523680.1:c.-14A>T, XM_047435446.1:c.-14A>T, XM_047435447.1:c.-14A>T, XM_047435448.1:c.-14A>T, XM_047435443.1:c.-14A>T, XM_047435451.1:c.-14A>T, XM_047435444.1:c.-14A>T, XM_047435452.1:c.-14A>T, XM_047435450.1:c.-14A>T, XM_047435449.1:c.-14A>T, XM_047435456.1:c.-14A>T, XR_007065269.1:n.227A>T, XM_047435458.1:c.-14A>T

Select item 147149746519.

rs1471497465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8828575 (GRCh38)
17:8731892 (GRCh37)
Canonical SPDI:: NC_000017.11:8828574:G:A
Gene:: PIK3R6 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8828575G>A, NC_000017.10:g.8731892G>A, NG_033091.1:g.44103C>T, NM_001010855.4:c.1305C>T, NM_001010855.3:c.1305C>T, NM_001010855.2:c.1305C>T, NM_001290211.1:c.897C>T, NR_110865.1:n.1640C>T, XM_011523677.3:c.1305C>T, XM_011523677.2:c.1305C>T, XM_011523677.1:c.1305C>T, XM_011523678.3:c.1290C>T, XM_011523678.2:c.1290C>T, XM_011523678.1:c.1290C>T, XM_011523680.3:c.1305C>T, XM_011523680.2:c.1305C>T, XM_011523680.1:c.1305C>T, XM_011523683.3:c.1065C>T, XM_011523683.2:c.1065C>T, XM_011523683.1:c.1065C>T, XM_011523686.3:c.438C>T, XM_011523686.2:c.438C>T, XM_011523686.1:c.438C>T, XM_047435446.1:c.1305C>T, XM_047435447.1:c.1290C>T, XM_047435448.1:c.1290C>T, XM_047435443.1:c.1305C>T, XM_047435451.1:c.1305C>T, XM_047435444.1:c.1290C>T, XM_047435452.1:c.1290C>T, XM_047435457.1:c.1065C>T, XM_047435450.1:c.1290C>T, XM_047435453.1:c.1065C>T, XM_047435449.1:c.1305C>T, XM_047435454.1:c.1065C>T, XM_047435456.1:c.1305C>T, XR_007065269.1:n.1545C>T

Select item 147057363920.

rs1470573639 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:8823434 (GRCh38)
17:8726752 (GRCh37)
Canonical SPDI:: NC_000017.11:8823434::AAAAAAAAAAAA
Gene:: PIK3R6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,inframe_insertion,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.8823434_8823435insAAAAAAAAAAAA, NC_000017.10:g.8726751_8726752insAAAAAAAAAAAA, NG_033091.1:g.49243_49244insTTTTTTTTTTTT, NM_001010855.4:c.1578_1579insTTTTTTTTTTTT, NM_001010855.3:c.1578_1579insTTTTTTTTTTTT, NM_001010855.2:c.1578_1579insTTTTTTTTTTTT, NM_001290211.1:c.1170_1171insTTTTTTTTTTTT, NR_110865.1:n.1913_1914insTTTTTTTTTTTT, XM_011523677.3:c.1575_1576insTTTTTTTTTTTT, XM_011523677.2:c.1575_1576insTTTTTTTTTTTT, XM_011523677.1:c.1575_1576insTTTTTTTTTTTT, XM_011523678.3:c.1563_1564insTTTTTTTTTTTT, XM_011523678.2:c.1563_1564insTTTTTTTTTTTT, XM_011523678.1:c.1563_1564insTTTTTTTTTTTT, XM_011523680.3:c.1455_1456insTTTTTTTTTTTT, XM_011523680.2:c.1455_1456insTTTTTTTTTTTT, XM_011523680.1:c.1455_1456insTTTTTTTTTTTT, XM_011523683.3:c.1338_1339insTTTTTTTTTTTT, XM_011523683.2:c.1338_1339insTTTTTTTTTTTT, XM_011523683.1:c.1338_1339insTTTTTTTTTTTT, XM_011523686.3:c.711_712insTTTTTTTTTTTT, XM_011523686.2:c.711_712insTTTTTTTTTTTT, XM_011523686.1:c.711_712insTTTTTTTTTTTT, XM_047435446.1:c.1575_1576insTTTTTTTTTTTT, XM_047435447.1:c.1563_1564insTTTTTTTTTTTT, XM_047435448.1:c.1560_1561insTTTTTTTTTTTT, XM_047435443.1:c.1578_1579insTTTTTTTTTTTT, XM_047435451.1:c.1455_1456insTTTTTTTTTTTT, XM_047435444.1:c.1560_1561insTTTTTTTTTTTT, XM_047435452.1:c.1440_1441insTTTTTTTTTTTT, XM_047435457.1:c.1338_1339insTTTTTTTTTTTT, XM_047435450.1:c.1440_1441insTTTTTTTTTTTT, XM_047435453.1:c.1338_1339insTTTTTTTTTTTT, XM_047435449.1:c.1578_1579insTTTTTTTTTTTT, XM_047435454.1:c.1338_1339insTTTTTTTTTTTT, XM_047435456.1:c.1578_1579insTTTTTTTTTTTT, XR_007065269.1:n.1892_1893insTTTTTTTTTTTT, NP_001010855.1:p.Ile527_Arg528insPhePhePhePhe, NP_001277140.1:p.Ile391_Arg392insPhePhePhePhe, XP_011521979.1:p.Ile526_Arg527insPhePhePhePhe, XP_011521980.1:p.Ile522_Arg523insPhePhePhePhe, XP_011521982.1:p.Ile486_Arg487insPhePhePhePhe, XP_011521985.1:p.Ile447_Arg448insPhePhePhePhe, XP_011521988.1:p.Ile238_Arg239insPhePhePhePhe, XP_047291402.1:p.Ile526_Arg527insPhePhePhePhe, XP_047291403.1:p.Ile522_Arg523insPhePhePhePhe, XP_047291404.1:p.Ile521_Arg522insPhePhePhePhe, XP_047291399.1:p.Ile527_Arg528insPhePhePhePhe, XP_047291407.1:p.Ile486_Arg487insPhePhePhePhe, XP_047291400.1:p.Ile521_Arg522insPhePhePhePhe, XP_047291408.1:p.Ile481_Arg482insPhePhePhePhe, XP_047291413.1:p.Ile447_Arg448insPhePhePhePhe, XP_047291406.1:p.Ile481_Arg482insPhePhePhePhe, XP_047291409.1:p.Ile447_Arg448insPhePhePhePhe, XP_047291405.1:p.Ile527_Arg528insPhePhePhePhe, XP_047291410.1:p.Ile447_Arg448insPhePhePhePhe, XP_047291412.1:p.Ile527_Arg528insPhePhePhePhe

<< First< Prev

Page of 57

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Nucleotide (Select 589269247) (1124)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...