SNP Links for Protein (Select 63055059) - SNP

Links from Protein

Items: 1 to 20 of 940

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Select item 14902674981.

rs1490267498 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:172347318 (GRCh38)
5:171774322 (GRCh37)
Canonical SPDI:: NC_000005.10:172347317:T:A,NC_000005.10:172347317:T:C
Gene:: SH3PXD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.172347318T>A, NC_000005.10:g.172347318T>C, NC_000005.9:g.171774322T>A, NC_000005.9:g.171774322T>C, NG_027746.2:g.112206A>T, NG_027746.2:g.112206A>G, NM_001017995.3:c.1027A>T, NM_001017995.3:c.1027A>G, NM_001017995.2:c.1027A>T, NM_001017995.2:c.1027A>G, NM_001308175.2:c.1027A>T, NM_001308175.2:c.1027A>G, NM_001308175.1:c.1027A>T, NM_001308175.1:c.1027A>G, XM_017009351.2:c.1111A>T, XM_017009351.2:c.1111A>G, XM_017009351.1:c.1111A>T, XM_017009351.1:c.1111A>G, NP_001017995.1:p.Arg343Trp, NP_001017995.1:p.Arg343Gly, NP_001295104.1:p.Arg343Trp, NP_001295104.1:p.Arg343Gly, XP_016864840.1:p.Arg371Trp, XP_016864840.1:p.Arg371Gly

Select item 14902415692.

rs1490241569 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:172339624 (GRCh38)
5:171766628 (GRCh37)
Canonical SPDI:: NC_000005.10:172339623:A:G
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172339624A>G, NC_000005.9:g.171766628A>G, NG_027746.2:g.119900T>C, NM_001017995.3:c.1481T>C, NM_001017995.2:c.1481T>C, XM_017009351.2:c.1565T>C, XM_017009351.1:c.1565T>C, NP_001017995.1:p.Val494Ala, XP_016864840.1:p.Val522Ala

Select item 14892291143.

rs1489229114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:172338972 (GRCh38)
5:171765976 (GRCh37)
Canonical SPDI:: NC_000005.10:172338971:G:A
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.172338972G>A, NC_000005.9:g.171765976G>A, NG_027746.2:g.120552C>T, NM_001017995.3:c.2133C>T, NM_001017995.2:c.2133C>T, XM_017009351.2:c.2217C>T, XM_017009351.1:c.2217C>T

Select item 14889518504.

rs1488951850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:172338849 (GRCh38)
5:171765853 (GRCh37)
Canonical SPDI:: NC_000005.10:172338848:C:T
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_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_000005.10:g.172338849C>T, NC_000005.9:g.171765853C>T, NG_027746.2:g.120675G>A, NM_001017995.3:c.2256G>A, NM_001017995.2:c.2256G>A, XM_017009351.2:c.2340G>A, XM_017009351.1:c.2340G>A

Select item 14870567205.

rs1487056720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:172339810 (GRCh38)
5:171766814 (GRCh37)
Canonical SPDI:: NC_000005.10:172339809:G:A
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.172339810G>A, NC_000005.9:g.171766814G>A, NG_027746.2:g.119714C>T, NM_001017995.3:c.1295C>T, NM_001017995.2:c.1295C>T, XM_017009351.2:c.1379C>T, XM_017009351.1:c.1379C>T, NP_001017995.1:p.Ser432Leu, XP_016864840.1:p.Ser460Leu

Select item 14843932796.

rs1484393279 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:172339106 (GRCh38)
5:171766110 (GRCh37)
Canonical SPDI:: NC_000005.10:172339105:T:C
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172339106T>C, NC_000005.9:g.171766110T>C, NG_027746.2:g.120418A>G, NM_001017995.3:c.1999A>G, NM_001017995.2:c.1999A>G, XM_017009351.2:c.2083A>G, XM_017009351.1:c.2083A>G, NP_001017995.1:p.Arg667Gly, XP_016864840.1:p.Arg695Gly

Select item 14838069157.

rs1483806915 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 5:172338464 (GRCh38)
5:171765468 (GRCh37)
Canonical SPDI:: NC_000005.10:172338459:TTCTTCT:TTCT
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: TTCT=0.000447/2 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000005.10:g.172338461TCT[1], NC_000005.9:g.171765465TCT[1], NG_027746.2:g.121059GAA[1], NM_001017995.3:c.2640GAA[1], NM_001017995.2:c.2640GAA[1], XM_017009351.2:c.2724GAA[1], XM_017009351.1:c.2724GAA[1], NP_001017995.1:p.Lys881del, XP_016864840.1:p.Lys909del

Select item 14826946138.

rs1482694613 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:172338404 (GRCh38)
5:171765408 (GRCh37)
Canonical SPDI:: NC_000005.10:172338403:A:C,NC_000005.10:172338403:A:G
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.003825/7 (Korea1K)
HGVS:: NC_000005.10:g.172338404A>C, NC_000005.10:g.172338404A>G, NC_000005.9:g.171765408A>C, NC_000005.9:g.171765408A>G, NG_027746.2:g.121120T>G, NG_027746.2:g.121120T>C, NM_001017995.3:c.2701T>G, NM_001017995.3:c.2701T>C, NM_001017995.2:c.2701T>G, NM_001017995.2:c.2701T>C, XM_017009351.2:c.2785T>G, XM_017009351.2:c.2785T>C, XM_017009351.1:c.2785T>G, XM_017009351.1:c.2785T>C, NP_001017995.1:p.Trp901Gly, NP_001017995.1:p.Trp901Arg, XP_016864840.1:p.Trp929Gly, XP_016864840.1:p.Trp929Arg

Select item 14821801629.

rs1482180162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:172339016 (GRCh38)
5:171766020 (GRCh37)
Canonical SPDI:: NC_000005.10:172339015:T:C
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172339016T>C, NC_000005.9:g.171766020T>C, NG_027746.2:g.120508A>G, NM_001017995.3:c.2089A>G, NM_001017995.2:c.2089A>G, XM_017009351.2:c.2173A>G, XM_017009351.1:c.2173A>G, NP_001017995.1:p.Ser697Gly, XP_016864840.1:p.Ser725Gly

Select item 148027206910.

rs1480272069 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 5:172339559 (GRCh38)
5:171766563 (GRCh37)
Canonical SPDI:: NC_000005.10:172339558:T:A,NC_000005.10:172339558:T:C,NC_000005.10:172339558:T:G
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.172339559T>A, NC_000005.10:g.172339559T>C, NC_000005.10:g.172339559T>G, NC_000005.9:g.171766563T>A, NC_000005.9:g.171766563T>C, NC_000005.9:g.171766563T>G, NG_027746.2:g.119965A>T, NG_027746.2:g.119965A>G, NG_027746.2:g.119965A>C, NM_001017995.3:c.1546A>T, NM_001017995.3:c.1546A>G, NM_001017995.3:c.1546A>C, NM_001017995.2:c.1546A>T, NM_001017995.2:c.1546A>G, NM_001017995.2:c.1546A>C, XM_017009351.2:c.1630A>T, XM_017009351.2:c.1630A>G, XM_017009351.2:c.1630A>C, XM_017009351.1:c.1630A>T, XM_017009351.1:c.1630A>G, XM_017009351.1:c.1630A>C, NP_001017995.1:p.Met516Leu, NP_001017995.1:p.Met516Val, NP_001017995.1:p.Met516Leu, XP_016864840.1:p.Met544Leu, XP_016864840.1:p.Met544Val, XP_016864840.1:p.Met544Leu

Select item 147977335711.

rs1479773357 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:172338598 (GRCh38)
5:171765602 (GRCh37)
Canonical SPDI:: NC_000005.10:172338597:CT:
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.172338598_172338599del, NC_000005.9:g.171765602_171765603del, NG_027746.2:g.120925_120926del, NM_001017995.3:c.2506_2507del, NM_001017995.2:c.2506_2507del, XM_017009351.2:c.2590_2591del, XM_017009351.1:c.2590_2591del, NP_001017995.1:p.Arg836fs, XP_016864840.1:p.Arg864fs

Select item 147805815912.

rs1478058159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:172338976 (GRCh38)
5:171765980 (GRCh37)
Canonical SPDI:: NC_000005.10:172338975:T:C
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.172338976T>C, NC_000005.9:g.171765980T>C, NG_027746.2:g.120548A>G, NM_001017995.3:c.2129A>G, NM_001017995.2:c.2129A>G, XM_017009351.2:c.2213A>G, XM_017009351.1:c.2213A>G, NP_001017995.1:p.Gln710Arg, XP_016864840.1:p.Gln738Arg

Select item 147788841713.

rs1477888417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:172382056 (GRCh38)
5:171809060 (GRCh37)
Canonical SPDI:: NC_000005.10:172382055:C:A,NC_000005.10:172382055:C:T
Gene:: SH3PXD2B (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.172382056C>A, NC_000005.10:g.172382056C>T, NC_000005.9:g.171809060C>A, NC_000005.9:g.171809060C>T, NG_027746.2:g.77468G>T, NG_027746.2:g.77468G>A, NM_001017995.3:c.381G>T, NM_001017995.3:c.381G>A, NM_001017995.2:c.381G>T, NM_001017995.2:c.381G>A, NM_001308175.2:c.381G>T, NM_001308175.2:c.381G>A, NM_001308175.1:c.381G>T, NM_001308175.1:c.381G>A, XM_017009351.2:c.381G>T, XM_017009351.2:c.381G>A, XM_017009351.1:c.381G>T, XM_017009351.1:c.381G>A, NP_001017995.1:p.Glu127Asp, NP_001295104.1:p.Glu127Asp, XP_016864840.1:p.Glu127Asp

Select item 147743378314.

rs1477433783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:172339565 (GRCh38)
5:171766569 (GRCh37)
Canonical SPDI:: NC_000005.10:172339564:G:A
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.172339565G>A, NC_000005.9:g.171766569G>A, NG_027746.2:g.119959C>T, NM_001017995.3:c.1540C>T, NM_001017995.2:c.1540C>T, XM_017009351.2:c.1624C>T, XM_017009351.1:c.1624C>T, NP_001017995.1:p.Pro514Ser, XP_016864840.1:p.Pro542Ser

Select item 147675686815.

rs1476756868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:172362777 (GRCh38)
5:171789781 (GRCh37)
Canonical SPDI:: NC_000005.10:172362776:T:C
Gene:: SH3PXD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172362777T>C, NC_000005.9:g.171789781T>C, NG_027746.2:g.96747A>G, NM_001017995.3:c.520A>G, NM_001017995.2:c.520A>G, NM_001308175.2:c.520A>G, NM_001308175.1:c.520A>G, XM_017009351.2:c.520A>G, XM_017009351.1:c.520A>G, NP_001017995.1:p.Ser174Gly, NP_001295104.1:p.Ser174Gly, XP_016864840.1:p.Ser174Gly

Select item 147629019016.

rs1476290190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:172338421 (GRCh38)
5:171765425 (GRCh37)
Canonical SPDI:: NC_000005.10:172338420:G:A
Gene:: SH3PXD2B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000005.10:g.172338421G>A, NC_000005.9:g.171765425G>A, NG_027746.2:g.121103C>T, NM_001017995.3:c.2684C>T, NM_001017995.2:c.2684C>T, XM_017009351.2:c.2768C>T, XM_017009351.1:c.2768C>T, NP_001017995.1:p.Ala895Val, XP_016864840.1:p.Ala923Val

Select item 147088314717.

rs1470883147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:172350524 (GRCh38)
5:171777528 (GRCh37)
Canonical SPDI:: NC_000005.10:172350523:G:A
Gene:: SH3PXD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172350524G>A, NC_000005.9:g.171777528G>A, NG_027746.2:g.109000C>T, NM_001017995.3:c.851C>T, NM_001017995.2:c.851C>T, NM_001308175.2:c.851C>T, NM_001308175.1:c.851C>T, XM_017009351.2:c.935C>T, XM_017009351.1:c.935C>T, NP_001017995.1:p.Pro284Leu, NP_001295104.1:p.Pro284Leu, XP_016864840.1:p.Pro312Leu

Select item 146977008318.

rs1469770083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:172422453 (GRCh38)
5:171849457 (GRCh37)
Canonical SPDI:: NC_000005.10:172422452:G:A
Gene:: SH3PXD2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.172422453G>A, NC_000005.9:g.171849457G>A, NG_027746.2:g.37071C>T, NM_001017995.3:c.119C>T, NM_001017995.2:c.119C>T, NM_001308175.2:c.119C>T, NM_001308175.1:c.119C>T, XM_017009351.2:c.119C>T, XM_017009351.1:c.119C>T, NP_001017995.1:p.Ala40Val, NP_001295104.1:p.Ala40Val, XP_016864840.1:p.Ala40Val

Select item 146861173519.

rs1468611735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:172362799 (GRCh38)
5:171789803 (GRCh37)
Canonical SPDI:: NC_000005.10:172362798:C:T
Gene:: SH3PXD2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.172362799C>T, NC_000005.9:g.171789803C>T, NG_027746.2:g.96725G>A, NM_001017995.3:c.498G>A, NM_001017995.2:c.498G>A, NM_001308175.2:c.498G>A, NM_001308175.1:c.498G>A, XM_017009351.2:c.498G>A, XM_017009351.1:c.498G>A

Select item 146741077920.

rs1467410779 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:172339487 (GRCh38)
5:171766491 (GRCh37)
Canonical SPDI:: NC_000005.10:172339486:CCC:CC
Gene:: SH3PXD2B (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172339489del, NC_000005.9:g.171766493del, NG_027746.2:g.120037del, NM_001017995.3:c.1618del, NM_001017995.2:c.1618del, XM_017009351.2:c.1702del, XM_017009351.1:c.1702del, NP_001017995.1:p.Glu540fs, XP_016864840.1:p.Glu568fs

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