SNP Links for Protein (Select 1034659458) - SNP

Links from Protein

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Select item 14903604391.

rs1490360439 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:100588974 (GRCh38)
8:101601202 (GRCh37)
Canonical SPDI:: NC_000008.11:100588973:A:G
Gene:: SNX31 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.100588974A>G, NC_000008.10:g.101601202A>G, NM_152628.4:c.984T>C, NM_152628.3:c.984T>C, XM_011516899.2:c.786T>C, XM_011516899.1:c.786T>C, XM_017013163.2:c.369T>C, XM_017013163.1:c.369T>C, XM_017013154.2:c.984T>C, XM_017013154.1:c.984T>C, XM_017013156.2:c.984T>C, XM_017013156.1:c.984T>C, XM_017013160.2:c.780T>C, XM_017013160.1:c.780T>C, XM_017013161.2:c.735T>C, XM_017013161.1:c.735T>C, XM_024447085.2:c.735T>C, XM_024447085.1:c.735T>C, XM_024447084.2:c.687T>C, XM_024447084.1:c.687T>C, XM_017013153.1:c.984T>C, XM_017013155.1:c.984T>C, NM_001363720.1:c.687T>C, XM_017013164.1:c.*38T>C

Select item 14901058972.

rs1490105897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:100584183 (GRCh38)
8:101596411 (GRCh37)
Canonical SPDI:: NC_000008.11:100584182:A:C
Gene:: SNX31 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.100584183A>C, NC_000008.10:g.101596411A>C, NM_152628.4:c.1098T>G, NM_152628.3:c.1098T>G, XM_011516899.2:c.900T>G, XM_011516899.1:c.900T>G, XM_017013163.2:c.483T>G, XM_017013163.1:c.483T>G, XM_017013154.2:c.1098T>G, XM_017013154.1:c.1098T>G, XM_017013156.2:c.1098T>G, XM_017013156.1:c.1098T>G, XM_017013157.2:c.984T>G, XM_017013157.1:c.984T>G, XM_017013158.2:c.984T>G, XM_017013158.1:c.984T>G, XM_017013159.2:c.984T>G, XM_017013159.1:c.984T>G, XM_017013160.2:c.894T>G, XM_017013160.1:c.894T>G, XM_017013161.2:c.849T>G, XM_017013161.1:c.849T>G, XM_024447085.2:c.849T>G, XM_024447085.1:c.849T>G, XM_017013162.2:c.780T>G, XM_017013162.1:c.780T>G, XM_024447084.2:c.801T>G, XM_024447084.1:c.801T>G, XM_024447086.2:c.687T>G, XM_024447086.1:c.687T>G, XM_017013153.1:c.1098T>G, XM_017013155.1:c.1098T>G, NM_001363720.1:c.801T>G, XM_017013165.1:c.*38T>G, NP_689841.3:p.Phe366Leu, XP_011515201.1:p.Phe300Leu, XP_016868652.1:p.Phe161Leu, XP_016868643.1:p.Phe366Leu, XP_016868645.1:p.Phe366Leu, XP_016868646.1:p.Phe328Leu, XP_016868647.1:p.Phe328Leu, XP_016868648.1:p.Phe328Leu, XP_016868649.1:p.Phe298Leu, XP_016868650.1:p.Phe283Leu, XP_024302853.1:p.Phe283Leu, XP_016868651.1:p.Phe260Leu, XP_024302852.1:p.Phe267Leu, XP_024302854.1:p.Phe229Leu, XP_016868642.1:p.Phe366Leu, XP_016868644.1:p.Phe366Leu, NP_001350649.1:p.Phe267Leu

Select item 14886038723.

rs1488603872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:100608561 (GRCh38)
8:101620789 (GRCh37)
Canonical SPDI:: NC_000008.11:100608560:T:C
Gene:: SNX31 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100608561T>C, NC_000008.10:g.101620789T>C, NM_152628.4:c.614A>G, NM_152628.3:c.614A>G, XM_011516899.2:c.416A>G, XM_011516899.1:c.416A>G, XM_017013163.2:c.-2A>G, XM_017013163.1:c.-2A>G, XM_017013154.2:c.614A>G, XM_017013154.1:c.614A>G, XM_017013156.2:c.614A>G, XM_017013156.1:c.614A>G, XM_017013157.2:c.614A>G, XM_017013157.1:c.614A>G, XM_017013158.2:c.614A>G, XM_017013158.1:c.614A>G, XM_017013159.2:c.614A>G, XM_017013159.1:c.614A>G, XM_017013160.2:c.614A>G, XM_017013160.1:c.614A>G, XM_017013162.2:c.614A>G, XM_017013162.1:c.614A>G, XM_024447084.2:c.317A>G, XM_024447084.1:c.317A>G, XM_024447086.2:c.317A>G, XM_024447086.1:c.317A>G, XM_017013153.1:c.614A>G, XM_017013155.1:c.614A>G, NM_001363720.1:c.317A>G, NP_689841.3:p.Tyr205Cys, XP_011515201.1:p.Tyr139Cys, XP_016868643.1:p.Tyr205Cys, XP_016868645.1:p.Tyr205Cys, XP_016868646.1:p.Tyr205Cys, XP_016868647.1:p.Tyr205Cys, XP_016868648.1:p.Tyr205Cys, XP_016868649.1:p.Tyr205Cys, XP_016868651.1:p.Tyr205Cys, XP_024302852.1:p.Tyr106Cys, XP_024302854.1:p.Tyr106Cys, XP_016868642.1:p.Tyr205Cys, XP_016868644.1:p.Tyr205Cys, NP_001350649.1:p.Tyr106Cys

Select item 14879897404.

rs1487989740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:100613006 (GRCh38)
8:101625234 (GRCh37)
Canonical SPDI:: NC_000008.11:100613005:C:T
Gene:: SNX31 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100613006C>T, NC_000008.10:g.101625234C>T, NM_152628.4:c.512G>A, NM_152628.3:c.512G>A, XM_011516899.2:c.314G>A, XM_011516899.1:c.314G>A, XM_017013163.2:c.-104G>A, XM_017013163.1:c.-104G>A, XM_017013154.2:c.512G>A, XM_017013154.1:c.512G>A, XM_017013156.2:c.512G>A, XM_017013156.1:c.512G>A, XM_017013157.2:c.512G>A, XM_017013157.1:c.512G>A, XM_017013158.2:c.512G>A, XM_017013158.1:c.512G>A, XM_017013159.2:c.512G>A, XM_017013159.1:c.512G>A, XM_017013160.2:c.512G>A, XM_017013160.1:c.512G>A, XM_017013162.2:c.512G>A, XM_017013162.1:c.512G>A, XM_024447084.2:c.215G>A, XM_024447084.1:c.215G>A, XM_024447086.2:c.215G>A, XM_024447086.1:c.215G>A, XM_017013153.1:c.512G>A, XM_017013155.1:c.512G>A, NM_001363720.1:c.215G>A, XM_047421413.1:c.512G>A, XM_017013164.1:c.512G>A, XM_017013165.1:c.512G>A, NP_689841.3:p.Gly171Asp, XP_011515201.1:p.Gly105Asp, XP_016868643.1:p.Gly171Asp, XP_016868645.1:p.Gly171Asp, XP_016868646.1:p.Gly171Asp, XP_016868647.1:p.Gly171Asp, XP_016868648.1:p.Gly171Asp, XP_016868649.1:p.Gly171Asp, XP_016868651.1:p.Gly171Asp, XP_024302852.1:p.Gly72Asp, XP_024302854.1:p.Gly72Asp, XP_016868642.1:p.Gly171Asp, XP_016868644.1:p.Gly171Asp, NP_001350649.1:p.Gly72Asp, XP_047277369.1:p.Gly171Asp, XP_016868653.1:p.Gly171Asp, XP_016868654.1:p.Gly171Asp

Select item 14871748035.

rs1487174803 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:100588903 (GRCh38)
8:101601131 (GRCh37)
Canonical SPDI:: NC_000008.11:100588902:T:C
Gene:: SNX31 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100588903T>C, NC_000008.10:g.101601131T>C, NM_152628.4:c.1055A>G, NM_152628.3:c.1055A>G, XM_011516899.2:c.857A>G, XM_011516899.1:c.857A>G, XM_017013163.2:c.440A>G, XM_017013163.1:c.440A>G, XM_017013154.2:c.1055A>G, XM_017013154.1:c.1055A>G, XM_017013156.2:c.1055A>G, XM_017013156.1:c.1055A>G, XM_017013160.2:c.851A>G, XM_017013160.1:c.851A>G, XM_017013161.2:c.806A>G, XM_017013161.1:c.806A>G, XM_024447085.2:c.806A>G, XM_024447085.1:c.806A>G, XM_024447084.2:c.758A>G, XM_024447084.1:c.758A>G, XM_017013153.1:c.1055A>G, XM_017013155.1:c.1055A>G, NM_001363720.1:c.758A>G, XM_017013164.1:c.*109A>G, NP_689841.3:p.Asp352Gly, XP_011515201.1:p.Asp286Gly, XP_016868652.1:p.Asp147Gly, XP_016868643.1:p.Asp352Gly, XP_016868645.1:p.Asp352Gly, XP_016868649.1:p.Asp284Gly, XP_016868650.1:p.Asp269Gly, XP_024302853.1:p.Asp269Gly, XP_024302852.1:p.Asp253Gly, XP_016868642.1:p.Asp352Gly, XP_016868644.1:p.Asp352Gly, NP_001350649.1:p.Asp253Gly

Select item 14864622796.

rs1486462279 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:100630341 (GRCh38)
8:101642569 (GRCh37)
Canonical SPDI:: NC_000008.11:100630340:T:G
Gene:: SNX31 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_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_000008.11:g.100630341T>G, NC_000008.10:g.101642569T>G, NM_152628.4:c.307A>C, NM_152628.3:c.307A>C, XM_011516899.2:c.109A>C, XM_011516899.1:c.109A>C, XM_017013154.2:c.307A>C, XM_017013154.1:c.307A>C, XM_017013156.2:c.307A>C, XM_017013156.1:c.307A>C, XM_017013157.2:c.307A>C, XM_017013157.1:c.307A>C, XM_017013158.2:c.307A>C, XM_017013158.1:c.307A>C, XM_017013159.2:c.307A>C, XM_017013159.1:c.307A>C, XM_017013160.2:c.307A>C, XM_017013160.1:c.307A>C, XM_017013161.2:c.307A>C, XM_017013161.1:c.307A>C, XM_024447085.2:c.307A>C, XM_024447085.1:c.307A>C, XM_017013162.2:c.307A>C, XM_017013162.1:c.307A>C, XM_017013153.1:c.307A>C, XM_017013155.1:c.307A>C, XM_047421413.1:c.307A>C, XM_017013164.1:c.307A>C, XM_017013165.1:c.307A>C, NP_689841.3:p.Lys103Gln, XP_011515201.1:p.Lys37Gln, XP_016868643.1:p.Lys103Gln, XP_016868645.1:p.Lys103Gln, XP_016868646.1:p.Lys103Gln, XP_016868647.1:p.Lys103Gln, XP_016868648.1:p.Lys103Gln, XP_016868649.1:p.Lys103Gln, XP_016868650.1:p.Lys103Gln, XP_024302853.1:p.Lys103Gln, XP_016868651.1:p.Lys103Gln, XP_016868642.1:p.Lys103Gln, XP_016868644.1:p.Lys103Gln, XP_047277369.1:p.Lys103Gln, XP_016868653.1:p.Lys103Gln, XP_016868654.1:p.Lys103Gln

Select item 14805306477.

rs1480530647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:100588911 (GRCh38)
8:101601139 (GRCh37)
Canonical SPDI:: NC_000008.11:100588910:G:A
Gene:: SNX31 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100588911G>A, NC_000008.10:g.101601139G>A, NM_152628.4:c.1047C>T, NM_152628.3:c.1047C>T, XM_011516899.2:c.849C>T, XM_011516899.1:c.849C>T, XM_017013163.2:c.432C>T, XM_017013163.1:c.432C>T, XM_017013154.2:c.1047C>T, XM_017013154.1:c.1047C>T, XM_017013156.2:c.1047C>T, XM_017013156.1:c.1047C>T, XM_017013160.2:c.843C>T, XM_017013160.1:c.843C>T, XM_017013161.2:c.798C>T, XM_017013161.1:c.798C>T, XM_024447085.2:c.798C>T, XM_024447085.1:c.798C>T, XM_024447084.2:c.750C>T, XM_024447084.1:c.750C>T, XM_017013153.1:c.1047C>T, XM_017013155.1:c.1047C>T, NM_001363720.1:c.750C>T, XM_017013164.1:c.*101C>T

Select item 14785745908.

rs1478574590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:100608503 (GRCh38)
8:101620731 (GRCh37)
Canonical SPDI:: NC_000008.11:100608502:G:C
Gene:: SNX31 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100608503G>C, NC_000008.10:g.101620731G>C, NM_152628.4:c.672C>G, NM_152628.3:c.672C>G, XM_011516899.2:c.474C>G, XM_011516899.1:c.474C>G, XM_017013163.2:c.57C>G, XM_017013163.1:c.57C>G, XM_017013154.2:c.672C>G, XM_017013154.1:c.672C>G, XM_017013156.2:c.672C>G, XM_017013156.1:c.672C>G, XM_017013157.2:c.672C>G, XM_017013157.1:c.672C>G, XM_017013158.2:c.672C>G, XM_017013158.1:c.672C>G, XM_017013159.2:c.672C>G, XM_017013159.1:c.672C>G, XM_017013160.2:c.672C>G, XM_017013160.1:c.672C>G, XM_017013162.2:c.672C>G, XM_017013162.1:c.672C>G, XM_024447084.2:c.375C>G, XM_024447084.1:c.375C>G, XM_024447086.2:c.375C>G, XM_024447086.1:c.375C>G, XM_017013153.1:c.672C>G, XM_017013155.1:c.672C>G, NM_001363720.1:c.375C>G

Select item 14777485209.

rs1477748520 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:100617681 (GRCh38)
8:101629909 (GRCh37)
Canonical SPDI:: NC_000008.11:100617680:G:A
Gene:: SNX31 (Varview), LOC105375671 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000008.11:g.100617681G>A, NC_000008.10:g.101629909G>A, NM_152628.4:c.371C>T, NM_152628.3:c.371C>T, XM_011516899.2:c.173C>T, XM_011516899.1:c.173C>T, XM_017013163.2:c.-245C>T, XM_017013163.1:c.-245C>T, XM_017013154.2:c.371C>T, XM_017013154.1:c.371C>T, XM_017013156.2:c.371C>T, XM_017013156.1:c.371C>T, XM_017013157.2:c.371C>T, XM_017013157.1:c.371C>T, XM_017013158.2:c.371C>T, XM_017013158.1:c.371C>T, XM_017013159.2:c.371C>T, XM_017013159.1:c.371C>T, XM_017013160.2:c.371C>T, XM_017013160.1:c.371C>T, XM_017013161.2:c.371C>T, XM_017013161.1:c.371C>T, XM_024447085.2:c.371C>T, XM_024447085.1:c.371C>T, XM_017013162.2:c.371C>T, XM_017013162.1:c.371C>T, XM_024447084.2:c.74C>T, XM_024447084.1:c.74C>T, XM_024447086.2:c.74C>T, XM_024447086.1:c.74C>T, XM_017013153.1:c.371C>T, XM_017013155.1:c.371C>T, NM_001363720.1:c.74C>T, XM_047421413.1:c.371C>T, XM_017013164.1:c.371C>T, XM_017013165.1:c.371C>T, NP_689841.3:p.Pro124Leu, XP_011515201.1:p.Pro58Leu, XP_016868643.1:p.Pro124Leu, XP_016868645.1:p.Pro124Leu, XP_016868646.1:p.Pro124Leu, XP_016868647.1:p.Pro124Leu, XP_016868648.1:p.Pro124Leu, XP_016868649.1:p.Pro124Leu, XP_016868650.1:p.Pro124Leu, XP_024302853.1:p.Pro124Leu, XP_016868651.1:p.Pro124Leu, XP_024302852.1:p.Pro25Leu, XP_024302854.1:p.Pro25Leu, XP_016868642.1:p.Pro124Leu, XP_016868644.1:p.Pro124Leu, NP_001350649.1:p.Pro25Leu, XP_047277369.1:p.Pro124Leu, XP_016868653.1:p.Pro124Leu, XP_016868654.1:p.Pro124Leu

Select item 147707075710.

rs1477070757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:100573938 (GRCh38)
8:101586166 (GRCh37)
Canonical SPDI:: NC_000008.11:100573937:A:G
Gene:: SNX31 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100573938A>G, NC_000008.10:g.101586166A>G, NM_152628.4:c.1250T>C, NM_152628.3:c.1250T>C, XM_011516899.2:c.1052T>C, XM_011516899.1:c.1052T>C, XM_017013163.2:c.635T>C, XM_017013163.1:c.635T>C, XM_017013154.2:c.1247T>C, XM_017013154.1:c.1247T>C, XM_017013156.2:c.1193T>C, XM_017013156.1:c.1193T>C, XM_017013157.2:c.1136T>C, XM_017013157.1:c.1136T>C, XM_017013158.2:c.1133T>C, XM_017013158.1:c.1133T>C, XM_017013159.2:c.1079T>C, XM_017013159.1:c.1079T>C, XM_017013160.2:c.1046T>C, XM_017013160.1:c.1046T>C, XM_017013161.2:c.1001T>C, XM_017013161.1:c.1001T>C, XM_024447085.2:c.944T>C, XM_024447085.1:c.944T>C, XM_017013162.2:c.932T>C, XM_017013162.1:c.932T>C, XM_024447084.2:c.950T>C, XM_024447084.1:c.950T>C, XM_024447086.2:c.839T>C, XM_024447086.1:c.839T>C, XM_017013153.1:c.1247T>C, XM_017013155.1:c.1244T>C, NM_001363720.1:c.953T>C, NP_689841.3:p.Leu417Pro, XP_011515201.1:p.Leu351Pro, XP_016868652.1:p.Leu212Pro, XP_016868643.1:p.Leu416Pro, XP_016868645.1:p.Leu398Pro, XP_016868646.1:p.Leu379Pro, XP_016868647.1:p.Leu378Pro, XP_016868648.1:p.Leu360Pro, XP_016868649.1:p.Leu349Pro, XP_016868650.1:p.Leu334Pro, XP_024302853.1:p.Leu315Pro, XP_016868651.1:p.Leu311Pro, XP_024302852.1:p.Leu317Pro, XP_024302854.1:p.Leu280Pro, XP_016868642.1:p.Leu416Pro, XP_016868644.1:p.Leu415Pro, NP_001350649.1:p.Leu318Pro

Select item 147573569711.

rs1475735697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:100573896 (GRCh38)
8:101586124 (GRCh37)
Canonical SPDI:: NC_000008.11:100573895:A:G
Gene:: SNX31 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.100573896A>G, NC_000008.10:g.101586124A>G, NM_152628.4:c.1292T>C, NM_152628.3:c.1292T>C, XM_011516899.2:c.1094T>C, XM_011516899.1:c.1094T>C, XM_017013163.2:c.677T>C, XM_017013163.1:c.677T>C, XM_017013154.2:c.1289T>C, XM_017013154.1:c.1289T>C, XM_017013156.2:c.1235T>C, XM_017013156.1:c.1235T>C, XM_017013157.2:c.1178T>C, XM_017013157.1:c.1178T>C, XM_017013158.2:c.1175T>C, XM_017013158.1:c.1175T>C, XM_017013159.2:c.1121T>C, XM_017013159.1:c.1121T>C, XM_017013160.2:c.1088T>C, XM_017013160.1:c.1088T>C, XM_017013161.2:c.1043T>C, XM_017013161.1:c.1043T>C, XM_024447085.2:c.986T>C, XM_024447085.1:c.986T>C, XM_017013162.2:c.974T>C, XM_017013162.1:c.974T>C, XM_024447084.2:c.992T>C, XM_024447084.1:c.992T>C, XM_024447086.2:c.881T>C, XM_024447086.1:c.881T>C, XM_017013153.1:c.1289T>C, XM_017013155.1:c.1286T>C, NM_001363720.1:c.995T>C, NP_689841.3:p.Val431Ala, XP_011515201.1:p.Val365Ala, XP_016868652.1:p.Val226Ala, XP_016868643.1:p.Val430Ala, XP_016868645.1:p.Val412Ala, XP_016868646.1:p.Val393Ala, XP_016868647.1:p.Val392Ala, XP_016868648.1:p.Val374Ala, XP_016868649.1:p.Val363Ala, XP_016868650.1:p.Val348Ala, XP_024302853.1:p.Val329Ala, XP_016868651.1:p.Val325Ala, XP_024302852.1:p.Val331Ala, XP_024302854.1:p.Val294Ala, XP_016868642.1:p.Val430Ala, XP_016868644.1:p.Val429Ala, NP_001350649.1:p.Val332Ala

Select item 147458857212.

rs1474588572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:100649509 (GRCh38)
8:101661737 (GRCh37)
Canonical SPDI:: NC_000008.11:100649508:C:T
Gene:: SNX31 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000113/4 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000068/18 (TOPMED)
HGVS:: NC_000008.11:g.100649509C>T, NC_000008.10:g.101661737C>T, NM_152628.4:c.6G>A, NM_152628.3:c.6G>A, XM_017013154.2:c.6G>A, XM_017013154.1:c.6G>A, XM_017013156.2:c.6G>A, XM_017013156.1:c.6G>A, XM_017013157.2:c.6G>A, XM_017013157.1:c.6G>A, XM_017013158.2:c.6G>A, XM_017013158.1:c.6G>A, XM_017013159.2:c.6G>A, XM_017013159.1:c.6G>A, XM_017013160.2:c.6G>A, XM_017013160.1:c.6G>A, XM_017013161.2:c.6G>A, XM_017013161.1:c.6G>A, XM_024447085.2:c.6G>A, XM_024447085.1:c.6G>A, XM_017013162.2:c.6G>A, XM_017013162.1:c.6G>A, XM_017013153.1:c.6G>A, XM_017013155.1:c.6G>A, XM_047421413.1:c.6G>A, XM_017013164.1:c.6G>A, XM_017013165.1:c.6G>A

Select item 147315845813.

rs1473158458 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:100612050 (GRCh38)
8:101624278 (GRCh37)
Canonical SPDI:: NC_000008.11:100612049:A:T
Gene:: SNX31 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100612050A>T, NC_000008.10:g.101624278A>T, NM_152628.4:c.561T>A, NM_152628.3:c.561T>A, XM_011516899.2:c.363T>A, XM_011516899.1:c.363T>A, XM_017013163.2:c.-55T>A, XM_017013163.1:c.-55T>A, XM_017013154.2:c.561T>A, XM_017013154.1:c.561T>A, XM_017013156.2:c.561T>A, XM_017013156.1:c.561T>A, XM_017013157.2:c.561T>A, XM_017013157.1:c.561T>A, XM_017013158.2:c.561T>A, XM_017013158.1:c.561T>A, XM_017013159.2:c.561T>A, XM_017013159.1:c.561T>A, XM_017013160.2:c.561T>A, XM_017013160.1:c.561T>A, XM_017013162.2:c.561T>A, XM_017013162.1:c.561T>A, XM_024447084.2:c.264T>A, XM_024447084.1:c.264T>A, XM_024447086.2:c.264T>A, XM_024447086.1:c.264T>A, XM_017013153.1:c.561T>A, XM_017013155.1:c.561T>A, NM_001363720.1:c.264T>A, XM_047421413.1:c.561T>A, XM_017013164.1:c.561T>A, XM_017013165.1:c.561T>A

Select item 146860490714.

rs1468604907 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:100612077 (GRCh38)
8:101624305 (GRCh37)
Canonical SPDI:: NC_000008.11:100612076:T:C,NC_000008.11:100612076:T:G
Gene:: SNX31 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.100612077T>C, NC_000008.11:g.100612077T>G, NC_000008.10:g.101624305T>C, NC_000008.10:g.101624305T>G, NM_152628.4:c.534A>G, NM_152628.4:c.534A>C, NM_152628.3:c.534A>G, NM_152628.3:c.534A>C, XM_011516899.2:c.336A>G, XM_011516899.2:c.336A>C, XM_011516899.1:c.336A>G, XM_011516899.1:c.336A>C, XM_017013163.2:c.-82A>G, XM_017013163.2:c.-82A>C, XM_017013163.1:c.-82A>G, XM_017013163.1:c.-82A>C, XM_017013154.2:c.534A>G, XM_017013154.2:c.534A>C, XM_017013154.1:c.534A>G, XM_017013154.1:c.534A>C, XM_017013156.2:c.534A>G, XM_017013156.2:c.534A>C, XM_017013156.1:c.534A>G, XM_017013156.1:c.534A>C, XM_017013157.2:c.534A>G, XM_017013157.2:c.534A>C, XM_017013157.1:c.534A>G, XM_017013157.1:c.534A>C, XM_017013158.2:c.534A>G, XM_017013158.2:c.534A>C, XM_017013158.1:c.534A>G, XM_017013158.1:c.534A>C, XM_017013159.2:c.534A>G, XM_017013159.2:c.534A>C, XM_017013159.1:c.534A>G, XM_017013159.1:c.534A>C, XM_017013160.2:c.534A>G, XM_017013160.2:c.534A>C, XM_017013160.1:c.534A>G, XM_017013160.1:c.534A>C, XM_017013162.2:c.534A>G, XM_017013162.2:c.534A>C, XM_017013162.1:c.534A>G, XM_017013162.1:c.534A>C, XM_024447084.2:c.237A>G, XM_024447084.2:c.237A>C, XM_024447084.1:c.237A>G, XM_024447084.1:c.237A>C, XM_024447086.2:c.237A>G, XM_024447086.2:c.237A>C, XM_024447086.1:c.237A>G, XM_024447086.1:c.237A>C, XM_017013153.1:c.534A>G, XM_017013153.1:c.534A>C, XM_017013155.1:c.534A>G, XM_017013155.1:c.534A>C, NM_001363720.1:c.237A>G, NM_001363720.1:c.237A>C, XM_047421413.1:c.534A>G, XM_047421413.1:c.534A>C, XM_017013164.1:c.534A>G, XM_017013164.1:c.534A>C, XM_017013165.1:c.534A>G, XM_017013165.1:c.534A>C, NP_689841.3:p.Lys178Asn, XP_011515201.1:p.Lys112Asn, XP_016868643.1:p.Lys178Asn, XP_016868645.1:p.Lys178Asn, XP_016868646.1:p.Lys178Asn, XP_016868647.1:p.Lys178Asn, XP_016868648.1:p.Lys178Asn, XP_016868649.1:p.Lys178Asn, XP_016868651.1:p.Lys178Asn, XP_024302852.1:p.Lys79Asn, XP_024302854.1:p.Lys79Asn, XP_016868642.1:p.Lys178Asn, XP_016868644.1:p.Lys178Asn, NP_001350649.1:p.Lys79Asn, XP_047277369.1:p.Lys178Asn, XP_016868653.1:p.Lys178Asn, XP_016868654.1:p.Lys178Asn

Select item 146844774615.

rs1468447746 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:100596732 (GRCh38)
8:101608960 (GRCh37)
Canonical SPDI:: NC_000008.11:100596731:A:G
Gene:: SNX31 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.100596732A>G, NC_000008.10:g.101608960A>G, NM_152628.4:c.885T>C, NM_152628.3:c.885T>C, XM_011516899.2:c.687T>C, XM_011516899.1:c.687T>C, XM_017013163.2:c.270T>C, XM_017013163.1:c.270T>C, XM_017013154.2:c.885T>C, XM_017013154.1:c.885T>C, XM_017013156.2:c.885T>C, XM_017013156.1:c.885T>C, XM_017013157.2:c.885T>C, XM_017013157.1:c.885T>C, XM_017013158.2:c.885T>C, XM_017013158.1:c.885T>C, XM_017013159.2:c.885T>C, XM_017013159.1:c.885T>C, XM_017013161.2:c.636T>C, XM_017013161.1:c.636T>C, XM_024447085.2:c.636T>C, XM_024447085.1:c.636T>C, XM_024447084.2:c.588T>C, XM_024447084.1:c.588T>C, XM_024447086.2:c.588T>C, XM_024447086.1:c.588T>C, XM_017013153.1:c.885T>C, XM_017013155.1:c.885T>C, NM_001363720.1:c.588T>C

Select item 146703840416.

rs1467038404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:100617676 (GRCh38)
8:101629904 (GRCh37)
Canonical SPDI:: NC_000008.11:100617675:C:A
Gene:: SNX31 (Varview), LOC105375671 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,stop_gained,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100617676C>A, NC_000008.10:g.101629904C>A, NM_152628.4:c.376G>T, NM_152628.3:c.376G>T, XM_011516899.2:c.178G>T, XM_011516899.1:c.178G>T, XM_017013163.2:c.-240G>T, XM_017013163.1:c.-240G>T, XM_017013154.2:c.376G>T, XM_017013154.1:c.376G>T, XM_017013156.2:c.376G>T, XM_017013156.1:c.376G>T, XM_017013157.2:c.376G>T, XM_017013157.1:c.376G>T, XM_017013158.2:c.376G>T, XM_017013158.1:c.376G>T, XM_017013159.2:c.376G>T, XM_017013159.1:c.376G>T, XM_017013160.2:c.376G>T, XM_017013160.1:c.376G>T, XM_017013161.2:c.376G>T, XM_017013161.1:c.376G>T, XM_024447085.2:c.376G>T, XM_024447085.1:c.376G>T, XM_017013162.2:c.376G>T, XM_017013162.1:c.376G>T, XM_024447084.2:c.79G>T, XM_024447084.1:c.79G>T, XM_024447086.2:c.79G>T, XM_024447086.1:c.79G>T, XM_017013153.1:c.376G>T, XM_017013155.1:c.376G>T, NM_001363720.1:c.79G>T, XM_047421413.1:c.376G>T, XM_017013164.1:c.376G>T, XM_017013165.1:c.376G>T, NP_689841.3:p.Glu126Ter, XP_011515201.1:p.Glu60Ter, XP_016868643.1:p.Glu126Ter, XP_016868645.1:p.Glu126Ter, XP_016868646.1:p.Glu126Ter, XP_016868647.1:p.Glu126Ter, XP_016868648.1:p.Glu126Ter, XP_016868649.1:p.Glu126Ter, XP_016868650.1:p.Glu126Ter, XP_024302853.1:p.Glu126Ter, XP_016868651.1:p.Glu126Ter, XP_024302852.1:p.Glu27Ter, XP_024302854.1:p.Glu27Ter, XP_016868642.1:p.Glu126Ter, XP_016868644.1:p.Glu126Ter, NP_001350649.1:p.Glu27Ter, XP_047277369.1:p.Glu126Ter, XP_016868653.1:p.Glu126Ter, XP_016868654.1:p.Glu126Ter

Select item 145979746317.

rs1459797463 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:100596645 (GRCh38)
8:101608873 (GRCh37)
Canonical SPDI:: NC_000008.11:100596644:A:G
Gene:: SNX31 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100596645A>G, NC_000008.10:g.101608873A>G, NM_152628.4:c.972T>C, NM_152628.3:c.972T>C, XM_011516899.2:c.774T>C, XM_011516899.1:c.774T>C, XM_017013163.2:c.357T>C, XM_017013163.1:c.357T>C, XM_017013154.2:c.972T>C, XM_017013154.1:c.972T>C, XM_017013156.2:c.972T>C, XM_017013156.1:c.972T>C, XM_017013157.2:c.972T>C, XM_017013157.1:c.972T>C, XM_017013158.2:c.972T>C, XM_017013158.1:c.972T>C, XM_017013159.2:c.972T>C, XM_017013159.1:c.972T>C, XM_017013161.2:c.723T>C, XM_017013161.1:c.723T>C, XM_024447085.2:c.723T>C, XM_024447085.1:c.723T>C, XM_024447084.2:c.675T>C, XM_024447084.1:c.675T>C, XM_024447086.2:c.675T>C, XM_024447086.1:c.675T>C, XM_017013153.1:c.972T>C, XM_017013155.1:c.972T>C, NM_001363720.1:c.675T>C

Select item 145847448018.

rs1458474480 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:100600403 (GRCh38)
8:101612631 (GRCh37)
Canonical SPDI:: NC_000008.11:100600402:T:C
Gene:: SNX31 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100600403T>C, NC_000008.10:g.101612631T>C, NM_152628.4:c.720A>G, NM_152628.3:c.720A>G, XM_011516899.2:c.522A>G, XM_011516899.1:c.522A>G, XM_017013163.2:c.105A>G, XM_017013163.1:c.105A>G, XM_017013154.2:c.720A>G, XM_017013154.1:c.720A>G, XM_017013156.2:c.720A>G, XM_017013156.1:c.720A>G, XM_017013157.2:c.720A>G, XM_017013157.1:c.720A>G, XM_017013158.2:c.720A>G, XM_017013158.1:c.720A>G, XM_017013159.2:c.720A>G, XM_017013159.1:c.720A>G, XM_017013160.2:c.720A>G, XM_017013160.1:c.720A>G, XM_017013161.2:c.471A>G, XM_017013161.1:c.471A>G, XM_024447085.2:c.471A>G, XM_024447085.1:c.471A>G, XM_017013162.2:c.720A>G, XM_017013162.1:c.720A>G, XM_024447084.2:c.423A>G, XM_024447084.1:c.423A>G, XM_024447086.2:c.423A>G, XM_024447086.1:c.423A>G, XM_017013153.1:c.720A>G, XM_017013155.1:c.720A>G, NM_001363720.1:c.423A>G, XM_047421413.1:c.650A>G, XM_017013164.1:c.650A>G, XM_017013165.1:c.650A>G, XP_047277369.1:p.His217Arg, XP_016868653.1:p.His217Arg, XP_016868654.1:p.His217Arg

Select item 145598706919.

rs1455987069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:100636006 (GRCh38)
8:101648234 (GRCh37)
Canonical SPDI:: NC_000008.11:100636005:C:G,NC_000008.11:100636005:C:T
Gene:: SNX31 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000008.11:g.100636006C>G, NC_000008.11:g.100636006C>T, NC_000008.10:g.101648234C>G, NC_000008.10:g.101648234C>T, NM_152628.4:c.147G>C, NM_152628.4:c.147G>A, NM_152628.3:c.147G>C, NM_152628.3:c.147G>A, XM_011516899.2:c.-52G>C, XM_011516899.2:c.-52G>A, XM_011516899.1:c.-52G>C, XM_011516899.1:c.-52G>A, XM_017013154.2:c.147G>C, XM_017013154.2:c.147G>A, XM_017013154.1:c.147G>C, XM_017013154.1:c.147G>A, XM_017013156.2:c.147G>C, XM_017013156.2:c.147G>A, XM_017013156.1:c.147G>C, XM_017013156.1:c.147G>A, XM_017013157.2:c.147G>C, XM_017013157.2:c.147G>A, XM_017013157.1:c.147G>C, XM_017013157.1:c.147G>A, XM_017013158.2:c.147G>C, XM_017013158.2:c.147G>A, XM_017013158.1:c.147G>C, XM_017013158.1:c.147G>A, XM_017013159.2:c.147G>C, XM_017013159.2:c.147G>A, XM_017013159.1:c.147G>C, XM_017013159.1:c.147G>A, XM_017013160.2:c.147G>C, XM_017013160.2:c.147G>A, XM_017013160.1:c.147G>C, XM_017013160.1:c.147G>A, XM_017013161.2:c.147G>C, XM_017013161.2:c.147G>A, XM_017013161.1:c.147G>C, XM_017013161.1:c.147G>A, XM_024447085.2:c.147G>C, XM_024447085.2:c.147G>A, XM_024447085.1:c.147G>C, XM_024447085.1:c.147G>A, XM_017013162.2:c.147G>C, XM_017013162.2:c.147G>A, XM_017013162.1:c.147G>C, XM_017013162.1:c.147G>A, XM_017013153.1:c.147G>C, XM_017013153.1:c.147G>A, XM_017013155.1:c.147G>C, XM_017013155.1:c.147G>A, XM_047421413.1:c.147G>C, XM_047421413.1:c.147G>A, XM_017013164.1:c.147G>C, XM_017013164.1:c.147G>A, XM_017013165.1:c.147G>C, XM_017013165.1:c.147G>A, NP_689841.3:p.Arg49Ser, XP_016868643.1:p.Arg49Ser, XP_016868645.1:p.Arg49Ser, XP_016868646.1:p.Arg49Ser, XP_016868647.1:p.Arg49Ser, XP_016868648.1:p.Arg49Ser, XP_016868649.1:p.Arg49Ser, XP_016868650.1:p.Arg49Ser, XP_024302853.1:p.Arg49Ser, XP_016868651.1:p.Arg49Ser, XP_016868642.1:p.Arg49Ser, XP_016868644.1:p.Arg49Ser, XP_047277369.1:p.Arg49Ser, XP_016868653.1:p.Arg49Ser, XP_016868654.1:p.Arg49Ser

Select item 145561778820.

rs1455617788 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:100649470 (GRCh38)
8:101661698 (GRCh37)
Canonical SPDI:: NC_000008.11:100649469:G:T
Gene:: SNX31 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000008.11:g.100649470G>T, NC_000008.10:g.101661698G>T, NM_152628.4:c.45C>A, NM_152628.3:c.45C>A, XM_017013154.2:c.45C>A, XM_017013154.1:c.45C>A, XM_017013156.2:c.45C>A, XM_017013156.1:c.45C>A, XM_017013157.2:c.45C>A, XM_017013157.1:c.45C>A, XM_017013158.2:c.45C>A, XM_017013158.1:c.45C>A, XM_017013159.2:c.45C>A, XM_017013159.1:c.45C>A, XM_017013160.2:c.45C>A, XM_017013160.1:c.45C>A, XM_017013161.2:c.45C>A, XM_017013161.1:c.45C>A, XM_024447085.2:c.45C>A, XM_024447085.1:c.45C>A, XM_017013162.2:c.45C>A, XM_017013162.1:c.45C>A, XM_017013153.1:c.45C>A, XM_017013155.1:c.45C>A, XM_047421413.1:c.45C>A, XM_017013164.1:c.45C>A, XM_017013165.1:c.45C>A, NP_689841.3:p.Asp15Glu, XP_016868643.1:p.Asp15Glu, XP_016868645.1:p.Asp15Glu, XP_016868646.1:p.Asp15Glu, XP_016868647.1:p.Asp15Glu, XP_016868648.1:p.Asp15Glu, XP_016868649.1:p.Asp15Glu, XP_016868650.1:p.Asp15Glu, XP_024302853.1:p.Asp15Glu, XP_016868651.1:p.Asp15Glu, XP_016868642.1:p.Asp15Glu, XP_016868644.1:p.Asp15Glu, XP_047277369.1:p.Asp15Glu, XP_016868653.1:p.Asp15Glu, XP_016868654.1:p.Asp15Glu

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