SNP Links for Protein (Select 7661890) - SNP

Links from Protein

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Select item 14892903511.

rs1489290351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:27375644 (GRCh38)
2:27598511 (GRCh37)
Canonical SPDI:: NC_000002.12:27375643:G:T
Gene:: SNX17 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27375644G>T, NC_000002.11:g.27598511G>T, NG_028219.1:g.10101C>A, NM_014748.4:c.913G>T, NM_014748.3:c.913G>T, XM_011533203.3:c.271G>T, XM_011533203.2:c.271G>T, XM_011533203.1:c.271G>T, NR_049782.2:n.1166G>T, NR_049782.1:n.1286G>T, NR_049783.2:n.1139G>T, NR_049783.1:n.1259G>T, NR_049784.2:n.1115G>T, NR_049784.1:n.1235G>T, NR_049785.2:n.1048G>T, NR_049785.1:n.1168G>T, NM_001267059.2:c.877G>T, NM_001267059.1:c.877G>T, NR_049786.2:n.997G>T, NR_049786.1:n.1117G>T, NM_001267060.2:c.838G>T, NM_001267060.1:c.838G>T, NM_001267061.2:c.853G>T, NM_001267061.1:c.853G>T, NR_049787.2:n.848G>T, NR_049787.1:n.968G>T, NR_049788.2:n.778G>T, NR_049788.1:n.898G>T, NP_055563.1:p.Gly305Cys, XP_011531505.1:p.Gly91Cys, NP_001253988.1:p.Gly293Cys, NP_001253989.1:p.Gly280Cys, NP_001253990.1:p.Gly285Cys

Select item 14856625902.

rs1485662590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27375705 (GRCh38)
2:27598572 (GRCh37)
Canonical SPDI:: NC_000002.12:27375704:C:T
Gene:: SNX17 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_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_000002.12:g.27375705C>T, NC_000002.11:g.27598572C>T, NG_028219.1:g.10040G>A, NM_014748.4:c.974C>T, NM_014748.3:c.974C>T, XM_011533203.3:c.332C>T, XM_011533203.2:c.332C>T, XM_011533203.1:c.332C>T, NR_049782.2:n.1227C>T, NR_049782.1:n.1347C>T, NR_049783.2:n.1200C>T, NR_049783.1:n.1320C>T, NR_049784.2:n.1176C>T, NR_049784.1:n.1296C>T, NR_049785.2:n.1109C>T, NR_049785.1:n.1229C>T, NM_001267059.2:c.938C>T, NM_001267059.1:c.938C>T, NR_049786.2:n.1058C>T, NR_049786.1:n.1178C>T, NM_001267060.2:c.899C>T, NM_001267060.1:c.899C>T, NM_001267061.2:c.914C>T, NM_001267061.1:c.914C>T, NR_049787.2:n.909C>T, NR_049787.1:n.1029C>T, NR_049788.2:n.839C>T, NR_049788.1:n.959C>T, NP_055563.1:p.Ser325Phe, XP_011531505.1:p.Ser111Phe, NP_001253988.1:p.Ser313Phe, NP_001253989.1:p.Ser300Phe, NP_001253990.1:p.Ser305Phe

Select item 14845068843.

rs1484506884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27376646 (GRCh38)
2:27599513 (GRCh37)
Canonical SPDI:: NC_000002.12:27376645:C:G
Gene:: SNX17 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.27376646C>G, NC_000002.11:g.27599513C>G, NG_028219.1:g.9099G>C, NM_014748.4:c.1340C>G, NM_014748.3:c.1340C>G, XM_011533203.3:c.698C>G, XM_011533203.2:c.698C>G, XM_011533203.1:c.698C>G, NR_049782.2:n.1593C>G, NR_049782.1:n.1713C>G, NR_049783.2:n.1566C>G, NR_049783.1:n.1686C>G, NR_049784.2:n.1542C>G, NR_049784.1:n.1662C>G, NR_049785.2:n.1475C>G, NR_049785.1:n.1595C>G, NM_001267059.2:c.1304C>G, NM_001267059.1:c.1304C>G, NR_049786.2:n.1424C>G, NR_049786.1:n.1544C>G, NM_001267060.2:c.1265C>G, NM_001267060.1:c.1265C>G, NM_001267061.2:c.1280C>G, NM_001267061.1:c.1280C>G, NR_049787.2:n.1275C>G, NR_049787.1:n.1395C>G, NR_049788.2:n.1205C>G, NR_049788.1:n.1325C>G, NP_055563.1:p.Pro447Arg, XP_011531505.1:p.Pro233Arg, NP_001253988.1:p.Pro435Arg, NP_001253989.1:p.Pro422Arg, NP_001253990.1:p.Pro427Arg

Select item 14826346184.

rs1482634618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27370760 (GRCh38)
2:27593627 (GRCh37)
Canonical SPDI:: NC_000002.12:27370759:C:T
Gene:: EIF2B4 (Varview), SNX17 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
HGVS:: NC_000002.12:g.27370760C>T, NC_000002.11:g.27593627C>T, NG_009305.1:g.4698G>A, NM_014748.4:c.17C>T, NM_014748.3:c.17C>T, XM_011533203.3:c.-508C>T, XM_011533203.2:c.-508C>T, XM_011533203.1:c.-508C>T, NR_049782.2:n.145C>T, NR_049782.1:n.265C>T, NR_049783.2:n.145C>T, NR_049783.1:n.265C>T, NR_049784.2:n.145C>T, NR_049784.1:n.265C>T, NR_049785.2:n.145C>T, NR_049785.1:n.265C>T, NM_001267059.2:c.17C>T, NM_001267059.1:c.17C>T, NR_049786.2:n.145C>T, NR_049786.1:n.265C>T, NM_001267060.2:c.17C>T, NM_001267060.1:c.17C>T, NR_049787.2:n.145C>T, NR_049787.1:n.265C>T, NR_049788.2:n.145C>T, NR_049788.1:n.265C>T, NP_055563.1:p.Pro6Leu, NP_001253988.1:p.Pro6Leu, NP_001253989.1:p.Pro6Leu

Select item 14790432895.

rs1479043289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27374095 (GRCh38)
2:27596962 (GRCh37)
Canonical SPDI:: NC_000002.12:27374094:C:T
Gene:: SNX17 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_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_000002.12:g.27374095C>T, NC_000002.11:g.27596962C>T, NG_009305.1:g.1363G>A, NM_014748.4:c.443C>T, NM_014748.3:c.443C>T, XM_011533203.3:c.-200C>T, XM_011533203.2:c.-200C>T, XM_011533203.1:c.-200C>T, NR_049782.2:n.696C>T, NR_049782.1:n.816C>T, NR_049783.2:n.669C>T, NR_049783.1:n.789C>T, NR_049784.2:n.645C>T, NR_049784.1:n.765C>T, NR_049785.2:n.578C>T, NR_049785.1:n.698C>T, NM_001267059.2:c.407C>T, NM_001267059.1:c.407C>T, NR_049786.2:n.527C>T, NR_049786.1:n.647C>T, NM_001267060.2:c.368C>T, NM_001267060.1:c.368C>T, NM_001267061.2:c.383C>T, NM_001267061.1:c.383C>T, NR_049787.2:n.378C>T, NR_049787.1:n.498C>T, NR_049788.2:n.378C>T, NR_049788.1:n.498C>T, NP_055563.1:p.Ala148Val, NP_001253988.1:p.Ala136Val, NP_001253989.1:p.Ala123Val, NP_001253990.1:p.Ala128Val

Select item 14645831776.

rs1464583177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:27370794 (GRCh38)
2:27593661 (GRCh37)
Canonical SPDI:: NC_000002.12:27370793:C:A,NC_000002.12:27370793:C:T
Gene:: EIF2B4 (Varview), SNX17 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27370794C>A, NC_000002.12:g.27370794C>T, NC_000002.11:g.27593661C>A, NC_000002.11:g.27593661C>T, NG_009305.1:g.4664G>T, NG_009305.1:g.4664G>A, NM_014748.4:c.51C>A, NM_014748.4:c.51C>T, NM_014748.3:c.51C>A, NM_014748.3:c.51C>T, XM_011533203.3:c.-474C>A, XM_011533203.3:c.-474C>T, XM_011533203.2:c.-474C>A, XM_011533203.2:c.-474C>T, XM_011533203.1:c.-474C>A, XM_011533203.1:c.-474C>T, NR_049782.2:n.179C>A, NR_049782.2:n.179C>T, NR_049782.1:n.299C>A, NR_049782.1:n.299C>T, NR_049783.2:n.179C>A, NR_049783.2:n.179C>T, NR_049783.1:n.299C>A, NR_049783.1:n.299C>T, NR_049784.2:n.179C>A, NR_049784.2:n.179C>T, NR_049784.1:n.299C>A, NR_049784.1:n.299C>T, NR_049785.2:n.179C>A, NR_049785.2:n.179C>T, NR_049785.1:n.299C>A, NR_049785.1:n.299C>T, NM_001267059.2:c.51C>A, NM_001267059.2:c.51C>T, NM_001267059.1:c.51C>A, NM_001267059.1:c.51C>T, NR_049786.2:n.179C>A, NR_049786.2:n.179C>T, NR_049786.1:n.299C>A, NR_049786.1:n.299C>T, NM_001267060.2:c.51C>A, NM_001267060.2:c.51C>T, NM_001267060.1:c.51C>A, NM_001267060.1:c.51C>T, NR_049787.2:n.179C>A, NR_049787.2:n.179C>T, NR_049787.1:n.299C>A, NR_049787.1:n.299C>T, NR_049788.2:n.179C>A, NR_049788.2:n.179C>T, NR_049788.1:n.299C>A, NR_049788.1:n.299C>T

Select item 14568591437.

rs1456859143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27376344 (GRCh38)
2:27599211 (GRCh37)
Canonical SPDI:: NC_000002.12:27376343:G:A
Gene:: SNX17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000083/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.27376344G>A, NC_000002.11:g.27599211G>A, NG_028219.1:g.9401C>T, NM_014748.4:c.1214G>A, NM_014748.3:c.1214G>A, XM_011533203.3:c.572G>A, XM_011533203.2:c.572G>A, XM_011533203.1:c.572G>A, NR_049782.2:n.1467G>A, NR_049782.1:n.1587G>A, NR_049783.2:n.1440G>A, NR_049783.1:n.1560G>A, NR_049784.2:n.1416G>A, NR_049784.1:n.1536G>A, NR_049785.2:n.1349G>A, NR_049785.1:n.1469G>A, NM_001267059.2:c.1178G>A, NM_001267059.1:c.1178G>A, NR_049786.2:n.1298G>A, NR_049786.1:n.1418G>A, NM_001267060.2:c.1139G>A, NM_001267060.1:c.1139G>A, NM_001267061.2:c.1154G>A, NM_001267061.1:c.1154G>A, NR_049787.2:n.1149G>A, NR_049787.1:n.1269G>A, NR_049788.2:n.1079G>A, NR_049788.1:n.1199G>A, NP_055563.1:p.Arg405Lys, XP_011531505.1:p.Arg191Lys, NP_001253988.1:p.Arg393Lys, NP_001253989.1:p.Arg380Lys, NP_001253990.1:p.Arg385Lys

Select item 14558320128.

rs1455832012 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:27375847 (GRCh38)
2:27598714 (GRCh37)
Canonical SPDI:: NC_000002.12:27375846:T:A
Gene:: SNX17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27375847T>A, NC_000002.11:g.27598714T>A, NG_028219.1:g.9898A>T, NM_014748.4:c.980T>A, NM_014748.3:c.980T>A, XM_011533203.3:c.338T>A, XM_011533203.2:c.338T>A, XM_011533203.1:c.338T>A, NR_049782.2:n.1233T>A, NR_049782.1:n.1353T>A, NR_049783.2:n.1206T>A, NR_049783.1:n.1326T>A, NR_049784.2:n.1182T>A, NR_049784.1:n.1302T>A, NR_049785.2:n.1115T>A, NR_049785.1:n.1235T>A, NM_001267059.2:c.944T>A, NM_001267059.1:c.944T>A, NR_049786.2:n.1064T>A, NR_049786.1:n.1184T>A, NM_001267060.2:c.905T>A, NM_001267060.1:c.905T>A, NM_001267061.2:c.920T>A, NM_001267061.1:c.920T>A, NR_049787.2:n.915T>A, NR_049787.1:n.1035T>A, NR_049788.2:n.845T>A, NR_049788.1:n.965T>A, NP_055563.1:p.Val327Glu, XP_011531505.1:p.Val113Glu, NP_001253988.1:p.Val315Glu, NP_001253989.1:p.Val302Glu, NP_001253990.1:p.Val307Glu

Select item 14551320979.

rs1455132097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:27375663 (GRCh38)
2:27598530 (GRCh37)
Canonical SPDI:: NC_000002.12:27375662:G:A,NC_000002.12:27375662:G:C
Gene:: SNX17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.27375663G>A, NC_000002.12:g.27375663G>C, NC_000002.11:g.27598530G>A, NC_000002.11:g.27598530G>C, NG_028219.1:g.10082C>T, NG_028219.1:g.10082C>G, NM_014748.4:c.932G>A, NM_014748.4:c.932G>C, NM_014748.3:c.932G>A, NM_014748.3:c.932G>C, XM_011533203.3:c.290G>A, XM_011533203.3:c.290G>C, XM_011533203.2:c.290G>A, XM_011533203.2:c.290G>C, XM_011533203.1:c.290G>A, XM_011533203.1:c.290G>C, NR_049782.2:n.1185G>A, NR_049782.2:n.1185G>C, NR_049782.1:n.1305G>A, NR_049782.1:n.1305G>C, NR_049783.2:n.1158G>A, NR_049783.2:n.1158G>C, NR_049783.1:n.1278G>A, NR_049783.1:n.1278G>C, NR_049784.2:n.1134G>A, NR_049784.2:n.1134G>C, NR_049784.1:n.1254G>A, NR_049784.1:n.1254G>C, NR_049785.2:n.1067G>A, NR_049785.2:n.1067G>C, NR_049785.1:n.1187G>A, NR_049785.1:n.1187G>C, NM_001267059.2:c.896G>A, NM_001267059.2:c.896G>C, NM_001267059.1:c.896G>A, NM_001267059.1:c.896G>C, NR_049786.2:n.1016G>A, NR_049786.2:n.1016G>C, NR_049786.1:n.1136G>A, NR_049786.1:n.1136G>C, NM_001267060.2:c.857G>A, NM_001267060.2:c.857G>C, NM_001267060.1:c.857G>A, NM_001267060.1:c.857G>C, NM_001267061.2:c.872G>A, NM_001267061.2:c.872G>C, NM_001267061.1:c.872G>A, NM_001267061.1:c.872G>C, NR_049787.2:n.867G>A, NR_049787.2:n.867G>C, NR_049787.1:n.987G>A, NR_049787.1:n.987G>C, NR_049788.2:n.797G>A, NR_049788.2:n.797G>C, NR_049788.1:n.917G>A, NR_049788.1:n.917G>C, NP_055563.1:p.Gly311Asp, NP_055563.1:p.Gly311Ala, XP_011531505.1:p.Gly97Asp, XP_011531505.1:p.Gly97Ala, NP_001253988.1:p.Gly299Asp, NP_001253988.1:p.Gly299Ala, NP_001253989.1:p.Gly286Asp, NP_001253989.1:p.Gly286Ala, NP_001253990.1:p.Gly291Asp, NP_001253990.1:p.Gly291Ala

Select item 145312220710.

rs1453122207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27370799 (GRCh38)
2:27593666 (GRCh37)
Canonical SPDI:: NC_000002.12:27370798:C:G
Gene:: EIF2B4 (Varview), SNX17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27370799C>G, NC_000002.11:g.27593666C>G, NG_009305.1:g.4659G>C, NM_014748.4:c.56C>G, NM_014748.3:c.56C>G, XM_011533203.3:c.-469C>G, XM_011533203.2:c.-469C>G, XM_011533203.1:c.-469C>G, NR_049782.2:n.184C>G, NR_049782.1:n.304C>G, NR_049783.2:n.184C>G, NR_049783.1:n.304C>G, NR_049784.2:n.184C>G, NR_049784.1:n.304C>G, NR_049785.2:n.184C>G, NR_049785.1:n.304C>G, NM_001267059.2:c.56C>G, NM_001267059.1:c.56C>G, NR_049786.2:n.184C>G, NR_049786.1:n.304C>G, NM_001267060.2:c.56C>G, NM_001267060.1:c.56C>G, NR_049787.2:n.184C>G, NR_049787.1:n.304C>G, NR_049788.2:n.184C>G, NR_049788.1:n.304C>G, NP_055563.1:p.Ala19Gly, NP_001253988.1:p.Ala19Gly, NP_001253989.1:p.Ala19Gly

Select item 145294192911.

rs1452941929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27375106 (GRCh38)
2:27597973 (GRCh37)
Canonical SPDI:: NC_000002.12:27375105:C:T
Gene:: SNX17 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.27375106C>T, NC_000002.11:g.27597973C>T, NG_009305.1:g.352G>A, NM_014748.4:c.727C>T, NM_014748.3:c.727C>T, XM_011533203.3:c.85C>T, XM_011533203.2:c.85C>T, XM_011533203.1:c.85C>T, NR_049782.2:n.980C>T, NR_049782.1:n.1100C>T, NR_049783.2:n.953C>T, NR_049783.1:n.1073C>T, NR_049784.2:n.929C>T, NR_049784.1:n.1049C>T, NR_049785.2:n.862C>T, NR_049785.1:n.982C>T, NM_001267059.2:c.691C>T, NM_001267059.1:c.691C>T, NR_049786.2:n.811C>T, NR_049786.1:n.931C>T, NM_001267060.2:c.652C>T, NM_001267060.1:c.652C>T, NM_001267061.2:c.667C>T, NM_001267061.1:c.667C>T, NR_049787.2:n.662C>T, NR_049787.1:n.782C>T, NR_049788.2:n.592C>T, NR_049788.1:n.712C>T, NP_055563.1:p.Gln243Ter, XP_011531505.1:p.Gln29Ter, NP_001253988.1:p.Gln231Ter, NP_001253989.1:p.Gln218Ter, NP_001253990.1:p.Gln223Ter

Select item 144872817312.

rs1448728173 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:27374710 (GRCh38)
2:27597577 (GRCh37)
Canonical SPDI:: NC_000002.12:27374709:T:A,NC_000002.12:27374709:T:C
Gene:: SNX17 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00011/2 (ALFA)
C=0.00004/1 (TOMMO)
C=0.00045/2 (Estonian)
HGVS:: NC_000002.12:g.27374710T>A, NC_000002.12:g.27374710T>C, NC_000002.11:g.27597577T>A, NC_000002.11:g.27597577T>C, NG_009305.1:g.748A>T, NG_009305.1:g.748A>G, NM_014748.4:c.633T>A, NM_014748.4:c.633T>C, NM_014748.3:c.633T>A, NM_014748.3:c.633T>C, XM_011533203.3:c.-10T>A, XM_011533203.3:c.-10T>C, XM_011533203.2:c.-10T>A, XM_011533203.2:c.-10T>C, XM_011533203.1:c.-10T>A, XM_011533203.1:c.-10T>C, NR_049782.2:n.886T>A, NR_049782.2:n.886T>C, NR_049782.1:n.1006T>A, NR_049782.1:n.1006T>C, NR_049783.2:n.859T>A, NR_049783.2:n.859T>C, NR_049783.1:n.979T>A, NR_049783.1:n.979T>C, NR_049784.2:n.835T>A, NR_049784.2:n.835T>C, NR_049784.1:n.955T>A, NR_049784.1:n.955T>C, NR_049785.2:n.768T>A, NR_049785.2:n.768T>C, NR_049785.1:n.888T>A, NR_049785.1:n.888T>C, NM_001267059.2:c.597T>A, NM_001267059.2:c.597T>C, NM_001267059.1:c.597T>A, NM_001267059.1:c.597T>C, NR_049786.2:n.717T>A, NR_049786.2:n.717T>C, NR_049786.1:n.837T>A, NR_049786.1:n.837T>C, NM_001267060.2:c.558T>A, NM_001267060.2:c.558T>C, NM_001267060.1:c.558T>A, NM_001267060.1:c.558T>C, NM_001267061.2:c.573T>A, NM_001267061.2:c.573T>C, NM_001267061.1:c.573T>A, NM_001267061.1:c.573T>C, NR_049787.2:n.568T>A, NR_049787.2:n.568T>C, NR_049787.1:n.688T>A, NR_049787.1:n.688T>C, NP_055563.1:p.Asp211Glu, NP_001253988.1:p.Asp199Glu, NP_001253989.1:p.Asp186Glu, NP_001253990.1:p.Asp191Glu

Select item 144862403013.

rs1448624030 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27372659 (GRCh38)
2:27595526 (GRCh37)
Canonical SPDI:: NC_000002.12:27372658:T:C
Gene:: SNX17 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27372659T>C, NC_000002.11:g.27595526T>C, NG_009305.1:g.2799A>G, NM_014748.4:c.175T>C, NM_014748.3:c.175T>C, NR_049782.2:n.428T>C, NR_049782.1:n.548T>C, NR_049783.2:n.327T>C, NR_049783.1:n.447T>C, NR_049784.2:n.303T>C, NR_049784.1:n.423T>C, NM_001267059.2:c.139T>C, NM_001267059.1:c.139T>C, NM_001267060.2:c.100T>C, NM_001267060.1:c.100T>C, NM_001267061.2:c.115T>C, NM_001267061.1:c.115T>C, NP_055563.1:p.Phe59Leu, NP_001253988.1:p.Phe47Leu, NP_001253989.1:p.Phe34Leu, NP_001253990.1:p.Phe39Leu

Select item 144538241114.

rs1445382411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27373896 (GRCh38)
2:27596763 (GRCh37)
Canonical SPDI:: NC_000002.12:27373895:G:A
Gene:: SNX17 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27373896G>A, NC_000002.11:g.27596763G>A, NG_009305.1:g.1562C>T, NM_014748.4:c.357G>A, NM_014748.3:c.357G>A, XM_011533203.3:c.-286G>A, XM_011533203.2:c.-286G>A, XM_011533203.1:c.-286G>A, NR_049782.2:n.610G>A, NR_049782.1:n.730G>A, NR_049783.2:n.583G>A, NR_049783.1:n.703G>A, NR_049784.2:n.559G>A, NR_049784.1:n.679G>A, NR_049785.2:n.492G>A, NR_049785.1:n.612G>A, NM_001267059.2:c.321G>A, NM_001267059.1:c.321G>A, NR_049786.2:n.441G>A, NR_049786.1:n.561G>A, NM_001267060.2:c.282G>A, NM_001267060.1:c.282G>A, NM_001267061.2:c.297G>A, NM_001267061.1:c.297G>A, NR_049787.2:n.292G>A, NR_049787.1:n.412G>A, NR_049788.2:n.292G>A, NR_049788.1:n.412G>A

Select item 143837550115.

rs1438375501 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:27376314 (GRCh38)
2:27599181 (GRCh37)
Canonical SPDI:: NC_000002.12:27376313:T:A
Gene:: SNX17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.27376314T>A, NC_000002.11:g.27599181T>A, NG_028219.1:g.9431A>T, NM_014748.4:c.1184T>A, NM_014748.3:c.1184T>A, XM_011533203.3:c.542T>A, XM_011533203.2:c.542T>A, XM_011533203.1:c.542T>A, NR_049782.2:n.1437T>A, NR_049782.1:n.1557T>A, NR_049783.2:n.1410T>A, NR_049783.1:n.1530T>A, NR_049784.2:n.1386T>A, NR_049784.1:n.1506T>A, NR_049785.2:n.1319T>A, NR_049785.1:n.1439T>A, NM_001267059.2:c.1148T>A, NM_001267059.1:c.1148T>A, NR_049786.2:n.1268T>A, NR_049786.1:n.1388T>A, NM_001267060.2:c.1109T>A, NM_001267060.1:c.1109T>A, NM_001267061.2:c.1124T>A, NM_001267061.1:c.1124T>A, NR_049787.2:n.1119T>A, NR_049787.1:n.1239T>A, NR_049788.2:n.1049T>A, NR_049788.1:n.1169T>A, NP_055563.1:p.Met395Lys, XP_011531505.1:p.Met181Lys, NP_001253988.1:p.Met383Lys, NP_001253989.1:p.Met370Lys, NP_001253990.1:p.Met375Lys

Select item 143798765216.

rs1437987652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27375118 (GRCh38)
2:27597985 (GRCh37)
Canonical SPDI:: NC_000002.12:27375117:C:T
Gene:: SNX17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.27375118C>T, NC_000002.11:g.27597985C>T, NG_009305.1:g.340G>A, NM_014748.4:c.739C>T, NM_014748.3:c.739C>T, XM_011533203.3:c.97C>T, XM_011533203.2:c.97C>T, XM_011533203.1:c.97C>T, NR_049782.2:n.992C>T, NR_049782.1:n.1112C>T, NR_049783.2:n.965C>T, NR_049783.1:n.1085C>T, NR_049784.2:n.941C>T, NR_049784.1:n.1061C>T, NR_049785.2:n.874C>T, NR_049785.1:n.994C>T, NM_001267059.2:c.703C>T, NM_001267059.1:c.703C>T, NR_049786.2:n.823C>T, NR_049786.1:n.943C>T, NM_001267060.2:c.664C>T, NM_001267060.1:c.664C>T, NM_001267061.2:c.679C>T, NM_001267061.1:c.679C>T, NR_049787.2:n.674C>T, NR_049787.1:n.794C>T, NR_049788.2:n.604C>T, NR_049788.1:n.724C>T, NP_055563.1:p.Leu247Phe, XP_011531505.1:p.Leu33Phe, NP_001253988.1:p.Leu235Phe, NP_001253989.1:p.Leu222Phe, NP_001253990.1:p.Leu227Phe

Select item 143716192817.

rs1437161928 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGCCG [Show Flanks]
Chromosome:: 2:27375877 (GRCh38)
2:27598745 (GRCh37)
Canonical SPDI:: NC_000002.12:27375877:AGGCCG:AGGCCGAGGCCG
Gene:: SNX17 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGGCCGAGGCCG=0./0 (ALFA)
AGGCCG=0.000007/1 (GnomAD)
AGGCCG=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.27375878_27375883dup, NC_000002.11:g.27598745_27598750dup, NG_028219.1:g.9862_9867dup, NM_014748.4:c.1011_1016dup, NM_014748.3:c.1011_1016dup, XM_011533203.3:c.369_374dup, XM_011533203.2:c.369_374dup, XM_011533203.1:c.369_374dup, NR_049782.2:n.1264_1269dup, NR_049782.1:n.1384_1389dup, NR_049783.2:n.1237_1242dup, NR_049783.1:n.1357_1362dup, NR_049784.2:n.1213_1218dup, NR_049784.1:n.1333_1338dup, NR_049785.2:n.1146_1151dup, NR_049785.1:n.1266_1271dup, NM_001267059.2:c.975_980dup, NM_001267059.1:c.975_980dup, NR_049786.2:n.1095_1100dup, NR_049786.1:n.1215_1220dup, NM_001267060.2:c.936_941dup, NM_001267060.1:c.936_941dup, NM_001267061.2:c.951_956dup, NM_001267061.1:c.951_956dup, NR_049787.2:n.946_951dup, NR_049787.1:n.1066_1071dup, NR_049788.2:n.876_881dup, NR_049788.1:n.996_1001dup, NP_055563.1:p.339RG[3], XP_011531505.1:p.125RG[3], NP_001253988.1:p.327RG[3], NP_001253989.1:p.314RG[3], NP_001253990.1:p.319RG[3]

Select item 143503945718.

rs1435039457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27373296 (GRCh38)
2:27596163 (GRCh37)
Canonical SPDI:: NC_000002.12:27373295:G:A
Gene:: SNX17 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27373296G>A, NC_000002.11:g.27596163G>A, NG_009305.1:g.2162C>T, NM_014748.4:c.306G>A, NM_014748.3:c.306G>A, XM_011533203.3:c.-337G>A, XM_011533203.2:c.-337G>A, XM_011533203.1:c.-337G>A, NR_049782.2:n.559G>A, NR_049782.1:n.679G>A, NR_049783.2:n.532G>A, NR_049783.1:n.652G>A, NR_049784.2:n.508G>A, NR_049784.1:n.628G>A, NR_049785.2:n.441G>A, NR_049785.1:n.561G>A, NM_001267059.2:c.270G>A, NM_001267059.1:c.270G>A, NR_049786.2:n.390G>A, NR_049786.1:n.510G>A, NM_001267060.2:c.231G>A, NM_001267060.1:c.231G>A, NM_001267061.2:c.246G>A, NM_001267061.1:c.246G>A, NR_049787.2:n.241G>A, NR_049787.1:n.361G>A, NR_049788.2:n.241G>A, NR_049788.1:n.361G>A

Select item 143430026319.

rs1434300263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:27371298 (GRCh38)
2:27594165 (GRCh37)
Canonical SPDI:: NC_000002.12:27371297:G:C
Gene:: EIF2B4 (Varview), SNX17 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27371298G>C, NC_000002.11:g.27594165G>C, NG_009305.1:g.4160C>G, NM_014748.4:c.93G>C, NM_014748.3:c.93G>C, XM_011533203.3:c.-432G>C, XM_011533203.2:c.-432G>C, XM_011533203.1:c.-432G>C, NR_049782.2:n.221G>C, NR_049782.1:n.341G>C, NR_049783.2:n.221G>C, NR_049783.1:n.341G>C, NR_049784.2:n.221G>C, NR_049784.1:n.341G>C, NR_049785.2:n.221G>C, NR_049785.1:n.341G>C, NM_001267059.2:c.93G>C, NM_001267059.1:c.93G>C, NR_049786.2:n.221G>C, NR_049786.1:n.341G>C, NM_001267061.2:c.33G>C, NM_001267061.1:c.33G>C

Select item 143244596420.

rs1432445964 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27376491 (GRCh38)
2:27599358 (GRCh37)
Canonical SPDI:: NC_000002.12:27376490:G:A
Gene:: SNX17 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27376491G>A, NC_000002.11:g.27599358G>A, NG_028219.1:g.9254C>T, NM_014748.4:c.1270G>A, NM_014748.3:c.1270G>A, XM_011533203.3:c.628G>A, XM_011533203.2:c.628G>A, XM_011533203.1:c.628G>A, NR_049782.2:n.1523G>A, NR_049782.1:n.1643G>A, NR_049783.2:n.1496G>A, NR_049783.1:n.1616G>A, NR_049784.2:n.1472G>A, NR_049784.1:n.1592G>A, NR_049785.2:n.1405G>A, NR_049785.1:n.1525G>A, NM_001267059.2:c.1234G>A, NM_001267059.1:c.1234G>A, NR_049786.2:n.1354G>A, NR_049786.1:n.1474G>A, NM_001267060.2:c.1195G>A, NM_001267060.1:c.1195G>A, NM_001267061.2:c.1210G>A, NM_001267061.1:c.1210G>A, NR_049787.2:n.1205G>A, NR_049787.1:n.1325G>A, NR_049788.2:n.1135G>A, NR_049788.1:n.1255G>A, NP_055563.1:p.Ala424Thr, XP_011531505.1:p.Ala210Thr, NP_001253988.1:p.Ala412Thr, NP_001253989.1:p.Ala399Thr, NP_001253990.1:p.Ala404Thr

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