SNP Links for Protein (Select 307574638) - SNP

Links from Protein

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Select item 14897327561.

rs1489732756 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:149449098 (GRCh38)
2:150305612 (GRCh37)
Canonical SPDI:: NC_000002.12:149449097:A:G
Gene:: LYPD6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.149449098A>G, NC_000002.11:g.150305612A>G, NM_194317.5:c.168A>G, NM_194317.4:c.168A>G, NM_194317.3:c.168A>G, XM_024452699.2:c.168A>G, XM_024452699.1:c.168A>G, XM_024452701.2:c.168A>G, XM_024452701.1:c.168A>G, NM_001195685.2:c.168A>G, NM_001195685.1:c.168A>G, XM_047443400.1:c.168A>G

Select item 14883264602.

rs1488326460 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:149470686 (GRCh38)
2:150327200 (GRCh37)
Canonical SPDI:: NC_000002.12:149470685:T:G
Gene:: LYPD6 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.149470686T>G, NC_000002.11:g.150327200T>G, NM_194317.5:c.352T>G, NM_194317.4:c.352T>G, NM_194317.3:c.352T>G, XM_024452699.2:c.352T>G, XM_024452699.1:c.352T>G, XM_024452701.2:c.352T>G, XM_024452701.1:c.352T>G, NM_001195685.2:c.352T>G, NM_001195685.1:c.352T>G, NP_919298.1:p.Cys118Gly, XP_024308467.1:p.Cys118Gly, XP_024308469.1:p.Cys118Gly, NP_001182614.1:p.Cys118Gly

Select item 14871241903.

rs1487124190 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:149437818 (GRCh38)
2:150294332 (GRCh37)
Canonical SPDI:: NC_000002.12:149437817:A:G
Gene:: LYPD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000002.12:g.149437818A>G, NC_000002.11:g.150294332A>G, NM_194317.5:c.110A>G, NM_194317.4:c.110A>G, NM_194317.3:c.110A>G, XM_024452699.2:c.110A>G, XM_024452699.1:c.110A>G, XM_024452701.2:c.110A>G, XM_024452701.1:c.110A>G, NM_001195685.2:c.110A>G, NM_001195685.1:c.110A>G, XM_047443400.1:c.110A>G, NP_919298.1:p.His37Arg, XP_024308467.1:p.His37Arg, XP_024308469.1:p.His37Arg, NP_001182614.1:p.His37Arg, XP_047299356.1:p.His37Arg

Select item 14840050444.

rs1484005044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:149470767 (GRCh38)
2:150327281 (GRCh37)
Canonical SPDI:: NC_000002.12:149470766:C:G
Gene:: LYPD6 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.149470767C>G, NC_000002.11:g.150327281C>G, NM_194317.5:c.433C>G, NM_194317.4:c.433C>G, NM_194317.3:c.433C>G, XM_024452699.2:c.433C>G, XM_024452699.1:c.433C>G, XM_024452701.2:c.433C>G, XM_024452701.1:c.433C>G, NM_001195685.2:c.433C>G, NM_001195685.1:c.433C>G, NP_919298.1:p.Pro145Ala, XP_024308467.1:p.Pro145Ala, XP_024308469.1:p.Pro145Ala, NP_001182614.1:p.Pro145Ala

Select item 14839332875.

rs1483933287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:149437785 (GRCh38)
2:150294299 (GRCh37)
Canonical SPDI:: NC_000002.12:149437784:G:A
Gene:: LYPD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.149437785G>A, NC_000002.11:g.150294299G>A, NM_194317.5:c.77G>A, NM_194317.4:c.77G>A, NM_194317.3:c.77G>A, XM_024452699.2:c.77G>A, XM_024452699.1:c.77G>A, XM_024452701.2:c.77G>A, XM_024452701.1:c.77G>A, NM_001195685.2:c.77G>A, NM_001195685.1:c.77G>A, XM_047443400.1:c.77G>A, NP_919298.1:p.Arg26Gln, XP_024308467.1:p.Arg26Gln, XP_024308469.1:p.Arg26Gln, NP_001182614.1:p.Arg26Gln, XP_047299356.1:p.Arg26Gln

Select item 14816754336.

rs1481675433 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:149470818 (GRCh38)
2:150327332 (GRCh37)
Canonical SPDI:: NC_000002.12:149470817:T:C
Gene:: LYPD6 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.149470818T>C, NC_000002.11:g.150327332T>C, NM_194317.5:c.484T>C, NM_194317.4:c.484T>C, NM_194317.3:c.484T>C, XM_024452699.2:c.484T>C, XM_024452699.1:c.484T>C, XM_024452701.2:c.484T>C, XM_024452701.1:c.484T>C, NM_001195685.2:c.484T>C, NM_001195685.1:c.484T>C, NP_919298.1:p.Cys162Arg, XP_024308467.1:p.Cys162Arg, XP_024308469.1:p.Cys162Arg, NP_001182614.1:p.Cys162Arg

Select item 14803658347.

rs1480365834 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTTTTT [Show Flanks]
Chromosome:: 2:149449054 (GRCh38)
2:150305569 (GRCh37)
Canonical SPDI:: NC_000002.12:149449054::TTTTTTTT
Gene:: LYPD6 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.149449054_149449055insTTTTTTTT, NC_000002.11:g.150305568_150305569insTTTTTTTT, NM_194317.5:c.124_125insTTTTTTTT, NM_194317.4:c.124_125insTTTTTTTT, NM_194317.3:c.124_125insTTTTTTTT, XM_024452699.2:c.124_125insTTTTTTTT, XM_024452699.1:c.124_125insTTTTTTTT, XM_024452701.2:c.124_125insTTTTTTTT, XM_024452701.1:c.124_125insTTTTTTTT, NM_001195685.2:c.124_125insTTTTTTTT, NM_001195685.1:c.124_125insTTTTTTTT, XM_047443400.1:c.124_125insTTTTTTTT, NP_919298.1:p.Pro42fs, XP_024308467.1:p.Pro42fs, XP_024308469.1:p.Pro42fs, NP_001182614.1:p.Pro42fs, XP_047299356.1:p.Pro42fs

Select item 14792269098.

rs1479226909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:149468714 (GRCh38)
2:150325228 (GRCh37)
Canonical SPDI:: NC_000002.12:149468713:G:A
Gene:: LYPD6 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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.149468714G>A, NC_000002.11:g.150325228G>A, NM_194317.5:c.287G>A, NM_194317.4:c.287G>A, NM_194317.3:c.287G>A, XM_024452699.2:c.287G>A, XM_024452699.1:c.287G>A, XM_024452701.2:c.287G>A, XM_024452701.1:c.287G>A, NM_001195685.2:c.287G>A, NM_001195685.1:c.287G>A, NP_919298.1:p.Cys96Tyr, XP_024308467.1:p.Cys96Tyr, XP_024308469.1:p.Cys96Tyr, NP_001182614.1:p.Cys96Tyr

Select item 14678186599.

rs1467818659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:149470801 (GRCh38)
2:150327315 (GRCh37)
Canonical SPDI:: NC_000002.12:149470800:T:C
Gene:: LYPD6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.149470801T>C, NC_000002.11:g.150327315T>C, NM_194317.5:c.467T>C, NM_194317.4:c.467T>C, NM_194317.3:c.467T>C, XM_024452699.2:c.467T>C, XM_024452699.1:c.467T>C, XM_024452701.2:c.467T>C, XM_024452701.1:c.467T>C, NM_001195685.2:c.467T>C, NM_001195685.1:c.467T>C, NP_919298.1:p.Met156Thr, XP_024308467.1:p.Met156Thr, XP_024308469.1:p.Met156Thr, NP_001182614.1:p.Met156Thr

Select item 145439111310.

rs1454391113 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:149437743 (GRCh38)
2:150294257 (GRCh37)
Canonical SPDI:: NC_000002.12:149437742:T:C
Gene:: LYPD6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.149437743T>C, NC_000002.11:g.150294257T>C, NM_194317.5:c.35T>C, NM_194317.4:c.35T>C, NM_194317.3:c.35T>C, XM_024452699.2:c.35T>C, XM_024452699.1:c.35T>C, XM_024452701.2:c.35T>C, XM_024452701.1:c.35T>C, NM_001195685.2:c.35T>C, NM_001195685.1:c.35T>C, XM_047443400.1:c.35T>C, NP_919298.1:p.Leu12Pro, XP_024308467.1:p.Leu12Pro, XP_024308469.1:p.Leu12Pro, NP_001182614.1:p.Leu12Pro, XP_047299356.1:p.Leu12Pro

Select item 145436900511.

rs1454369005 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:149470734 (GRCh38)
2:150327248 (GRCh37)
Canonical SPDI:: NC_000002.12:149470733:A:T
Gene:: LYPD6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.149470734A>T, NC_000002.11:g.150327248A>T, NM_194317.5:c.400A>T, NM_194317.4:c.400A>T, NM_194317.3:c.400A>T, XM_024452699.2:c.400A>T, XM_024452699.1:c.400A>T, XM_024452701.2:c.400A>T, XM_024452701.1:c.400A>T, NM_001195685.2:c.400A>T, NM_001195685.1:c.400A>T, NP_919298.1:p.Asn134Tyr, XP_024308467.1:p.Asn134Tyr, XP_024308469.1:p.Asn134Tyr, NP_001182614.1:p.Asn134Tyr

Select item 142712638812.

rs1427126388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:149470696 (GRCh38)
2:150327210 (GRCh37)
Canonical SPDI:: NC_000002.12:149470695:G:C
Gene:: LYPD6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.149470696G>C, NC_000002.11:g.150327210G>C, NM_194317.5:c.362G>C, NM_194317.4:c.362G>C, NM_194317.3:c.362G>C, XM_024452699.2:c.362G>C, XM_024452699.1:c.362G>C, XM_024452701.2:c.362G>C, XM_024452701.1:c.362G>C, NM_001195685.2:c.362G>C, NM_001195685.1:c.362G>C, NP_919298.1:p.Cys121Ser, XP_024308467.1:p.Cys121Ser, XP_024308469.1:p.Cys121Ser, NP_001182614.1:p.Cys121Ser

Select item 142647071913.

rs1426470719 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACG>- [Show Flanks]
Chromosome:: 2:149470761 (GRCh38)
2:150327275 (GRCh37)
Canonical SPDI:: NC_000002.12:149470757:ACGACG:ACG
Gene:: LYPD6 (Varview)
Functional Consequence:: inframe_deletion,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACGACG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.149470758ACG[1], NC_000002.11:g.150327272ACG[1], NM_194317.5:c.424ACG[1], NM_194317.4:c.424ACG[1], NM_194317.3:c.424ACG[1], XM_024452699.2:c.424ACG[1], XM_024452699.1:c.424ACG[1], XM_024452701.2:c.424ACG[1], XM_024452701.1:c.424ACG[1], NM_001195685.2:c.424ACG[1], NM_001195685.1:c.424ACG[1], NP_919298.1:p.Thr143del, XP_024308467.1:p.Thr143del, XP_024308469.1:p.Thr143del, NP_001182614.1:p.Thr143del

Select item 142451381714.

rs1424513817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:149449116 (GRCh38)
2:150305630 (GRCh37)
Canonical SPDI:: NC_000002.12:149449115:C:A
Gene:: LYPD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.149449116C>A, NC_000002.11:g.150305630C>A, NM_194317.5:c.186C>A, NM_194317.4:c.186C>A, NM_194317.3:c.186C>A, XM_024452699.2:c.186C>A, XM_024452699.1:c.186C>A, XM_024452701.2:c.186C>A, XM_024452701.1:c.186C>A, NM_001195685.2:c.186C>A, NM_001195685.1:c.186C>A, XM_047443400.1:c.186C>A, NP_919298.1:p.Asn62Lys, XP_024308467.1:p.Asn62Lys, XP_024308469.1:p.Asn62Lys, NP_001182614.1:p.Asn62Lys, XP_047299356.1:p.Asn62Lys

Select item 142079592815.

rs1420795928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:149437812 (GRCh38)
2:150294326 (GRCh37)
Canonical SPDI:: NC_000002.12:149437811:A:C
Gene:: LYPD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.149437812A>C, NC_000002.11:g.150294326A>C, NM_194317.5:c.104A>C, NM_194317.4:c.104A>C, NM_194317.3:c.104A>C, XM_024452699.2:c.104A>C, XM_024452699.1:c.104A>C, XM_024452701.2:c.104A>C, XM_024452701.1:c.104A>C, NM_001195685.2:c.104A>C, NM_001195685.1:c.104A>C, XM_047443400.1:c.104A>C, NP_919298.1:p.Tyr35Ser, XP_024308467.1:p.Tyr35Ser, XP_024308469.1:p.Tyr35Ser, NP_001182614.1:p.Tyr35Ser, XP_047299356.1:p.Tyr35Ser

Select item 142039416216.

rs1420394162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:149437746 (GRCh38)
2:150294260 (GRCh37)
Canonical SPDI:: NC_000002.12:149437745:T:C
Gene:: LYPD6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.149437746T>C, NC_000002.11:g.150294260T>C, NM_194317.5:c.38T>C, NM_194317.4:c.38T>C, NM_194317.3:c.38T>C, XM_024452699.2:c.38T>C, XM_024452699.1:c.38T>C, XM_024452701.2:c.38T>C, XM_024452701.1:c.38T>C, NM_001195685.2:c.38T>C, NM_001195685.1:c.38T>C, XM_047443400.1:c.38T>C, NP_919298.1:p.Leu13Pro, XP_024308467.1:p.Leu13Pro, XP_024308469.1:p.Leu13Pro, NP_001182614.1:p.Leu13Pro, XP_047299356.1:p.Leu13Pro

Select item 142019291517.

rs1420192915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:149449080 (GRCh38)
2:150305594 (GRCh37)
Canonical SPDI:: NC_000002.12:149449079:C:T
Gene:: LYPD6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000192/7 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.001339/6 (Estonian)
HGVS:: NC_000002.12:g.149449080C>T, NC_000002.11:g.150305594C>T, NM_194317.5:c.150C>T, NM_194317.4:c.150C>T, NM_194317.3:c.150C>T, XM_024452699.2:c.150C>T, XM_024452699.1:c.150C>T, XM_024452701.2:c.150C>T, XM_024452701.1:c.150C>T, NM_001195685.2:c.150C>T, NM_001195685.1:c.150C>T, XM_047443400.1:c.150C>T

Select item 141981662618.

rs1419816626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:149470780 (GRCh38)
2:150327294 (GRCh37)
Canonical SPDI:: NC_000002.12:149470779:C:G,NC_000002.12:149470779:C:T
Gene:: LYPD6 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.149470780C>G, NC_000002.12:g.149470780C>T, NC_000002.11:g.150327294C>G, NC_000002.11:g.150327294C>T, NM_194317.5:c.446C>G, NM_194317.5:c.446C>T, NM_194317.4:c.446C>G, NM_194317.4:c.446C>T, NM_194317.3:c.446C>G, NM_194317.3:c.446C>T, XM_024452699.2:c.446C>G, XM_024452699.2:c.446C>T, XM_024452699.1:c.446C>G, XM_024452699.1:c.446C>T, XM_024452701.2:c.446C>G, XM_024452701.2:c.446C>T, XM_024452701.1:c.446C>G, XM_024452701.1:c.446C>T, NM_001195685.2:c.446C>G, NM_001195685.2:c.446C>T, NM_001195685.1:c.446C>G, NM_001195685.1:c.446C>T, NP_919298.1:p.Thr149Arg, NP_919298.1:p.Thr149Ile, XP_024308467.1:p.Thr149Arg, XP_024308467.1:p.Thr149Ile, XP_024308469.1:p.Thr149Arg, XP_024308469.1:p.Thr149Ile, NP_001182614.1:p.Thr149Arg, NP_001182614.1:p.Thr149Ile

Select item 141975983119.

rs1419759831 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:149470784 (GRCh38)
2:150327298 (GRCh37)
Canonical SPDI:: NC_000002.12:149470783:T:C
Gene:: LYPD6 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.149470784T>C, NC_000002.11:g.150327298T>C, NM_194317.5:c.450T>C, NM_194317.4:c.450T>C, NM_194317.3:c.450T>C, XM_024452699.2:c.450T>C, XM_024452699.1:c.450T>C, XM_024452701.2:c.450T>C, XM_024452701.1:c.450T>C, NM_001195685.2:c.450T>C, NM_001195685.1:c.450T>C

Select item 141359396820.

rs1413593968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:149468680 (GRCh38)
2:150325194 (GRCh37)
Canonical SPDI:: NC_000002.12:149468679:G:A,NC_000002.12:149468679:G:C
Gene:: LYPD6 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.149468680G>A, NC_000002.12:g.149468680G>C, NC_000002.11:g.150325194G>A, NC_000002.11:g.150325194G>C, NM_194317.5:c.253G>A, NM_194317.5:c.253G>C, NM_194317.4:c.253G>A, NM_194317.4:c.253G>C, NM_194317.3:c.253G>A, NM_194317.3:c.253G>C, XM_024452699.2:c.253G>A, XM_024452699.2:c.253G>C, XM_024452699.1:c.253G>A, XM_024452699.1:c.253G>C, XM_024452701.2:c.253G>A, XM_024452701.2:c.253G>C, XM_024452701.1:c.253G>A, XM_024452701.1:c.253G>C, NM_001195685.2:c.253G>A, NM_001195685.2:c.253G>C, NM_001195685.1:c.253G>A, NM_001195685.1:c.253G>C, NP_919298.1:p.Val85Ile, NP_919298.1:p.Val85Leu, XP_024308467.1:p.Val85Ile, XP_024308467.1:p.Val85Leu, XP_024308469.1:p.Val85Ile, XP_024308469.1:p.Val85Leu, NP_001182614.1:p.Val85Ile, NP_001182614.1:p.Val85Leu

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