SNP Links for Protein (Select 55749726) - SNP

Links from Protein

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Select item 14901900581.

rs1490190058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:27791814 (GRCh38)
12:27944747 (GRCh37)
Canonical SPDI:: NC_000012.12:27791813:G:C
Gene:: KLHL42 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.27791814G>C, NC_000012.11:g.27944747G>C, XM_017019698.3:c.979G>C, XM_017019698.2:c.979G>C, XM_017019698.1:c.979G>C, NM_020782.2:c.979G>C, NM_020782.1:c.979G>C, XP_016875187.1:p.Val327Leu, NP_065833.1:p.Val327Leu

Select item 14886746322.

rs1488674632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:27781191 (GRCh38)
12:27934124 (GRCh37)
Canonical SPDI:: NC_000012.12:27781190:G:A
Gene:: KLHL42 (Varview), MANSC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.27781191G>A, NC_000012.11:g.27934124G>A, XR_931315.4:n.959G>A, XR_931315.3:n.955G>A, XR_931315.2:n.1235G>A, XR_931315.1:n.1234G>A, XM_017019698.3:c.861G>A, XM_017019698.2:c.861G>A, XM_017019698.1:c.861G>A, NM_020782.2:c.861G>A, NM_020782.1:c.861G>A, XP_016875187.1:p.Met287Ile, NP_065833.1:p.Met287Ile

Select item 14877233623.

rs1487723362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:27780844 (GRCh38)
12:27933777 (GRCh37)
Canonical SPDI:: NC_000012.12:27780843:C:T
Gene:: KLHL42 (Varview), MANSC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.27780844C>T, NC_000012.11:g.27933777C>T, XR_931315.4:n.612C>T, XR_931315.3:n.608C>T, XR_931315.2:n.888C>T, XR_931315.1:n.887C>T, XM_017019698.3:c.514C>T, XM_017019698.2:c.514C>T, XM_017019698.1:c.514C>T, NM_020782.2:c.514C>T, NM_020782.1:c.514C>T, XP_016875187.1:p.Pro172Ser, NP_065833.1:p.Pro172Ser

Select item 14868864494.

rs1486886449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:27781043 (GRCh38)
12:27933976 (GRCh37)
Canonical SPDI:: NC_000012.12:27781042:C:G
Gene:: KLHL42 (Varview), MANSC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000053/14 (TOPMED)
HGVS:: NC_000012.12:g.27781043C>G, NC_000012.11:g.27933976C>G, XR_931315.4:n.811C>G, XR_931315.3:n.807C>G, XR_931315.2:n.1087C>G, XR_931315.1:n.1086C>G, XM_017019698.3:c.713C>G, XM_017019698.2:c.713C>G, XM_017019698.1:c.713C>G, NM_020782.2:c.713C>G, NM_020782.1:c.713C>G, XP_016875187.1:p.Pro238Arg, NP_065833.1:p.Pro238Arg

Select item 14861530165.

rs1486153016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:27797991 (GRCh38)
12:27950924 (GRCh37)
Canonical SPDI:: NC_000012.12:27797990:A:T
Gene:: KLHL42 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.27797991A>T, NC_000012.11:g.27950924A>T, XM_017019698.3:c.*701A>T, XM_017019698.2:c.*701A>T, XM_017019698.1:c.*701A>T, NM_020782.2:c.1343A>T, NM_020782.1:c.1343A>T, NP_065833.1:p.Asn448Ile

Select item 14858167456.

rs1485816745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:27791833 (GRCh38)
12:27944766 (GRCh37)
Canonical SPDI:: NC_000012.12:27791832:C:T
Gene:: KLHL42 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.27791833C>T, NC_000012.11:g.27944766C>T, XM_017019698.3:c.998C>T, XM_017019698.2:c.998C>T, XM_017019698.1:c.998C>T, NM_020782.2:c.998C>T, NM_020782.1:c.998C>T, XP_016875187.1:p.Pro333Leu, NP_065833.1:p.Pro333Leu

Select item 14851044277.

rs1485104427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:27780687 (GRCh38)
12:27933620 (GRCh37)
Canonical SPDI:: NC_000012.12:27780686:G:A
Gene:: KLHL42 (Varview), MANSC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.27780687G>A, NC_000012.11:g.27933620G>A, XR_931315.4:n.455G>A, XR_931315.3:n.451G>A, XR_931315.2:n.731G>A, XR_931315.1:n.730G>A, XM_017019698.3:c.357G>A, XM_017019698.2:c.357G>A, XM_017019698.1:c.357G>A, NM_020782.2:c.357G>A, NM_020782.1:c.357G>A

Select item 14849341108.

rs1484934110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:27780379 (GRCh38)
12:27933312 (GRCh37)
Canonical SPDI:: NC_000012.12:27780378:C:T
Gene:: KLHL42 (Varview), MANSC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.27780379C>T, NC_000012.11:g.27933312C>T, XR_931315.4:n.147C>T, XR_931315.3:n.143C>T, XR_931315.2:n.423C>T, XR_931315.1:n.422C>T, XM_017019698.3:c.49C>T, XM_017019698.2:c.49C>T, XM_017019698.1:c.49C>T, NM_020782.2:c.49C>T, NM_020782.1:c.49C>T, XP_016875187.1:p.Pro17Ser, NP_065833.1:p.Pro17Ser

Select item 14847094109.

rs1484709410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:27780450 (GRCh38)
12:27933383 (GRCh37)
Canonical SPDI:: NC_000012.12:27780449:G:C
Gene:: KLHL42 (Varview), MANSC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,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=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.27780450G>C, NC_000012.11:g.27933383G>C, XR_931315.4:n.218G>C, XR_931315.3:n.214G>C, XR_931315.2:n.494G>C, XR_931315.1:n.493G>C, XM_017019698.3:c.120G>C, XM_017019698.2:c.120G>C, XM_017019698.1:c.120G>C, NM_020782.2:c.120G>C, NM_020782.1:c.120G>C, XP_016875187.1:p.Glu40Asp, NP_065833.1:p.Glu40Asp

Select item 148220185910.

rs1482201859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:27797783 (GRCh38)
12:27950716 (GRCh37)
Canonical SPDI:: NC_000012.12:27797782:G:A
Gene:: KLHL42 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_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_000012.12:g.27797783G>A, NC_000012.11:g.27950716G>A, XM_017019698.3:c.*493G>A, XM_017019698.2:c.*493G>A, XM_017019698.1:c.*493G>A, NM_020782.2:c.1135G>A, NM_020782.1:c.1135G>A, NP_065833.1:p.Val379Ile

Select item 148057809811.

rs1480578098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:27780342 (GRCh38)
12:27933275 (GRCh37)
Canonical SPDI:: NC_000012.12:27780341:G:A
Gene:: KLHL42 (Varview), MANSC4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.27780342G>A, NC_000012.11:g.27933275G>A, XR_931315.4:n.110G>A, XR_931315.3:n.106G>A, XR_931315.2:n.386G>A, XR_931315.1:n.385G>A, XM_017019698.3:c.12G>A, XM_017019698.2:c.12G>A, XM_017019698.1:c.12G>A, NM_020782.2:c.12G>A, NM_020782.1:c.12G>A

Select item 147558793012.

rs1475587930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:27780955 (GRCh38)
12:27933888 (GRCh37)
Canonical SPDI:: NC_000012.12:27780954:C:T
Gene:: KLHL42 (Varview), MANSC4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.27780955C>T, NC_000012.11:g.27933888C>T, XR_931315.4:n.723C>T, XR_931315.3:n.719C>T, XR_931315.2:n.999C>T, XR_931315.1:n.998C>T, XM_017019698.3:c.625C>T, XM_017019698.2:c.625C>T, XM_017019698.1:c.625C>T, NM_020782.2:c.625C>T, NM_020782.1:c.625C>T, XP_016875187.1:p.Pro209Ser, NP_065833.1:p.Pro209Ser

Select item 147450068613.

rs1474500686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:27780553 (GRCh38)
12:27933486 (GRCh37)
Canonical SPDI:: NC_000012.12:27780552:C:G
Gene:: KLHL42 (Varview), MANSC4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.27780553C>G, NC_000012.11:g.27933486C>G, XR_931315.4:n.321C>G, XR_931315.3:n.317C>G, XR_931315.2:n.597C>G, XR_931315.1:n.596C>G, XM_017019698.3:c.223C>G, XM_017019698.2:c.223C>G, XM_017019698.1:c.223C>G, NM_020782.2:c.223C>G, NM_020782.1:c.223C>G, XP_016875187.1:p.Arg75Gly, NP_065833.1:p.Arg75Gly

Select item 147327182714.

rs1473271827 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:27797873 (GRCh38)
12:27950806 (GRCh37)
Canonical SPDI:: NC_000012.12:27797872:A:G
Gene:: KLHL42 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000068/3 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.27797873A>G, NC_000012.11:g.27950806A>G, XM_017019698.3:c.*583A>G, XM_017019698.2:c.*583A>G, XM_017019698.1:c.*583A>G, NM_020782.2:c.1225A>G, NM_020782.1:c.1225A>G, NP_065833.1:p.Ser409Gly

Select item 147107390315.

rs1471073903 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:27781051 (GRCh38)
12:27933984 (GRCh37)
Canonical SPDI:: NC_000012.12:27781050:G:T
Gene:: KLHL42 (Varview), MANSC4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.27781051G>T, NC_000012.11:g.27933984G>T, XR_931315.4:n.819G>T, XR_931315.3:n.815G>T, XR_931315.2:n.1095G>T, XR_931315.1:n.1094G>T, XM_017019698.3:c.721G>T, XM_017019698.2:c.721G>T, XM_017019698.1:c.721G>T, NM_020782.2:c.721G>T, NM_020782.1:c.721G>T, XP_016875187.1:p.Val241Phe, NP_065833.1:p.Val241Phe

Select item 146765529616.

rs1467655296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:27798148 (GRCh38)
12:27951081 (GRCh37)
Canonical SPDI:: NC_000012.12:27798147:C:A,NC_000012.12:27798147:C:T
Gene:: KLHL42 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.27798148C>A, NC_000012.12:g.27798148C>T, NC_000012.11:g.27951081C>A, NC_000012.11:g.27951081C>T, XM_017019698.3:c.*858C>A, XM_017019698.3:c.*858C>T, XM_017019698.2:c.*858C>A, XM_017019698.2:c.*858C>T, XM_017019698.1:c.*858C>A, XM_017019698.1:c.*858C>T, NM_020782.2:c.1500C>A, NM_020782.2:c.1500C>T, NM_020782.1:c.1500C>A, NM_020782.1:c.1500C>T

Select item 146569625417.

rs1465696254 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:27791824 (GRCh38)
12:27944757 (GRCh37)
Canonical SPDI:: NC_000012.12:27791823:T:C
Gene:: KLHL42 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.27791824T>C, NC_000012.11:g.27944757T>C, XM_017019698.3:c.989T>C, XM_017019698.2:c.989T>C, XM_017019698.1:c.989T>C, NM_020782.2:c.989T>C, NM_020782.1:c.989T>C, XP_016875187.1:p.Leu330Ser, NP_065833.1:p.Leu330Ser

Select item 146434202918.

rs1464342029 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:27781127 (GRCh38)
12:27934060 (GRCh37)
Canonical SPDI:: NC_000012.12:27781126:A:G
Gene:: KLHL42 (Varview), MANSC4 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.27781127A>G, NC_000012.11:g.27934060A>G, XR_931315.4:n.895A>G, XR_931315.3:n.891A>G, XR_931315.2:n.1171A>G, XR_931315.1:n.1170A>G, XM_017019698.3:c.797A>G, XM_017019698.2:c.797A>G, XM_017019698.1:c.797A>G, NM_020782.2:c.797A>G, NM_020782.1:c.797A>G, XP_016875187.1:p.Gln266Arg, NP_065833.1:p.Gln266Arg

Select item 146199926519.

rs1461999265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:27780867 (GRCh38)
12:27933800 (GRCh37)
Canonical SPDI:: NC_000012.12:27780866:C:T
Gene:: KLHL42 (Varview), MANSC4 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.27780867C>T, NC_000012.11:g.27933800C>T, XR_931315.4:n.635C>T, XR_931315.3:n.631C>T, XR_931315.2:n.911C>T, XR_931315.1:n.910C>T, XM_017019698.3:c.537C>T, XM_017019698.2:c.537C>T, XM_017019698.1:c.537C>T, NM_020782.2:c.537C>T, NM_020782.1:c.537C>T

Select item 145934985720.

rs1459349857 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:27797818 (GRCh38)
12:27950751 (GRCh37)
Canonical SPDI:: NC_000012.12:27797817:A:C
Gene:: KLHL42 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.27797818A>C, NC_000012.11:g.27950751A>C, XM_017019698.3:c.*528A>C, XM_017019698.2:c.*528A>C, XM_017019698.1:c.*528A>C, NM_020782.2:c.1170A>C, NM_020782.1:c.1170A>C, NP_065833.1:p.Glu390Asp

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