SNP Links for Protein (Select 937500801) - SNP

Links from Protein

Items: 1 to 20 of 604

<< First< Prev

Page of 31

Next >Last >>

Select item 14903895781.

rs1490389578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2902681 (GRCh38)
11:2923911 (GRCh37)
Canonical SPDI:: NC_000011.10:2902680:G:A
Gene:: SLC22A18 (Varview), SLC22A18AS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.2902681G>A, NC_000011.9:g.2923911G>A, NG_011512.1:g.7961G>A, NM_001315501.2:c.86G>A, NM_001315501.1:c.86G>A, NT_187585.1:g.134896G>A, NM_007105.4:c.-187C>T, XM_011520141.3:c.86G>A, XM_011520141.2:c.86G>A, XM_011520141.1:c.-170G>A, XM_011520142.3:c.86G>A, XM_011520142.2:c.86G>A, XM_011520142.1:c.-170G>A, NM_007105.3:c.-187C>T, NM_007105.2:c.-187C>T, NM_001302862.2:c.-101C>T, NR_169304.1:n.146C>T, NR_169305.1:n.146C>T, NM_001302862.1:c.-101C>T, NP_001302430.1:p.Arg29Gln, XP_011518443.2:p.Arg29Gln, XP_011518444.2:p.Arg29Gln

Select item 14899558832.

rs1489955883 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 11:2903372 (GRCh38)
11:2924602 (GRCh37)
Canonical SPDI:: NC_000011.10:2903371:CC:C
Gene:: SLC22A18 (Varview), SLC22A18AS (Varview)
Functional Consequence:: frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.2903373del, NC_000011.9:g.2924603del, NG_011512.1:g.8653del, NM_002555.6:c.28del, NM_002555.5:c.28del, NM_183233.3:c.28del, NM_183233.2:c.28del, NM_001315501.2:c.283del, NM_001315501.1:c.283del, NM_001315502.2:c.28del, NM_001315502.1:c.28del, NT_187585.1:g.135588del, XM_011520141.3:c.283del, XM_011520141.2:c.283del, XM_011520141.1:c.28del, XM_011520142.3:c.283del, XM_011520142.2:c.283del, XM_011520142.1:c.28del, XM_047427033.1:c.28del, NP_002546.3:p.Gln10fs, NP_899056.2:p.Gln10fs, NP_001302430.1:p.Gln95fs, NP_001302431.1:p.Gln10fs, XP_011518443.2:p.Gln95fs, XP_011518444.2:p.Gln95fs, XP_047282989.1:p.Gln10fs

Select item 14887259473.

rs1488725947 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:2909647 (GRCh38)
11:2930877 (GRCh37)
Canonical SPDI:: NC_000011.10:2909646:T:A
Gene:: SLC22A18 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2909647T>A, NC_000011.9:g.2930877T>A, NG_011512.1:g.14927T>A, NM_002555.6:c.473T>A, NM_002555.5:c.473T>A, NM_183233.3:c.473T>A, NM_183233.2:c.473T>A, NM_001315501.2:c.728T>A, NM_001315501.1:c.728T>A, NT_187585.1:g.141866T>A, XM_011520141.3:c.728T>A, XM_011520141.2:c.728T>A, XM_011520141.1:c.473T>A, XM_011520142.3:c.728T>A, XM_011520142.2:c.728T>A, XM_011520142.1:c.473T>A, XM_047427033.1:c.473T>A, NP_002546.3:p.Leu158His, NP_899056.2:p.Leu158His, NP_001302430.1:p.Leu243His, XP_011518443.2:p.Leu243His, XP_011518444.2:p.Leu243His, XP_047282989.1:p.Leu158His

Select item 14773457794.

rs1477345779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2919317 (GRCh38)
11:2940547 (GRCh37)
Canonical SPDI:: NC_000011.10:2919316:G:A
Gene:: SLC22A18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2919317G>A, NC_000011.9:g.2940547G>A, NG_011512.1:g.24597G>A, NM_002555.6:c.774G>A, NM_002555.5:c.774G>A, NM_183233.3:c.774G>A, NM_183233.2:c.774G>A, NM_001315501.2:c.1029G>A, NM_001315501.1:c.1029G>A, NM_001315502.2:c.480G>A, NM_001315502.1:c.480G>A, NT_187585.1:g.151534G>A, XM_011520141.3:c.1029G>A, XM_011520141.2:c.1029G>A, XM_011520141.1:c.774G>A, XM_011520142.3:c.1029G>A, XM_011520142.2:c.1029G>A, XM_011520142.1:c.774G>A, XM_047427034.1:c.453G>A, XM_047427033.1:c.774G>A, XM_047427035.1:c.345G>A, NP_002546.3:p.Met258Ile, NP_899056.2:p.Met258Ile, NP_001302430.1:p.Met343Ile, NP_001302431.1:p.Met160Ile, XP_011518443.2:p.Met343Ile, XP_011518444.2:p.Met343Ile, XP_047282990.1:p.Met151Ile, XP_047282989.1:p.Met258Ile, XP_047282991.1:p.Met115Ile

Select item 14756661285.

rs1475666128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2909254 (GRCh38)
11:2930484 (GRCh37)
Canonical SPDI:: NC_000011.10:2909253:G:A
Gene:: SLC22A18 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2909254G>A, NC_000011.9:g.2930484G>A, NG_011512.1:g.14534G>A, NM_002555.6:c.301G>A, NM_002555.5:c.301G>A, NM_183233.3:c.301G>A, NM_183233.2:c.301G>A, NM_001315501.2:c.556G>A, NM_001315501.1:c.556G>A, NT_187585.1:g.141474G>A, XM_011520141.3:c.556G>A, XM_011520141.2:c.556G>A, XM_011520141.1:c.301G>A, XM_011520142.3:c.556G>A, XM_011520142.2:c.556G>A, XM_011520142.1:c.301G>A, XM_047427033.1:c.301G>A, NP_002546.3:p.Ala101Thr, NP_899056.2:p.Ala101Thr, NP_001302430.1:p.Ala186Thr, XP_011518443.2:p.Ala186Thr, XP_011518444.2:p.Ala186Thr, XP_047282989.1:p.Ala101Thr

Select item 14740830016.

rs1474083001 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 11:2919390 (GRCh38)
11:2940620 (GRCh37)
Canonical SPDI:: NC_000011.10:2919385:CTTCTTC:CTTC
Gene:: SLC22A18 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.2919387TTC[1], NC_000011.9:g.2940617TTC[1], NG_011512.1:g.24667TTC[1], NM_002555.6:c.844TTC[1], NM_002555.5:c.844TTC[1], NM_183233.3:c.844TTC[1], NM_183233.2:c.844TTC[1], NM_001315501.2:c.1099TTC[1], NM_001315501.1:c.1099TTC[1], NM_001315502.2:c.550TTC[1], NM_001315502.1:c.550TTC[1], NT_187585.1:g.151604TTC[1], XM_011520141.3:c.1099TTC[1], XM_011520141.2:c.1099TTC[1], XM_011520141.1:c.844TTC[1], XM_011520142.3:c.1099TTC[1], XM_011520142.2:c.1099TTC[1], XM_011520142.1:c.844TTC[1], XM_047427034.1:c.523TTC[1], XM_047427033.1:c.844TTC[1], XM_047427035.1:c.415TTC[1], NP_002546.3:p.Phe283del, NP_899056.2:p.Phe283del, NP_001302430.1:p.Phe368del, NP_001302431.1:p.Phe185del, XP_011518443.2:p.Phe368del, XP_011518444.2:p.Phe368del, XP_047282990.1:p.Phe176del, XP_047282989.1:p.Phe283del, XP_047282991.1:p.Phe140del

Select item 14736125267.

rs1473612526 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:2909242 (GRCh38)
11:2930473 (GRCh37)
Canonical SPDI:: NC_000011.10:2909242:T:TT
Gene:: SLC22A18 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2909243dup, NC_000011.9:g.2930473dup, NG_011512.1:g.14523dup, NM_002555.6:c.290dup, NM_002555.5:c.290dup, NM_183233.3:c.290dup, NM_183233.2:c.290dup, NM_001315501.2:c.545dup, NM_001315501.1:c.545dup, NT_187585.1:g.141463dup, XM_011520141.3:c.545dup, XM_011520141.2:c.545dup, XM_011520141.1:c.290dup, XM_011520142.3:c.545dup, XM_011520142.2:c.545dup, XM_011520142.1:c.290dup, XM_047427033.1:c.290dup, NP_002546.3:p.Ala98fs, NP_899056.2:p.Ala98fs, NP_001302430.1:p.Ala183fs, XP_011518443.2:p.Ala183fs, XP_011518444.2:p.Ala183fs, XP_047282989.1:p.Ala98fs

Select item 14735892778.

rs1473589277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2917992 (GRCh38)
11:2939222 (GRCh37)
Canonical SPDI:: NC_000011.10:2917991:C:T
Gene:: SLC22A18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000026/7 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000011.10:g.2917992C>T, NC_000011.9:g.2939222C>T, NG_011512.1:g.23272C>T, NM_002555.6:c.660C>T, NM_002555.5:c.660C>T, NM_183233.3:c.660C>T, NM_183233.2:c.660C>T, NM_001315501.2:c.915C>T, NM_001315501.1:c.915C>T, NM_001315502.2:c.366C>T, NM_001315502.1:c.366C>T, NT_187585.1:g.150210C>T, XM_011520141.3:c.915C>T, XM_011520141.2:c.915C>T, XM_011520141.1:c.660C>T, XM_011520142.3:c.915C>T, XM_011520142.2:c.915C>T, XM_011520142.1:c.660C>T, XM_047427034.1:c.339C>T, XM_047427033.1:c.660C>T, XM_047427035.1:c.231C>T

Select item 14702850209.

rs1470285020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:2922534 (GRCh38)
11:2943764 (GRCh37)
Canonical SPDI:: NC_000011.10:2922533:G:A,NC_000011.10:2922533:G:T
Gene:: SLC22A18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2922534G>A, NC_000011.10:g.2922534G>T, NC_000011.9:g.2943764G>A, NC_000011.9:g.2943764G>T, NG_011512.1:g.27814G>A, NG_011512.1:g.27814G>T, NM_002555.6:c.1065G>A, NM_002555.6:c.1065G>T, NM_002555.5:c.1065G>A, NM_002555.5:c.1065G>T, NM_183233.3:c.1065G>A, NM_183233.3:c.1065G>T, NM_183233.2:c.1065G>A, NM_183233.2:c.1065G>T, NM_001315501.2:c.1320G>A, NM_001315501.2:c.1320G>T, NM_001315501.1:c.1320G>A, NM_001315501.1:c.1320G>T, NM_001315502.2:c.771G>A, NM_001315502.2:c.771G>T, NM_001315502.1:c.771G>A, NM_001315502.1:c.771G>T, NT_187585.1:g.154710G>A, NT_187585.1:g.154710G>T, XM_047427033.1:c.1065G>A, XM_047427033.1:c.1065G>T, XM_047427035.1:c.636G>A, XM_047427035.1:c.636G>T, XM_047427034.1:c.744G>A, XM_047427034.1:c.744G>T, NP_002546.3:p.Lys355Asn, NP_899056.2:p.Lys355Asn, NP_001302430.1:p.Lys440Asn, NP_001302431.1:p.Lys257Asn, XP_047282989.1:p.Lys355Asn, XP_047282991.1:p.Lys212Asn, XP_047282990.1:p.Lys248Asn

Select item 146977099010.

rs1469770990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2925113 (GRCh38)
11:2946343 (GRCh37)
Canonical SPDI:: NC_000011.10:2925112:C:T
Gene:: SLC22A18 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2925113C>T, NC_000011.9:g.2946343C>T, NG_011512.1:g.30393C>T, NM_002555.6:c.1191C>T, NM_002555.5:c.1191C>T, NM_183233.3:c.1191C>T, NM_183233.2:c.1191C>T, NM_001315501.2:c.1446C>T, NM_001315501.1:c.1446C>T, NM_001315502.2:c.897C>T, NM_001315502.1:c.897C>T, NT_187585.1:g.157229C>T, XM_047427033.1:c.1191C>T, XM_047427035.1:c.762C>T, XM_047427034.1:c.870C>T

Select item 146564098511.

rs1465640985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:2909282 (GRCh38)
11:2930512 (GRCh37)
Canonical SPDI:: NC_000011.10:2909281:C:G
Gene:: SLC22A18 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000011.10:g.2909282C>G, NC_000011.9:g.2930512C>G, NG_011512.1:g.14562C>G, NM_002555.6:c.329C>G, NM_002555.5:c.329C>G, NM_183233.3:c.329C>G, NM_183233.2:c.329C>G, NM_001315501.2:c.584C>G, NM_001315501.1:c.584C>G, NT_187585.1:g.141502C>G, XM_011520141.3:c.584C>G, XM_011520141.2:c.584C>G, XM_011520141.1:c.329C>G, XM_011520142.3:c.584C>G, XM_011520142.2:c.584C>G, XM_011520142.1:c.329C>G, XM_047427033.1:c.329C>G, NP_002546.3:p.Ser110Cys, NP_899056.2:p.Ser110Cys, NP_001302430.1:p.Ser195Cys, XP_011518443.2:p.Ser195Cys, XP_011518444.2:p.Ser195Cys, XP_047282989.1:p.Ser110Cys

Select item 146263701512.

rs1462637015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:2922129 (GRCh38)
11:2943359 (GRCh37)
Canonical SPDI:: NC_000011.10:2922128:C:A,NC_000011.10:2922128:C:G,NC_000011.10:2922128:C:T
Gene:: SLC22A18 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.2922129C>A, NC_000011.10:g.2922129C>G, NC_000011.10:g.2922129C>T, NC_000011.9:g.2943359C>A, NC_000011.9:g.2943359C>G, NC_000011.9:g.2943359C>T, NG_011512.1:g.27409C>A, NG_011512.1:g.27409C>G, NG_011512.1:g.27409C>T, NM_002555.6:c.892C>A, NM_002555.6:c.892C>G, NM_002555.6:c.892C>T, NM_002555.5:c.892C>A, NM_002555.5:c.892C>G, NM_002555.5:c.892C>T, NM_183233.3:c.892C>A, NM_183233.3:c.892C>G, NM_183233.3:c.892C>T, NM_183233.2:c.892C>A, NM_183233.2:c.892C>G, NM_183233.2:c.892C>T, NM_001315501.2:c.1147C>A, NM_001315501.2:c.1147C>G, NM_001315501.2:c.1147C>T, NM_001315501.1:c.1147C>A, NM_001315501.1:c.1147C>G, NM_001315501.1:c.1147C>T, NM_001315502.2:c.598C>A, NM_001315502.2:c.598C>G, NM_001315502.2:c.598C>T, NM_001315502.1:c.598C>A, NM_001315502.1:c.598C>G, NM_001315502.1:c.598C>T, NT_187585.1:g.154305C>A, NT_187585.1:g.154305C>G, NT_187585.1:g.154305C>T, XM_047427033.1:c.892C>A, XM_047427033.1:c.892C>G, XM_047427033.1:c.892C>T, XM_047427035.1:c.463C>A, XM_047427035.1:c.463C>G, XM_047427035.1:c.463C>T, XM_047427034.1:c.571C>A, XM_047427034.1:c.571C>G, XM_047427034.1:c.571C>T, NP_002546.3:p.Leu298Met, NP_002546.3:p.Leu298Val, NP_899056.2:p.Leu298Met, NP_899056.2:p.Leu298Val, NP_001302430.1:p.Leu383Met, NP_001302430.1:p.Leu383Val, NP_001302431.1:p.Leu200Met, NP_001302431.1:p.Leu200Val, XP_047282989.1:p.Leu298Met, XP_047282989.1:p.Leu298Val, XP_047282991.1:p.Leu155Met, XP_047282991.1:p.Leu155Val, XP_047282990.1:p.Leu191Met, XP_047282990.1:p.Leu191Val

Select item 146219645313.

rs1462196453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:2922513 (GRCh38)
11:2943743 (GRCh37)
Canonical SPDI:: NC_000011.10:2922512:C:G
Gene:: SLC22A18 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2922513C>G, NC_000011.9:g.2943743C>G, NG_011512.1:g.27793C>G, NM_002555.6:c.1044C>G, NM_002555.5:c.1044C>G, NM_183233.3:c.1044C>G, NM_183233.2:c.1044C>G, NM_001315501.2:c.1299C>G, NM_001315501.1:c.1299C>G, NM_001315502.2:c.750C>G, NM_001315502.1:c.750C>G, NT_187585.1:g.154689C>G, XM_047427033.1:c.1044C>G, XM_047427035.1:c.615C>G, XM_047427034.1:c.723C>G

Select item 145906978514.

rs1459069785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2903221 (GRCh38)
11:2924451 (GRCh37)
Canonical SPDI:: NC_000011.10:2903220:C:T
Gene:: SLC22A18 (Varview), SLC22A18AS (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2903221C>T, NC_000011.9:g.2924451C>T, NG_011512.1:g.8501C>T, NM_002555.6:c.-125C>T, NM_002555.5:c.-125C>T, NM_183233.3:c.-125C>T, NM_183233.2:c.-125C>T, NM_001315501.2:c.131C>T, NM_001315501.1:c.131C>T, NM_001315502.2:c.-125C>T, NM_001315502.1:c.-125C>T, NT_187585.1:g.135436C>T, XM_011520141.3:c.131C>T, XM_011520141.2:c.131C>T, XM_011520141.1:c.-125C>T, XM_011520142.3:c.131C>T, XM_011520142.2:c.131C>T, XM_011520142.1:c.-125C>T, XM_047427033.1:c.-125C>T, NP_001302430.1:p.Pro44Leu, XP_011518443.2:p.Pro44Leu, XP_011518444.2:p.Pro44Leu

Select item 145698767015.

rs1456987670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2916674 (GRCh38)
11:2937904 (GRCh37)
Canonical SPDI:: NC_000011.10:2916673:C:T
Gene:: SLC22A18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2916674C>T, NC_000011.9:g.2937904C>T, NG_011512.1:g.21954C>T, NM_002555.6:c.589C>T, NM_002555.5:c.589C>T, NM_183233.3:c.589C>T, NM_183233.2:c.589C>T, NM_001315501.2:c.844C>T, NM_001315501.1:c.844C>T, NM_001315502.2:c.295C>T, NM_001315502.1:c.295C>T, NT_187585.1:g.148893C>T, XM_011520141.3:c.844C>T, XM_011520141.2:c.844C>T, XM_011520141.1:c.589C>T, XM_011520142.3:c.844C>T, XM_011520142.2:c.844C>T, XM_011520142.1:c.589C>T, XM_047427034.1:c.268C>T, XM_047427033.1:c.589C>T, XM_047427035.1:c.160C>T, NP_002546.3:p.Leu197Phe, NP_899056.2:p.Leu197Phe, NP_001302430.1:p.Leu282Phe, NP_001302431.1:p.Leu99Phe, XP_011518443.2:p.Leu282Phe, XP_011518444.2:p.Leu282Phe, XP_047282990.1:p.Leu90Phe, XP_047282989.1:p.Leu197Phe, XP_047282991.1:p.Leu54Phe

Select item 145644401916.

rs1456444019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:2903419 (GRCh38)
11:2924649 (GRCh37)
Canonical SPDI:: NC_000011.10:2903418:T:A
Gene:: SLC22A18 (Varview), SLC22A18AS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2903419T>A, NC_000011.9:g.2924649T>A, NG_011512.1:g.8699T>A, NM_002555.6:c.74T>A, NM_002555.5:c.74T>A, NM_183233.3:c.74T>A, NM_183233.2:c.74T>A, NM_001315501.2:c.329T>A, NM_001315501.1:c.329T>A, NM_001315502.2:c.74T>A, NM_001315502.1:c.74T>A, NT_187585.1:g.135634T>A, XM_011520141.3:c.329T>A, XM_011520141.2:c.329T>A, XM_011520141.1:c.74T>A, XM_011520142.3:c.329T>A, XM_011520142.2:c.329T>A, XM_011520142.1:c.74T>A, XM_047427033.1:c.74T>A, NP_002546.3:p.Val25Asp, NP_899056.2:p.Val25Asp, NP_001302430.1:p.Val110Asp, NP_001302431.1:p.Val25Asp, XP_011518443.2:p.Val110Asp, XP_011518444.2:p.Val110Asp, XP_047282989.1:p.Val25Asp

Select item 145614998517.

rs1456149985 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:2922155 (GRCh38)
11:2943385 (GRCh37)
Canonical SPDI:: NC_000011.10:2922154:G:T
Gene:: SLC22A18 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2922155G>T, NC_000011.9:g.2943385G>T, NG_011512.1:g.27435G>T, NM_002555.6:c.918G>T, NM_002555.5:c.918G>T, NM_183233.3:c.918G>T, NM_183233.2:c.918G>T, NM_001315501.2:c.1173G>T, NM_001315501.1:c.1173G>T, NM_001315502.2:c.624G>T, NM_001315502.1:c.624G>T, NT_187585.1:g.154331G>T, XM_047427033.1:c.918G>T, XM_047427035.1:c.489G>T, XM_047427034.1:c.597G>T

Select item 145491079618.

rs1454910796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2903348 (GRCh38)
11:2924578 (GRCh37)
Canonical SPDI:: NC_000011.10:2903347:G:A
Gene:: SLC22A18 (Varview), SLC22A18AS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,initiator_codon_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_000011.10:g.2903348G>A, NC_000011.9:g.2924578G>A, NG_011512.1:g.8628G>A, NM_002555.6:c.3G>A, NM_002555.5:c.3G>A, NM_183233.3:c.3G>A, NM_183233.2:c.3G>A, NM_001315501.2:c.258G>A, NM_001315501.1:c.258G>A, NM_001315502.2:c.3G>A, NM_001315502.1:c.3G>A, NT_187585.1:g.135563G>A, XM_011520141.3:c.258G>A, XM_011520141.2:c.258G>A, XM_011520141.1:c.3G>A, XM_011520142.3:c.258G>A, XM_011520142.2:c.258G>A, XM_011520142.1:c.3G>A, XM_047427033.1:c.3G>A, NP_002546.3:p.Met1Ile, NP_899056.2:p.Met1Ile, NP_001302430.1:p.Met86Ile, NP_001302431.1:p.Met1Ile, XP_011518443.2:p.Met86Ile, XP_011518444.2:p.Met86Ile, XP_047282989.1:p.Met1Ile

Select item 145356092119.

rs1453560921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:2909325 (GRCh38)
11:2930555 (GRCh37)
Canonical SPDI:: NC_000011.10:2909324:C:G,NC_000011.10:2909324:C:T
Gene:: SLC22A18 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.2909325C>G, NC_000011.10:g.2909325C>T, NC_000011.9:g.2930555C>G, NC_000011.9:g.2930555C>T, NG_011512.1:g.14605C>G, NG_011512.1:g.14605C>T, NM_002555.6:c.372C>G, NM_002555.6:c.372C>T, NM_002555.5:c.372C>G, NM_002555.5:c.372C>T, NM_183233.3:c.372C>G, NM_183233.3:c.372C>T, NM_183233.2:c.372C>G, NM_183233.2:c.372C>T, NM_001315501.2:c.627C>G, NM_001315501.2:c.627C>T, NM_001315501.1:c.627C>G, NM_001315501.1:c.627C>T, NT_187585.1:g.141545C>G, NT_187585.1:g.141545C>T, XM_011520141.3:c.627C>G, XM_011520141.3:c.627C>T, XM_011520141.2:c.627C>G, XM_011520141.2:c.627C>T, XM_011520141.1:c.372C>G, XM_011520141.1:c.372C>T, XM_011520142.3:c.627C>G, XM_011520142.3:c.627C>T, XM_011520142.2:c.627C>G, XM_011520142.2:c.627C>T, XM_011520142.1:c.372C>G, XM_011520142.1:c.372C>T, XM_047427033.1:c.372C>G, XM_047427033.1:c.372C>T

Select item 145297592420.

rs1452975924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:2909616 (GRCh38)
11:2930846 (GRCh37)
Canonical SPDI:: NC_000011.10:2909615:G:C
Gene:: SLC22A18 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
C=0.001139/2 (Korea1K)
HGVS:: NC_000011.10:g.2909616G>C, NC_000011.9:g.2930846G>C, NG_011512.1:g.14896G>C, NM_002555.6:c.442G>C, NM_002555.5:c.442G>C, NM_183233.3:c.442G>C, NM_183233.2:c.442G>C, NM_001315501.2:c.697G>C, NM_001315501.1:c.697G>C, NT_187585.1:g.141835G>C, XM_011520141.3:c.697G>C, XM_011520141.2:c.697G>C, XM_011520141.1:c.442G>C, XM_011520142.3:c.697G>C, XM_011520142.2:c.697G>C, XM_011520142.1:c.442G>C, XM_047427033.1:c.442G>C, NP_002546.3:p.Glu148Gln, NP_899056.2:p.Glu148Gln, NP_001302430.1:p.Glu233Gln, XP_011518443.2:p.Glu233Gln, XP_011518444.2:p.Glu233Gln, XP_047282989.1:p.Glu148Gln

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 604

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity