SNP Links for Protein (Select 768025623) - SNP

Select item 14908549851.

rs1490854985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:32225755 (GRCh38)
22:32621742 (GRCh37)
Canonical SPDI:: NC_000022.11:32225754:C:G
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
HGVS:: NC_000022.11:g.32225755C>G, NC_000022.10:g.32621742C>G, XM_006724308.4:c.1211G>C, XM_006724308.3:c.1211G>C, XM_006724308.2:c.1211G>C, XM_006724308.1:c.1211G>C, XM_011530342.3:c.1211G>C, XM_011530342.2:c.1211G>C, XM_011530342.1:c.1211G>C, XM_011530344.3:c.1142G>C, XM_011530344.2:c.1142G>C, XM_011530344.1:c.1142G>C, NM_014227.3:c.1349G>C, NM_014227.2:c.1349G>C, XM_011530343.3:c.1211G>C, XM_011530343.2:c.1211G>C, XM_011530343.1:c.1211G>C, XM_017028920.2:c.1439G>C, XM_017028920.1:c.1439G>C, XP_006724371.1:p.Gly404Ala, XP_011528644.1:p.Gly404Ala, XP_011528646.1:p.Gly381Ala, NP_055042.1:p.Gly450Ala, XP_011528645.1:p.Gly404Ala, XP_016884409.1:p.Gly480Ala

Select item 14858231202.

rs1485823120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:32234956 (GRCh38)
22:32630943 (GRCh37)
Canonical SPDI:: NC_000022.11:32234955:C:G
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32234956C>G, NC_000022.10:g.32630943C>G, XM_006724308.4:c.664G>C, XM_006724308.3:c.664G>C, XM_006724308.2:c.664G>C, XM_006724308.1:c.664G>C, XM_011530342.3:c.664G>C, XM_011530342.2:c.664G>C, XM_011530342.1:c.664G>C, XM_011530344.3:c.595G>C, XM_011530344.2:c.595G>C, XM_011530344.1:c.595G>C, NM_014227.3:c.802G>C, NM_014227.2:c.802G>C, XM_011530343.3:c.664G>C, XM_011530343.2:c.664G>C, XM_011530343.1:c.664G>C, XM_017028920.2:c.892G>C, XM_017028920.1:c.892G>C, XP_006724371.1:p.Asp222His, XP_011528644.1:p.Asp222His, XP_011528646.1:p.Asp199His, NP_055042.1:p.Asp268His, XP_011528645.1:p.Asp222His, XP_016884409.1:p.Asp298His

Select item 14850892223.

rs1485089222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:32234882 (GRCh38)
22:32630869 (GRCh37)
Canonical SPDI:: NC_000022.11:32234881:G:A
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.32234882G>A, NC_000022.10:g.32630869G>A, XM_006724308.4:c.738C>T, XM_006724308.3:c.738C>T, XM_006724308.2:c.738C>T, XM_006724308.1:c.738C>T, XM_011530342.3:c.738C>T, XM_011530342.2:c.738C>T, XM_011530342.1:c.738C>T, XM_011530344.3:c.669C>T, XM_011530344.2:c.669C>T, XM_011530344.1:c.669C>T, NM_014227.3:c.876C>T, NM_014227.2:c.876C>T, XM_011530343.3:c.738C>T, XM_011530343.2:c.738C>T, XM_011530343.1:c.738C>T, XM_017028920.2:c.966C>T, XM_017028920.1:c.966C>T

Select item 14847231924.

rs1484723192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:32231044 (GRCh38)
22:32627031 (GRCh37)
Canonical SPDI:: NC_000022.11:32231043:G:A
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.32231044G>A, NC_000022.10:g.32627031G>A, XM_006724308.4:c.915C>T, XM_006724308.3:c.915C>T, XM_006724308.2:c.915C>T, XM_006724308.1:c.915C>T, XM_011530342.3:c.915C>T, XM_011530342.2:c.915C>T, XM_011530342.1:c.915C>T, XM_011530344.3:c.846C>T, XM_011530344.2:c.846C>T, XM_011530344.1:c.846C>T, NM_014227.3:c.1053C>T, NM_014227.2:c.1053C>T, XM_011530343.3:c.915C>T, XM_011530343.2:c.915C>T, XM_011530343.1:c.915C>T, XM_017028920.2:c.1143C>T, XM_017028920.1:c.1143C>T

Select item 14844412745.

rs1484441274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:32229269 (GRCh38)
22:32625256 (GRCh37)
Canonical SPDI:: NC_000022.11:32229268:C:A
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32229269C>A, NC_000022.10:g.32625256C>A, XM_006724308.4:c.1067G>T, XM_006724308.3:c.1067G>T, XM_006724308.2:c.1067G>T, XM_006724308.1:c.1067G>T, XM_011530342.3:c.1067G>T, XM_011530342.2:c.1067G>T, XM_011530342.1:c.1067G>T, XM_011530344.3:c.998G>T, XM_011530344.2:c.998G>T, XM_011530344.1:c.998G>T, NM_014227.3:c.1205G>T, NM_014227.2:c.1205G>T, XM_011530343.3:c.1067G>T, XM_011530343.2:c.1067G>T, XM_011530343.1:c.1067G>T, XM_017028920.2:c.1295G>T, XM_017028920.1:c.1295G>T, XP_006724371.1:p.Ser356Ile, XP_011528644.1:p.Ser356Ile, XP_011528646.1:p.Ser333Ile, NP_055042.1:p.Ser402Ile, XP_011528645.1:p.Ser356Ile, XP_016884409.1:p.Ser432Ile

Select item 14830902096.

rs1483090209 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:32229226 (GRCh38)
22:32625213 (GRCh37)
Canonical SPDI:: NC_000022.11:32229225:T:C
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.32229226T>C, NC_000022.10:g.32625213T>C, XM_006724308.4:c.1110A>G, XM_006724308.3:c.1110A>G, XM_006724308.2:c.1110A>G, XM_006724308.1:c.1110A>G, XM_011530342.3:c.1110A>G, XM_011530342.2:c.1110A>G, XM_011530342.1:c.1110A>G, XM_011530344.3:c.1041A>G, XM_011530344.2:c.1041A>G, XM_011530344.1:c.1041A>G, NM_014227.3:c.1248A>G, NM_014227.2:c.1248A>G, XM_011530343.3:c.1110A>G, XM_011530343.2:c.1110A>G, XM_011530343.1:c.1110A>G, XM_017028920.2:c.1338A>G, XM_017028920.1:c.1338A>G

Select item 14779096797.

rs1477909679 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:32225766 (GRCh38)
22:32621753 (GRCh37)
Canonical SPDI:: NC_000022.11:32225765:A:C
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32225766A>C, NC_000022.10:g.32621753A>C, XM_006724308.4:c.1200T>G, XM_006724308.3:c.1200T>G, XM_006724308.2:c.1200T>G, XM_006724308.1:c.1200T>G, XM_011530342.3:c.1200T>G, XM_011530342.2:c.1200T>G, XM_011530342.1:c.1200T>G, XM_011530344.3:c.1131T>G, XM_011530344.2:c.1131T>G, XM_011530344.1:c.1131T>G, NM_014227.3:c.1338T>G, NM_014227.2:c.1338T>G, XM_011530343.3:c.1200T>G, XM_011530343.2:c.1200T>G, XM_011530343.1:c.1200T>G, XM_017028920.2:c.1428T>G, XM_017028920.1:c.1428T>G

Select item 14760025408.

rs1476002540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:32234966 (GRCh38)
22:32630953 (GRCh37)
Canonical SPDI:: NC_000022.11:32234965:G:A
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.32234966G>A, NC_000022.10:g.32630953G>A, XM_006724308.4:c.654C>T, XM_006724308.3:c.654C>T, XM_006724308.2:c.654C>T, XM_006724308.1:c.654C>T, XM_011530342.3:c.654C>T, XM_011530342.2:c.654C>T, XM_011530342.1:c.654C>T, XM_011530344.3:c.585C>T, XM_011530344.2:c.585C>T, XM_011530344.1:c.585C>T, NM_014227.3:c.792C>T, NM_014227.2:c.792C>T, XM_011530343.3:c.654C>T, XM_011530343.2:c.654C>T, XM_011530343.1:c.654C>T, XM_017028920.2:c.882C>T, XM_017028920.1:c.882C>T

Select item 14755280999.

rs1475528099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:32247420 (GRCh38)
22:32643407 (GRCh37)
Canonical SPDI:: NC_000022.11:32247419:C:A
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_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_000022.11:g.32247420C>A, NC_000022.10:g.32643407C>A, XM_006724308.4:c.330G>T, XM_006724308.3:c.330G>T, XM_006724308.2:c.330G>T, XM_006724308.1:c.330G>T, XM_011530342.3:c.330G>T, XM_011530342.2:c.330G>T, XM_011530342.1:c.330G>T, XM_011530344.3:c.261G>T, XM_011530344.2:c.261G>T, XM_011530344.1:c.261G>T, NM_014227.3:c.468G>T, NM_014227.2:c.468G>T, XM_011530343.3:c.330G>T, XM_011530343.2:c.330G>T, XM_011530343.1:c.330G>T, XM_017028920.2:c.558G>T, XM_017028920.1:c.558G>T, XP_006724371.1:p.Leu110Phe, XP_011528644.1:p.Leu110Phe, XP_011528646.1:p.Leu87Phe, NP_055042.1:p.Leu156Phe, XP_011528645.1:p.Leu110Phe, XP_016884409.1:p.Leu186Phe

Select item 147523964410.

rs1475239644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:32231054 (GRCh38)
22:32627041 (GRCh37)
Canonical SPDI:: NC_000022.11:32231053:G:A
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32231054G>A, NC_000022.10:g.32627041G>A, XM_006724308.4:c.905C>T, XM_006724308.3:c.905C>T, XM_006724308.2:c.905C>T, XM_006724308.1:c.905C>T, XM_011530342.3:c.905C>T, XM_011530342.2:c.905C>T, XM_011530342.1:c.905C>T, XM_011530344.3:c.836C>T, XM_011530344.2:c.836C>T, XM_011530344.1:c.836C>T, NM_014227.3:c.1043C>T, NM_014227.2:c.1043C>T, XM_011530343.3:c.905C>T, XM_011530343.2:c.905C>T, XM_011530343.1:c.905C>T, XM_017028920.2:c.1133C>T, XM_017028920.1:c.1133C>T, XP_006724371.1:p.Pro302Leu, XP_011528644.1:p.Pro302Leu, XP_011528646.1:p.Pro279Leu, NP_055042.1:p.Pro348Leu, XP_011528645.1:p.Pro302Leu, XP_016884409.1:p.Pro378Leu

Select item 147486402511.

rs1474864025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:32234901 (GRCh38)
22:32630888 (GRCh37)
Canonical SPDI:: NC_000022.11:32234900:G:A
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.32234901G>A, NC_000022.10:g.32630888G>A, XM_006724308.4:c.719C>T, XM_006724308.3:c.719C>T, XM_006724308.2:c.719C>T, XM_006724308.1:c.719C>T, XM_011530342.3:c.719C>T, XM_011530342.2:c.719C>T, XM_011530342.1:c.719C>T, XM_011530344.3:c.650C>T, XM_011530344.2:c.650C>T, XM_011530344.1:c.650C>T, NM_014227.3:c.857C>T, NM_014227.2:c.857C>T, XM_011530343.3:c.719C>T, XM_011530343.2:c.719C>T, XM_011530343.1:c.719C>T, XM_017028920.2:c.947C>T, XM_017028920.1:c.947C>T, XP_006724371.1:p.Thr240Ile, XP_011528644.1:p.Thr240Ile, XP_011528646.1:p.Thr217Ile, NP_055042.1:p.Thr286Ile, XP_011528645.1:p.Thr240Ile, XP_016884409.1:p.Thr316Ile

Select item 147454831312.

rs1474548313 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 22:32237260 (GRCh38)
22:32633247 (GRCh37)
Canonical SPDI:: NC_000022.11:32237259:AAAA:AAA,NC_000022.11:32237259:AAAA:AAAAA
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0.000015/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32237263del, NC_000022.11:g.32237263dup, NC_000022.10:g.32633250del, NC_000022.10:g.32633250dup, XM_006724308.4:c.510del, XM_006724308.4:c.510dup, XM_006724308.3:c.510del, XM_006724308.3:c.510dup, XM_006724308.2:c.510del, XM_006724308.2:c.510dup, XM_006724308.1:c.510del, XM_006724308.1:c.510dup, XM_011530342.3:c.510del, XM_011530342.3:c.510dup, XM_011530342.2:c.510del, XM_011530342.2:c.510dup, XM_011530342.1:c.510del, XM_011530342.1:c.510dup, XM_011530344.3:c.441del, XM_011530344.3:c.441dup, XM_011530344.2:c.441del, XM_011530344.2:c.441dup, XM_011530344.1:c.441del, XM_011530344.1:c.441dup, NM_014227.3:c.648del, NM_014227.3:c.648dup, NM_014227.2:c.648del, NM_014227.2:c.648dup, XM_011530343.3:c.510del, XM_011530343.3:c.510dup, XM_011530343.2:c.510del, XM_011530343.2:c.510dup, XM_011530343.1:c.510del, XM_011530343.1:c.510dup, XM_017028920.2:c.738del, XM_017028920.2:c.738dup, XM_017028920.1:c.738del, XM_017028920.1:c.738dup, XP_006724371.1:p.Phe170fs, XP_006724371.1:p.Ile171fs, XP_011528644.1:p.Phe170fs, XP_011528644.1:p.Ile171fs, XP_011528646.1:p.Phe147fs, XP_011528646.1:p.Ile148fs, NP_055042.1:p.Phe216fs, NP_055042.1:p.Ile217fs, XP_011528645.1:p.Phe170fs, XP_011528645.1:p.Ile171fs, XP_016884409.1:p.Phe246fs, XP_016884409.1:p.Ile247fs

Select item 147125118313.

rs1471251183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:32218564 (GRCh38)
22:32614551 (GRCh37)
Canonical SPDI:: NC_000022.11:32218563:C:T
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.00006/1 (TOMMO)
HGVS:: NC_000022.11:g.32218564C>T, NC_000022.10:g.32614551C>T, XM_006724308.4:c.1792G>A, XM_006724308.3:c.1792G>A, XM_006724308.2:c.1792G>A, XM_006724308.1:c.1792G>A, XM_011530342.3:c.1792G>A, XM_011530342.2:c.1792G>A, XM_011530342.1:c.1792G>A, XM_011530344.3:c.1723G>A, XM_011530344.2:c.1723G>A, XM_011530344.1:c.1723G>A, NM_014227.3:c.1930G>A, NM_014227.2:c.1930G>A, XM_011530343.3:c.1792G>A, XM_011530343.2:c.1792G>A, XM_011530343.1:c.1792G>A, XM_017028920.2:c.2020G>A, XM_017028920.1:c.2020G>A, XP_006724371.1:p.Ala598Thr, XP_011528644.1:p.Ala598Thr, XP_011528646.1:p.Ala575Thr, NP_055042.1:p.Ala644Thr, XP_011528645.1:p.Ala598Thr, XP_016884409.1:p.Ala674Thr

Select item 146733370914.

rs1467333709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 22:32229312 (GRCh38)
22:32625299 (GRCh37)
Canonical SPDI:: NC_000022.11:32229311:C:A,NC_000022.11:32229311:C:G
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.32229312C>A, NC_000022.11:g.32229312C>G, NC_000022.10:g.32625299C>A, NC_000022.10:g.32625299C>G, XM_006724308.4:c.1024G>T, XM_006724308.4:c.1024G>C, XM_006724308.3:c.1024G>T, XM_006724308.3:c.1024G>C, XM_006724308.2:c.1024G>T, XM_006724308.2:c.1024G>C, XM_006724308.1:c.1024G>T, XM_006724308.1:c.1024G>C, XM_011530342.3:c.1024G>T, XM_011530342.3:c.1024G>C, XM_011530342.2:c.1024G>T, XM_011530342.2:c.1024G>C, XM_011530342.1:c.1024G>T, XM_011530342.1:c.1024G>C, XM_011530344.3:c.955G>T, XM_011530344.3:c.955G>C, XM_011530344.2:c.955G>T, XM_011530344.2:c.955G>C, XM_011530344.1:c.955G>T, XM_011530344.1:c.955G>C, NM_014227.3:c.1162G>T, NM_014227.3:c.1162G>C, NM_014227.2:c.1162G>T, NM_014227.2:c.1162G>C, XM_011530343.3:c.1024G>T, XM_011530343.3:c.1024G>C, XM_011530343.2:c.1024G>T, XM_011530343.2:c.1024G>C, XM_011530343.1:c.1024G>T, XM_011530343.1:c.1024G>C, XM_017028920.2:c.1252G>T, XM_017028920.2:c.1252G>C, XM_017028920.1:c.1252G>T, XM_017028920.1:c.1252G>C, XP_006724371.1:p.Ala342Ser, XP_006724371.1:p.Ala342Pro, XP_011528644.1:p.Ala342Ser, XP_011528644.1:p.Ala342Pro, XP_011528646.1:p.Ala319Ser, XP_011528646.1:p.Ala319Pro, NP_055042.1:p.Ala388Ser, NP_055042.1:p.Ala388Pro, XP_011528645.1:p.Ala342Ser, XP_011528645.1:p.Ala342Pro, XP_016884409.1:p.Ala418Ser, XP_016884409.1:p.Ala418Pro

Select item 146518756815.

rs1465187568 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:32231042 (GRCh38)
22:32627029 (GRCh37)
Canonical SPDI:: NC_000022.11:32231041:A:G
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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_000022.11:g.32231042A>G, NC_000022.10:g.32627029A>G, XM_006724308.4:c.917T>C, XM_006724308.3:c.917T>C, XM_006724308.2:c.917T>C, XM_006724308.1:c.917T>C, XM_011530342.3:c.917T>C, XM_011530342.2:c.917T>C, XM_011530342.1:c.917T>C, XM_011530344.3:c.848T>C, XM_011530344.2:c.848T>C, XM_011530344.1:c.848T>C, NM_014227.3:c.1055T>C, NM_014227.2:c.1055T>C, XM_011530343.3:c.917T>C, XM_011530343.2:c.917T>C, XM_011530343.1:c.917T>C, XM_017028920.2:c.1145T>C, XM_017028920.1:c.1145T>C, XP_006724371.1:p.Val306Ala, XP_011528644.1:p.Val306Ala, XP_011528646.1:p.Val283Ala, NP_055042.1:p.Val352Ala, XP_011528645.1:p.Val306Ala, XP_016884409.1:p.Val382Ala

Select item 146402313716.

rs1464023137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:32218548 (GRCh38)
22:32614535 (GRCh37)
Canonical SPDI:: NC_000022.11:32218547:G:T
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32218548G>T, NC_000022.10:g.32614535G>T, XM_006724308.4:c.1808C>A, XM_006724308.3:c.1808C>A, XM_006724308.2:c.1808C>A, XM_006724308.1:c.1808C>A, XM_011530342.3:c.1808C>A, XM_011530342.2:c.1808C>A, XM_011530342.1:c.1808C>A, XM_011530344.3:c.1739C>A, XM_011530344.2:c.1739C>A, XM_011530344.1:c.1739C>A, NM_014227.3:c.1946C>A, NM_014227.2:c.1946C>A, XM_011530343.3:c.1808C>A, XM_011530343.2:c.1808C>A, XM_011530343.1:c.1808C>A, XM_017028920.2:c.2036C>A, XM_017028920.1:c.2036C>A, XP_006724371.1:p.Ala603Asp, XP_011528644.1:p.Ala603Asp, XP_011528646.1:p.Ala580Asp, NP_055042.1:p.Ala649Asp, XP_011528645.1:p.Ala603Asp, XP_016884409.1:p.Ala679Asp

Select item 145917603817.

rs1459176038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:32231075 (GRCh38)
22:32627062 (GRCh37)
Canonical SPDI:: NC_000022.11:32231074:T:C
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.32231075T>C, NC_000022.10:g.32627062T>C, XM_006724308.4:c.884A>G, XM_006724308.3:c.884A>G, XM_006724308.2:c.884A>G, XM_006724308.1:c.884A>G, XM_011530342.3:c.884A>G, XM_011530342.2:c.884A>G, XM_011530342.1:c.884A>G, XM_011530344.3:c.815A>G, XM_011530344.2:c.815A>G, XM_011530344.1:c.815A>G, NM_014227.3:c.1022A>G, NM_014227.2:c.1022A>G, XM_011530343.3:c.884A>G, XM_011530343.2:c.884A>G, XM_011530343.1:c.884A>G, XM_017028920.2:c.1112A>G, XM_017028920.1:c.1112A>G, XP_006724371.1:p.Asp295Gly, XP_011528644.1:p.Asp295Gly, XP_011528646.1:p.Asp272Gly, NP_055042.1:p.Asp341Gly, XP_011528645.1:p.Asp295Gly, XP_016884409.1:p.Asp371Gly

Select item 145716827218.

rs1457168272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:32247432 (GRCh38)
22:32643419 (GRCh37)
Canonical SPDI:: NC_000022.11:32247431:G:A
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.32247432G>A, NC_000022.10:g.32643419G>A, XM_006724308.4:c.318C>T, XM_006724308.3:c.318C>T, XM_006724308.2:c.318C>T, XM_006724308.1:c.318C>T, XM_011530342.3:c.318C>T, XM_011530342.2:c.318C>T, XM_011530342.1:c.318C>T, XM_011530344.3:c.249C>T, XM_011530344.2:c.249C>T, XM_011530344.1:c.249C>T, NM_014227.3:c.456C>T, NM_014227.2:c.456C>T, XM_011530343.3:c.318C>T, XM_011530343.2:c.318C>T, XM_011530343.1:c.318C>T, XM_017028920.2:c.546C>T, XM_017028920.1:c.546C>T

Select item 145649134819.

rs1456491348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:32237320 (GRCh38)
22:32633307 (GRCh37)
Canonical SPDI:: NC_000022.11:32237319:G:C
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.32237320G>C, NC_000022.10:g.32633307G>C, XM_006724308.4:c.450C>G, XM_006724308.3:c.450C>G, XM_006724308.2:c.450C>G, XM_006724308.1:c.450C>G, XM_011530342.3:c.450C>G, XM_011530342.2:c.450C>G, XM_011530342.1:c.450C>G, XM_011530344.3:c.381C>G, XM_011530344.2:c.381C>G, XM_011530344.1:c.381C>G, NM_014227.3:c.588C>G, NM_014227.2:c.588C>G, XM_011530343.3:c.450C>G, XM_011530343.2:c.450C>G, XM_011530343.1:c.450C>G, XM_017028920.2:c.678C>G, XM_017028920.1:c.678C>G

Select item 145579241320.

rs1455792413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 22:32248792 (GRCh38)
22:32644779 (GRCh37)
Canonical SPDI:: NC_000022.11:32248791:A:G,NC_000022.11:32248791:A:T
Gene:: SLC5A4 (Varview), SLC5A4-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.32248792A>G, NC_000022.11:g.32248792A>T, NC_000022.10:g.32644779A>G, NC_000022.10:g.32644779A>T, XM_006724308.4:c.185T>C, XM_006724308.4:c.185T>A, XM_006724308.3:c.185T>C, XM_006724308.3:c.185T>A, XM_006724308.2:c.185T>C, XM_006724308.2:c.185T>A, XM_006724308.1:c.185T>C, XM_006724308.1:c.185T>A, XM_011530342.3:c.185T>C, XM_011530342.3:c.185T>A, XM_011530342.2:c.185T>C, XM_011530342.2:c.185T>A, XM_011530342.1:c.185T>C, XM_011530342.1:c.185T>A, XM_011530344.3:c.116T>C, XM_011530344.3:c.116T>A, XM_011530344.2:c.116T>C, XM_011530344.2:c.116T>A, XM_011530344.1:c.116T>C, XM_011530344.1:c.116T>A, NM_014227.3:c.323T>C, NM_014227.3:c.323T>A, NM_014227.2:c.323T>C, NM_014227.2:c.323T>A, XM_011530343.3:c.185T>C, XM_011530343.3:c.185T>A, XM_011530343.2:c.185T>C, XM_011530343.2:c.185T>A, XM_011530343.1:c.185T>C, XM_011530343.1:c.185T>A, XM_017028920.2:c.413T>C, XM_017028920.2:c.413T>A, XM_017028920.1:c.413T>C, XM_017028920.1:c.413T>A, XP_006724371.1:p.Met62Thr, XP_006724371.1:p.Met62Lys, XP_011528644.1:p.Met62Thr, XP_011528644.1:p.Met62Lys, XP_011528646.1:p.Met39Thr, XP_011528646.1:p.Met39Lys, NP_055042.1:p.Met108Thr, NP_055042.1:p.Met108Lys, XP_011528645.1:p.Met62Thr, XP_011528645.1:p.Met62Lys, XP_016884409.1:p.Met138Thr, XP_016884409.1:p.Met138Lys

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Result Filters

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Publication

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Global MAF

Custom range

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Items: 1 to 20 of 588

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