SNP Links for Protein (Select 578836527) - SNP

Links from Protein

Items: 1 to 20 of 165

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Select item 14887051491.

rs1488705149 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:13610308 (GRCh38)
21:14982629 (GRCh37)
Canonical SPDI:: NC_000021.9:13610307:G:C
Gene:: POTED (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0./0 (SGDP_PRJ)
HGVS:: NC_000021.9:g.13610308G>C, NC_000021.8:g.14982629G>C, NM_174981.6:c.80G>C, NM_174981.5:c.80G>C, NM_174981.4:c.80G>C, NM_174981.3:c.80G>C, XM_006723997.4:c.80G>C, XM_006723997.3:c.80G>C, XM_006723997.2:c.80G>C, XM_006723997.1:c.80G>C, XM_011529550.3:c.80G>C, XM_011529550.2:c.80G>C, XM_011529550.1:c.80G>C, NP_778146.2:p.Trp27Ser, XP_006724060.1:p.Trp27Ser, XP_011527852.1:p.Trp27Ser

Select item 14844221792.

rs1484422179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:13610463 (GRCh38)
21:14982784 (GRCh37)
Canonical SPDI:: NC_000021.9:13610462:A:G
Gene:: POTED (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000054/6 (GnomAD_exomes)
HGVS:: NC_000021.9:g.13610463A>G, NC_000021.8:g.14982784A>G, NM_174981.6:c.235A>G, NM_174981.5:c.235A>G, NM_174981.4:c.235A>G, NM_174981.3:c.235A>G, XM_006723997.4:c.235A>G, XM_006723997.3:c.235A>G, XM_006723997.2:c.235A>G, XM_006723997.1:c.235A>G, XM_011529550.3:c.235A>G, XM_011529550.2:c.235A>G, XM_011529550.1:c.235A>G, NP_778146.2:p.Asn79Asp, XP_006724060.1:p.Asn79Asp, XP_011527852.1:p.Asn79Asp

Select item 14840938733.

rs1484093873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:13620285 (GRCh38)
21:14992606 (GRCh37)
Canonical SPDI:: NC_000021.9:13620284:C:G,NC_000021.9:13620284:C:T
Gene:: POTED (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00495/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.13620285C>G, NC_000021.9:g.13620285C>T, NC_000021.8:g.14992606C>G, NC_000021.8:g.14992606C>T, NM_174981.6:c.1045C>G, NM_174981.6:c.1045C>T, NM_174981.5:c.1045C>G, NM_174981.5:c.1045C>T, NM_174981.4:c.1045C>G, NM_174981.4:c.1045C>T, NM_174981.3:c.1045C>G, NM_174981.3:c.1045C>T, XM_006723997.4:c.1045C>G, XM_006723997.4:c.1045C>T, XM_006723997.3:c.1045C>G, XM_006723997.3:c.1045C>T, XM_006723997.2:c.1045C>G, XM_006723997.2:c.1045C>T, XM_006723997.1:c.1045C>G, XM_006723997.1:c.1045C>T, XM_011529550.3:c.1045C>G, XM_011529550.3:c.1045C>T, XM_011529550.2:c.1045C>G, XM_011529550.2:c.1045C>T, XM_011529550.1:c.1045C>G, XM_011529550.1:c.1045C>T, NP_778146.2:p.His349Asp, NP_778146.2:p.His349Tyr, XP_006724060.1:p.His349Asp, XP_006724060.1:p.His349Tyr, XP_011527852.1:p.His349Asp, XP_011527852.1:p.His349Tyr

Select item 14778727874.

rs1477872787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:13610638 (GRCh38)
21:14982959 (GRCh37)
Canonical SPDI:: NC_000021.9:13610637:G:A
Gene:: POTED (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000013/2 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
A=0.000621/4 (TOMMO)
A=0.003472/2 (Korea1K)
HGVS:: NC_000021.9:g.13610638G>A, NC_000021.8:g.14982959G>A, NM_174981.6:c.410G>A, NM_174981.5:c.410G>A, NM_174981.4:c.410G>A, NM_174981.3:c.410G>A, XM_006723997.4:c.410G>A, XM_006723997.3:c.410G>A, XM_006723997.2:c.410G>A, XM_006723997.1:c.410G>A, XM_011529550.3:c.410G>A, XM_011529550.2:c.410G>A, XM_011529550.1:c.410G>A, NP_778146.2:p.Arg137Gln, XP_006724060.1:p.Arg137Gln, XP_011527852.1:p.Arg137Gln

Select item 14739051305.

rs1473905130 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATGG [Show Flanks]
Chromosome:: 21:13610353 (GRCh38)
21:14982675 (GRCh37)
Canonical SPDI:: NC_000021.9:13610353:CATGG:CATGGCATGG
Gene:: POTED (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATGGCATGG=0./0 (ALFA)
CATGG=0.00015/5 (GnomAD)
CATGG=0.00033/13 (GnomAD_exomes)
HGVS:: NC_000021.9:g.13610354_13610358dup, NC_000021.8:g.14982675_14982679dup, NM_174981.6:c.126_130dup, NM_174981.5:c.126_130dup, NM_174981.4:c.126_130dup, NM_174981.3:c.126_130dup, XM_006723997.4:c.126_130dup, XM_006723997.3:c.126_130dup, XM_006723997.2:c.126_130dup, XM_006723997.1:c.126_130dup, XM_011529550.3:c.126_130dup, XM_011529550.2:c.126_130dup, XM_011529550.1:c.126_130dup, NP_778146.2:p.Gly44fs, XP_006724060.1:p.Gly44fs, XP_011527852.1:p.Gly44fs

Select item 14683292956.

rs1468329295 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:13610636 (GRCh38)
21:14982957 (GRCh37)
Canonical SPDI:: NC_000021.9:13610635:T:C
Gene:: POTED (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000021.9:g.13610636T>C, NC_000021.8:g.14982957T>C, NM_174981.6:c.408T>C, NM_174981.5:c.408T>C, NM_174981.4:c.408T>C, NM_174981.3:c.408T>C, XM_006723997.4:c.408T>C, XM_006723997.3:c.408T>C, XM_006723997.2:c.408T>C, XM_006723997.1:c.408T>C, XM_011529550.3:c.408T>C, XM_011529550.2:c.408T>C, XM_011529550.1:c.408T>C

Select item 14598050267.

rs1459805026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:13610365 (GRCh38)
21:14982686 (GRCh37)
Canonical SPDI:: NC_000021.9:13610364:C:G
Gene:: POTED (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000021.9:g.13610365C>G, NC_000021.8:g.14982686C>G, NM_174981.6:c.137C>G, NM_174981.5:c.137C>G, NM_174981.4:c.137C>G, NM_174981.3:c.137C>G, XM_006723997.4:c.137C>G, XM_006723997.3:c.137C>G, XM_006723997.2:c.137C>G, XM_006723997.1:c.137C>G, XM_011529550.3:c.137C>G, XM_011529550.2:c.137C>G, XM_011529550.1:c.137C>G, NP_778146.2:p.Ser46Cys, XP_006724060.1:p.Ser46Cys, XP_011527852.1:p.Ser46Cys

Select item 14576964098.

rs1457696409 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:13610664 (GRCh38)
21:14982985 (GRCh37)
Canonical SPDI:: NC_000021.9:13610663:G:A
Gene:: POTED (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000021.9:g.13610664G>A, NC_000021.8:g.14982985G>A, NM_174981.6:c.436G>A, NM_174981.5:c.436G>A, NM_174981.4:c.436G>A, NM_174981.3:c.436G>A, XM_006723997.4:c.436G>A, XM_006723997.3:c.436G>A, XM_006723997.2:c.436G>A, XM_006723997.1:c.436G>A, XM_011529550.3:c.436G>A, XM_011529550.2:c.436G>A, XM_011529550.1:c.436G>A, NP_778146.2:p.Ala146Thr, XP_006724060.1:p.Ala146Thr, XP_011527852.1:p.Ala146Thr

Select item 14516571119.

rs1451657111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:13610597 (GRCh38)
21:14982918 (GRCh37)
Canonical SPDI:: NC_000021.9:13610596:C:A
Gene:: POTED (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.13610597C>A, NC_000021.8:g.14982918C>A, NM_174981.6:c.369C>A, NM_174981.5:c.369C>A, NM_174981.4:c.369C>A, NM_174981.3:c.369C>A, XM_006723997.4:c.369C>A, XM_006723997.3:c.369C>A, XM_006723997.2:c.369C>A, XM_006723997.1:c.369C>A, XM_011529550.3:c.369C>A, XM_011529550.2:c.369C>A, XM_011529550.1:c.369C>A, NP_778146.2:p.Tyr123Ter, XP_006724060.1:p.Tyr123Ter, XP_011527852.1:p.Tyr123Ter

Select item 145052835510.

rs1450528355 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:13610569 (GRCh38)
21:14982890 (GRCh37)
Canonical SPDI:: NC_000021.9:13610568:A:C
Gene:: POTED (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.00001/1 (GnomAD)
HGVS:: NC_000021.9:g.13610569A>C, NC_000021.8:g.14982890A>C, NM_174981.6:c.341A>C, NM_174981.5:c.341A>C, NM_174981.4:c.341A>C, NM_174981.3:c.341A>C, XM_006723997.4:c.341A>C, XM_006723997.3:c.341A>C, XM_006723997.2:c.341A>C, XM_006723997.1:c.341A>C, XM_011529550.3:c.341A>C, XM_011529550.2:c.341A>C, XM_011529550.1:c.341A>C, NP_778146.2:p.Lys114Thr, XP_006724060.1:p.Lys114Thr, XP_011527852.1:p.Lys114Thr

Select item 143898334811.

rs1438983348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:13610699 (GRCh38)
21:14983020 (GRCh37)
Canonical SPDI:: NC_000021.9:13610698:C:T
Gene:: POTED (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.13610699C>T, NC_000021.8:g.14983020C>T, NM_174981.6:c.471C>T, NM_174981.5:c.471C>T, NM_174981.4:c.471C>T, NM_174981.3:c.471C>T, XM_006723997.4:c.471C>T, XM_006723997.3:c.471C>T, XM_006723997.2:c.471C>T, XM_006723997.1:c.471C>T, XM_011529550.3:c.471C>T, XM_011529550.2:c.471C>T, XM_011529550.1:c.471C>T

Select item 143560625012.

rs1435606250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:13610613 (GRCh38)
21:14982934 (GRCh37)
Canonical SPDI:: NC_000021.9:13610612:A:G
Gene:: POTED (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/3 (GnomAD_exomes)
G=0.00004/3 (GnomAD)
HGVS:: NC_000021.9:g.13610613A>G, NC_000021.8:g.14982934A>G, NM_174981.6:c.385A>G, NM_174981.5:c.385A>G, NM_174981.4:c.385A>G, NM_174981.3:c.385A>G, XM_006723997.4:c.385A>G, XM_006723997.3:c.385A>G, XM_006723997.2:c.385A>G, XM_006723997.1:c.385A>G, XM_011529550.3:c.385A>G, XM_011529550.2:c.385A>G, XM_011529550.1:c.385A>G, NP_778146.2:p.Met129Val, XP_006724060.1:p.Met129Val, XP_011527852.1:p.Met129Val

Select item 143542859813.

rs1435428598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:13610695 (GRCh38)
21:14983016 (GRCh37)
Canonical SPDI:: NC_000021.9:13610694:A:G
Gene:: POTED (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000021.9:g.13610695A>G, NC_000021.8:g.14983016A>G, NM_174981.6:c.467A>G, NM_174981.5:c.467A>G, NM_174981.4:c.467A>G, NM_174981.3:c.467A>G, XM_006723997.4:c.467A>G, XM_006723997.3:c.467A>G, XM_006723997.2:c.467A>G, XM_006723997.1:c.467A>G, XM_011529550.3:c.467A>G, XM_011529550.2:c.467A>G, XM_011529550.1:c.467A>G, NP_778146.2:p.Asp156Gly, XP_006724060.1:p.Asp156Gly, XP_011527852.1:p.Asp156Gly

Select item 143424149114.

rs1434241491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:13610488 (GRCh38)
21:14982809 (GRCh37)
Canonical SPDI:: NC_000021.9:13610487:A:G
Gene:: POTED (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.13610488A>G, NC_000021.8:g.14982809A>G, NM_174981.6:c.260A>G, NM_174981.5:c.260A>G, NM_174981.4:c.260A>G, NM_174981.3:c.260A>G, XM_006723997.4:c.260A>G, XM_006723997.3:c.260A>G, XM_006723997.2:c.260A>G, XM_006723997.1:c.260A>G, XM_011529550.3:c.260A>G, XM_011529550.2:c.260A>G, XM_011529550.1:c.260A>G, NP_778146.2:p.Glu87Gly, XP_006724060.1:p.Glu87Gly, XP_011527852.1:p.Glu87Gly

Select item 143178413115.

rs1431784131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:13610350 (GRCh38)
21:14982671 (GRCh37)
Canonical SPDI:: NC_000021.9:13610349:G:C
Gene:: POTED (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000021.9:g.13610350G>C, NC_000021.8:g.14982671G>C, NM_174981.6:c.122G>C, NM_174981.5:c.122G>C, NM_174981.4:c.122G>C, NM_174981.3:c.122G>C, XM_006723997.4:c.122G>C, XM_006723997.3:c.122G>C, XM_006723997.2:c.122G>C, XM_006723997.1:c.122G>C, XM_011529550.3:c.122G>C, XM_011529550.2:c.122G>C, XM_011529550.1:c.122G>C, NP_778146.2:p.Ser41Thr, XP_006724060.1:p.Ser41Thr, XP_011527852.1:p.Ser41Thr

Select item 143115278716.

rs1431152787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:13629869 (GRCh38)
21:15002190 (GRCh37)
Canonical SPDI:: NC_000021.9:13629868:A:T
Gene:: POTED (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00078/5 (1000Genomes)
HGVS:: NC_000021.9:g.13629869A>T, NC_000021.8:g.15002190A>T, NM_174981.6:c.1211A>T, NM_174981.5:c.1211A>T, NM_174981.4:c.1211A>T, NM_174981.3:c.1211A>T, XM_006723997.4:c.1140A>T, XM_006723997.3:c.1140A>T, XM_006723997.2:c.1140A>T, XM_006723997.1:c.1140A>T, NP_778146.2:p.Glu404Val, XP_006724060.1:p.Arg380Ser

Select item 143074899117.

rs1430748991 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:13610477 (GRCh38)
21:14982798 (GRCh37)
Canonical SPDI:: NC_000021.9:13610476:T:G
Gene:: POTED (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000021.9:g.13610477T>G, NC_000021.8:g.14982798T>G, NM_174981.6:c.249T>G, NM_174981.5:c.249T>G, NM_174981.4:c.249T>G, NM_174981.3:c.249T>G, XM_006723997.4:c.249T>G, XM_006723997.3:c.249T>G, XM_006723997.2:c.249T>G, XM_006723997.1:c.249T>G, XM_011529550.3:c.249T>G, XM_011529550.2:c.249T>G, XM_011529550.1:c.249T>G

Select item 142951292818.

rs1429512928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:13610742 (GRCh38)
21:14983063 (GRCh37)
Canonical SPDI:: NC_000021.9:13610741:G:A,NC_000021.9:13610741:G:C
Gene:: POTED (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.1109/324 (KOREAN)
HGVS:: NC_000021.9:g.13610742G>A, NC_000021.9:g.13610742G>C, NC_000021.8:g.14983063G>A, NC_000021.8:g.14983063G>C, NM_174981.6:c.514G>A, NM_174981.6:c.514G>C, NM_174981.5:c.514G>A, NM_174981.5:c.514G>C, NM_174981.4:c.514G>A, NM_174981.4:c.514G>C, NM_174981.3:c.514G>A, NM_174981.3:c.514G>C, XM_006723997.4:c.514G>A, XM_006723997.4:c.514G>C, XM_006723997.3:c.514G>A, XM_006723997.3:c.514G>C, XM_006723997.2:c.514G>A, XM_006723997.2:c.514G>C, XM_006723997.1:c.514G>A, XM_006723997.1:c.514G>C, XM_011529550.3:c.514G>A, XM_011529550.3:c.514G>C, XM_011529550.2:c.514G>A, XM_011529550.2:c.514G>C, XM_011529550.1:c.514G>A, XM_011529550.1:c.514G>C, NP_778146.2:p.Glu172Lys, NP_778146.2:p.Glu172Gln, XP_006724060.1:p.Glu172Lys, XP_006724060.1:p.Glu172Gln, XP_011527852.1:p.Glu172Lys, XP_011527852.1:p.Glu172Gln

Select item 142747690419.

rs1427476904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:13610646 (GRCh38)
21:14982967 (GRCh37)
Canonical SPDI:: NC_000021.9:13610645:C:A
Gene:: POTED (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.13610646C>A, NC_000021.8:g.14982967C>A, NM_174981.6:c.418C>A, NM_174981.5:c.418C>A, NM_174981.4:c.418C>A, NM_174981.3:c.418C>A, XM_006723997.4:c.418C>A, XM_006723997.3:c.418C>A, XM_006723997.2:c.418C>A, XM_006723997.1:c.418C>A, XM_011529550.3:c.418C>A, XM_011529550.2:c.418C>A, XM_011529550.1:c.418C>A, NP_778146.2:p.Leu140Met, XP_006724060.1:p.Leu140Met, XP_011527852.1:p.Leu140Met

Select item 142605778420.

rs1426057784 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:13610472 (GRCh38)
21:14982793 (GRCh37)
Canonical SPDI:: NC_000021.9:13610471:A:G
Gene:: POTED (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000021.9:g.13610472A>G, NC_000021.8:g.14982793A>G, NM_174981.6:c.244A>G, NM_174981.5:c.244A>G, NM_174981.4:c.244A>G, NM_174981.3:c.244A>G, XM_006723997.4:c.244A>G, XM_006723997.3:c.244A>G, XM_006723997.2:c.244A>G, XM_006723997.1:c.244A>G, XM_011529550.3:c.244A>G, XM_011529550.2:c.244A>G, XM_011529550.1:c.244A>G, NP_778146.2:p.Thr82Ala, XP_006724060.1:p.Thr82Ala, XP_011527852.1:p.Thr82Ala

dbSNP

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