SNP Links for Protein (Select 32189425) - SNP

Links from Protein

Items: 1 to 20 of 436

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Select item 14905422271.

rs1490542227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:227921437 (GRCh38)
2:228786153 (GRCh37)
Canonical SPDI:: NC_000002.12:227921436:C:A
Gene:: DAW1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_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.227921437C>A, NC_000002.11:g.228786153C>A, NM_178821.3:c.1089C>A, NM_178821.2:c.1089C>A, NM_178821.1:c.1089C>A, NR_138459.2:n.1364C>A, NR_138459.1:n.1619C>A, NM_001330004.2:c.1044C>A, NM_001330004.1:c.1044C>A, XM_047443536.1:c.1044C>A

Select item 14905375872.

rs1490537587 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:227906274 (GRCh38)
2:228770990 (GRCh37)
Canonical SPDI:: NC_000002.12:227906273:G:A
Gene:: DAW1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.227906274G>A, NC_000002.11:g.228770990G>A, NM_178821.3:c.794G>A, NM_178821.2:c.794G>A, NM_178821.1:c.794G>A, NR_138459.2:n.853G>A, NR_138459.1:n.1108G>A, NM_001330004.2:c.749G>A, NM_001330004.1:c.749G>A, XM_047443536.1:c.749G>A, NP_849143.1:p.Ser265Asn, NP_001316933.1:p.Ser250Asn, XP_047299492.1:p.Ser250Asn

Select item 14905328703.

rs1490532870 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:227906319 (GRCh38)
2:228771035 (GRCh37)
Canonical SPDI:: NC_000002.12:227906318:C:T
Gene:: DAW1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.227906319C>T, NC_000002.11:g.228771035C>T, NM_178821.3:c.839C>T, NM_178821.2:c.839C>T, NM_178821.1:c.839C>T, NR_138459.2:n.898C>T, NR_138459.1:n.1153C>T, NM_001330004.2:c.794C>T, NM_001330004.1:c.794C>T, XM_047443536.1:c.794C>T, NP_849143.1:p.Ser280Phe, NP_001316933.1:p.Ser265Phe, XP_047299492.1:p.Ser265Phe

Select item 14884684974.

rs1488468497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:227906264 (GRCh38)
2:228770980 (GRCh37)
Canonical SPDI:: NC_000002.12:227906263:G:A
Gene:: DAW1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.227906264G>A, NC_000002.11:g.228770980G>A, NM_178821.3:c.784G>A, NM_178821.2:c.784G>A, NM_178821.1:c.784G>A, NR_138459.2:n.843G>A, NR_138459.1:n.1098G>A, NM_001330004.2:c.739G>A, NM_001330004.1:c.739G>A, XM_047443536.1:c.739G>A, NP_849143.1:p.Ala262Thr, NP_001316933.1:p.Ala247Thr, XP_047299492.1:p.Ala247Thr

Select item 14859527925.

rs1485952792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:227907151 (GRCh38)
2:228771867 (GRCh37)
Canonical SPDI:: NC_000002.12:227907150:C:T
Gene:: DAW1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.227907151C>T, NC_000002.11:g.228771867C>T, NM_178821.3:c.872C>T, NM_178821.2:c.872C>T, NM_178821.1:c.872C>T, NR_138459.2:n.931C>T, NR_138459.1:n.1186C>T, NM_001330004.2:c.827C>T, NM_001330004.1:c.827C>T, XM_047443536.1:c.827C>T, NP_849143.1:p.Thr291Ile, NP_001316933.1:p.Thr276Ile, XP_047299492.1:p.Thr276Ile

Select item 14838193546.

rs1483819354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:227885401 (GRCh38)
2:228750117 (GRCh37)
Canonical SPDI:: NC_000002.12:227885400:G:A
Gene:: DAW1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.227885401G>A, NC_000002.11:g.228750117G>A, NM_178821.3:c.91G>A, NM_178821.2:c.91G>A, NM_178821.1:c.91G>A, NR_138459.2:n.150G>A, NR_138459.1:n.405G>A, NM_001330004.2:c.46G>A, NM_001330004.1:c.46G>A, XM_047443536.1:c.46G>A, NP_849143.1:p.Asp31Asn, NP_001316933.1:p.Asp16Asn, XP_047299492.1:p.Asp16Asn

Select item 14807703997.

rs1480770399 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:227921538 (GRCh38)
2:228786255 (GRCh37)
Canonical SPDI:: NC_000002.12:227921538:T:TT
Gene:: DAW1 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.227921539dup, NC_000002.11:g.228786255dup, NM_178821.3:c.1191dup, NM_178821.2:c.1191dup, NM_178821.1:c.1191dup, NR_138459.2:n.1466dup, NR_138459.1:n.1721dup, NM_001330004.2:c.1146dup, NM_001330004.1:c.1146dup, XM_047443536.1:c.1146dup, NP_849143.1:p.Lys398Ter, NP_001316933.1:p.Lys383Ter, XP_047299492.1:p.Lys383Ter

Select item 14806244468.

rs1480624446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:227918807 (GRCh38)
2:228783523 (GRCh37)
Canonical SPDI:: NC_000002.12:227918806:C:A,NC_000002.12:227918806:C:T
Gene:: DAW1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.227918807C>A, NC_000002.12:g.227918807C>T, NC_000002.11:g.228783523C>A, NC_000002.11:g.228783523C>T, NM_178821.3:c.1001C>A, NM_178821.3:c.1001C>T, NM_178821.2:c.1001C>A, NM_178821.2:c.1001C>T, NM_178821.1:c.1001C>A, NM_178821.1:c.1001C>T, NR_138459.2:n.1276C>A, NR_138459.2:n.1276C>T, NR_138459.1:n.1531C>A, NR_138459.1:n.1531C>T, NM_001330004.2:c.956C>A, NM_001330004.2:c.956C>T, NM_001330004.1:c.956C>A, NM_001330004.1:c.956C>T, XM_047443536.1:c.956C>A, XM_047443536.1:c.956C>T, NP_849143.1:p.Thr334Lys, NP_849143.1:p.Thr334Ile, NP_001316933.1:p.Thr319Lys, NP_001316933.1:p.Thr319Ile, XP_047299492.1:p.Thr319Lys, XP_047299492.1:p.Thr319Ile

Select item 14783507999.

rs1478350799 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:227903099 (GRCh38)
2:228767815 (GRCh37)
Canonical SPDI:: NC_000002.12:227903098:A:G
Gene:: DAW1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.227903099A>G, NC_000002.11:g.228767815A>G, NM_178821.3:c.638A>G, NM_178821.2:c.638A>G, NM_178821.1:c.638A>G, NR_138459.2:n.697A>G, NR_138459.1:n.952A>G, NM_001330004.2:c.593A>G, NM_001330004.1:c.593A>G, XM_047443536.1:c.593A>G, NP_849143.1:p.Tyr213Cys, NP_001316933.1:p.Tyr198Cys, XP_047299492.1:p.Tyr198Cys

Select item 147825617310.

rs1478256173 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:227898281 (GRCh38)
2:228762997 (GRCh37)
Canonical SPDI:: NC_000002.12:227898280:A:C,NC_000002.12:227898280:A:G
Gene:: DAW1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.227898281A>C, NC_000002.12:g.227898281A>G, NC_000002.11:g.228762997A>C, NC_000002.11:g.228762997A>G, NM_178821.3:c.540A>C, NM_178821.3:c.540A>G, NM_178821.2:c.540A>C, NM_178821.2:c.540A>G, NM_178821.1:c.540A>C, NM_178821.1:c.540A>G, NR_138459.2:n.599A>C, NR_138459.2:n.599A>G, NR_138459.1:n.854A>C, NR_138459.1:n.854A>G, NM_001330004.2:c.495A>C, NM_001330004.2:c.495A>G, NM_001330004.1:c.495A>C, NM_001330004.1:c.495A>G, XM_047443536.1:c.495A>C, XM_047443536.1:c.495A>G, NP_849143.1:p.Ile180Met, NP_001316933.1:p.Ile165Met, XP_047299492.1:p.Ile165Met

Select item 147532661111.

rs1475326611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:227923950 (GRCh38)
2:228788666 (GRCh37)
Canonical SPDI:: NC_000002.12:227923949:C:T
Gene:: DAW1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.227923950C>T, NC_000002.11:g.228788666C>T, NM_178821.3:c.1230C>T, NM_178821.2:c.1230C>T, NM_178821.1:c.1230C>T, NR_138459.2:n.1505C>T, NR_138459.1:n.1760C>T, NM_001330004.2:c.1185C>T, NM_001330004.1:c.1185C>T, XM_047443536.1:c.1185C>T

Select item 147413215212.

rs1474132152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:227889978 (GRCh38)
2:228754694 (GRCh37)
Canonical SPDI:: NC_000002.12:227889977:A:G
Gene:: DAW1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.227889978A>G, NC_000002.11:g.228754694A>G, NM_178821.3:c.236A>G, NM_178821.2:c.236A>G, NM_178821.1:c.236A>G, NR_138459.2:n.295A>G, NR_138459.1:n.550A>G, NM_001330004.2:c.191A>G, NM_001330004.1:c.191A>G, XM_047443536.1:c.191A>G, NP_849143.1:p.Asn79Ser, NP_001316933.1:p.Asn64Ser, XP_047299492.1:p.Asn64Ser

Select item 147114419313.

rs1471144193 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:227921550 (GRCh38)
2:228786266 (GRCh37)
Canonical SPDI:: NC_000002.12:227921549:T:C
Gene:: DAW1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.227921550T>C, NC_000002.11:g.228786266T>C, NM_178821.3:c.1202T>C, NM_178821.2:c.1202T>C, NM_178821.1:c.1202T>C, NR_138459.2:n.1477T>C, NR_138459.1:n.1732T>C, NM_001330004.2:c.1157T>C, NM_001330004.1:c.1157T>C, XM_047443536.1:c.1157T>C, NP_849143.1:p.Ile401Thr, NP_001316933.1:p.Ile386Thr, XP_047299492.1:p.Ile386Thr

Select item 147016972714.

rs1470169727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:227907198 (GRCh38)
2:228771914 (GRCh37)
Canonical SPDI:: NC_000002.12:227907197:C:T
Gene:: DAW1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.227907198C>T, NC_000002.11:g.228771914C>T, NM_178821.3:c.919C>T, NM_178821.2:c.919C>T, NM_178821.1:c.919C>T, NR_138459.2:n.978C>T, NR_138459.1:n.1233C>T, NM_001330004.2:c.874C>T, NM_001330004.1:c.874C>T, XM_047443536.1:c.874C>T

Select item 146962782015.

rs1469627820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:227921516 (GRCh38)
2:228786232 (GRCh37)
Canonical SPDI:: NC_000002.12:227921515:A:C
Gene:: DAW1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.227921516A>C, NC_000002.11:g.228786232A>C, NM_178821.3:c.1168A>C, NM_178821.2:c.1168A>C, NM_178821.1:c.1168A>C, NR_138459.2:n.1443A>C, NR_138459.1:n.1698A>C, NM_001330004.2:c.1123A>C, NM_001330004.1:c.1123A>C, XM_047443536.1:c.1123A>C, NP_849143.1:p.Ile390Leu, NP_001316933.1:p.Ile375Leu, XP_047299492.1:p.Ile375Leu

Select item 146725676816.

rs1467256768 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:227903093 (GRCh38)
2:228767809 (GRCh37)
Canonical SPDI:: NC_000002.12:227903092:A:C
Gene:: DAW1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.227903093A>C, NC_000002.11:g.228767809A>C, NM_178821.3:c.632A>C, NM_178821.2:c.632A>C, NM_178821.1:c.632A>C, NR_138459.2:n.691A>C, NR_138459.1:n.946A>C, NM_001330004.2:c.587A>C, NM_001330004.1:c.587A>C, XM_047443536.1:c.587A>C, NP_849143.1:p.Glu211Ala, NP_001316933.1:p.Glu196Ala, XP_047299492.1:p.Glu196Ala

Select item 146011307217.

rs1460113072 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 2:227885376 (GRCh38)
2:228750092 (GRCh37)
Canonical SPDI:: NC_000002.12:227885375:T:
Gene:: DAW1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.227885376del, NC_000002.11:g.228750092del, NM_178821.3:c.66del, NM_178821.2:c.66del, NM_178821.1:c.66del, NR_138459.2:n.125del, NR_138459.1:n.380del, NM_001330004.2:c.21del, NM_001330004.1:c.21del, XM_047443536.1:c.21del, NP_849143.1:p.His22fs, NP_001316933.1:p.His7fs, XP_047299492.1:p.His7fs

Select item 145983913218.

rs1459839132 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:227921555 (GRCh38)
2:228786271 (GRCh37)
Canonical SPDI:: NC_000002.12:227921554:A:G
Gene:: DAW1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.227921555A>G, NC_000002.11:g.228786271A>G, NM_178821.3:c.1207A>G, NM_178821.2:c.1207A>G, NM_178821.1:c.1207A>G, NR_138459.2:n.1482A>G, NR_138459.1:n.1737A>G, NM_001330004.2:c.1162A>G, NM_001330004.1:c.1162A>G, XM_047443536.1:c.1162A>G, NP_849143.1:p.Ile403Val, NP_001316933.1:p.Ile388Val, XP_047299492.1:p.Ile388Val

Select item 145982392919.

rs1459823929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:227921475 (GRCh38)
2:228786191 (GRCh37)
Canonical SPDI:: NC_000002.12:227921474:C:A,NC_000002.12:227921474:C:G
Gene:: DAW1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000074/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.227921475C>A, NC_000002.12:g.227921475C>G, NC_000002.11:g.228786191C>A, NC_000002.11:g.228786191C>G, NM_178821.3:c.1127C>A, NM_178821.3:c.1127C>G, NM_178821.2:c.1127C>A, NM_178821.2:c.1127C>G, NM_178821.1:c.1127C>A, NM_178821.1:c.1127C>G, NR_138459.2:n.1402C>A, NR_138459.2:n.1402C>G, NR_138459.1:n.1657C>A, NR_138459.1:n.1657C>G, NM_001330004.2:c.1082C>A, NM_001330004.2:c.1082C>G, NM_001330004.1:c.1082C>A, NM_001330004.1:c.1082C>G, XM_047443536.1:c.1082C>A, XM_047443536.1:c.1082C>G, NP_849143.1:p.Thr376Asn, NP_849143.1:p.Thr376Ser, NP_001316933.1:p.Thr361Asn, NP_001316933.1:p.Thr361Ser, XP_047299492.1:p.Thr361Asn, XP_047299492.1:p.Thr361Ser

Select item 145804838220.

rs1458048382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:227903010 (GRCh38)
2:228767726 (GRCh37)
Canonical SPDI:: NC_000002.12:227903009:A:G
Gene:: DAW1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.227903010A>G, NC_000002.11:g.228767726A>G, NM_178821.3:c.549A>G, NM_178821.2:c.549A>G, NM_178821.1:c.549A>G, NR_138459.2:n.608A>G, NR_138459.1:n.863A>G, NM_001330004.2:c.504A>G, NM_001330004.1:c.504A>G, XM_047443536.1:c.504A>G

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Links from Protein

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