SNP Links for Protein (Select 4507813) - SNP

Links from Protein

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Select item 14896184541.

rs1489618454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:39514121 (GRCh38)
4:39515741 (GRCh37)
Canonical SPDI:: NC_000004.12:39514120:C:A
Gene:: UGDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000004.12:g.39514121C>A, NC_000004.11:g.39515741C>A, XM_005262667.4:c.265G>T, XM_005262667.3:c.265G>T, XM_005262667.2:c.265G>T, XM_005262667.1:c.265G>T, NM_003359.4:c.226G>T, NM_003359.3:c.226G>T, NM_001184701.2:c.-66G>T, NM_001184701.1:c.-66G>T, NM_001184700.2:c.226G>T, NM_001184700.1:c.226G>T, XP_005262724.1:p.Asp89Tyr, NP_003350.1:p.Asp76Tyr, NP_001171629.1:p.Asp76Tyr

Select item 14881575372.

rs1488157537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:39505274 (GRCh38)
4:39506894 (GRCh37)
Canonical SPDI:: NC_000004.12:39505273:C:T
Gene:: UGDH (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.39505274C>T, NC_000004.11:g.39506894C>T, XM_005262667.4:c.1173G>A, XM_005262667.3:c.1173G>A, XM_005262667.2:c.1173G>A, XM_005262667.1:c.1173G>A, NM_003359.4:c.1134G>A, NM_003359.3:c.1134G>A, NM_001184701.2:c.843G>A, NM_001184701.1:c.843G>A, NM_001184700.2:c.933G>A, NM_001184700.1:c.933G>A

Select item 14821431503.

rs1482143150 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:39504459 (GRCh38)
4:39506079 (GRCh37)
Canonical SPDI:: NC_000004.12:39504458:A:G
Gene:: UGDH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.39504459A>G, NC_000004.11:g.39506079A>G, XM_005262667.4:c.1260T>C, XM_005262667.3:c.1260T>C, XM_005262667.2:c.1260T>C, XM_005262667.1:c.1260T>C, NM_003359.4:c.1221T>C, NM_003359.3:c.1221T>C, NM_001184701.2:c.930T>C, NM_001184701.1:c.930T>C, NM_001184700.2:c.1020T>C, NM_001184700.1:c.1020T>C

Select item 14813722234.

rs1481372223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:39504502 (GRCh38)
4:39506122 (GRCh37)
Canonical SPDI:: NC_000004.12:39504501:C:T
Gene:: UGDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.39504502C>T, NC_000004.11:g.39506122C>T, XM_005262667.4:c.1217G>A, XM_005262667.3:c.1217G>A, XM_005262667.2:c.1217G>A, XM_005262667.1:c.1217G>A, NM_003359.4:c.1178G>A, NM_003359.3:c.1178G>A, NM_001184701.2:c.887G>A, NM_001184701.1:c.887G>A, NM_001184700.2:c.977G>A, NM_001184700.1:c.977G>A, XP_005262724.1:p.Arg406Gln, NP_003350.1:p.Arg393Gln, NP_001171630.1:p.Arg296Gln, NP_001171629.1:p.Arg326Gln

Select item 14797829655.

rs1479782965 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:39505335 (GRCh38)
4:39506955 (GRCh37)
Canonical SPDI:: NC_000004.12:39505334:A:G
Gene:: UGDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.39505335A>G, NC_000004.11:g.39506955A>G, XM_005262667.4:c.1112T>C, XM_005262667.3:c.1112T>C, XM_005262667.2:c.1112T>C, XM_005262667.1:c.1112T>C, NM_003359.4:c.1073T>C, NM_003359.3:c.1073T>C, NM_001184701.2:c.782T>C, NM_001184701.1:c.782T>C, NM_001184700.2:c.872T>C, NM_001184700.1:c.872T>C, XP_005262724.1:p.Met371Thr, NP_003350.1:p.Met358Thr, NP_001171630.1:p.Met261Thr, NP_001171629.1:p.Met291Thr

Select item 14778414586.

rs1477841458 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:39505316 (GRCh38)
4:39506936 (GRCh37)
Canonical SPDI:: NC_000004.12:39505315:T:C
Gene:: UGDH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.39505316T>C, NC_000004.11:g.39506936T>C, XM_005262667.4:c.1131A>G, XM_005262667.3:c.1131A>G, XM_005262667.2:c.1131A>G, XM_005262667.1:c.1131A>G, NM_003359.4:c.1092A>G, NM_003359.3:c.1092A>G, NM_001184701.2:c.801A>G, NM_001184701.1:c.801A>G, NM_001184700.2:c.891A>G, NM_001184700.1:c.891A>G

Select item 14751163447.

rs1475116344 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:39510398 (GRCh38)
4:39512018 (GRCh37)
Canonical SPDI:: NC_000004.12:39510397:T:C
Gene:: UGDH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.39510398T>C, NC_000004.11:g.39512018T>C, XM_005262667.4:c.657A>G, XM_005262667.3:c.657A>G, XM_005262667.2:c.657A>G, XM_005262667.1:c.657A>G, NM_003359.4:c.618A>G, NM_003359.3:c.618A>G, NM_001184701.2:c.327A>G, NM_001184701.1:c.327A>G, NM_001184700.2:c.417A>G, NM_001184700.1:c.417A>G

Select item 14726863848.

rs1472686384 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:39505644 (GRCh38)
4:39507264 (GRCh37)
Canonical SPDI:: NC_000004.12:39505643:T:A
Gene:: UGDH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.39505644T>A, NC_000004.11:g.39507264T>A, XM_005262667.4:c.1050A>T, XM_005262667.3:c.1050A>T, XM_005262667.2:c.1050A>T, XM_005262667.1:c.1050A>T, NM_003359.4:c.1011A>T, NM_003359.3:c.1011A>T, NM_001184701.2:c.720A>T, NM_001184701.1:c.720A>T, NM_001184700.2:c.810A>T, NM_001184700.1:c.810A>T

Select item 14692177659.

rs1469217765 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:39500198 (GRCh38)
4:39501818 (GRCh37)
Canonical SPDI:: NC_000004.12:39500197:CC:C
Gene:: UGDH (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.39500199del, NC_000004.11:g.39501819del, XM_005262667.4:c.1469del, XM_005262667.3:c.1469del, XM_005262667.2:c.1469del, XM_005262667.1:c.1469del, NM_003359.4:c.1430del, NM_003359.3:c.1430del, NM_001184701.2:c.1139del, NM_001184701.1:c.1139del, NM_001184700.2:c.1229del, NM_001184700.1:c.1229del, XP_005262724.1:p.Gly490fs, NP_003350.1:p.Gly477fs, NP_001171630.1:p.Gly380fs, NP_001171629.1:p.Gly410fs

Select item 146491688010.

rs1464916880 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:39508634 (GRCh38)
4:39510254 (GRCh37)
Canonical SPDI:: NC_000004.12:39508633:CC:C
Gene:: UGDH (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.39508635del, NC_000004.11:g.39510255del, XM_005262667.4:c.877del, XM_005262667.3:c.877del, XM_005262667.2:c.877del, XM_005262667.1:c.877del, NM_003359.4:c.838del, NM_003359.3:c.838del, NM_001184701.2:c.547del, NM_001184701.1:c.547del, NM_001184700.2:c.637del, NM_001184700.1:c.637del, XP_005262724.1:p.Asp293fs, NP_003350.1:p.Asp280fs, NP_001171630.1:p.Asp183fs, NP_001171629.1:p.Asp213fs

Select item 146429510011.

rs1464295100 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:39505744 (GRCh38)
4:39507364 (GRCh37)
Canonical SPDI:: NC_000004.12:39505743:A:G
Gene:: UGDH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.39505744A>G, NC_000004.11:g.39507364A>G, XM_005262667.4:c.950T>C, XM_005262667.3:c.950T>C, XM_005262667.2:c.950T>C, XM_005262667.1:c.950T>C, NM_003359.4:c.911T>C, NM_003359.3:c.911T>C, NM_001184701.2:c.620T>C, NM_001184701.1:c.620T>C, NM_001184700.2:c.710T>C, NM_001184700.1:c.710T>C, XP_005262724.1:p.Ile317Thr, NP_003350.1:p.Ile304Thr, NP_001171630.1:p.Ile207Thr, NP_001171629.1:p.Ile237Thr

Select item 146314255512.

rs1463142555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:39510416 (GRCh38)
4:39512036 (GRCh37)
Canonical SPDI:: NC_000004.12:39510415:C:A
Gene:: UGDH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.39510416C>A, NC_000004.11:g.39512036C>A, XM_005262667.4:c.639G>T, XM_005262667.3:c.639G>T, XM_005262667.2:c.639G>T, XM_005262667.1:c.639G>T, NM_003359.4:c.600G>T, NM_003359.3:c.600G>T, NM_001184701.2:c.309G>T, NM_001184701.1:c.309G>T, NM_001184700.2:c.399G>T, NM_001184700.1:c.399G>T, XP_005262724.1:p.Glu213Asp, NP_003350.1:p.Glu200Asp, NP_001171630.1:p.Glu103Asp, NP_001171629.1:p.Glu133Asp

Select item 146280551413.

rs1462805514 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAT [Show Flanks]
Chromosome:: 4:39500170 (GRCh38)
4:39501791 (GRCh37)
Canonical SPDI:: NC_000004.12:39500170::AAT
Gene:: UGDH (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel
Validated:: by frequency,by alfa,by cluster
MAF:: AAT=0./0 (ALFA)
AAT=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.39500170_39500171insAAT, NC_000004.11:g.39501790_39501791insAAT, XM_005262667.4:c.1496_1497insATT, XM_005262667.3:c.1496_1497insATT, XM_005262667.2:c.1496_1497insATT, XM_005262667.1:c.1496_1497insATT, NM_003359.4:c.1457_1458insATT, NM_003359.3:c.1457_1458insATT, NM_001184701.2:c.1166_1167insATT, NM_001184701.1:c.1166_1167insATT, NM_001184700.2:c.1256_1257insATT, NM_001184700.1:c.1256_1257insATT, XP_005262724.1:p.Asp499delinsGluPhe, NP_003350.1:p.Asp486delinsGluPhe, NP_001171630.1:p.Asp389delinsGluPhe, NP_001171629.1:p.Asp419delinsGluPhe

Select item 146122603914.

rs1461226039 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:39505266 (GRCh38)
4:39506886 (GRCh37)
Canonical SPDI:: NC_000004.12:39505265:G:T
Gene:: UGDH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.39505266G>T, NC_000004.11:g.39506886G>T, XM_005262667.4:c.1181C>A, XM_005262667.3:c.1181C>A, XM_005262667.2:c.1181C>A, XM_005262667.1:c.1181C>A, NM_003359.4:c.1142C>A, NM_003359.3:c.1142C>A, NM_001184701.2:c.851C>A, NM_001184701.1:c.851C>A, NM_001184700.2:c.941C>A, NM_001184700.1:c.941C>A, XP_005262724.1:p.Ser394Tyr, NP_003350.1:p.Ser381Tyr, NP_001171630.1:p.Ser284Tyr, NP_001171629.1:p.Ser314Tyr

Select item 145703553215.

rs1457035532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:39509832 (GRCh38)
4:39511452 (GRCh37)
Canonical SPDI:: NC_000004.12:39509831:C:T
Gene:: UGDH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.39509832C>T, NC_000004.11:g.39511452C>T, XM_005262667.4:c.778G>A, XM_005262667.3:c.778G>A, XM_005262667.2:c.778G>A, XM_005262667.1:c.778G>A, NM_003359.4:c.739G>A, NM_003359.3:c.739G>A, NM_001184701.2:c.448G>A, NM_001184701.1:c.448G>A, NM_001184700.2:c.538G>A, NM_001184700.1:c.538G>A, XP_005262724.1:p.Asp260Asn, NP_003350.1:p.Asp247Asn, NP_001171630.1:p.Asp150Asn, NP_001171629.1:p.Asp180Asn

Select item 145401774716.

rs1454017747 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:39514180 (GRCh38)
4:39515800 (GRCh37)
Canonical SPDI:: NC_000004.12:39514179:CC:C
Gene:: UGDH (Varview)
Functional Consequence:: 5_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.39514181del, NC_000004.11:g.39515801del, XM_005262667.4:c.206del, XM_005262667.3:c.206del, XM_005262667.2:c.206del, XM_005262667.1:c.206del, NM_003359.4:c.167del, NM_003359.3:c.167del, NM_001184701.2:c.-125del, NM_001184701.1:c.-125del, NM_001184700.2:c.167del, NM_001184700.1:c.167del, XP_005262724.1:p.Gly69fs, NP_003350.1:p.Gly56fs, NP_001171629.1:p.Gly56fs

Select item 145309433517.

rs1453094335 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:39509841 (GRCh38)
4:39511461 (GRCh37)
Canonical SPDI:: NC_000004.12:39509840:T:C
Gene:: UGDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000004.12:g.39509841T>C, NC_000004.11:g.39511461T>C, XM_005262667.4:c.769A>G, XM_005262667.3:c.769A>G, XM_005262667.2:c.769A>G, XM_005262667.1:c.769A>G, NM_003359.4:c.730A>G, NM_003359.3:c.730A>G, NM_001184701.2:c.439A>G, NM_001184701.1:c.439A>G, NM_001184700.2:c.529A>G, NM_001184700.1:c.529A>G, XP_005262724.1:p.Thr257Ala, NP_003350.1:p.Thr244Ala, NP_001171630.1:p.Thr147Ala, NP_001171629.1:p.Thr177Ala

Select item 145041064018.

rs1450410640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:39510692 (GRCh38)
4:39512312 (GRCh37)
Canonical SPDI:: NC_000004.12:39510691:T:A
Gene:: UGDH (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.39510692T>A, NC_000004.11:g.39512312T>A, XM_005262667.4:c.473A>T, XM_005262667.3:c.473A>T, XM_005262667.2:c.473A>T, XM_005262667.1:c.473A>T, NM_003359.4:c.434A>T, NM_003359.3:c.434A>T, NM_001184701.2:c.143A>T, NM_001184701.1:c.143A>T, XP_005262724.1:p.Asp158Val, NP_003350.1:p.Asp145Val, NP_001171630.1:p.Asp48Val

Select item 145023037619.

rs1450230376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:39509889 (GRCh38)
4:39511509 (GRCh37)
Canonical SPDI:: NC_000004.12:39509888:C:A,NC_000004.12:39509888:C:T
Gene:: UGDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00003/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.39509889C>A, NC_000004.12:g.39509889C>T, NC_000004.11:g.39511509C>A, NC_000004.11:g.39511509C>T, XM_005262667.4:c.721G>T, XM_005262667.4:c.721G>A, XM_005262667.3:c.721G>T, XM_005262667.3:c.721G>A, XM_005262667.2:c.721G>T, XM_005262667.2:c.721G>A, XM_005262667.1:c.721G>T, XM_005262667.1:c.721G>A, NM_003359.4:c.682G>T, NM_003359.4:c.682G>A, NM_003359.3:c.682G>T, NM_003359.3:c.682G>A, NM_001184701.2:c.391G>T, NM_001184701.2:c.391G>A, NM_001184701.1:c.391G>T, NM_001184701.1:c.391G>A, NM_001184700.2:c.481G>T, NM_001184700.2:c.481G>A, NM_001184700.1:c.481G>T, NM_001184700.1:c.481G>A, XP_005262724.1:p.Ala241Ser, XP_005262724.1:p.Ala241Thr, NP_003350.1:p.Ala228Ser, NP_003350.1:p.Ala228Thr, NP_001171630.1:p.Ala131Ser, NP_001171630.1:p.Ala131Thr, NP_001171629.1:p.Ala161Ser, NP_001171629.1:p.Ala161Thr

Select item 144977127620.

rs1449771276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:39510676 (GRCh38)
4:39512296 (GRCh37)
Canonical SPDI:: NC_000004.12:39510675:G:A
Gene:: UGDH (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.39510676G>A, NC_000004.11:g.39512296G>A, XM_005262667.4:c.489C>T, XM_005262667.3:c.489C>T, XM_005262667.2:c.489C>T, XM_005262667.1:c.489C>T, NM_003359.4:c.450C>T, NM_003359.3:c.450C>T, NM_001184701.2:c.159C>T, NM_001184701.1:c.159C>T

dbSNP

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