SNP Links for Protein (Select 55743161) - SNP

Links from Protein

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Select item 14908838831.

rs1490883883 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:19966780 (GRCh38)
2:20166541 (GRCh37)
Canonical SPDI:: NC_000002.12:19966779:T:C
Gene:: WDR35 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.19966780T>C, NC_000002.11:g.20166541T>C, NG_021212.1:g.28344A>G, NM_020779.4:c.1138A>G, NM_020779.3:c.1138A>G, NM_001006657.2:c.1138A>G, NM_001006657.1:c.1138A>G, XR_426989.4:n.1228A>G, XR_426989.3:n.1171A>G, XR_426989.2:n.1171A>G, XR_426989.1:n.1171A>G, XR_939699.4:n.1228A>G, XR_939699.3:n.1171A>G, XR_939699.2:n.1171A>G, XR_939699.1:n.1171A>G, XM_011533007.3:c.-74A>G, XM_011533007.2:c.-74A>G, XM_011533007.1:c.-74A>G, XM_047445199.1:c.1138A>G, NP_065830.2:p.Thr380Ala, NP_001006658.1:p.Thr380Ala, XP_047301155.1:p.Thr380Ala

Select item 14907711272.

rs1490771127 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:19930541 (GRCh38)
2:20130302 (GRCh37)
Canonical SPDI:: NC_000002.12:19930540:GG:G
Gene:: WDR35 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.19930542del, NC_000002.11:g.20130303del, NG_021212.1:g.64583del, NM_020779.4:c.2976del, NM_020779.3:c.2976del, NM_001006657.2:c.3009del, NM_001006657.1:c.3009del, XR_426989.4:n.2966del, XR_426989.3:n.2909del, XR_426989.2:n.2909del, XR_426989.1:n.2909del, XM_011533007.3:c.1704del, XM_011533007.2:c.1704del, XM_011533007.1:c.1704del, NP_065830.2:p.Leu993fs, NP_001006658.1:p.Leu1004fs, XP_011531309.1:p.Leu569fs

Select item 14898760723.

rs1489876072 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:19913708 (GRCh38)
2:20113469 (GRCh37)
Canonical SPDI:: NC_000002.12:19913707:A:C
Gene:: WDR35 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_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_000002.12:g.19913708A>C, NC_000002.11:g.20113469A>C, NG_021212.1:g.81416T>G, NM_020779.4:c.3363T>G, NM_020779.3:c.3363T>G, NM_001006657.2:c.3396T>G, NM_001006657.1:c.3396T>G, XM_011533007.3:c.2091T>G, XM_011533007.2:c.2091T>G, XM_011533007.1:c.2091T>G

Select item 14898551704.

rs1489855170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:19933401 (GRCh38)
2:20133162 (GRCh37)
Canonical SPDI:: NC_000002.12:19933400:T:C
Gene:: WDR35 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.19933401T>C, NC_000002.11:g.20133162T>C, NG_021212.1:g.61723A>G, NM_020779.4:c.2658A>G, NM_020779.3:c.2658A>G, NM_001006657.2:c.2691A>G, NM_001006657.1:c.2691A>G, XR_426989.4:n.2748A>G, XR_426989.3:n.2691A>G, XR_426989.2:n.2691A>G, XR_426989.1:n.2691A>G, XM_011533007.3:c.1386A>G, XM_011533007.2:c.1386A>G, XM_011533007.1:c.1386A>G

Select item 14898413485.

rs1489841348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:19914231 (GRCh38)
2:20113992 (GRCh37)
Canonical SPDI:: NC_000002.12:19914230:G:A
Gene:: WDR35 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.19914231G>A, NC_000002.11:g.20113992G>A, NG_021212.1:g.80893C>T, NM_020779.4:c.3168C>T, NM_020779.3:c.3168C>T, NM_001006657.2:c.3201C>T, NM_001006657.1:c.3201C>T, XM_011533007.3:c.1896C>T, XM_011533007.2:c.1896C>T, XM_011533007.1:c.1896C>T

Select item 14898199866.

rs1489819986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:19930448 (GRCh38)
2:20130209 (GRCh37)
Canonical SPDI:: NC_000002.12:19930447:T:C
Gene:: WDR35 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.19930448T>C, NC_000002.11:g.20130209T>C, NG_021212.1:g.64676A>G, NM_020779.4:c.3069A>G, NM_020779.3:c.3069A>G, NM_001006657.2:c.3102A>G, NM_001006657.1:c.3102A>G, XR_426989.4:n.3059A>G, XR_426989.3:n.3002A>G, XM_011533007.3:c.1797A>G, XM_011533007.2:c.1797A>G, XM_011533007.1:c.1797A>G, NP_065830.2:p.Ile1023Met, NP_001006658.1:p.Ile1034Met, XP_011531309.1:p.Ile599Met

Select item 14893664497.

rs1489366449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:19945900 (GRCh38)
2:20145661 (GRCh37)
Canonical SPDI:: NC_000002.12:19945899:C:T
Gene:: WDR35 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.19945900C>T, NC_000002.11:g.20145661C>T, NG_021212.1:g.49224G>A, NM_020779.4:c.1731G>A, NM_020779.3:c.1731G>A, NM_001006657.2:c.1764G>A, NM_001006657.1:c.1764G>A, XR_426989.4:n.1821G>A, XR_426989.3:n.1764G>A, XR_426989.2:n.1764G>A, XR_426989.1:n.1764G>A, XR_939699.4:n.1821G>A, XR_939699.3:n.1764G>A, XR_939699.2:n.1764G>A, XR_939699.1:n.1764G>A, XM_011533007.3:c.459G>A, XM_011533007.2:c.459G>A, XM_011533007.1:c.459G>A, XM_047445199.1:c.1731G>A

Select item 14892359888.

rs1489235988 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:19935589 (GRCh38)
2:20135350 (GRCh37)
Canonical SPDI:: NC_000002.12:19935588:T:G
Gene:: WDR35 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.19935589T>G, NC_000002.11:g.20135350T>G, NG_021212.1:g.59535A>C, NM_020779.4:c.2429A>C, NM_020779.3:c.2429A>C, NM_001006657.2:c.2462A>C, NM_001006657.1:c.2462A>C, XR_426989.4:n.2519A>C, XR_426989.3:n.2462A>C, XR_426989.2:n.2462A>C, XR_426989.1:n.2462A>C, XM_011533007.3:c.1157A>C, XM_011533007.2:c.1157A>C, XM_011533007.1:c.1157A>C, NP_065830.2:p.Gln810Pro, NP_001006658.1:p.Gln821Pro, XP_011531309.1:p.Gln386Pro

Select item 14883136429.

rs1488313642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:19935519 (GRCh38)
2:20135280 (GRCh37)
Canonical SPDI:: NC_000002.12:19935518:C:G,NC_000002.12:19935518:C:T
Gene:: WDR35 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.19935519C>G, NC_000002.12:g.19935519C>T, NC_000002.11:g.20135280C>G, NC_000002.11:g.20135280C>T, NG_021212.1:g.59605G>C, NG_021212.1:g.59605G>A, NM_020779.4:c.2499G>C, NM_020779.4:c.2499G>A, NM_020779.3:c.2499G>C, NM_020779.3:c.2499G>A, NM_001006657.2:c.2532G>C, NM_001006657.2:c.2532G>A, NM_001006657.1:c.2532G>C, NM_001006657.1:c.2532G>A, XR_426989.4:n.2589G>C, XR_426989.4:n.2589G>A, XR_426989.3:n.2532G>C, XR_426989.3:n.2532G>A, XR_426989.2:n.2532G>C, XR_426989.2:n.2532G>A, XR_426989.1:n.2532G>C, XR_426989.1:n.2532G>A, XM_011533007.3:c.1227G>C, XM_011533007.3:c.1227G>A, XM_011533007.2:c.1227G>C, XM_011533007.2:c.1227G>A, XM_011533007.1:c.1227G>C, XM_011533007.1:c.1227G>A

Select item 148793508510.

rs1487935085 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:19989261 (GRCh38)
2:20189022 (GRCh37)
Canonical SPDI:: NC_000002.12:19989260:T:C
Gene:: WDR35 (Varview), WDR35-DT (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.19989261T>C, NC_000002.11:g.20189022T>C, NG_021212.1:g.5863A>G, NM_020779.4:c.46A>G, NM_020779.3:c.46A>G, NM_001006657.2:c.46A>G, NM_001006657.1:c.46A>G, XR_426989.4:n.136A>G, XR_426989.3:n.79A>G, XR_426989.2:n.79A>G, XR_426989.1:n.79A>G, XR_939699.4:n.136A>G, XR_939699.3:n.79A>G, XR_939699.2:n.79A>G, XR_939699.1:n.79A>G, XM_047445199.1:c.46A>G, NP_065830.2:p.Lys16Glu, NP_001006658.1:p.Lys16Glu, XP_047301155.1:p.Lys16Glu

Select item 148603667411.

rs1486036674 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:19945813 (GRCh38)
2:20145574 (GRCh37)
Canonical SPDI:: NC_000002.12:19945811:ACA:A
Gene:: WDR35 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.19945813_19945814del, NC_000002.11:g.20145574_20145575del, NG_021212.1:g.49311_49312del, NM_020779.4:c.1818_1819del, NM_020779.3:c.1818_1819del, NM_001006657.2:c.1851_1852del, NM_001006657.1:c.1851_1852del, XR_426989.4:n.1908_1909del, XR_426989.3:n.1851_1852del, XR_426989.2:n.1851_1852del, XR_426989.1:n.1851_1852del, XR_939699.4:n.1908_1909del, XR_939699.3:n.1851_1852del, XR_939699.2:n.1851_1852del, XR_939699.1:n.1851_1852del, XM_011533007.3:c.546_547del, XM_011533007.2:c.546_547del, XM_011533007.1:c.546_547del, XM_047445199.1:c.1818_1819del, NP_065830.2:p.Met606fs, NP_001006658.1:p.Met617fs, XP_011531309.1:p.Met182fs, XP_047301155.1:p.Met606fs

Select item 148599942012.

rs1485999420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:19948187 (GRCh38)
2:20147948 (GRCh37)
Canonical SPDI:: NC_000002.12:19948186:C:A
Gene:: WDR35 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.19948187C>A, NC_000002.11:g.20147948C>A, NG_021212.1:g.46937G>T, NM_020779.4:c.1501G>T, NM_020779.3:c.1501G>T, NM_001006657.2:c.1534G>T, NM_001006657.1:c.1534G>T, XR_426989.4:n.1591G>T, XR_426989.3:n.1534G>T, XR_426989.2:n.1534G>T, XR_426989.1:n.1534G>T, XR_939699.4:n.1591G>T, XR_939699.3:n.1534G>T, XR_939699.2:n.1534G>T, XR_939699.1:n.1534G>T, XM_011533007.3:c.229G>T, XM_011533007.2:c.229G>T, XM_011533007.1:c.229G>T, XM_047445199.1:c.1501G>T, NP_065830.2:p.Ala501Ser, NP_001006658.1:p.Ala512Ser, XP_011531309.1:p.Ala77Ser, XP_047301155.1:p.Ala501Ser

Select item 148452803113.

rs1484528031 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 2:19973613 (GRCh38)
2:20173374 (GRCh37)
Canonical SPDI:: NC_000002.12:19973612:T:A,NC_000002.12:19973612:T:C,NC_000002.12:19973612:T:G
Gene:: WDR35 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0./0 (Korea1K)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.19973613T>A, NC_000002.12:g.19973613T>C, NC_000002.12:g.19973613T>G, NC_000002.11:g.20173374T>A, NC_000002.11:g.20173374T>C, NC_000002.11:g.20173374T>G, NG_021212.1:g.21511A>T, NG_021212.1:g.21511A>G, NG_021212.1:g.21511A>C, NM_020779.4:c.832A>T, NM_020779.4:c.832A>G, NM_020779.4:c.832A>C, NM_020779.3:c.832A>T, NM_020779.3:c.832A>G, NM_020779.3:c.832A>C, NM_001006657.2:c.832A>T, NM_001006657.2:c.832A>G, NM_001006657.2:c.832A>C, NM_001006657.1:c.832A>T, NM_001006657.1:c.832A>G, NM_001006657.1:c.832A>C, XR_426989.4:n.922A>T, XR_426989.4:n.922A>G, XR_426989.4:n.922A>C, XR_426989.3:n.865A>T, XR_426989.3:n.865A>G, XR_426989.3:n.865A>C, XR_426989.2:n.865A>T, XR_426989.2:n.865A>G, XR_426989.2:n.865A>C, XR_426989.1:n.865A>T, XR_426989.1:n.865A>G, XR_426989.1:n.865A>C, XR_939699.4:n.922A>T, XR_939699.4:n.922A>G, XR_939699.4:n.922A>C, XR_939699.3:n.865A>T, XR_939699.3:n.865A>G, XR_939699.3:n.865A>C, XR_939699.2:n.865A>T, XR_939699.2:n.865A>G, XR_939699.2:n.865A>C, XR_939699.1:n.865A>T, XR_939699.1:n.865A>G, XR_939699.1:n.865A>C, XM_047445199.1:c.832A>T, XM_047445199.1:c.832A>G, XM_047445199.1:c.832A>C, NP_065830.2:p.Met278Leu, NP_065830.2:p.Met278Val, NP_065830.2:p.Met278Leu, NP_001006658.1:p.Met278Leu, NP_001006658.1:p.Met278Val, NP_001006658.1:p.Met278Leu, XP_047301155.1:p.Met278Leu, XP_047301155.1:p.Met278Val, XP_047301155.1:p.Met278Leu

Select item 148429592414.

rs1484295924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:19913644 (GRCh38)
2:20113405 (GRCh37)
Canonical SPDI:: NC_000002.12:19913643:T:A,NC_000002.12:19913643:T:C
Gene:: WDR35 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.19913644T>A, NC_000002.12:g.19913644T>C, NC_000002.11:g.20113405T>A, NC_000002.11:g.20113405T>C, NG_021212.1:g.81480A>T, NG_021212.1:g.81480A>G, NM_020779.4:c.3427A>T, NM_020779.4:c.3427A>G, NM_020779.3:c.3427A>T, NM_020779.3:c.3427A>G, NM_001006657.2:c.3460A>T, NM_001006657.2:c.3460A>G, NM_001006657.1:c.3460A>T, NM_001006657.1:c.3460A>G, XM_011533007.3:c.2155A>T, XM_011533007.3:c.2155A>G, XM_011533007.2:c.2155A>T, XM_011533007.2:c.2155A>G, XM_011533007.1:c.2155A>T, XM_011533007.1:c.2155A>G, NP_065830.2:p.Met1143Leu, NP_065830.2:p.Met1143Val, NP_001006658.1:p.Met1154Leu, NP_001006658.1:p.Met1154Val, XP_011531309.1:p.Met719Leu, XP_011531309.1:p.Met719Val

Select item 148316116515.

rs1483161165 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:19982534 (GRCh38)
2:20182295 (GRCh37)
Canonical SPDI:: NC_000002.12:19982533:T:A,NC_000002.12:19982533:T:C
Gene:: WDR35 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.19982534T>A, NC_000002.12:g.19982534T>C, NC_000002.11:g.20182295T>A, NC_000002.11:g.20182295T>C, NG_021212.1:g.12590A>T, NG_021212.1:g.12590A>G, NM_020779.4:c.143A>T, NM_020779.4:c.143A>G, NM_020779.3:c.143A>T, NM_020779.3:c.143A>G, NM_001006657.2:c.143A>T, NM_001006657.2:c.143A>G, NM_001006657.1:c.143A>T, NM_001006657.1:c.143A>G, XR_426989.4:n.233A>T, XR_426989.4:n.233A>G, XR_426989.3:n.176A>T, XR_426989.3:n.176A>G, XR_426989.2:n.176A>T, XR_426989.2:n.176A>G, XR_426989.1:n.176A>T, XR_426989.1:n.176A>G, XR_939699.4:n.233A>T, XR_939699.4:n.233A>G, XR_939699.3:n.176A>T, XR_939699.3:n.176A>G, XR_939699.2:n.176A>T, XR_939699.2:n.176A>G, XR_939699.1:n.176A>T, XR_939699.1:n.176A>G, XM_047445199.1:c.143A>T, XM_047445199.1:c.143A>G, NP_065830.2:p.Asp48Val, NP_065830.2:p.Asp48Gly, NP_001006658.1:p.Asp48Val, NP_001006658.1:p.Asp48Gly, XP_047301155.1:p.Asp48Val, XP_047301155.1:p.Asp48Gly

Select item 148272406016.

rs1482724060 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:19930535 (GRCh38)
2:20130296 (GRCh37)
Canonical SPDI:: NC_000002.12:19930534:A:G
Gene:: WDR35 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.19930535A>G, NC_000002.11:g.20130296A>G, NG_021212.1:g.64589T>C, NM_020779.4:c.2982T>C, NM_020779.3:c.2982T>C, NM_001006657.2:c.3015T>C, NM_001006657.1:c.3015T>C, XR_426989.4:n.2972T>C, XR_426989.3:n.2915T>C, XR_426989.2:n.2915T>C, XR_426989.1:n.2915T>C, XM_011533007.3:c.1710T>C, XM_011533007.2:c.1710T>C, XM_011533007.1:c.1710T>C

Select item 148268540417.

rs1482685404 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:19914176 (GRCh38)
2:20113937 (GRCh37)
Canonical SPDI:: NC_000002.12:19914175:T:C
Gene:: WDR35 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.19914176T>C, NC_000002.11:g.20113937T>C, NG_021212.1:g.80948A>G, NM_020779.4:c.3223A>G, NM_020779.3:c.3223A>G, NM_001006657.2:c.3256A>G, NM_001006657.1:c.3256A>G, XM_011533007.3:c.1951A>G, XM_011533007.2:c.1951A>G, XM_011533007.1:c.1951A>G, NP_065830.2:p.Lys1075Glu, NP_001006658.1:p.Lys1086Glu, XP_011531309.1:p.Lys651Glu

Select item 148173515418.

rs1481735154 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCCTT>- [Show Flanks]
Chromosome:: 2:19913698 (GRCh38)
2:20113459 (GRCh37)
Canonical SPDI:: NC_000002.12:19913695:TTTCCCTT:TT
Gene:: WDR35 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.19913698_19913703del, NC_000002.11:g.20113459_20113464del, NG_021212.1:g.81423_81428del, NM_020779.4:c.3370_3375del, NM_020779.3:c.3370_3375del, NM_001006657.2:c.3403_3408del, NM_001006657.1:c.3403_3408del, XM_011533007.3:c.2098_2103del, XM_011533007.2:c.2098_2103del, XM_011533007.1:c.2098_2103del, NP_065830.2:p.Gly1124_Lys1125del, NP_001006658.1:p.Gly1135_Lys1136del, XP_011531309.1:p.Gly700_Lys701del

Select item 148067830219.

rs1480678302 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:19989269 (GRCh38)
2:20189030 (GRCh37)
Canonical SPDI:: NC_000002.12:19989268:T:C
Gene:: WDR35 (Varview), WDR35-DT (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.19989269T>C, NC_000002.11:g.20189030T>C, NG_021212.1:g.5855A>G, NM_020779.4:c.38A>G, NM_020779.3:c.38A>G, NM_001006657.2:c.38A>G, NM_001006657.1:c.38A>G, XR_426989.4:n.128A>G, XR_426989.3:n.71A>G, XR_426989.2:n.71A>G, XR_426989.1:n.71A>G, XR_939699.4:n.128A>G, XR_939699.3:n.71A>G, XR_939699.2:n.71A>G, XR_939699.1:n.71A>G, XM_047445199.1:c.38A>G, NP_065830.2:p.Asn13Ser, NP_001006658.1:p.Asn13Ser, XP_047301155.1:p.Asn13Ser

Select item 147990487820.

rs1479904878 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:19946550 (GRCh38)
2:20146311 (GRCh37)
Canonical SPDI:: NC_000002.12:19946549:A:T
Gene:: WDR35 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_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_000002.12:g.19946550A>T, NC_000002.11:g.20146311A>T, NG_021212.1:g.48574T>A, NM_020779.4:c.1545T>A, NM_020779.3:c.1545T>A, NM_001006657.2:c.1578T>A, NM_001006657.1:c.1578T>A, XR_426989.4:n.1635T>A, XR_426989.3:n.1578T>A, XR_426989.2:n.1578T>A, XR_426989.1:n.1578T>A, XR_939699.4:n.1635T>A, XR_939699.3:n.1578T>A, XR_939699.2:n.1578T>A, XR_939699.1:n.1578T>A, XM_011533007.3:c.273T>A, XM_011533007.2:c.273T>A, XM_011533007.1:c.273T>A, XM_047445199.1:c.1545T>A

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