SNP Links for Protein (Select 1069561731) - SNP

Links from Protein

Items: 1 to 20 of 361

<< First< Prev

Page of 19

Next >Last >>

Select item 14865467861.

rs1486546786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:52078749 (GRCh38)
4:52944915 (GRCh37)
Canonical SPDI:: NC_000004.12:52078748:A:G
Gene:: SPATA18 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.52078749A>G, NC_000004.11:g.52944915A>G, NG_051630.1:g.32419A>G, NM_145263.4:c.1035A>G, NM_145263.3:c.1035A>G, NM_145263.2:c.1035A>G, NR_123728.2:n.1436A>G, NR_123728.1:n.1409A>G, NM_001297608.2:c.939A>G, NM_001297608.1:c.939A>G, NM_001346102.2:c.624A>G, NM_001346102.1:c.624A>G, NR_144359.2:n.1005A>G, NR_144359.1:n.978A>G, NM_001346103.2:c.360A>G, NM_001346103.1:c.360A>G, XM_017007731.3:c.675A>G, XM_017007731.2:c.675A>G, XM_017007731.1:c.675A>G, XM_011534372.2:c.360A>G, XM_011534372.1:c.360A>G, XR_941044.2:n.1519A>G, XR_941044.1:n.1407A>G, XM_047449604.1:c.720A>G, XM_047449605.1:c.645A>G, XM_047449606.1:c.384A>G, XR_007096360.1:n.1340A>G

Select item 14833634092.

rs1483363409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:52084996 (GRCh38)
4:52951162 (GRCh37)
Canonical SPDI:: NC_000004.12:52084995:C:T
Gene:: SPATA18 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.52084996C>T, NC_000004.11:g.52951162C>T, NG_051630.1:g.38666C>T, NM_145263.4:c.1560C>T, NM_145263.3:c.1560C>T, NM_145263.2:c.1560C>T, NR_123728.2:n.2011C>T, NR_123728.1:n.1984C>T, NM_001297608.2:c.1464C>T, NM_001297608.1:c.1464C>T, NM_001346102.2:c.1149C>T, NM_001346102.1:c.1149C>T, NR_144359.2:n.1580C>T, NR_144359.1:n.1553C>T, NM_001346103.2:c.885C>T, NM_001346103.1:c.885C>T, XM_017007731.3:c.1200C>T, XM_017007731.2:c.1200C>T, XM_017007731.1:c.1200C>T, XM_011534372.2:c.885C>T, XM_011534372.1:c.885C>T, XM_047449604.1:c.1245C>T, XM_047449605.1:c.1170C>T, XM_047449606.1:c.909C>T, XR_007096360.1:n.1915C>T

Select item 14799720283.

rs1479972028 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:52076890 (GRCh38)
4:52943057 (GRCh37)
Canonical SPDI:: NC_000004.12:52076890:T:TT
Gene:: SPATA18 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_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_000004.12:g.52076891dup, NC_000004.11:g.52943057dup, NG_051630.1:g.30561dup, NM_145263.4:c.871dup, NM_145263.3:c.871dup, NM_145263.2:c.871dup, NR_123728.2:n.1272dup, NR_123728.1:n.1245dup, NM_001297608.2:c.775dup, NM_001297608.1:c.775dup, NM_001346102.2:c.460dup, NM_001346102.1:c.460dup, NR_144359.2:n.841dup, NR_144359.1:n.814dup, NM_001346103.2:c.196dup, NM_001346103.1:c.196dup, XM_005265717.3:c.871dup, XM_005265717.2:c.871dup, XM_005265717.1:c.871dup, XM_017007731.3:c.511dup, XM_017007731.2:c.511dup, XM_017007731.1:c.511dup, XM_011534372.2:c.196dup, XM_011534372.1:c.196dup, XR_941044.2:n.1272dup, XR_941044.1:n.1160dup, XM_047449604.1:c.556dup, XM_047449605.1:c.481dup, XM_047449606.1:c.220dup, XR_007096360.1:n.1176dup, NP_660306.1:p.Ser291fs, NP_001284537.1:p.Ser259fs, NP_001333031.1:p.Ser154fs, NP_001333032.1:p.Ser66fs, XP_005265774.1:p.Ser291fs, XP_016863220.1:p.Ser171fs, XP_011532674.1:p.Ser66fs, XP_047305560.1:p.Ser186fs, XP_047305561.1:p.Ser161fs, XP_047305562.1:p.Ser74fs

Select item 14747424864.

rs1474742486 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:52079748 (GRCh38)
4:52945914 (GRCh37)
Canonical SPDI:: NC_000004.12:52079747:T:C
Gene:: SPATA18 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000004.12:g.52079748T>C, NC_000004.11:g.52945914T>C, NG_051630.1:g.33418T>C, NM_145263.4:c.1184T>C, NM_145263.3:c.1184T>C, NM_145263.2:c.1184T>C, NR_123728.2:n.1585T>C, NR_123728.1:n.1558T>C, NM_001297608.2:c.1088T>C, NM_001297608.1:c.1088T>C, NM_001346102.2:c.773T>C, NM_001346102.1:c.773T>C, NR_144359.2:n.1154T>C, NR_144359.1:n.1127T>C, NM_001346103.2:c.509T>C, NM_001346103.1:c.509T>C, XM_017007731.3:c.824T>C, XM_017007731.2:c.824T>C, XM_017007731.1:c.824T>C, XM_011534372.2:c.509T>C, XM_011534372.1:c.509T>C, XM_047449604.1:c.869T>C, XM_047449605.1:c.794T>C, XM_047449606.1:c.533T>C, XR_007096360.1:n.1489T>C, NP_660306.1:p.Val395Ala, NP_001284537.1:p.Val363Ala, NP_001333031.1:p.Val258Ala, NP_001333032.1:p.Val170Ala, XP_016863220.1:p.Val275Ala, XP_011532674.1:p.Val170Ala, XP_047305560.1:p.Val290Ala, XP_047305561.1:p.Val265Ala, XP_047305562.1:p.Val178Ala

Select item 14729162645.

rs1472916264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:52079810 (GRCh38)
4:52945976 (GRCh37)
Canonical SPDI:: NC_000004.12:52079809:C:T
Gene:: SPATA18 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.52079810C>T, NC_000004.11:g.52945976C>T, NG_051630.1:g.33480C>T, NM_145263.4:c.1246C>T, NM_145263.3:c.1246C>T, NM_145263.2:c.1246C>T, NR_123728.2:n.1647C>T, NR_123728.1:n.1620C>T, NM_001297608.2:c.1150C>T, NM_001297608.1:c.1150C>T, NM_001346102.2:c.835C>T, NM_001346102.1:c.835C>T, NR_144359.2:n.1216C>T, NR_144359.1:n.1189C>T, NM_001346103.2:c.571C>T, NM_001346103.1:c.571C>T, XM_017007731.3:c.886C>T, XM_017007731.2:c.886C>T, XM_017007731.1:c.886C>T, XM_011534372.2:c.571C>T, XM_011534372.1:c.571C>T, XM_047449604.1:c.931C>T, XM_047449605.1:c.856C>T, XM_047449606.1:c.595C>T, XR_007096360.1:n.1551C>T, NP_660306.1:p.Leu416Phe, NP_001284537.1:p.Leu384Phe, NP_001333031.1:p.Leu279Phe, NP_001333032.1:p.Leu191Phe, XP_016863220.1:p.Leu296Phe, XP_011532674.1:p.Leu191Phe, XP_047305560.1:p.Leu311Phe, XP_047305561.1:p.Leu286Phe, XP_047305562.1:p.Leu199Phe

Select item 14723597506.

rs1472359750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:52078764 (GRCh38)
4:52944930 (GRCh37)
Canonical SPDI:: NC_000004.12:52078763:C:T
Gene:: SPATA18 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.52078764C>T, NC_000004.11:g.52944930C>T, NG_051630.1:g.32434C>T, NM_145263.4:c.1050C>T, NM_145263.3:c.1050C>T, NM_145263.2:c.1050C>T, NR_123728.2:n.1451C>T, NR_123728.1:n.1424C>T, NM_001297608.2:c.954C>T, NM_001297608.1:c.954C>T, NM_001346102.2:c.639C>T, NM_001346102.1:c.639C>T, NR_144359.2:n.1020C>T, NR_144359.1:n.993C>T, NM_001346103.2:c.375C>T, NM_001346103.1:c.375C>T, XM_017007731.3:c.690C>T, XM_017007731.2:c.690C>T, XM_017007731.1:c.690C>T, XM_011534372.2:c.375C>T, XM_011534372.1:c.375C>T, XR_941044.2:n.1534C>T, XR_941044.1:n.1422C>T, XM_047449604.1:c.735C>T, XM_047449605.1:c.660C>T, XM_047449606.1:c.399C>T, XR_007096360.1:n.1355C>T

Select item 14574263637.

rs1457426363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:52082499 (GRCh38)
4:52948665 (GRCh37)
Canonical SPDI:: NC_000004.12:52082498:A:C
Gene:: SPATA18 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.52082499A>C, NC_000004.11:g.52948665A>C, NG_051630.1:g.36169A>C, NM_145263.4:c.1468A>C, NM_145263.3:c.1468A>C, NM_145263.2:c.1468A>C, NR_123728.2:n.1869A>C, NR_123728.1:n.1842A>C, NM_001297608.2:c.1372A>C, NM_001297608.1:c.1372A>C, NM_001346102.2:c.1057A>C, NM_001346102.1:c.1057A>C, NR_144359.2:n.1438A>C, NR_144359.1:n.1411A>C, NM_001346103.2:c.793A>C, NM_001346103.1:c.793A>C, XM_017007731.3:c.1108A>C, XM_017007731.2:c.1108A>C, XM_017007731.1:c.1108A>C, XM_011534372.2:c.793A>C, XM_011534372.1:c.793A>C, XM_047449604.1:c.1153A>C, XM_047449605.1:c.1078A>C, XM_047449606.1:c.817A>C, XR_007096360.1:n.1773A>C

Select item 14509501748.

rs1450950174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:52082393 (GRCh38)
4:52948559 (GRCh37)
Canonical SPDI:: NC_000004.12:52082392:C:T
Gene:: SPATA18 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.52082393C>T, NC_000004.11:g.52948559C>T, NG_051630.1:g.36063C>T, NM_145263.4:c.1362C>T, NM_145263.3:c.1362C>T, NM_145263.2:c.1362C>T, NR_123728.2:n.1763C>T, NR_123728.1:n.1736C>T, NM_001297608.2:c.1266C>T, NM_001297608.1:c.1266C>T, NM_001346102.2:c.951C>T, NM_001346102.1:c.951C>T, NR_144359.2:n.1332C>T, NR_144359.1:n.1305C>T, NM_001346103.2:c.687C>T, NM_001346103.1:c.687C>T, XM_017007731.3:c.1002C>T, XM_017007731.2:c.1002C>T, XM_017007731.1:c.1002C>T, XM_011534372.2:c.687C>T, XM_011534372.1:c.687C>T, XM_047449604.1:c.1047C>T, XM_047449605.1:c.972C>T, XM_047449606.1:c.711C>T, XR_007096360.1:n.1667C>T

Select item 14464301029.

rs1446430102 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:52072116 (GRCh38)
4:52938282 (GRCh37)
Canonical SPDI:: NC_000004.12:52072115:A:G,NC_000004.12:52072115:A:T
Gene:: SPATA18 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.52072116A>G, NC_000004.12:g.52072116A>T, NC_000004.11:g.52938282A>G, NC_000004.11:g.52938282A>T, NG_051630.1:g.25786A>G, NG_051630.1:g.25786A>T, NM_145263.4:c.718A>G, NM_145263.4:c.718A>T, NM_145263.3:c.718A>G, NM_145263.3:c.718A>T, NM_145263.2:c.718A>G, NM_145263.2:c.718A>T, NR_123728.2:n.1119A>G, NR_123728.2:n.1119A>T, NR_123728.1:n.1092A>G, NR_123728.1:n.1092A>T, NM_001297608.2:c.622A>G, NM_001297608.2:c.622A>T, NM_001297608.1:c.622A>G, NM_001297608.1:c.622A>T, NM_001346102.2:c.307A>G, NM_001346102.2:c.307A>T, NM_001346102.1:c.307A>G, NM_001346102.1:c.307A>T, NR_144359.2:n.688A>G, NR_144359.2:n.688A>T, NR_144359.1:n.661A>G, NR_144359.1:n.661A>T, NM_001346103.2:c.43A>G, NM_001346103.2:c.43A>T, NM_001346103.1:c.43A>G, NM_001346103.1:c.43A>T, XM_005265717.3:c.718A>G, XM_005265717.3:c.718A>T, XM_005265717.2:c.718A>G, XM_005265717.2:c.718A>T, XM_005265717.1:c.718A>G, XM_005265717.1:c.718A>T, XM_017007731.3:c.358A>G, XM_017007731.3:c.358A>T, XM_017007731.2:c.358A>G, XM_017007731.2:c.358A>T, XM_017007731.1:c.358A>G, XM_017007731.1:c.358A>T, XM_011534372.2:c.43A>G, XM_011534372.2:c.43A>T, XM_011534372.1:c.43A>G, XM_011534372.1:c.43A>T, XR_941044.2:n.1119A>G, XR_941044.2:n.1119A>T, XR_941044.1:n.1007A>G, XR_941044.1:n.1007A>T, XM_047449604.1:c.403A>G, XM_047449604.1:c.403A>T, XM_047449605.1:c.328A>G, XM_047449605.1:c.328A>T, XR_007096360.1:n.1023A>G, XR_007096360.1:n.1023A>T, NP_660306.1:p.Ile240Val, NP_660306.1:p.Ile240Leu, NP_001284537.1:p.Ile208Val, NP_001284537.1:p.Ile208Leu, NP_001333031.1:p.Ile103Val, NP_001333031.1:p.Ile103Leu, NP_001333032.1:p.Ile15Val, NP_001333032.1:p.Ile15Leu, XP_005265774.1:p.Ile240Val, XP_005265774.1:p.Ile240Leu, XP_016863220.1:p.Ile120Val, XP_016863220.1:p.Ile120Leu, XP_011532674.1:p.Ile15Val, XP_011532674.1:p.Ile15Leu, XP_047305560.1:p.Ile135Val, XP_047305560.1:p.Ile135Leu, XP_047305561.1:p.Ile110Val, XP_047305561.1:p.Ile110Leu

Select item 144470983710.

rs1444709837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:52076976 (GRCh38)
4:52943142 (GRCh37)
Canonical SPDI:: NC_000004.12:52076975:G:T
Gene:: SPATA18 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.52076976G>T, NC_000004.11:g.52943142G>T, NG_051630.1:g.30646G>T, NM_145263.4:c.956G>T, NM_145263.3:c.956G>T, NM_145263.2:c.956G>T, NR_123728.2:n.1357G>T, NR_123728.1:n.1330G>T, NM_001297608.2:c.860G>T, NM_001297608.1:c.860G>T, NM_001346102.2:c.545G>T, NM_001346102.1:c.545G>T, NR_144359.2:n.926G>T, NR_144359.1:n.899G>T, NM_001346103.2:c.281G>T, NM_001346103.1:c.281G>T, XM_005265717.3:c.956G>T, XM_005265717.2:c.956G>T, XM_005265717.1:c.956G>T, XM_017007731.3:c.596G>T, XM_017007731.2:c.596G>T, XM_017007731.1:c.596G>T, XM_011534372.2:c.281G>T, XM_011534372.1:c.281G>T, XR_941044.2:n.1357G>T, XR_941044.1:n.1245G>T, XM_047449604.1:c.641G>T, XM_047449605.1:c.566G>T, XM_047449606.1:c.305G>T, XR_007096360.1:n.1261G>T, NP_660306.1:p.Cys319Phe, NP_001284537.1:p.Cys287Phe, NP_001333031.1:p.Cys182Phe, NP_001333032.1:p.Cys94Phe, XP_005265774.1:p.Cys319Phe, XP_016863220.1:p.Cys199Phe, XP_011532674.1:p.Cys94Phe, XP_047305560.1:p.Cys214Phe, XP_047305561.1:p.Cys189Phe, XP_047305562.1:p.Cys102Phe

Select item 144277594711.

rs1442775947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:52079913 (GRCh38)
4:52946079 (GRCh37)
Canonical SPDI:: NC_000004.12:52079912:A:C,NC_000004.12:52079912:A:G
Gene:: SPATA18 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,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)
G=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.52079913A>C, NC_000004.12:g.52079913A>G, NC_000004.11:g.52946079A>C, NC_000004.11:g.52946079A>G, NG_051630.1:g.33583A>C, NG_051630.1:g.33583A>G, NM_145263.4:c.1349A>C, NM_145263.4:c.1349A>G, NM_145263.3:c.1349A>C, NM_145263.3:c.1349A>G, NM_145263.2:c.1349A>C, NM_145263.2:c.1349A>G, NR_123728.2:n.1750A>C, NR_123728.2:n.1750A>G, NR_123728.1:n.1723A>C, NR_123728.1:n.1723A>G, NM_001297608.2:c.1253A>C, NM_001297608.2:c.1253A>G, NM_001297608.1:c.1253A>C, NM_001297608.1:c.1253A>G, NM_001346102.2:c.938A>C, NM_001346102.2:c.938A>G, NM_001346102.1:c.938A>C, NM_001346102.1:c.938A>G, NR_144359.2:n.1319A>C, NR_144359.2:n.1319A>G, NR_144359.1:n.1292A>C, NR_144359.1:n.1292A>G, NM_001346103.2:c.674A>C, NM_001346103.2:c.674A>G, NM_001346103.1:c.674A>C, NM_001346103.1:c.674A>G, XM_017007731.3:c.989A>C, XM_017007731.3:c.989A>G, XM_017007731.2:c.989A>C, XM_017007731.2:c.989A>G, XM_017007731.1:c.989A>C, XM_017007731.1:c.989A>G, XM_011534372.2:c.674A>C, XM_011534372.2:c.674A>G, XM_011534372.1:c.674A>C, XM_011534372.1:c.674A>G, XM_047449604.1:c.1034A>C, XM_047449604.1:c.1034A>G, XM_047449605.1:c.959A>C, XM_047449605.1:c.959A>G, XM_047449606.1:c.698A>C, XM_047449606.1:c.698A>G, XR_007096360.1:n.1654A>C, XR_007096360.1:n.1654A>G, NP_660306.1:p.Asp450Ala, NP_660306.1:p.Asp450Gly, NP_001284537.1:p.Asp418Ala, NP_001284537.1:p.Asp418Gly, NP_001333031.1:p.Asp313Ala, NP_001333031.1:p.Asp313Gly, NP_001333032.1:p.Asp225Ala, NP_001333032.1:p.Asp225Gly, XP_016863220.1:p.Asp330Ala, XP_016863220.1:p.Asp330Gly, XP_011532674.1:p.Asp225Ala, XP_011532674.1:p.Asp225Gly, XP_047305560.1:p.Asp345Ala, XP_047305560.1:p.Asp345Gly, XP_047305561.1:p.Asp320Ala, XP_047305561.1:p.Asp320Gly, XP_047305562.1:p.Asp233Ala, XP_047305562.1:p.Asp233Gly

Select item 144105181512.

rs1441051815 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:52072138 (GRCh38)
4:52938304 (GRCh37)
Canonical SPDI:: NC_000004.12:52072137:A:G
Gene:: SPATA18 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.52072138A>G, NC_000004.11:g.52938304A>G, NG_051630.1:g.25808A>G, NM_145263.4:c.740A>G, NM_145263.3:c.740A>G, NM_145263.2:c.740A>G, NR_123728.2:n.1141A>G, NR_123728.1:n.1114A>G, NM_001297608.2:c.644A>G, NM_001297608.1:c.644A>G, NM_001346102.2:c.329A>G, NM_001346102.1:c.329A>G, NR_144359.2:n.710A>G, NR_144359.1:n.683A>G, NM_001346103.2:c.65A>G, NM_001346103.1:c.65A>G, XM_005265717.3:c.740A>G, XM_005265717.2:c.740A>G, XM_005265717.1:c.740A>G, XM_017007731.3:c.380A>G, XM_017007731.2:c.380A>G, XM_017007731.1:c.380A>G, XM_011534372.2:c.65A>G, XM_011534372.1:c.65A>G, XR_941044.2:n.1141A>G, XR_941044.1:n.1029A>G, XM_047449604.1:c.425A>G, XM_047449605.1:c.350A>G, XR_007096360.1:n.1045A>G, NP_660306.1:p.Lys247Arg, NP_001284537.1:p.Lys215Arg, NP_001333031.1:p.Lys110Arg, NP_001333032.1:p.Lys22Arg, XP_005265774.1:p.Lys247Arg, XP_016863220.1:p.Lys127Arg, XP_011532674.1:p.Lys22Arg, XP_047305560.1:p.Lys142Arg, XP_047305561.1:p.Lys117Arg

Select item 143926449213.

rs1439264492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:52076929 (GRCh38)
4:52943095 (GRCh37)
Canonical SPDI:: NC_000004.12:52076928:G:A,NC_000004.12:52076928:G:T
Gene:: SPATA18 (Varview)
Functional Consequence:: synonymous_variant,missense_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=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.52076929G>A, NC_000004.12:g.52076929G>T, NC_000004.11:g.52943095G>A, NC_000004.11:g.52943095G>T, NG_051630.1:g.30599G>A, NG_051630.1:g.30599G>T, NM_145263.4:c.909G>A, NM_145263.4:c.909G>T, NM_145263.3:c.909G>A, NM_145263.3:c.909G>T, NM_145263.2:c.909G>A, NM_145263.2:c.909G>T, NR_123728.2:n.1310G>A, NR_123728.2:n.1310G>T, NR_123728.1:n.1283G>A, NR_123728.1:n.1283G>T, NM_001297608.2:c.813G>A, NM_001297608.2:c.813G>T, NM_001297608.1:c.813G>A, NM_001297608.1:c.813G>T, NM_001346102.2:c.498G>A, NM_001346102.2:c.498G>T, NM_001346102.1:c.498G>A, NM_001346102.1:c.498G>T, NR_144359.2:n.879G>A, NR_144359.2:n.879G>T, NR_144359.1:n.852G>A, NR_144359.1:n.852G>T, NM_001346103.2:c.234G>A, NM_001346103.2:c.234G>T, NM_001346103.1:c.234G>A, NM_001346103.1:c.234G>T, XM_005265717.3:c.909G>A, XM_005265717.3:c.909G>T, XM_005265717.2:c.909G>A, XM_005265717.2:c.909G>T, XM_005265717.1:c.909G>A, XM_005265717.1:c.909G>T, XM_017007731.3:c.549G>A, XM_017007731.3:c.549G>T, XM_017007731.2:c.549G>A, XM_017007731.2:c.549G>T, XM_017007731.1:c.549G>A, XM_017007731.1:c.549G>T, XM_011534372.2:c.234G>A, XM_011534372.2:c.234G>T, XM_011534372.1:c.234G>A, XM_011534372.1:c.234G>T, XR_941044.2:n.1310G>A, XR_941044.2:n.1310G>T, XR_941044.1:n.1198G>A, XR_941044.1:n.1198G>T, XM_047449604.1:c.594G>A, XM_047449604.1:c.594G>T, XM_047449605.1:c.519G>A, XM_047449605.1:c.519G>T, XM_047449606.1:c.258G>A, XM_047449606.1:c.258G>T, XR_007096360.1:n.1214G>A, XR_007096360.1:n.1214G>T, NP_660306.1:p.Leu303Phe, NP_001284537.1:p.Leu271Phe, NP_001333031.1:p.Leu166Phe, NP_001333032.1:p.Leu78Phe, XP_005265774.1:p.Leu303Phe, XP_016863220.1:p.Leu183Phe, XP_011532674.1:p.Leu78Phe, XP_047305560.1:p.Leu198Phe, XP_047305561.1:p.Leu173Phe, XP_047305562.1:p.Leu86Phe

Select item 143530065514.

rs1435300655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:52079805 (GRCh38)
4:52945971 (GRCh37)
Canonical SPDI:: NC_000004.12:52079804:G:C
Gene:: SPATA18 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.52079805G>C, NC_000004.11:g.52945971G>C, NG_051630.1:g.33475G>C, NM_145263.4:c.1241G>C, NM_145263.3:c.1241G>C, NM_145263.2:c.1241G>C, NR_123728.2:n.1642G>C, NR_123728.1:n.1615G>C, NM_001297608.2:c.1145G>C, NM_001297608.1:c.1145G>C, NM_001346102.2:c.830G>C, NM_001346102.1:c.830G>C, NR_144359.2:n.1211G>C, NR_144359.1:n.1184G>C, NM_001346103.2:c.566G>C, NM_001346103.1:c.566G>C, XM_017007731.3:c.881G>C, XM_017007731.2:c.881G>C, XM_017007731.1:c.881G>C, XM_011534372.2:c.566G>C, XM_011534372.1:c.566G>C, XM_047449604.1:c.926G>C, XM_047449605.1:c.851G>C, XM_047449606.1:c.590G>C, XR_007096360.1:n.1546G>C, NP_660306.1:p.Cys414Ser, NP_001284537.1:p.Cys382Ser, NP_001333031.1:p.Cys277Ser, NP_001333032.1:p.Cys189Ser, XP_016863220.1:p.Cys294Ser, XP_011532674.1:p.Cys189Ser, XP_047305560.1:p.Cys309Ser, XP_047305561.1:p.Cys284Ser, XP_047305562.1:p.Cys197Ser

Select item 143025946715.

rs1430259467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:52076942 (GRCh38)
4:52943108 (GRCh37)
Canonical SPDI:: NC_000004.12:52076941:G:A,NC_000004.12:52076941:G:T
Gene:: SPATA18 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.52076942G>A, NC_000004.12:g.52076942G>T, NC_000004.11:g.52943108G>A, NC_000004.11:g.52943108G>T, NG_051630.1:g.30612G>A, NG_051630.1:g.30612G>T, NM_145263.4:c.922G>A, NM_145263.4:c.922G>T, NM_145263.3:c.922G>A, NM_145263.3:c.922G>T, NM_145263.2:c.922G>A, NM_145263.2:c.922G>T, NR_123728.2:n.1323G>A, NR_123728.2:n.1323G>T, NR_123728.1:n.1296G>A, NR_123728.1:n.1296G>T, NM_001297608.2:c.826G>A, NM_001297608.2:c.826G>T, NM_001297608.1:c.826G>A, NM_001297608.1:c.826G>T, NM_001346102.2:c.511G>A, NM_001346102.2:c.511G>T, NM_001346102.1:c.511G>A, NM_001346102.1:c.511G>T, NR_144359.2:n.892G>A, NR_144359.2:n.892G>T, NR_144359.1:n.865G>A, NR_144359.1:n.865G>T, NM_001346103.2:c.247G>A, NM_001346103.2:c.247G>T, NM_001346103.1:c.247G>A, NM_001346103.1:c.247G>T, XM_005265717.3:c.922G>A, XM_005265717.3:c.922G>T, XM_005265717.2:c.922G>A, XM_005265717.2:c.922G>T, XM_005265717.1:c.922G>A, XM_005265717.1:c.922G>T, XM_017007731.3:c.562G>A, XM_017007731.3:c.562G>T, XM_017007731.2:c.562G>A, XM_017007731.2:c.562G>T, XM_017007731.1:c.562G>A, XM_017007731.1:c.562G>T, XM_011534372.2:c.247G>A, XM_011534372.2:c.247G>T, XM_011534372.1:c.247G>A, XM_011534372.1:c.247G>T, XR_941044.2:n.1323G>A, XR_941044.2:n.1323G>T, XR_941044.1:n.1211G>A, XR_941044.1:n.1211G>T, XM_047449604.1:c.607G>A, XM_047449604.1:c.607G>T, XM_047449605.1:c.532G>A, XM_047449605.1:c.532G>T, XM_047449606.1:c.271G>A, XM_047449606.1:c.271G>T, XR_007096360.1:n.1227G>A, XR_007096360.1:n.1227G>T, NP_660306.1:p.Asp308Asn, NP_660306.1:p.Asp308Tyr, NP_001284537.1:p.Asp276Asn, NP_001284537.1:p.Asp276Tyr, NP_001333031.1:p.Asp171Asn, NP_001333031.1:p.Asp171Tyr, NP_001333032.1:p.Asp83Asn, NP_001333032.1:p.Asp83Tyr, XP_005265774.1:p.Asp308Asn, XP_005265774.1:p.Asp308Tyr, XP_016863220.1:p.Asp188Asn, XP_016863220.1:p.Asp188Tyr, XP_011532674.1:p.Asp83Asn, XP_011532674.1:p.Asp83Tyr, XP_047305560.1:p.Asp203Asn, XP_047305560.1:p.Asp203Tyr, XP_047305561.1:p.Asp178Asn, XP_047305561.1:p.Asp178Tyr, XP_047305562.1:p.Asp91Asn, XP_047305562.1:p.Asp91Tyr

Select item 142991473416.

rs1429914734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:52076782 (GRCh38)
4:52942948 (GRCh37)
Canonical SPDI:: NC_000004.12:52076781:C:T
Gene:: SPATA18 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_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.52076782C>T, NC_000004.11:g.52942948C>T, NG_051630.1:g.30452C>T, NM_145263.4:c.762C>T, NM_145263.3:c.762C>T, NM_145263.2:c.762C>T, NR_123728.2:n.1163C>T, NR_123728.1:n.1136C>T, NM_001297608.2:c.666C>T, NM_001297608.1:c.666C>T, NM_001346102.2:c.351C>T, NM_001346102.1:c.351C>T, NR_144359.2:n.732C>T, NR_144359.1:n.705C>T, NM_001346103.2:c.87C>T, NM_001346103.1:c.87C>T, XM_005265717.3:c.762C>T, XM_005265717.2:c.762C>T, XM_005265717.1:c.762C>T, XM_017007731.3:c.402C>T, XM_017007731.2:c.402C>T, XM_017007731.1:c.402C>T, XM_011534372.2:c.87C>T, XM_011534372.1:c.87C>T, XR_941044.2:n.1163C>T, XR_941044.1:n.1051C>T, XM_047449604.1:c.447C>T, XM_047449605.1:c.372C>T, XM_047449606.1:c.111C>T, XR_007096360.1:n.1067C>T

Select item 142687732017.

rs1426877320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:52076984 (GRCh38)
4:52943150 (GRCh37)
Canonical SPDI:: NC_000004.12:52076983:C:T
Gene:: SPATA18 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_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.52076984C>T, NC_000004.11:g.52943150C>T, NG_051630.1:g.30654C>T, NM_145263.4:c.964C>T, NM_145263.3:c.964C>T, NM_145263.2:c.964C>T, NR_123728.2:n.1365C>T, NR_123728.1:n.1338C>T, NM_001297608.2:c.868C>T, NM_001297608.1:c.868C>T, NM_001346102.2:c.553C>T, NM_001346102.1:c.553C>T, NR_144359.2:n.934C>T, NR_144359.1:n.907C>T, NM_001346103.2:c.289C>T, NM_001346103.1:c.289C>T, XM_005265717.3:c.964C>T, XM_005265717.2:c.964C>T, XM_005265717.1:c.964C>T, XM_017007731.3:c.604C>T, XM_017007731.2:c.604C>T, XM_017007731.1:c.604C>T, XM_011534372.2:c.289C>T, XM_011534372.1:c.289C>T, XR_941044.2:n.1365C>T, XR_941044.1:n.1253C>T, XM_047449604.1:c.649C>T, XM_047449605.1:c.574C>T, XM_047449606.1:c.313C>T, XR_007096360.1:n.1269C>T, NP_660306.1:p.Arg322Trp, NP_001284537.1:p.Arg290Trp, NP_001333031.1:p.Arg185Trp, NP_001333032.1:p.Arg97Trp, XP_005265774.1:p.Arg322Trp, XP_016863220.1:p.Arg202Trp, XP_011532674.1:p.Arg97Trp, XP_047305560.1:p.Arg217Trp, XP_047305561.1:p.Arg192Trp, XP_047305562.1:p.Arg105Trp

Select item 142534373218.

rs1425343732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:52079761 (GRCh38)
4:52945927 (GRCh37)
Canonical SPDI:: NC_000004.12:52079760:G:C
Gene:: SPATA18 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.52079761G>C, NC_000004.11:g.52945927G>C, NG_051630.1:g.33431G>C, NM_145263.4:c.1197G>C, NM_145263.3:c.1197G>C, NM_145263.2:c.1197G>C, NR_123728.2:n.1598G>C, NR_123728.1:n.1571G>C, NM_001297608.2:c.1101G>C, NM_001297608.1:c.1101G>C, NM_001346102.2:c.786G>C, NM_001346102.1:c.786G>C, NR_144359.2:n.1167G>C, NR_144359.1:n.1140G>C, NM_001346103.2:c.522G>C, NM_001346103.1:c.522G>C, XM_017007731.3:c.837G>C, XM_017007731.2:c.837G>C, XM_017007731.1:c.837G>C, XM_011534372.2:c.522G>C, XM_011534372.1:c.522G>C, XM_047449604.1:c.882G>C, XM_047449605.1:c.807G>C, XM_047449606.1:c.546G>C, XR_007096360.1:n.1502G>C, NP_660306.1:p.Met399Ile, NP_001284537.1:p.Met367Ile, NP_001333031.1:p.Met262Ile, NP_001333032.1:p.Met174Ile, XP_016863220.1:p.Met279Ile, XP_011532674.1:p.Met174Ile, XP_047305560.1:p.Met294Ile, XP_047305561.1:p.Met269Ile, XP_047305562.1:p.Met182Ile

Select item 142278560119.

rs1422785601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:52082444 (GRCh38)
4:52948610 (GRCh37)
Canonical SPDI:: NC_000004.12:52082443:G:A
Gene:: SPATA18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,stop_gained,intron_variant,non_coding_transcript_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_000004.12:g.52082444G>A, NC_000004.11:g.52948610G>A, NG_051630.1:g.36114G>A, NM_145263.4:c.1413G>A, NM_145263.3:c.1413G>A, NM_145263.2:c.1413G>A, NR_123728.2:n.1814G>A, NR_123728.1:n.1787G>A, NM_001297608.2:c.1317G>A, NM_001297608.1:c.1317G>A, NM_001346102.2:c.1002G>A, NM_001346102.1:c.1002G>A, NR_144359.2:n.1383G>A, NR_144359.1:n.1356G>A, NM_001346103.2:c.738G>A, NM_001346103.1:c.738G>A, XM_017007731.3:c.1053G>A, XM_017007731.2:c.1053G>A, XM_017007731.1:c.1053G>A, XM_011534372.2:c.738G>A, XM_011534372.1:c.738G>A, XM_047449604.1:c.1098G>A, XM_047449605.1:c.1023G>A, XM_047449606.1:c.762G>A, XR_007096360.1:n.1718G>A, NP_660306.1:p.Trp471Ter, NP_001284537.1:p.Trp439Ter, NP_001333031.1:p.Trp334Ter, NP_001333032.1:p.Trp246Ter, XP_016863220.1:p.Trp351Ter, XP_011532674.1:p.Trp246Ter, XP_047305560.1:p.Trp366Ter, XP_047305561.1:p.Trp341Ter, XP_047305562.1:p.Trp254Ter

Select item 141664614520.

rs1416646145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:52078815 (GRCh38)
4:52944981 (GRCh37)
Canonical SPDI:: NC_000004.12:52078814:G:A
Gene:: SPATA18 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.52078815G>A, NC_000004.11:g.52944981G>A, NG_051630.1:g.32485G>A, NM_145263.4:c.1101G>A, NM_145263.3:c.1101G>A, NM_145263.2:c.1101G>A, NR_123728.2:n.1502G>A, NR_123728.1:n.1475G>A, NM_001297608.2:c.1005G>A, NM_001297608.1:c.1005G>A, NM_001346102.2:c.690G>A, NM_001346102.1:c.690G>A, NR_144359.2:n.1071G>A, NR_144359.1:n.1044G>A, NM_001346103.2:c.426G>A, NM_001346103.1:c.426G>A, XM_017007731.3:c.741G>A, XM_017007731.2:c.741G>A, XM_017007731.1:c.741G>A, XM_011534372.2:c.426G>A, XM_011534372.1:c.426G>A, XR_941044.2:n.1585G>A, XR_941044.1:n.1473G>A, XM_047449604.1:c.786G>A, XM_047449605.1:c.711G>A, XM_047449606.1:c.450G>A, XR_007096360.1:n.1406G>A

<< First< Prev

Page of 19

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 361

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity