SNP Links for Protein (Select 768024755) - SNP

Select item 14901440471.

rs1490144047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:20150720 (GRCh38)
22:20138243 (GRCh37)
Canonical SPDI:: NC_000022.11:20150719:A:G
Gene:: CCDC188 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.20150720A>G, NC_000022.10:g.20138243A>G, XM_005261238.4:c.267T>C, XM_005261238.3:c.267T>C, XM_005261238.2:c.267T>C, XM_005261238.1:c.267T>C, XM_005261239.4:c.267T>C, XM_005261239.3:c.267T>C, XM_005261239.2:c.267T>C, XM_005261239.1:c.267T>C, XM_005261241.4:c.267T>C, XM_005261241.3:c.267T>C, XM_005261241.2:c.267T>C, XM_005261241.1:c.267T>C, XM_011530171.3:c.267T>C, XM_011530171.2:c.267T>C, XM_011530171.1:c.267T>C, NM_001365892.2:c.267T>C, NM_001365892.1:c.267T>C, XM_047441358.1:c.267T>C, XM_047441357.1:c.267T>C, XM_047441359.1:c.267T>C

Select item 14899047982.

rs1489904798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:20148587 (GRCh38)
22:20136110 (GRCh37)
Canonical SPDI:: NC_000022.11:20148586:C:A
Gene:: CCDC188 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.20148587C>A, NC_000022.10:g.20136110C>A, NG_021420.1:g.21747C>A, XM_005261238.4:c.1186G>T, XM_005261238.3:c.1186G>T, XM_005261238.2:c.1186G>T, XM_005261238.1:c.1186G>T, XM_005261239.4:c.1129G>T, XM_005261239.3:c.1129G>T, XM_005261239.2:c.1129G>T, XM_005261239.1:c.1129G>T, XM_005261241.4:c.1078G>T, XM_005261241.3:c.1078G>T, XM_005261241.2:c.1078G>T, XM_005261241.1:c.1078G>T, XM_011530171.3:c.1081G>T, XM_011530171.2:c.1081G>T, XM_011530171.1:c.1081G>T, NM_001365892.2:c.*27G>T, NM_001365892.1:c.*27G>T, XM_047441358.1:c.*27G>T, XM_047441357.1:c.1360G>T, XM_047441359.1:c.1252G>T, NM_001243537.1:c.*27G>T, XP_005261295.1:p.Glu396Ter, XP_005261296.1:p.Glu377Ter, XP_005261298.1:p.Glu360Ter, XP_011528473.1:p.Glu361Ter, XP_047297313.1:p.Glu454Ter, XP_047297315.1:p.Glu418Ter

Select item 14895561503.

rs1489556150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:20149464 (GRCh38)
22:20136987 (GRCh37)
Canonical SPDI:: NC_000022.11:20149463:C:T
Gene:: CCDC188 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.20149464C>T, NC_000022.10:g.20136987C>T, NG_021420.1:g.22624C>T, XM_005261238.4:c.862G>A, XM_005261238.3:c.862G>A, XM_005261238.2:c.862G>A, XM_005261238.1:c.862G>A, XM_005261239.4:c.805G>A, XM_005261239.3:c.805G>A, XM_005261239.2:c.805G>A, XM_005261239.1:c.805G>A, XM_005261241.4:c.754G>A, XM_005261241.3:c.754G>A, XM_005261241.2:c.754G>A, XM_005261241.1:c.754G>A, XM_011530171.3:c.757G>A, XM_011530171.2:c.757G>A, XM_011530171.1:c.757G>A, NM_001365892.2:c.862G>A, NM_001365892.1:c.862G>A, XM_047441358.1:c.1036G>A, XM_047441357.1:c.1036G>A, XM_047441359.1:c.928G>A, NM_001243537.1:c.88G>A, XP_005261295.1:p.Asp288Asn, XP_005261296.1:p.Asp269Asn, XP_005261298.1:p.Asp252Asn, XP_011528473.1:p.Asp253Asn, NP_001352821.1:p.Asp288Asn, XP_047297314.1:p.Asp346Asn, XP_047297313.1:p.Asp346Asn, XP_047297315.1:p.Asp310Asn

Select item 14880968634.

rs1488096863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:20148666 (GRCh38)
22:20136189 (GRCh37)
Canonical SPDI:: NC_000022.11:20148665:G:A,NC_000022.11:20148665:G:C
Gene:: CCDC188 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_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_000022.11:g.20148666G>A, NC_000022.11:g.20148666G>C, NC_000022.10:g.20136189G>A, NC_000022.10:g.20136189G>C, NG_021420.1:g.21826G>A, NG_021420.1:g.21826G>C, XM_005261238.4:c.1107C>T, XM_005261238.4:c.1107C>G, XM_005261238.3:c.1107C>T, XM_005261238.3:c.1107C>G, XM_005261238.2:c.1107C>T, XM_005261238.2:c.1107C>G, XM_005261238.1:c.1107C>T, XM_005261238.1:c.1107C>G, XM_005261239.4:c.1050C>T, XM_005261239.4:c.1050C>G, XM_005261239.3:c.1050C>T, XM_005261239.3:c.1050C>G, XM_005261239.2:c.1050C>T, XM_005261239.2:c.1050C>G, XM_005261239.1:c.1050C>T, XM_005261239.1:c.1050C>G, XM_005261241.4:c.999C>T, XM_005261241.4:c.999C>G, XM_005261241.3:c.999C>T, XM_005261241.3:c.999C>G, XM_005261241.2:c.999C>T, XM_005261241.2:c.999C>G, XM_005261241.1:c.999C>T, XM_005261241.1:c.999C>G, XM_011530171.3:c.1002C>T, XM_011530171.3:c.1002C>G, XM_011530171.2:c.1002C>T, XM_011530171.2:c.1002C>G, XM_011530171.1:c.1002C>T, XM_011530171.1:c.1002C>G, NM_001365892.2:c.1157C>T, NM_001365892.2:c.1157C>G, NM_001365892.1:c.1157C>T, NM_001365892.1:c.1157C>G, XM_047441358.1:c.1331C>T, XM_047441358.1:c.1331C>G, XM_047441357.1:c.1281C>T, XM_047441357.1:c.1281C>G, XM_047441359.1:c.1173C>T, XM_047441359.1:c.1173C>G, NM_001243537.1:c.383C>T, NM_001243537.1:c.383C>G, NP_001352821.1:p.Ala386Val, NP_001352821.1:p.Ala386Gly, XP_047297314.1:p.Ala444Val, XP_047297314.1:p.Ala444Gly

Select item 14840935635.

rs1484093563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:20149227 (GRCh38)
22:20136750 (GRCh37)
Canonical SPDI:: NC_000022.11:20149226:C:T
Gene:: CCDC188 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.20149227C>T, NC_000022.10:g.20136750C>T, NG_021420.1:g.22387C>T, XM_005261238.4:c.932G>A, XM_005261238.3:c.932G>A, XM_005261238.2:c.932G>A, XM_005261238.1:c.932G>A, XM_005261239.4:c.875G>A, XM_005261239.3:c.875G>A, XM_005261239.2:c.875G>A, XM_005261239.1:c.875G>A, XM_005261241.4:c.824G>A, XM_005261241.3:c.824G>A, XM_005261241.2:c.824G>A, XM_005261241.1:c.824G>A, XM_011530171.3:c.827G>A, XM_011530171.2:c.827G>A, XM_011530171.1:c.827G>A, NM_001365892.2:c.932G>A, NM_001365892.1:c.932G>A, XM_047441358.1:c.1106G>A, XM_047441357.1:c.1106G>A, XM_047441359.1:c.998G>A, NM_001243537.1:c.158G>A, XP_005261295.1:p.Arg311His, XP_005261296.1:p.Arg292His, XP_005261298.1:p.Arg275His, XP_011528473.1:p.Arg276His, NP_001352821.1:p.Arg311His, XP_047297314.1:p.Arg369His, XP_047297313.1:p.Arg369His, XP_047297315.1:p.Arg333His

Select item 14818695876.

rs1481869587 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:20150706 (GRCh38)
22:20138229 (GRCh37)
Canonical SPDI:: NC_000022.11:20150705:T:C
Gene:: CCDC188 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000022.11:g.20150706T>C, NC_000022.10:g.20138229T>C, XM_005261238.4:c.281A>G, XM_005261238.3:c.281A>G, XM_005261238.2:c.281A>G, XM_005261238.1:c.281A>G, XM_005261239.4:c.281A>G, XM_005261239.3:c.281A>G, XM_005261239.2:c.281A>G, XM_005261239.1:c.281A>G, XM_005261241.4:c.281A>G, XM_005261241.3:c.281A>G, XM_005261241.2:c.281A>G, XM_005261241.1:c.281A>G, XM_011530171.3:c.281A>G, XM_011530171.2:c.281A>G, XM_011530171.1:c.281A>G, NM_001365892.2:c.281A>G, NM_001365892.1:c.281A>G, XM_047441358.1:c.281A>G, XM_047441357.1:c.281A>G, XM_047441359.1:c.281A>G, XP_005261295.1:p.Gln94Arg, XP_005261296.1:p.Gln94Arg, XP_005261298.1:p.Gln94Arg, XP_011528473.1:p.Gln94Arg, NP_001352821.1:p.Gln94Arg, XP_047297314.1:p.Gln94Arg, XP_047297313.1:p.Gln94Arg, XP_047297315.1:p.Gln94Arg

Select item 14810350997.

rs1481035099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:20150161 (GRCh38)
22:20137684 (GRCh37)
Canonical SPDI:: NC_000022.11:20150160:G:T
Gene:: CCDC188 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.20150161G>T, NC_000022.10:g.20137684G>T, XM_005261238.4:c.609C>A, XM_005261238.3:c.609C>A, XM_005261238.2:c.609C>A, XM_005261238.1:c.609C>A, XM_005261239.4:c.609C>A, XM_005261239.3:c.609C>A, XM_005261239.2:c.609C>A, XM_005261239.1:c.609C>A, XM_011530171.3:c.609C>A, XM_011530171.2:c.609C>A, XM_011530171.1:c.609C>A, NM_001365892.2:c.609C>A, NM_001365892.1:c.609C>A, XM_047441358.1:c.609C>A, XM_047441357.1:c.609C>A, XP_005261295.1:p.Ser203Arg, XP_005261296.1:p.Ser203Arg, XP_011528473.1:p.Ser203Arg, NP_001352821.1:p.Ser203Arg, XP_047297314.1:p.Ser203Arg, XP_047297313.1:p.Ser203Arg

Select item 14800772748.

rs1480077274 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:20150606 (GRCh38)
22:20138129 (GRCh37)
Canonical SPDI:: NC_000022.11:20150605:T:C,NC_000022.11:20150605:T:G
Gene:: CCDC188 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000022.11:g.20150606T>C, NC_000022.11:g.20150606T>G, NC_000022.10:g.20138129T>C, NC_000022.10:g.20138129T>G, XM_005261238.4:c.381A>G, XM_005261238.4:c.381A>C, XM_005261238.3:c.381A>G, XM_005261238.3:c.381A>C, XM_005261238.2:c.381A>G, XM_005261238.2:c.381A>C, XM_005261238.1:c.381A>G, XM_005261238.1:c.381A>C, XM_005261239.4:c.381A>G, XM_005261239.4:c.381A>C, XM_005261239.3:c.381A>G, XM_005261239.3:c.381A>C, XM_005261239.2:c.381A>G, XM_005261239.2:c.381A>C, XM_005261239.1:c.381A>G, XM_005261239.1:c.381A>C, XM_005261241.4:c.381A>G, XM_005261241.4:c.381A>C, XM_005261241.3:c.381A>G, XM_005261241.3:c.381A>C, XM_005261241.2:c.381A>G, XM_005261241.2:c.381A>C, XM_005261241.1:c.381A>G, XM_005261241.1:c.381A>C, XM_011530171.3:c.381A>G, XM_011530171.3:c.381A>C, XM_011530171.2:c.381A>G, XM_011530171.2:c.381A>C, XM_011530171.1:c.381A>G, XM_011530171.1:c.381A>C, NM_001365892.2:c.381A>G, NM_001365892.2:c.381A>C, NM_001365892.1:c.381A>G, NM_001365892.1:c.381A>C, XM_047441358.1:c.381A>G, XM_047441358.1:c.381A>C, XM_047441357.1:c.381A>G, XM_047441357.1:c.381A>C, XM_047441359.1:c.381A>G, XM_047441359.1:c.381A>C, XP_005261295.1:p.Arg127Ser, XP_005261296.1:p.Arg127Ser, XP_005261298.1:p.Arg127Ser, XP_011528473.1:p.Arg127Ser, NP_001352821.1:p.Arg127Ser, XP_047297314.1:p.Arg127Ser, XP_047297313.1:p.Arg127Ser, XP_047297315.1:p.Arg127Ser

Select item 14799729099.

rs1479972909 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAGGCGGATCTGC>- [Show Flanks]
Chromosome:: 22:20149756 (GRCh38)
22:20137279 (GRCh37)
Canonical SPDI:: NC_000022.11:20149753:GCACAGGCGGATCTGC:GC
Gene:: CCDC188 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0.000071/1 (ALFA)
-=0.000008/1 (GnomAD_exomes)
-=0.000015/4 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000022.11:g.20149756_20149769del, NC_000022.10:g.20137279_20137292del, NG_021420.1:g.22916_22929del, XM_005261238.4:c.746_759del, XM_005261238.3:c.746_759del, XM_005261238.2:c.746_759del, XM_005261238.1:c.746_759del, XM_005261241.4:c.638_651del, XM_005261241.3:c.638_651del, XM_005261241.2:c.638_651del, XM_005261241.1:c.638_651del, XM_011530171.3:c.641_654del, XM_011530171.2:c.641_654del, XM_011530171.1:c.641_654del, NM_001365892.2:c.746_759del, NM_001365892.1:c.746_759del, XM_047441358.1:c.920_933del, XM_047441357.1:c.920_933del, XM_047441359.1:c.812_825del, NM_001243537.1:c.-29_-16del, XP_005261295.1:p.Gln249fs, XP_005261298.1:p.Gln213fs, XP_011528473.1:p.Gln214fs, NP_001352821.1:p.Gln249fs, XP_047297314.1:p.Gln307fs, XP_047297313.1:p.Gln307fs, XP_047297315.1:p.Gln271fs

Select item 147792969710.

rs1477929697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:20150893 (GRCh38)
22:20138416 (GRCh37)
Canonical SPDI:: NC_000022.11:20150892:G:C
Gene:: CCDC188 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.20150893G>C, NC_000022.10:g.20138416G>C, XM_005261238.4:c.94C>G, XM_005261238.3:c.94C>G, XM_005261238.2:c.94C>G, XM_005261238.1:c.94C>G, XM_005261239.4:c.94C>G, XM_005261239.3:c.94C>G, XM_005261239.2:c.94C>G, XM_005261239.1:c.94C>G, XM_005261241.4:c.94C>G, XM_005261241.3:c.94C>G, XM_005261241.2:c.94C>G, XM_005261241.1:c.94C>G, XM_011530171.3:c.94C>G, XM_011530171.2:c.94C>G, XM_011530171.1:c.94C>G, NM_001365892.2:c.94C>G, NM_001365892.1:c.94C>G, XM_047441358.1:c.94C>G, XM_047441357.1:c.94C>G, XM_047441359.1:c.94C>G, XP_005261295.1:p.Gln32Glu, XP_005261296.1:p.Gln32Glu, XP_005261298.1:p.Gln32Glu, XP_011528473.1:p.Gln32Glu, NP_001352821.1:p.Gln32Glu, XP_047297314.1:p.Gln32Glu, XP_047297313.1:p.Gln32Glu, XP_047297315.1:p.Gln32Glu

Select item 147640591311.

rs1476405913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:20150732 (GRCh38)
22:20138255 (GRCh37)
Canonical SPDI:: NC_000022.11:20150731:T:G
Gene:: CCDC188 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.20150732T>G, NC_000022.10:g.20138255T>G, XM_005261238.4:c.255A>C, XM_005261238.3:c.255A>C, XM_005261238.2:c.255A>C, XM_005261238.1:c.255A>C, XM_005261239.4:c.255A>C, XM_005261239.3:c.255A>C, XM_005261239.2:c.255A>C, XM_005261239.1:c.255A>C, XM_005261241.4:c.255A>C, XM_005261241.3:c.255A>C, XM_005261241.2:c.255A>C, XM_005261241.1:c.255A>C, XM_011530171.3:c.255A>C, XM_011530171.2:c.255A>C, XM_011530171.1:c.255A>C, NM_001365892.2:c.255A>C, NM_001365892.1:c.255A>C, XM_047441358.1:c.255A>C, XM_047441357.1:c.255A>C, XM_047441359.1:c.255A>C, XP_005261295.1:p.Arg85Ser, XP_005261296.1:p.Arg85Ser, XP_005261298.1:p.Arg85Ser, XP_011528473.1:p.Arg85Ser, NP_001352821.1:p.Arg85Ser, XP_047297314.1:p.Arg85Ser, XP_047297313.1:p.Arg85Ser, XP_047297315.1:p.Arg85Ser

Select item 147145819512.

rs1471458195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:20150599 (GRCh38)
22:20138122 (GRCh37)
Canonical SPDI:: NC_000022.11:20150598:G:A
Gene:: CCDC188 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.20150599G>A, NC_000022.10:g.20138122G>A, XM_005261238.4:c.388C>T, XM_005261238.3:c.388C>T, XM_005261238.2:c.388C>T, XM_005261238.1:c.388C>T, XM_005261239.4:c.388C>T, XM_005261239.3:c.388C>T, XM_005261239.2:c.388C>T, XM_005261239.1:c.388C>T, XM_005261241.4:c.388C>T, XM_005261241.3:c.388C>T, XM_005261241.2:c.388C>T, XM_005261241.1:c.388C>T, XM_011530171.3:c.388C>T, XM_011530171.2:c.388C>T, XM_011530171.1:c.388C>T, NM_001365892.2:c.388C>T, NM_001365892.1:c.388C>T, XM_047441358.1:c.388C>T, XM_047441357.1:c.388C>T, XM_047441359.1:c.388C>T, XP_005261295.1:p.Pro130Ser, XP_005261296.1:p.Pro130Ser, XP_005261298.1:p.Pro130Ser, XP_011528473.1:p.Pro130Ser, NP_001352821.1:p.Pro130Ser, XP_047297314.1:p.Pro130Ser, XP_047297313.1:p.Pro130Ser, XP_047297315.1:p.Pro130Ser

Select item 147031964313.

rs1470319643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:20150570 (GRCh38)
22:20138093 (GRCh37)
Canonical SPDI:: NC_000022.11:20150569:C:T
Gene:: CCDC188 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.20150570C>T, NC_000022.10:g.20138093C>T, XM_005261238.4:c.417G>A, XM_005261238.3:c.417G>A, XM_005261238.2:c.417G>A, XM_005261238.1:c.417G>A, XM_005261239.4:c.417G>A, XM_005261239.3:c.417G>A, XM_005261239.2:c.417G>A, XM_005261239.1:c.417G>A, XM_005261241.4:c.417G>A, XM_005261241.3:c.417G>A, XM_005261241.2:c.417G>A, XM_005261241.1:c.417G>A, XM_011530171.3:c.417G>A, XM_011530171.2:c.417G>A, XM_011530171.1:c.417G>A, NM_001365892.2:c.417G>A, NM_001365892.1:c.417G>A, XM_047441358.1:c.417G>A, XM_047441357.1:c.417G>A, XM_047441359.1:c.417G>A

Select item 147006585614.

rs1470065856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:20150657 (GRCh38)
22:20138180 (GRCh37)
Canonical SPDI:: NC_000022.11:20150656:C:T
Gene:: CCDC188 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.20150657C>T, NC_000022.10:g.20138180C>T, XM_005261238.4:c.330G>A, XM_005261238.3:c.330G>A, XM_005261238.2:c.330G>A, XM_005261238.1:c.330G>A, XM_005261239.4:c.330G>A, XM_005261239.3:c.330G>A, XM_005261239.2:c.330G>A, XM_005261239.1:c.330G>A, XM_005261241.4:c.330G>A, XM_005261241.3:c.330G>A, XM_005261241.2:c.330G>A, XM_005261241.1:c.330G>A, XM_011530171.3:c.330G>A, XM_011530171.2:c.330G>A, XM_011530171.1:c.330G>A, NM_001365892.2:c.330G>A, NM_001365892.1:c.330G>A, XM_047441358.1:c.330G>A, XM_047441357.1:c.330G>A, XM_047441359.1:c.330G>A

Select item 146843976815.

rs1468439768 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGAAAGA>- [Show Flanks]
Chromosome:: 22:20150750 (GRCh38)
22:20138273 (GRCh37)
Canonical SPDI:: NC_000022.11:20150747:GACAGAAAGA:GA
Gene:: CCDC188 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.20150750_20150757del, NC_000022.10:g.20138273_20138280del, XM_005261238.4:c.232_239del, XM_005261238.3:c.232_239del, XM_005261238.2:c.232_239del, XM_005261238.1:c.232_239del, XM_005261239.4:c.232_239del, XM_005261239.3:c.232_239del, XM_005261239.2:c.232_239del, XM_005261239.1:c.232_239del, XM_005261241.4:c.232_239del, XM_005261241.3:c.232_239del, XM_005261241.2:c.232_239del, XM_005261241.1:c.232_239del, XM_011530171.3:c.232_239del, XM_011530171.2:c.232_239del, XM_011530171.1:c.232_239del, NM_001365892.2:c.232_239del, NM_001365892.1:c.232_239del, XM_047441358.1:c.232_239del, XM_047441357.1:c.232_239del, XM_047441359.1:c.232_239del, XP_005261295.1:p.Phe78fs, XP_005261296.1:p.Phe78fs, XP_005261298.1:p.Phe78fs, XP_011528473.1:p.Phe78fs, NP_001352821.1:p.Phe78fs, XP_047297314.1:p.Phe78fs, XP_047297313.1:p.Phe78fs, XP_047297315.1:p.Phe78fs

Select item 146820728616.

rs1468207286 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCAGCAGGGCG>- [Show Flanks]
Chromosome:: 22:20148762 (GRCh38)
22:20136285 (GRCh37)
Canonical SPDI:: NC_000022.11:20148760:GACCAGCAGGGCG:G
Gene:: CCDC188 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.00001/1 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.20148762_20148773del, NC_000022.10:g.20136285_20136296del, NG_021420.1:g.21922_21933del, XM_005261238.4:c.1001_1012del, XM_005261238.3:c.1001_1012del, XM_005261238.2:c.1001_1012del, XM_005261238.1:c.1001_1012del, XM_005261239.4:c.944_955del, XM_005261239.3:c.944_955del, XM_005261239.2:c.944_955del, XM_005261239.1:c.944_955del, XM_005261241.4:c.893_904del, XM_005261241.3:c.893_904del, XM_005261241.2:c.893_904del, XM_005261241.1:c.893_904del, XM_011530171.3:c.896_907del, XM_011530171.2:c.896_907del, XM_011530171.1:c.896_907del, NM_001365892.2:c.1051_1062del, NM_001365892.1:c.1051_1062del, XM_047441358.1:c.1225_1236del, XM_047441357.1:c.1175_1186del, XM_047441359.1:c.1067_1078del, NM_001243537.1:c.277_288del, XP_005261295.1:p.Arg334_Gly337del, XP_005261296.1:p.Arg315_Gly318del, XP_005261298.1:p.Arg298_Gly301del, XP_011528473.1:p.Arg299_Gly302del, NP_001352821.1:p.Ala351_Val354del, XP_047297314.1:p.Ala409_Val412del, XP_047297313.1:p.Arg392_Gly395del, XP_047297315.1:p.Arg356_Gly359del

Select item 146587435917.

rs1465874359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:20150978 (GRCh38)
22:20138501 (GRCh37)
Canonical SPDI:: NC_000022.11:20150977:C:T
Gene:: CCDC188 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.20150978C>T, NC_000022.10:g.20138501C>T, XM_005261238.4:c.9G>A, XM_005261238.3:c.9G>A, XM_005261238.2:c.9G>A, XM_005261238.1:c.9G>A, XM_005261239.4:c.9G>A, XM_005261239.3:c.9G>A, XM_005261239.2:c.9G>A, XM_005261239.1:c.9G>A, XM_005261241.4:c.9G>A, XM_005261241.3:c.9G>A, XM_005261241.2:c.9G>A, XM_005261241.1:c.9G>A, XM_011530171.3:c.9G>A, XM_011530171.2:c.9G>A, XM_011530171.1:c.9G>A, NM_001365892.2:c.9G>A, NM_001365892.1:c.9G>A, XM_047441358.1:c.9G>A, XM_047441357.1:c.9G>A, XM_047441359.1:c.9G>A

Select item 146218121818.

rs1462181218 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:20149606 (GRCh38)
22:20137129 (GRCh37)
Canonical SPDI:: NC_000022.11:20149605:A:G
Gene:: CCDC188 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.20149606A>G, NC_000022.10:g.20137129A>G, NG_021420.1:g.22766A>G, XM_005261238.4:c.824T>C, XM_005261238.3:c.824T>C, XM_005261238.2:c.824T>C, XM_005261238.1:c.824T>C, XM_005261239.4:c.767T>C, XM_005261239.3:c.767T>C, XM_005261239.2:c.767T>C, XM_005261239.1:c.767T>C, XM_005261241.4:c.716T>C, XM_005261241.3:c.716T>C, XM_005261241.2:c.716T>C, XM_005261241.1:c.716T>C, XM_011530171.3:c.719T>C, XM_011530171.2:c.719T>C, XM_011530171.1:c.719T>C, NM_001365892.2:c.824T>C, NM_001365892.1:c.824T>C, XM_047441358.1:c.998T>C, XM_047441357.1:c.998T>C, XM_047441359.1:c.890T>C, NM_001243537.1:c.50T>C, XP_005261295.1:p.Leu275Pro, XP_005261296.1:p.Leu256Pro, XP_005261298.1:p.Leu239Pro, XP_011528473.1:p.Leu240Pro, NP_001352821.1:p.Leu275Pro, XP_047297314.1:p.Leu333Pro, XP_047297313.1:p.Leu333Pro, XP_047297315.1:p.Leu297Pro

Select item 146136095619.

rs1461360956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:20150547 (GRCh38)
22:20138070 (GRCh37)
Canonical SPDI:: NC_000022.11:20150546:G:A
Gene:: CCDC188 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.20150547G>A, NC_000022.10:g.20138070G>A, XM_005261238.4:c.440C>T, XM_005261238.3:c.440C>T, XM_005261238.2:c.440C>T, XM_005261238.1:c.440C>T, XM_005261239.4:c.440C>T, XM_005261239.3:c.440C>T, XM_005261239.2:c.440C>T, XM_005261239.1:c.440C>T, XM_005261241.4:c.440C>T, XM_005261241.3:c.440C>T, XM_005261241.2:c.440C>T, XM_005261241.1:c.440C>T, XM_011530171.3:c.440C>T, XM_011530171.2:c.440C>T, XM_011530171.1:c.440C>T, NM_001365892.2:c.440C>T, NM_001365892.1:c.440C>T, XM_047441358.1:c.440C>T, XM_047441357.1:c.440C>T, XM_047441359.1:c.440C>T, XP_005261295.1:p.Ala147Val, XP_005261296.1:p.Ala147Val, XP_005261298.1:p.Ala147Val, XP_011528473.1:p.Ala147Val, NP_001352821.1:p.Ala147Val, XP_047297314.1:p.Ala147Val, XP_047297313.1:p.Ala147Val, XP_047297315.1:p.Ala147Val

Select item 145768195020.

rs1457681950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:20150808 (GRCh38)
22:20138331 (GRCh37)
Canonical SPDI:: NC_000022.11:20150807:A:G
Gene:: CCDC188 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.20150808A>G, NC_000022.10:g.20138331A>G, XM_005261238.4:c.179T>C, XM_005261238.3:c.179T>C, XM_005261238.2:c.179T>C, XM_005261238.1:c.179T>C, XM_005261239.4:c.179T>C, XM_005261239.3:c.179T>C, XM_005261239.2:c.179T>C, XM_005261239.1:c.179T>C, XM_005261241.4:c.179T>C, XM_005261241.3:c.179T>C, XM_005261241.2:c.179T>C, XM_005261241.1:c.179T>C, XM_011530171.3:c.179T>C, XM_011530171.2:c.179T>C, XM_011530171.1:c.179T>C, NM_001365892.2:c.179T>C, NM_001365892.1:c.179T>C, XM_047441358.1:c.179T>C, XM_047441357.1:c.179T>C, XM_047441359.1:c.179T>C, XP_005261295.1:p.Val60Ala, XP_005261296.1:p.Val60Ala, XP_005261298.1:p.Val60Ala, XP_011528473.1:p.Val60Ala, NP_001352821.1:p.Val60Ala, XP_047297314.1:p.Val60Ala, XP_047297313.1:p.Val60Ala, XP_047297315.1:p.Val60Ala

dbSNP

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dbSNP

Result Filters

Validation Status

Function Class

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Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 362

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