SNP Links for Protein (Select 73623026) - SNP

Links from Protein

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Select item 14807242551.

rs1480724255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:187285867 (GRCh38)
3:187003655 (GRCh37)
Canonical SPDI:: NC_000003.12:187285866:G:A
Gene:: MASP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.187285867G>A, NC_000003.11:g.187003655G>A, NG_051120.2:g.128G>A, NW_025791769.1:g.95546G>A, NG_029440.1:g.11156C>T, NM_001879.6:c.195C>T, NM_001879.5:c.195C>T, NM_139125.4:c.195C>T, NM_139125.3:c.195C>T, NM_001031849.3:c.195C>T, NM_001031849.2:c.195C>T, XM_011512990.3:c.216C>T, XM_011512990.2:c.216C>T, XM_011512990.1:c.216C>T, XM_011512989.3:c.216C>T, XM_011512989.2:c.216C>T, XM_011512989.1:c.216C>T, XM_011512991.3:c.216C>T, XM_011512991.2:c.216C>T, XM_011512991.1:c.216C>T, XM_017006871.2:c.216C>T, XM_017006871.1:c.216C>T, XM_017006869.2:c.117C>T, XM_017006869.1:c.117C>T, XM_047448584.1:c.195C>T

Select item 14764018722.

rs1476401872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:187262636 (GRCh38)
3:186980424 (GRCh37)
Canonical SPDI:: NC_000003.12:187262635:G:A,NC_000003.12:187262635:G:T
Gene:: MASP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.187262636G>A, NC_000003.12:g.187262636G>T, NC_000003.11:g.186980424G>A, NC_000003.11:g.186980424G>T, NG_029440.1:g.34387C>T, NG_029440.1:g.34387C>A, NM_001879.6:c.322C>T, NM_001879.6:c.322C>A, NM_001879.5:c.322C>T, NM_001879.5:c.322C>A, NM_139125.4:c.322C>T, NM_139125.4:c.322C>A, NM_139125.3:c.322C>T, NM_139125.3:c.322C>A, NM_001031849.3:c.322C>T, NM_001031849.3:c.322C>A, NM_001031849.2:c.322C>T, NM_001031849.2:c.322C>A, NR_033519.2:n.195C>T, NR_033519.2:n.195C>A, NR_033519.1:n.480C>T, NR_033519.1:n.480C>A, NW_025791769.1:g.72315G>A, NW_025791769.1:g.72315G>T, XM_011512989.3:c.343C>T, XM_011512989.3:c.343C>A, XM_011512989.2:c.343C>T, XM_011512989.2:c.343C>A, XM_011512989.1:c.343C>T, XM_011512989.1:c.343C>A, XM_011512990.3:c.343C>T, XM_011512990.3:c.343C>A, XM_011512990.2:c.343C>T, XM_011512990.2:c.343C>A, XM_011512990.1:c.343C>T, XM_011512990.1:c.343C>A, XM_011512991.3:c.343C>T, XM_011512991.3:c.343C>A, XM_011512991.2:c.343C>T, XM_011512991.2:c.343C>A, XM_011512991.1:c.343C>T, XM_011512991.1:c.343C>A, XM_017006871.2:c.343C>T, XM_017006871.2:c.343C>A, XM_017006871.1:c.343C>T, XM_017006871.1:c.343C>A, XM_017006872.2:c.-18C>T, XM_017006872.2:c.-18C>A, XM_017006872.1:c.-18C>T, XM_017006872.1:c.-18C>A, XM_017006869.2:c.244C>T, XM_017006869.2:c.244C>A, XM_017006869.1:c.244C>T, XM_017006869.1:c.244C>A, XM_047448584.1:c.322C>T, XM_047448584.1:c.322C>A, NP_001870.3:p.Leu108Phe, NP_001870.3:p.Leu108Ile, NP_624302.1:p.Leu108Phe, NP_624302.1:p.Leu108Ile, NP_001027019.1:p.Leu108Phe, NP_001027019.1:p.Leu108Ile, XP_011511291.1:p.Leu115Phe, XP_011511291.1:p.Leu115Ile, XP_011511292.1:p.Leu115Phe, XP_011511292.1:p.Leu115Ile, XP_011511293.1:p.Leu115Phe, XP_011511293.1:p.Leu115Ile, XP_016862360.1:p.Leu115Phe, XP_016862360.1:p.Leu115Ile, XP_016862358.1:p.Leu82Phe, XP_016862358.1:p.Leu82Ile, XP_047304540.1:p.Leu108Phe, XP_047304540.1:p.Leu108Ile

Select item 14752844023.

rs1475284402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 3:187285879 (GRCh38)
3:187003667 (GRCh37)
Canonical SPDI:: NC_000003.12:187285878:G:C,NC_000003.12:187285878:G:T
Gene:: MASP1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.187285879G>C, NC_000003.12:g.187285879G>T, NC_000003.11:g.187003667G>C, NC_000003.11:g.187003667G>T, NG_051120.2:g.140G>C, NG_051120.2:g.140G>T, NW_025791769.1:g.95558G>C, NW_025791769.1:g.95558G>T, NG_029440.1:g.11144C>G, NG_029440.1:g.11144C>A, NM_001879.6:c.183C>G, NM_001879.6:c.183C>A, NM_001879.5:c.183C>G, NM_001879.5:c.183C>A, NM_139125.4:c.183C>G, NM_139125.4:c.183C>A, NM_139125.3:c.183C>G, NM_139125.3:c.183C>A, NM_001031849.3:c.183C>G, NM_001031849.3:c.183C>A, NM_001031849.2:c.183C>G, NM_001031849.2:c.183C>A, XM_011512990.3:c.204C>G, XM_011512990.3:c.204C>A, XM_011512990.2:c.204C>G, XM_011512990.2:c.204C>A, XM_011512990.1:c.204C>G, XM_011512990.1:c.204C>A, XM_011512989.3:c.204C>G, XM_011512989.3:c.204C>A, XM_011512989.2:c.204C>G, XM_011512989.2:c.204C>A, XM_011512989.1:c.204C>G, XM_011512989.1:c.204C>A, XM_011512991.3:c.204C>G, XM_011512991.3:c.204C>A, XM_011512991.2:c.204C>G, XM_011512991.2:c.204C>A, XM_011512991.1:c.204C>G, XM_011512991.1:c.204C>A, XM_017006871.2:c.204C>G, XM_017006871.2:c.204C>A, XM_017006871.1:c.204C>G, XM_017006871.1:c.204C>A, XM_017006869.2:c.105C>G, XM_017006869.2:c.105C>A, XM_017006869.1:c.105C>G, XM_017006869.1:c.105C>A, XM_047448584.1:c.183C>G, XM_047448584.1:c.183C>A, NP_001870.3:p.Tyr61Ter, NP_001870.3:p.Tyr61Ter, NP_624302.1:p.Tyr61Ter, NP_624302.1:p.Tyr61Ter, NP_001027019.1:p.Tyr61Ter, NP_001027019.1:p.Tyr61Ter, XP_011511292.1:p.Tyr68Ter, XP_011511292.1:p.Tyr68Ter, XP_011511291.1:p.Tyr68Ter, XP_011511291.1:p.Tyr68Ter, XP_011511293.1:p.Tyr68Ter, XP_011511293.1:p.Tyr68Ter, XP_016862360.1:p.Tyr68Ter, XP_016862360.1:p.Tyr68Ter, XP_016862358.1:p.Tyr35Ter, XP_016862358.1:p.Tyr35Ter, XP_047304540.1:p.Tyr61Ter, XP_047304540.1:p.Tyr61Ter

Select item 14730614094.

rs1473061409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:187256799 (GRCh38)
3:186974587 (GRCh37)
Canonical SPDI:: NC_000003.12:187256798:T:C
Gene:: MASP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.187256799T>C, NC_000003.11:g.186974587T>C, NG_029440.1:g.40224A>G, NM_001879.6:c.609A>G, NM_001879.5:c.609A>G, NM_139125.4:c.609A>G, NM_139125.3:c.609A>G, NM_001031849.3:c.609A>G, NM_001031849.2:c.609A>G, NR_033519.2:n.482A>G, NR_033519.1:n.767A>G, NW_025791769.1:g.66478T>C, XM_011512989.3:c.630A>G, XM_011512989.2:c.630A>G, XM_011512989.1:c.630A>G, XM_011512990.3:c.630A>G, XM_011512990.2:c.630A>G, XM_011512990.1:c.630A>G, XM_011512991.3:c.630A>G, XM_011512991.2:c.630A>G, XM_011512991.1:c.630A>G, XM_017006871.2:c.630A>G, XM_017006871.1:c.630A>G, XM_017006872.2:c.270A>G, XM_017006872.1:c.270A>G, XM_017006869.2:c.531A>G, XM_017006869.1:c.531A>G, XM_047448584.1:c.609A>G

Select item 14723531885.

rs1472353188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:187247368 (GRCh38)
3:186965156 (GRCh37)
Canonical SPDI:: NC_000003.12:187247367:C:G
Gene:: MASP1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.187247368C>G, NC_000003.11:g.186965156C>G, NG_029440.1:g.49655G>C, NM_001031849.3:c.1108G>C, NM_001031849.2:c.1108G>C, NW_025791769.1:g.57047C>G, XM_011512991.3:c.1129G>C, XM_011512991.2:c.1129G>C, XM_011512991.1:c.1129G>C, NP_001027019.1:p.Glu370Gln, XP_011511293.1:p.Glu377Gln

Select item 14672318366.

rs1467231836 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 3:187253278 (GRCh38)
3:186971066 (GRCh37)
Canonical SPDI:: NC_000003.12:187253277:CC:C
Gene:: MASP1 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.187253279del, NC_000003.11:g.186971067del, NG_029440.1:g.43745del, NM_001879.6:c.782del, NM_001879.5:c.782del, NM_139125.4:c.782del, NM_139125.3:c.782del, NM_001031849.3:c.782del, NM_001031849.2:c.782del, NR_033519.2:n.655del, NR_033519.1:n.940del, NW_025791769.1:g.62958del, XM_011512989.3:c.803del, XM_011512989.2:c.803del, XM_011512989.1:c.803del, XM_011512990.3:c.803del, XM_011512990.2:c.803del, XM_011512990.1:c.803del, XM_011512991.3:c.803del, XM_011512991.2:c.803del, XM_011512991.1:c.803del, XM_017006871.2:c.803del, XM_017006871.1:c.803del, XM_017006872.2:c.443del, XM_017006872.1:c.443del, XM_017006869.2:c.704del, XM_017006869.1:c.704del, XM_047448584.1:c.782del, NP_001870.3:p.Gly261fs, NP_624302.1:p.Gly261fs, NP_001027019.1:p.Gly261fs, XP_011511291.1:p.Gly268fs, XP_011511292.1:p.Gly268fs, XP_011511293.1:p.Gly268fs, XP_016862360.1:p.Gly268fs, XP_016862361.1:p.Gly148fs, XP_016862358.1:p.Gly235fs, XP_047304540.1:p.Gly261fs

Select item 14668904807.

rs1466890480 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:187253257 (GRCh38)
3:186971045 (GRCh37)
Canonical SPDI:: NC_000003.12:187253256:A:T
Gene:: MASP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.187253257A>T, NC_000003.11:g.186971045A>T, NG_029440.1:g.43766T>A, NM_001879.6:c.803T>A, NM_001879.5:c.803T>A, NM_139125.4:c.803T>A, NM_139125.3:c.803T>A, NM_001031849.3:c.803T>A, NM_001031849.2:c.803T>A, NR_033519.2:n.676T>A, NR_033519.1:n.961T>A, NW_025791769.1:g.62936A>T, XM_011512989.3:c.824T>A, XM_011512989.2:c.824T>A, XM_011512989.1:c.824T>A, XM_011512990.3:c.824T>A, XM_011512990.2:c.824T>A, XM_011512990.1:c.824T>A, XM_011512991.3:c.824T>A, XM_011512991.2:c.824T>A, XM_011512991.1:c.824T>A, XM_017006871.2:c.824T>A, XM_017006871.1:c.824T>A, XM_017006872.2:c.464T>A, XM_017006872.1:c.464T>A, XM_017006869.2:c.725T>A, XM_017006869.1:c.725T>A, XM_047448584.1:c.803T>A, NP_001870.3:p.Ile268Asn, NP_624302.1:p.Ile268Asn, NP_001027019.1:p.Ile268Asn, XP_011511291.1:p.Ile275Asn, XP_011511292.1:p.Ile275Asn, XP_011511293.1:p.Ile275Asn, XP_016862360.1:p.Ile275Asn, XP_016862361.1:p.Ile155Asn, XP_016862358.1:p.Ile242Asn, XP_047304540.1:p.Ile268Asn

Select item 14613474018.

rs1461347401 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:187253217 (GRCh38)
3:186971005 (GRCh37)
Canonical SPDI:: NC_000003.12:187253216:A:G
Gene:: MASP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.187253217A>G, NC_000003.11:g.186971005A>G, NG_029440.1:g.43806T>C, NM_001879.6:c.843T>C, NM_001879.5:c.843T>C, NM_139125.4:c.843T>C, NM_139125.3:c.843T>C, NM_001031849.3:c.843T>C, NM_001031849.2:c.843T>C, NR_033519.2:n.716T>C, NR_033519.1:n.1001T>C, NW_025791769.1:g.62896A>G, XM_011512989.3:c.864T>C, XM_011512989.2:c.864T>C, XM_011512989.1:c.864T>C, XM_011512990.3:c.864T>C, XM_011512990.2:c.864T>C, XM_011512990.1:c.864T>C, XM_011512991.3:c.864T>C, XM_011512991.2:c.864T>C, XM_011512991.1:c.864T>C, XM_017006871.2:c.864T>C, XM_017006871.1:c.864T>C, XM_017006872.2:c.504T>C, XM_017006872.1:c.504T>C, XM_017006869.2:c.765T>C, XM_017006869.1:c.765T>C, XM_047448584.1:c.843T>C

Select item 14592454179.

rs1459245417 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:187260760 (GRCh38)
3:186978548 (GRCh37)
Canonical SPDI:: NC_000003.12:187260759:T:A
Gene:: MASP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.187260760T>A, NC_000003.11:g.186978548T>A, NG_029440.1:g.36263A>T, NM_001879.6:c.528A>T, NM_001879.5:c.528A>T, NM_139125.4:c.528A>T, NM_139125.3:c.528A>T, NM_001031849.3:c.528A>T, NM_001031849.2:c.528A>T, NR_033519.2:n.401A>T, NR_033519.1:n.686A>T, NW_025791769.1:g.70439T>A, XM_011512989.3:c.549A>T, XM_011512989.2:c.549A>T, XM_011512989.1:c.549A>T, XM_011512990.3:c.549A>T, XM_011512990.2:c.549A>T, XM_011512990.1:c.549A>T, XM_011512991.3:c.549A>T, XM_011512991.2:c.549A>T, XM_011512991.1:c.549A>T, XM_017006871.2:c.549A>T, XM_017006871.1:c.549A>T, XM_017006872.2:c.189A>T, XM_017006872.1:c.189A>T, XM_017006869.2:c.450A>T, XM_017006869.1:c.450A>T, XM_047448584.1:c.528A>T

Select item 145752139110.

rs1457521391 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:187260809 (GRCh38)
3:186978597 (GRCh37)
Canonical SPDI:: NC_000003.12:187260808:T:C
Gene:: MASP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.187260809T>C, NC_000003.11:g.186978597T>C, NG_029440.1:g.36214A>G, NM_001879.6:c.479A>G, NM_001879.5:c.479A>G, NM_139125.4:c.479A>G, NM_139125.3:c.479A>G, NM_001031849.3:c.479A>G, NM_001031849.2:c.479A>G, NR_033519.2:n.352A>G, NR_033519.1:n.637A>G, NW_025791769.1:g.70488T>C, XM_011512989.3:c.500A>G, XM_011512989.2:c.500A>G, XM_011512989.1:c.500A>G, XM_011512990.3:c.500A>G, XM_011512990.2:c.500A>G, XM_011512990.1:c.500A>G, XM_011512991.3:c.500A>G, XM_011512991.2:c.500A>G, XM_011512991.1:c.500A>G, XM_017006871.2:c.500A>G, XM_017006871.1:c.500A>G, XM_017006872.2:c.140A>G, XM_017006872.1:c.140A>G, XM_017006869.2:c.401A>G, XM_017006869.1:c.401A>G, XM_047448584.1:c.479A>G, NP_001870.3:p.Tyr160Cys, NP_624302.1:p.Tyr160Cys, NP_001027019.1:p.Tyr160Cys, XP_011511291.1:p.Tyr167Cys, XP_011511292.1:p.Tyr167Cys, XP_011511293.1:p.Tyr167Cys, XP_016862360.1:p.Tyr167Cys, XP_016862361.1:p.Tyr47Cys, XP_016862358.1:p.Tyr134Cys, XP_047304540.1:p.Tyr160Cys

Select item 145734935511.

rs1457349355 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:187256786 (GRCh38)
3:186974574 (GRCh37)
Canonical SPDI:: NC_000003.12:187256785:T:G
Gene:: MASP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.187256786T>G, NC_000003.11:g.186974574T>G, NG_029440.1:g.40237A>C, NM_001879.6:c.622A>C, NM_001879.5:c.622A>C, NM_139125.4:c.622A>C, NM_139125.3:c.622A>C, NM_001031849.3:c.622A>C, NM_001031849.2:c.622A>C, NR_033519.2:n.495A>C, NR_033519.1:n.780A>C, NW_025791769.1:g.66465T>G, XM_011512989.3:c.643A>C, XM_011512989.2:c.643A>C, XM_011512989.1:c.643A>C, XM_011512990.3:c.643A>C, XM_011512990.2:c.643A>C, XM_011512990.1:c.643A>C, XM_011512991.3:c.643A>C, XM_011512991.2:c.643A>C, XM_011512991.1:c.643A>C, XM_017006871.2:c.643A>C, XM_017006871.1:c.643A>C, XM_017006872.2:c.283A>C, XM_017006872.1:c.283A>C, XM_017006869.2:c.544A>C, XM_017006869.1:c.544A>C, XM_047448584.1:c.622A>C, NP_001870.3:p.Lys208Gln, NP_624302.1:p.Lys208Gln, NP_001027019.1:p.Lys208Gln, XP_011511291.1:p.Lys215Gln, XP_011511292.1:p.Lys215Gln, XP_011511293.1:p.Lys215Gln, XP_016862360.1:p.Lys215Gln, XP_016862361.1:p.Lys95Gln, XP_016862358.1:p.Lys182Gln, XP_047304540.1:p.Lys208Gln

Select item 145636740812.

rs1456367408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:187285855 (GRCh38)
3:187003643 (GRCh37)
Canonical SPDI:: NC_000003.12:187285854:G:A
Gene:: MASP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000071/1 (TOMMO)
HGVS:: NC_000003.12:g.187285855G>A, NC_000003.11:g.187003643G>A, NG_051120.2:g.116G>A, NW_025791769.1:g.95534G>A, NG_029440.1:g.11168C>T, NM_001879.6:c.207C>T, NM_001879.5:c.207C>T, NM_139125.4:c.207C>T, NM_139125.3:c.207C>T, NM_001031849.3:c.207C>T, NM_001031849.2:c.207C>T, XM_011512990.3:c.228C>T, XM_011512990.2:c.228C>T, XM_011512990.1:c.228C>T, XM_011512989.3:c.228C>T, XM_011512989.2:c.228C>T, XM_011512989.1:c.228C>T, XM_011512991.3:c.228C>T, XM_011512991.2:c.228C>T, XM_011512991.1:c.228C>T, XM_017006871.2:c.228C>T, XM_017006871.1:c.228C>T, XM_017006869.2:c.129C>T, XM_017006869.1:c.129C>T, XM_047448584.1:c.207C>T

Select item 145232332413.

rs1452323324 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:187256716 (GRCh38)
3:186974504 (GRCh37)
Canonical SPDI:: NC_000003.12:187256715:A:G
Gene:: MASP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.187256716A>G, NC_000003.11:g.186974504A>G, NG_029440.1:g.40307T>C, NM_001879.6:c.692T>C, NM_001879.5:c.692T>C, NM_139125.4:c.692T>C, NM_139125.3:c.692T>C, NM_001031849.3:c.692T>C, NM_001031849.2:c.692T>C, NR_033519.2:n.565T>C, NR_033519.1:n.850T>C, NW_025791769.1:g.66395A>G, XM_011512989.3:c.713T>C, XM_011512989.2:c.713T>C, XM_011512989.1:c.713T>C, XM_011512990.3:c.713T>C, XM_011512990.2:c.713T>C, XM_011512990.1:c.713T>C, XM_011512991.3:c.713T>C, XM_011512991.2:c.713T>C, XM_011512991.1:c.713T>C, XM_017006871.2:c.713T>C, XM_017006871.1:c.713T>C, XM_017006872.2:c.353T>C, XM_017006872.1:c.353T>C, XM_017006869.2:c.614T>C, XM_017006869.1:c.614T>C, XM_047448584.1:c.692T>C, NP_001870.3:p.Ile231Thr, NP_624302.1:p.Ile231Thr, NP_001027019.1:p.Ile231Thr, XP_011511291.1:p.Ile238Thr, XP_011511292.1:p.Ile238Thr, XP_011511293.1:p.Ile238Thr, XP_016862360.1:p.Ile238Thr, XP_016862361.1:p.Ile118Thr, XP_016862358.1:p.Ile205Thr, XP_047304540.1:p.Ile231Thr

Select item 144674309614.

rs1446743096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:187256759 (GRCh38)
3:186974547 (GRCh37)
Canonical SPDI:: NC_000003.12:187256758:C:T
Gene:: MASP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.187256759C>T, NC_000003.11:g.186974547C>T, NG_029440.1:g.40264G>A, NM_001879.6:c.649G>A, NM_001879.5:c.649G>A, NM_139125.4:c.649G>A, NM_139125.3:c.649G>A, NM_001031849.3:c.649G>A, NM_001031849.2:c.649G>A, NR_033519.2:n.522G>A, NR_033519.1:n.807G>A, NW_025791769.1:g.66438C>T, XM_011512989.3:c.670G>A, XM_011512989.2:c.670G>A, XM_011512989.1:c.670G>A, XM_011512990.3:c.670G>A, XM_011512990.2:c.670G>A, XM_011512990.1:c.670G>A, XM_011512991.3:c.670G>A, XM_011512991.2:c.670G>A, XM_011512991.1:c.670G>A, XM_017006871.2:c.670G>A, XM_017006871.1:c.670G>A, XM_017006872.2:c.310G>A, XM_017006872.1:c.310G>A, XM_017006869.2:c.571G>A, XM_017006869.1:c.571G>A, XM_047448584.1:c.649G>A, NP_001870.3:p.Glu217Lys, NP_624302.1:p.Glu217Lys, NP_001027019.1:p.Glu217Lys, XP_011511291.1:p.Glu224Lys, XP_011511292.1:p.Glu224Lys, XP_011511293.1:p.Glu224Lys, XP_016862360.1:p.Glu224Lys, XP_016862361.1:p.Glu104Lys, XP_016862358.1:p.Glu191Lys, XP_047304540.1:p.Glu217Lys

Select item 144079337515.

rs1440793375 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:187253174 (GRCh38)
3:186970962 (GRCh37)
Canonical SPDI:: NC_000003.12:187253173:C:T
Gene:: MASP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.187253174C>T, NC_000003.11:g.186970962C>T, NG_029440.1:g.43849G>A, NM_001879.6:c.886G>A, NM_001879.5:c.886G>A, NM_139125.4:c.886G>A, NM_139125.3:c.886G>A, NM_001031849.3:c.886G>A, NM_001031849.2:c.886G>A, NR_033519.2:n.759G>A, NR_033519.1:n.1044G>A, NW_025791769.1:g.62853C>T, XM_011512989.3:c.907G>A, XM_011512989.2:c.907G>A, XM_011512989.1:c.907G>A, XM_011512990.3:c.907G>A, XM_011512990.2:c.907G>A, XM_011512990.1:c.907G>A, XM_011512991.3:c.907G>A, XM_011512991.2:c.907G>A, XM_011512991.1:c.907G>A, XM_017006871.2:c.907G>A, XM_017006871.1:c.907G>A, XM_017006872.2:c.547G>A, XM_017006872.1:c.547G>A, XM_017006869.2:c.808G>A, XM_017006869.1:c.808G>A, XM_047448584.1:c.886G>A, NP_001870.3:p.Ala296Thr, NP_624302.1:p.Ala296Thr, NP_001027019.1:p.Ala296Thr, XP_011511291.1:p.Ala303Thr, XP_011511292.1:p.Ala303Thr, XP_011511293.1:p.Ala303Thr, XP_016862360.1:p.Ala303Thr, XP_016862361.1:p.Ala183Thr, XP_016862358.1:p.Ala270Thr, XP_047304540.1:p.Ala296Thr

Select item 143947855116.

rs1439478551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:187253282 (GRCh38)
3:186971070 (GRCh37)
Canonical SPDI:: NC_000003.12:187253281:A:G
Gene:: MASP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.187253282A>G, NC_000003.11:g.186971070A>G, NG_029440.1:g.43741T>C, NM_001879.6:c.778T>C, NM_001879.5:c.778T>C, NM_139125.4:c.778T>C, NM_139125.3:c.778T>C, NM_001031849.3:c.778T>C, NM_001031849.2:c.778T>C, NR_033519.2:n.651T>C, NR_033519.1:n.936T>C, NW_025791769.1:g.62961A>G, XM_011512989.3:c.799T>C, XM_011512989.2:c.799T>C, XM_011512989.1:c.799T>C, XM_011512990.3:c.799T>C, XM_011512990.2:c.799T>C, XM_011512990.1:c.799T>C, XM_011512991.3:c.799T>C, XM_011512991.2:c.799T>C, XM_011512991.1:c.799T>C, XM_017006871.2:c.799T>C, XM_017006871.1:c.799T>C, XM_017006872.2:c.439T>C, XM_017006872.1:c.439T>C, XM_017006869.2:c.700T>C, XM_017006869.1:c.700T>C, XM_047448584.1:c.778T>C, NP_001870.3:p.Cys260Arg, NP_624302.1:p.Cys260Arg, NP_001027019.1:p.Cys260Arg, XP_011511291.1:p.Cys267Arg, XP_011511292.1:p.Cys267Arg, XP_011511293.1:p.Cys267Arg, XP_016862360.1:p.Cys267Arg, XP_016862361.1:p.Cys147Arg, XP_016862358.1:p.Cys234Arg, XP_047304540.1:p.Cys260Arg

Select item 143769568317.

rs1437695683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:187256729 (GRCh38)
3:186974517 (GRCh37)
Canonical SPDI:: NC_000003.12:187256728:G:A,NC_000003.12:187256728:G:T
Gene:: MASP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.187256729G>A, NC_000003.12:g.187256729G>T, NC_000003.11:g.186974517G>A, NC_000003.11:g.186974517G>T, NG_029440.1:g.40294C>T, NG_029440.1:g.40294C>A, NM_001879.6:c.679C>T, NM_001879.6:c.679C>A, NM_001879.5:c.679C>T, NM_001879.5:c.679C>A, NM_139125.4:c.679C>T, NM_139125.4:c.679C>A, NM_139125.3:c.679C>T, NM_139125.3:c.679C>A, NM_001031849.3:c.679C>T, NM_001031849.3:c.679C>A, NM_001031849.2:c.679C>T, NM_001031849.2:c.679C>A, NR_033519.2:n.552C>T, NR_033519.2:n.552C>A, NR_033519.1:n.837C>T, NR_033519.1:n.837C>A, NW_025791769.1:g.66408G>A, NW_025791769.1:g.66408G>T, XM_011512989.3:c.700C>T, XM_011512989.3:c.700C>A, XM_011512989.2:c.700C>T, XM_011512989.2:c.700C>A, XM_011512989.1:c.700C>T, XM_011512989.1:c.700C>A, XM_011512990.3:c.700C>T, XM_011512990.3:c.700C>A, XM_011512990.2:c.700C>T, XM_011512990.2:c.700C>A, XM_011512990.1:c.700C>T, XM_011512990.1:c.700C>A, XM_011512991.3:c.700C>T, XM_011512991.3:c.700C>A, XM_011512991.2:c.700C>T, XM_011512991.2:c.700C>A, XM_011512991.1:c.700C>T, XM_011512991.1:c.700C>A, XM_017006871.2:c.700C>T, XM_017006871.2:c.700C>A, XM_017006871.1:c.700C>T, XM_017006871.1:c.700C>A, XM_017006872.2:c.340C>T, XM_017006872.2:c.340C>A, XM_017006872.1:c.340C>T, XM_017006872.1:c.340C>A, XM_017006869.2:c.601C>T, XM_017006869.2:c.601C>A, XM_017006869.1:c.601C>T, XM_017006869.1:c.601C>A, XM_047448584.1:c.679C>T, XM_047448584.1:c.679C>A, NP_001870.3:p.Gln227Ter, NP_001870.3:p.Gln227Lys, NP_624302.1:p.Gln227Ter, NP_624302.1:p.Gln227Lys, NP_001027019.1:p.Gln227Ter, NP_001027019.1:p.Gln227Lys, XP_011511291.1:p.Gln234Ter, XP_011511291.1:p.Gln234Lys, XP_011511292.1:p.Gln234Ter, XP_011511292.1:p.Gln234Lys, XP_011511293.1:p.Gln234Ter, XP_011511293.1:p.Gln234Lys, XP_016862360.1:p.Gln234Ter, XP_016862360.1:p.Gln234Lys, XP_016862361.1:p.Gln114Ter, XP_016862361.1:p.Gln114Lys, XP_016862358.1:p.Gln201Ter, XP_016862358.1:p.Gln201Lys, XP_047304540.1:p.Gln227Ter, XP_047304540.1:p.Gln227Lys

Select item 143737670118.

rs1437376701 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:187250329 (GRCh38)
3:186968117 (GRCh37)
Canonical SPDI:: NC_000003.12:187250328:C:A
Gene:: MASP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.187250329C>A, NC_000003.11:g.186968117C>A, NG_029440.1:g.46694G>T, NM_001879.6:c.1012G>T, NM_001879.5:c.1012G>T, NM_139125.4:c.1012G>T, NM_139125.3:c.1012G>T, NM_001031849.3:c.1012G>T, NM_001031849.2:c.1012G>T, NR_033519.2:n.885G>T, NR_033519.1:n.1170G>T, NW_025791769.1:g.60008C>A, XM_011512989.3:c.1033G>T, XM_011512989.2:c.1033G>T, XM_011512989.1:c.1033G>T, XM_011512990.3:c.1033G>T, XM_011512990.2:c.1033G>T, XM_011512990.1:c.1033G>T, XM_011512991.3:c.1033G>T, XM_011512991.2:c.1033G>T, XM_011512991.1:c.1033G>T, XM_017006871.2:c.1033G>T, XM_017006871.1:c.1033G>T, XM_017006872.2:c.673G>T, XM_017006872.1:c.673G>T, XM_017006869.2:c.934G>T, XM_017006869.1:c.934G>T, XM_047448584.1:c.1012G>T, NP_001870.3:p.Asp338Tyr, NP_624302.1:p.Asp338Tyr, NP_001027019.1:p.Asp338Tyr, XP_011511291.1:p.Asp345Tyr, XP_011511292.1:p.Asp345Tyr, XP_011511293.1:p.Asp345Tyr, XP_016862360.1:p.Asp345Tyr, XP_016862361.1:p.Asp225Tyr, XP_016862358.1:p.Asp312Tyr, XP_047304540.1:p.Asp338Tyr

Select item 143713046119.

rs1437130461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:187285987 (GRCh38)
3:187003775 (GRCh37)
Canonical SPDI:: NC_000003.12:187285986:G:A
Gene:: MASP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000003.12:g.187285987G>A, NC_000003.11:g.187003775G>A, NG_051120.2:g.248G>A, NW_025791769.1:g.95666G>A, NG_029440.1:g.11036C>T, NM_001879.6:c.75C>T, NM_001879.5:c.75C>T, NM_139125.4:c.75C>T, NM_139125.3:c.75C>T, NM_001031849.3:c.75C>T, NM_001031849.2:c.75C>T, XM_011512990.3:c.96C>T, XM_011512990.2:c.96C>T, XM_011512990.1:c.96C>T, XM_011512989.3:c.96C>T, XM_011512989.2:c.96C>T, XM_011512989.1:c.96C>T, XM_011512991.3:c.96C>T, XM_011512991.2:c.96C>T, XM_011512991.1:c.96C>T, XM_017006871.2:c.96C>T, XM_017006871.1:c.96C>T, XM_017006869.2:c.-4C>T, XM_017006869.1:c.-4C>T, XM_047448584.1:c.75C>T

Select item 143220513720.

rs1432205137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:187262667 (GRCh38)
3:186980455 (GRCh37)
Canonical SPDI:: NC_000003.12:187262666:G:C
Gene:: MASP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.187262667G>C, NC_000003.11:g.186980455G>C, NG_029440.1:g.34356C>G, NM_001879.6:c.291C>G, NM_001879.5:c.291C>G, NM_139125.4:c.291C>G, NM_139125.3:c.291C>G, NM_001031849.3:c.291C>G, NM_001031849.2:c.291C>G, NR_033519.2:n.164C>G, NR_033519.1:n.449C>G, NW_025791769.1:g.72346G>C, XM_011512989.3:c.312C>G, XM_011512989.2:c.312C>G, XM_011512989.1:c.312C>G, XM_011512990.3:c.312C>G, XM_011512990.2:c.312C>G, XM_011512990.1:c.312C>G, XM_011512991.3:c.312C>G, XM_011512991.2:c.312C>G, XM_011512991.1:c.312C>G, XM_017006871.2:c.312C>G, XM_017006871.1:c.312C>G, XM_017006872.2:c.-49C>G, XM_017006872.1:c.-49C>G, XM_017006869.2:c.213C>G, XM_017006869.1:c.213C>G, XM_047448584.1:c.291C>G, NP_001870.3:p.Asp97Glu, NP_624302.1:p.Asp97Glu, NP_001027019.1:p.Asp97Glu, XP_011511291.1:p.Asp104Glu, XP_011511292.1:p.Asp104Glu, XP_011511293.1:p.Asp104Glu, XP_016862360.1:p.Asp104Glu, XP_016862358.1:p.Asp71Glu, XP_047304540.1:p.Asp97Glu

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