SNP Links for Protein (Select 768012191) - SNP

Select item 14895532841.

rs1489553284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50517585 (GRCh38)
19:51020842 (GRCh37)
Canonical SPDI:: NC_000019.10:50517584:C:T
Gene:: LRRC4B (Varview), LOC124904747 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.50517585C>T, NC_000019.9:g.51020842C>T, XM_005259429.6:c.2128G>A, XM_005259429.5:c.2128G>A, XM_005259429.4:c.2128G>A, XM_005259429.3:c.2128G>A, XM_005259429.2:c.2128G>A, XM_005259429.1:c.2128G>A, XM_011527520.4:c.2128G>A, XM_011527520.3:c.2128G>A, XM_011527520.2:c.2128G>A, XM_011527520.1:c.2128G>A, XM_006723506.4:c.2128G>A, XM_006723506.3:c.2128G>A, XM_006723506.2:c.2128G>A, XM_006723506.1:c.2128G>A, NM_001080457.2:c.2128G>A, NM_001080457.1:c.2128G>A, XM_047439720.1:c.2128G>A, NM_001348568.1:c.2128G>A, XM_047439721.1:c.1483G>A, XP_005259486.1:p.Glu710Lys, XP_011525822.1:p.Glu710Lys, XP_006723569.1:p.Glu710Lys, NP_001073926.1:p.Glu710Lys, XP_047295676.1:p.Glu710Lys, NP_001335497.1:p.Glu710Lys, XP_047295677.1:p.Glu495Lys

Select item 14883822802.

rs1488382280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50518212 (GRCh38)
19:51021469 (GRCh37)
Canonical SPDI:: NC_000019.10:50518211:C:T
Gene:: LRRC4B (Varview), LOC124904747 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.50518212C>T, NC_000019.9:g.51021469C>T, XM_005259429.6:c.1501G>A, XM_005259429.5:c.1501G>A, XM_005259429.4:c.1501G>A, XM_005259429.3:c.1501G>A, XM_005259429.2:c.1501G>A, XM_005259429.1:c.1501G>A, XM_011527520.4:c.1501G>A, XM_011527520.3:c.1501G>A, XM_011527520.2:c.1501G>A, XM_011527520.1:c.1501G>A, XM_006723506.4:c.1501G>A, XM_006723506.3:c.1501G>A, XM_006723506.2:c.1501G>A, XM_006723506.1:c.1501G>A, NM_001080457.2:c.1501G>A, NM_001080457.1:c.1501G>A, XM_047439720.1:c.1501G>A, NM_001348568.1:c.1501G>A, XM_047439721.1:c.856G>A, XP_005259486.1:p.Glu501Lys, XP_011525822.1:p.Glu501Lys, XP_006723569.1:p.Glu501Lys, NP_001073926.1:p.Glu501Lys, XP_047295676.1:p.Glu501Lys, NP_001335497.1:p.Glu501Lys, XP_047295677.1:p.Glu286Lys

Select item 14880518573.

rs1488051857 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:50517887 (GRCh38)
19:51021144 (GRCh37)
Canonical SPDI:: NC_000019.10:50517886:T:C
Gene:: LRRC4B (Varview), LOC124904747 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.50517887T>C, NC_000019.9:g.51021144T>C, XM_005259429.6:c.1826A>G, XM_005259429.5:c.1826A>G, XM_005259429.4:c.1826A>G, XM_005259429.3:c.1826A>G, XM_005259429.2:c.1826A>G, XM_005259429.1:c.1826A>G, XM_011527520.4:c.1826A>G, XM_011527520.3:c.1826A>G, XM_011527520.2:c.1826A>G, XM_011527520.1:c.1826A>G, XM_006723506.4:c.1826A>G, XM_006723506.3:c.1826A>G, XM_006723506.2:c.1826A>G, XM_006723506.1:c.1826A>G, NM_001080457.2:c.1826A>G, NM_001080457.1:c.1826A>G, XM_047439720.1:c.1826A>G, NM_001348568.1:c.1826A>G, XM_047439721.1:c.1181A>G, XP_005259486.1:p.His609Arg, XP_011525822.1:p.His609Arg, XP_006723569.1:p.His609Arg, NP_001073926.1:p.His609Arg, XP_047295676.1:p.His609Arg, NP_001335497.1:p.His609Arg, XP_047295677.1:p.His394Arg

Select item 14874170354.

rs1487417035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:50517680 (GRCh38)
19:51020937 (GRCh37)
Canonical SPDI:: NC_000019.10:50517679:G:C
Gene:: LRRC4B (Varview), LOC124904747 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.50517680G>C, NC_000019.9:g.51020937G>C, XM_005259429.6:c.2033C>G, XM_005259429.5:c.2033C>G, XM_005259429.4:c.2033C>G, XM_005259429.3:c.2033C>G, XM_005259429.2:c.2033C>G, XM_005259429.1:c.2033C>G, XM_011527520.4:c.2033C>G, XM_011527520.3:c.2033C>G, XM_011527520.2:c.2033C>G, XM_011527520.1:c.2033C>G, XM_006723506.4:c.2033C>G, XM_006723506.3:c.2033C>G, XM_006723506.2:c.2033C>G, XM_006723506.1:c.2033C>G, NM_001080457.2:c.2033C>G, NM_001080457.1:c.2033C>G, XM_047439720.1:c.2033C>G, NM_001348568.1:c.2033C>G, XM_047439721.1:c.1388C>G, XP_005259486.1:p.Pro678Arg, XP_011525822.1:p.Pro678Arg, XP_006723569.1:p.Pro678Arg, NP_001073926.1:p.Pro678Arg, XP_047295676.1:p.Pro678Arg, NP_001335497.1:p.Pro678Arg, XP_047295677.1:p.Pro463Arg

Select item 14867505035.

rs1486750503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:50519389 (GRCh38)
19:51022646 (GRCh37)
Canonical SPDI:: NC_000019.10:50519388:G:A,NC_000019.10:50519388:G:T
Gene:: LRRC4B (Varview), LOC124904747 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.50519389G>A, NC_000019.10:g.50519389G>T, NC_000019.9:g.51022646G>A, NC_000019.9:g.51022646G>T, XM_005259429.6:c.324C>T, XM_005259429.6:c.324C>A, XM_005259429.5:c.324C>T, XM_005259429.5:c.324C>A, XM_005259429.4:c.324C>T, XM_005259429.4:c.324C>A, XM_005259429.3:c.324C>T, XM_005259429.3:c.324C>A, XM_005259429.2:c.324C>T, XM_005259429.2:c.324C>A, XM_005259429.1:c.324C>T, XM_005259429.1:c.324C>A, XM_011527520.4:c.324C>T, XM_011527520.4:c.324C>A, XM_011527520.3:c.324C>T, XM_011527520.3:c.324C>A, XM_011527520.2:c.324C>T, XM_011527520.2:c.324C>A, XM_011527520.1:c.324C>T, XM_011527520.1:c.324C>A, XM_006723506.4:c.324C>T, XM_006723506.4:c.324C>A, XM_006723506.3:c.324C>T, XM_006723506.3:c.324C>A, XM_006723506.2:c.324C>T, XM_006723506.2:c.324C>A, XM_006723506.1:c.324C>T, XM_006723506.1:c.324C>A, NM_001080457.2:c.324C>T, NM_001080457.2:c.324C>A, NM_001080457.1:c.324C>T, NM_001080457.1:c.324C>A, XM_047439720.1:c.324C>T, XM_047439720.1:c.324C>A, NM_001348568.1:c.324C>T, NM_001348568.1:c.324C>A, XM_047439721.1:c.-322C>T, XM_047439721.1:c.-322C>A, XP_005259486.1:p.His108Gln, XP_011525822.1:p.His108Gln, XP_006723569.1:p.His108Gln, NP_001073926.1:p.His108Gln, XP_047295676.1:p.His108Gln, NP_001335497.1:p.His108Gln

Select item 14857339806.

rs1485733980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:50517901 (GRCh38)
19:51021158 (GRCh37)
Canonical SPDI:: NC_000019.10:50517900:C:G
Gene:: LRRC4B (Varview), LOC124904747 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.50517901C>G, NC_000019.9:g.51021158C>G, XM_005259429.6:c.1812G>C, XM_005259429.5:c.1812G>C, XM_005259429.4:c.1812G>C, XM_005259429.3:c.1812G>C, XM_005259429.2:c.1812G>C, XM_005259429.1:c.1812G>C, XM_011527520.4:c.1812G>C, XM_011527520.3:c.1812G>C, XM_011527520.2:c.1812G>C, XM_011527520.1:c.1812G>C, XM_006723506.4:c.1812G>C, XM_006723506.3:c.1812G>C, XM_006723506.2:c.1812G>C, XM_006723506.1:c.1812G>C, NM_001080457.2:c.1812G>C, NM_001080457.1:c.1812G>C, XM_047439720.1:c.1812G>C, NM_001348568.1:c.1812G>C, XM_047439721.1:c.1167G>C, XP_005259486.1:p.Gln604His, XP_011525822.1:p.Gln604His, XP_006723569.1:p.Gln604His, NP_001073926.1:p.Gln604His, XP_047295676.1:p.Gln604His, NP_001335497.1:p.Gln604His, XP_047295677.1:p.Gln389His

Select item 14842609207.

rs1484260920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:50518387 (GRCh38)
19:51021644 (GRCh37)
Canonical SPDI:: NC_000019.10:50518386:G:A
Gene:: LRRC4B (Varview), LOC124904747 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.50518387G>A, NC_000019.9:g.51021644G>A, XM_005259429.6:c.1326C>T, XM_005259429.5:c.1326C>T, XM_005259429.4:c.1326C>T, XM_005259429.3:c.1326C>T, XM_005259429.2:c.1326C>T, XM_005259429.1:c.1326C>T, XM_011527520.4:c.1326C>T, XM_011527520.3:c.1326C>T, XM_011527520.2:c.1326C>T, XM_011527520.1:c.1326C>T, XM_006723506.4:c.1326C>T, XM_006723506.3:c.1326C>T, XM_006723506.2:c.1326C>T, XM_006723506.1:c.1326C>T, NM_001080457.2:c.1326C>T, NM_001080457.1:c.1326C>T, XM_047439720.1:c.1326C>T, NM_001348568.1:c.1326C>T, XM_047439721.1:c.681C>T

Select item 14818428168.

rs1481842816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:50548644 (GRCh38)
19:51051901 (GRCh37)
Canonical SPDI:: NC_000019.10:50548643:G:A
Gene:: LRRC4B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.50548644G>A, NC_000019.9:g.51051901G>A, XM_005259429.6:c.195C>T, XM_005259429.5:c.195C>T, XM_005259429.4:c.195C>T, XM_005259429.3:c.195C>T, XM_005259429.2:c.195C>T, XM_005259429.1:c.195C>T, XM_011527520.4:c.195C>T, XM_011527520.3:c.195C>T, XM_011527520.2:c.195C>T, XM_011527520.1:c.195C>T, XM_006723506.4:c.195C>T, XM_006723506.3:c.195C>T, XM_006723506.2:c.195C>T, XM_006723506.1:c.195C>T, NM_001080457.2:c.195C>T, NM_001080457.1:c.195C>T, XM_047439720.1:c.195C>T, NM_001348568.1:c.195C>T

Select item 14780617189.

rs1478061718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:50518167 (GRCh38)
19:51021424 (GRCh37)
Canonical SPDI:: NC_000019.10:50518166:G:T
Gene:: LRRC4B (Varview), LOC124904747 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.50518167G>T, NC_000019.9:g.51021424G>T, XM_005259429.6:c.1546C>A, XM_005259429.5:c.1546C>A, XM_005259429.4:c.1546C>A, XM_005259429.3:c.1546C>A, XM_005259429.2:c.1546C>A, XM_005259429.1:c.1546C>A, XM_011527520.4:c.1546C>A, XM_011527520.3:c.1546C>A, XM_011527520.2:c.1546C>A, XM_011527520.1:c.1546C>A, XM_006723506.4:c.1546C>A, XM_006723506.3:c.1546C>A, XM_006723506.2:c.1546C>A, XM_006723506.1:c.1546C>A, NM_001080457.2:c.1546C>A, NM_001080457.1:c.1546C>A, XM_047439720.1:c.1546C>A, NM_001348568.1:c.1546C>A, XM_047439721.1:c.901C>A, XP_005259486.1:p.Pro516Thr, XP_011525822.1:p.Pro516Thr, XP_006723569.1:p.Pro516Thr, NP_001073926.1:p.Pro516Thr, XP_047295676.1:p.Pro516Thr, NP_001335497.1:p.Pro516Thr, XP_047295677.1:p.Pro301Thr

Select item 147723965310.

rs1477239653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50518128 (GRCh38)
19:51021385 (GRCh37)
Canonical SPDI:: NC_000019.10:50518127:C:T
Gene:: LRRC4B (Varview), LOC124904747 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.50518128C>T, NC_000019.9:g.51021385C>T, XM_005259429.6:c.1585G>A, XM_005259429.5:c.1585G>A, XM_005259429.4:c.1585G>A, XM_005259429.3:c.1585G>A, XM_005259429.2:c.1585G>A, XM_005259429.1:c.1585G>A, XM_011527520.4:c.1585G>A, XM_011527520.3:c.1585G>A, XM_011527520.2:c.1585G>A, XM_011527520.1:c.1585G>A, XM_006723506.4:c.1585G>A, XM_006723506.3:c.1585G>A, XM_006723506.2:c.1585G>A, XM_006723506.1:c.1585G>A, NM_001080457.2:c.1585G>A, NM_001080457.1:c.1585G>A, XM_047439720.1:c.1585G>A, NM_001348568.1:c.1585G>A, XM_047439721.1:c.940G>A, XP_005259486.1:p.Asp529Asn, XP_011525822.1:p.Asp529Asn, XP_006723569.1:p.Asp529Asn, NP_001073926.1:p.Asp529Asn, XP_047295676.1:p.Asp529Asn, NP_001335497.1:p.Asp529Asn, XP_047295677.1:p.Asp314Asn

Select item 147643951011.

rs1476439510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:50548674 (GRCh38)
19:51051931 (GRCh37)
Canonical SPDI:: NC_000019.10:50548673:G:A
Gene:: LRRC4B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.50548674G>A, NC_000019.9:g.51051931G>A, XM_005259429.6:c.165C>T, XM_005259429.5:c.165C>T, XM_005259429.4:c.165C>T, XM_005259429.3:c.165C>T, XM_005259429.2:c.165C>T, XM_005259429.1:c.165C>T, XM_011527520.4:c.165C>T, XM_011527520.3:c.165C>T, XM_011527520.2:c.165C>T, XM_011527520.1:c.165C>T, XM_006723506.4:c.165C>T, XM_006723506.3:c.165C>T, XM_006723506.2:c.165C>T, XM_006723506.1:c.165C>T, NM_001080457.2:c.165C>T, NM_001080457.1:c.165C>T, XM_047439720.1:c.165C>T, NM_001348568.1:c.165C>T

Select item 147639489912.

rs1476394899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50519299 (GRCh38)
19:51022556 (GRCh37)
Canonical SPDI:: NC_000019.10:50519298:C:T
Gene:: LRRC4B (Varview), LOC124904747 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.50519299C>T, NC_000019.9:g.51022556C>T, XM_005259429.6:c.414G>A, XM_005259429.5:c.414G>A, XM_005259429.4:c.414G>A, XM_005259429.3:c.414G>A, XM_005259429.2:c.414G>A, XM_005259429.1:c.414G>A, XM_011527520.4:c.414G>A, XM_011527520.3:c.414G>A, XM_011527520.2:c.414G>A, XM_011527520.1:c.414G>A, XM_006723506.4:c.414G>A, XM_006723506.3:c.414G>A, XM_006723506.2:c.414G>A, XM_006723506.1:c.414G>A, NM_001080457.2:c.414G>A, NM_001080457.1:c.414G>A, XM_047439720.1:c.414G>A, NM_001348568.1:c.414G>A, XM_047439721.1:c.-232G>A

Select item 147431507113.

rs1474315071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:50517774 (GRCh38)
19:51021031 (GRCh37)
Canonical SPDI:: NC_000019.10:50517773:C:A
Gene:: LRRC4B (Varview), LOC124904747 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000019/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.50517774C>A, NC_000019.9:g.51021031C>A, XM_005259429.6:c.1939G>T, XM_005259429.5:c.1939G>T, XM_005259429.4:c.1939G>T, XM_005259429.3:c.1939G>T, XM_005259429.2:c.1939G>T, XM_005259429.1:c.1939G>T, XM_011527520.4:c.1939G>T, XM_011527520.3:c.1939G>T, XM_011527520.2:c.1939G>T, XM_011527520.1:c.1939G>T, XM_006723506.4:c.1939G>T, XM_006723506.3:c.1939G>T, XM_006723506.2:c.1939G>T, XM_006723506.1:c.1939G>T, NM_001080457.2:c.1939G>T, NM_001080457.1:c.1939G>T, XM_047439720.1:c.1939G>T, NM_001348568.1:c.1939G>T, XM_047439721.1:c.1294G>T, XP_005259486.1:p.Asp647Tyr, XP_011525822.1:p.Asp647Tyr, XP_006723569.1:p.Asp647Tyr, NP_001073926.1:p.Asp647Tyr, XP_047295676.1:p.Asp647Tyr, NP_001335497.1:p.Asp647Tyr, XP_047295677.1:p.Asp432Tyr

Select item 147384840714.

rs1473848407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:50517760 (GRCh38)
19:51021017 (GRCh37)
Canonical SPDI:: NC_000019.10:50517759:G:A
Gene:: LRRC4B (Varview), LOC124904747 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.50517760G>A, NC_000019.9:g.51021017G>A, XM_005259429.6:c.1953C>T, XM_005259429.5:c.1953C>T, XM_005259429.4:c.1953C>T, XM_005259429.3:c.1953C>T, XM_005259429.2:c.1953C>T, XM_005259429.1:c.1953C>T, XM_011527520.4:c.1953C>T, XM_011527520.3:c.1953C>T, XM_011527520.2:c.1953C>T, XM_011527520.1:c.1953C>T, XM_006723506.4:c.1953C>T, XM_006723506.3:c.1953C>T, XM_006723506.2:c.1953C>T, XM_006723506.1:c.1953C>T, NM_001080457.2:c.1953C>T, NM_001080457.1:c.1953C>T, XM_047439720.1:c.1953C>T, NM_001348568.1:c.1953C>T, XM_047439721.1:c.1308C>T

Select item 147149232415.

rs1471492324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:50548598 (GRCh38)
19:51051855 (GRCh37)
Canonical SPDI:: NC_000019.10:50548597:G:A
Gene:: LRRC4B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.50548598G>A, NC_000019.9:g.51051855G>A, XM_005259429.6:c.241C>T, XM_005259429.5:c.241C>T, XM_005259429.4:c.241C>T, XM_005259429.3:c.241C>T, XM_005259429.2:c.241C>T, XM_005259429.1:c.241C>T, XM_011527520.4:c.241C>T, XM_011527520.3:c.241C>T, XM_011527520.2:c.241C>T, XM_011527520.1:c.241C>T, XM_006723506.4:c.241C>T, XM_006723506.3:c.241C>T, XM_006723506.2:c.241C>T, XM_006723506.1:c.241C>T, NM_001080457.2:c.241C>T, NM_001080457.1:c.241C>T, XM_047439720.1:c.241C>T, NM_001348568.1:c.241C>T, XP_005259486.1:p.Pro81Ser, XP_011525822.1:p.Pro81Ser, XP_006723569.1:p.Pro81Ser, NP_001073926.1:p.Pro81Ser, XP_047295676.1:p.Pro81Ser, NP_001335497.1:p.Pro81Ser

Select item 147059020816.

rs1470590208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:50518334 (GRCh38)
19:51021591 (GRCh37)
Canonical SPDI:: NC_000019.10:50518333:G:A
Gene:: LRRC4B (Varview), LOC124904747 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.50518334G>A, NC_000019.9:g.51021591G>A, XM_005259429.6:c.1379C>T, XM_005259429.5:c.1379C>T, XM_005259429.4:c.1379C>T, XM_005259429.3:c.1379C>T, XM_005259429.2:c.1379C>T, XM_005259429.1:c.1379C>T, XM_011527520.4:c.1379C>T, XM_011527520.3:c.1379C>T, XM_011527520.2:c.1379C>T, XM_011527520.1:c.1379C>T, XM_006723506.4:c.1379C>T, XM_006723506.3:c.1379C>T, XM_006723506.2:c.1379C>T, XM_006723506.1:c.1379C>T, NM_001080457.2:c.1379C>T, NM_001080457.1:c.1379C>T, XM_047439720.1:c.1379C>T, NM_001348568.1:c.1379C>T, XM_047439721.1:c.734C>T, XP_005259486.1:p.Ala460Val, XP_011525822.1:p.Ala460Val, XP_006723569.1:p.Ala460Val, NP_001073926.1:p.Ala460Val, XP_047295676.1:p.Ala460Val, NP_001335497.1:p.Ala460Val, XP_047295677.1:p.Ala245Val

Select item 146998216317.

rs1469982163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50518170 (GRCh38)
19:51021427 (GRCh37)
Canonical SPDI:: NC_000019.10:50518169:C:T
Gene:: LRRC4B (Varview), LOC124904747 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.50518170C>T, NC_000019.9:g.51021427C>T, XM_005259429.6:c.1543G>A, XM_005259429.5:c.1543G>A, XM_005259429.4:c.1543G>A, XM_005259429.3:c.1543G>A, XM_005259429.2:c.1543G>A, XM_005259429.1:c.1543G>A, XM_011527520.4:c.1543G>A, XM_011527520.3:c.1543G>A, XM_011527520.2:c.1543G>A, XM_011527520.1:c.1543G>A, XM_006723506.4:c.1543G>A, XM_006723506.3:c.1543G>A, XM_006723506.2:c.1543G>A, XM_006723506.1:c.1543G>A, NM_001080457.2:c.1543G>A, NM_001080457.1:c.1543G>A, XM_047439720.1:c.1543G>A, NM_001348568.1:c.1543G>A, XM_047439721.1:c.898G>A, XP_005259486.1:p.Gly515Arg, XP_011525822.1:p.Gly515Arg, XP_006723569.1:p.Gly515Arg, NP_001073926.1:p.Gly515Arg, XP_047295676.1:p.Gly515Arg, NP_001335497.1:p.Gly515Arg, XP_047295677.1:p.Gly300Arg

Select item 146962607718.

rs1469626077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50519132 (GRCh38)
19:51022389 (GRCh37)
Canonical SPDI:: NC_000019.10:50519131:C:T
Gene:: LRRC4B (Varview), LOC124904747 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000048/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.50519132C>T, NC_000019.9:g.51022389C>T, XM_005259429.6:c.581G>A, XM_005259429.5:c.581G>A, XM_005259429.4:c.581G>A, XM_005259429.3:c.581G>A, XM_005259429.2:c.581G>A, XM_005259429.1:c.581G>A, XM_011527520.4:c.581G>A, XM_011527520.3:c.581G>A, XM_011527520.2:c.581G>A, XM_011527520.1:c.581G>A, XM_006723506.4:c.581G>A, XM_006723506.3:c.581G>A, XM_006723506.2:c.581G>A, XM_006723506.1:c.581G>A, NM_001080457.2:c.581G>A, NM_001080457.1:c.581G>A, XM_047439720.1:c.581G>A, NM_001348568.1:c.581G>A, XM_047439721.1:c.-65G>A, XP_005259486.1:p.Arg194Gln, XP_011525822.1:p.Arg194Gln, XP_006723569.1:p.Arg194Gln, NP_001073926.1:p.Arg194Gln, XP_047295676.1:p.Arg194Gln, NP_001335497.1:p.Arg194Gln

Select item 146587015419.

rs1465870154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50548733 (GRCh38)
19:51051990 (GRCh37)
Canonical SPDI:: NC_000019.10:50548732:C:T
Gene:: LRRC4B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000019.10:g.50548733C>T, NC_000019.9:g.51051990C>T, XM_005259429.6:c.106G>A, XM_005259429.5:c.106G>A, XM_005259429.4:c.106G>A, XM_005259429.3:c.106G>A, XM_005259429.2:c.106G>A, XM_005259429.1:c.106G>A, XM_011527520.4:c.106G>A, XM_011527520.3:c.106G>A, XM_011527520.2:c.106G>A, XM_011527520.1:c.106G>A, XM_006723506.4:c.106G>A, XM_006723506.3:c.106G>A, XM_006723506.2:c.106G>A, XM_006723506.1:c.106G>A, NM_001080457.2:c.106G>A, NM_001080457.1:c.106G>A, XM_047439720.1:c.106G>A, NM_001348568.1:c.106G>A, XP_005259486.1:p.Ala36Thr, XP_011525822.1:p.Ala36Thr, XP_006723569.1:p.Ala36Thr, NP_001073926.1:p.Ala36Thr, XP_047295676.1:p.Ala36Thr, NP_001335497.1:p.Ala36Thr

Select item 146330517920.

rs1463305179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:50548576 (GRCh38)
19:51051833 (GRCh37)
Canonical SPDI:: NC_000019.10:50548575:G:A
Gene:: LRRC4B (Varview)
Functional Consequence:: missense_variant,coding_sequence_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)
HGVS:: NC_000019.10:g.50548576G>A, NC_000019.9:g.51051833G>A, XM_005259429.6:c.263C>T, XM_005259429.5:c.263C>T, XM_005259429.4:c.263C>T, XM_005259429.3:c.263C>T, XM_005259429.2:c.263C>T, XM_005259429.1:c.263C>T, XM_011527520.4:c.263C>T, XM_011527520.3:c.263C>T, XM_011527520.2:c.263C>T, XM_011527520.1:c.263C>T, XM_006723506.4:c.263C>T, XM_006723506.3:c.263C>T, XM_006723506.2:c.263C>T, XM_006723506.1:c.263C>T, NM_001080457.2:c.263C>T, NM_001080457.1:c.263C>T, XM_047439720.1:c.263C>T, NM_001348568.1:c.263C>T, XP_005259486.1:p.Thr88Met, XP_011525822.1:p.Thr88Met, XP_006723569.1:p.Thr88Met, NP_001073926.1:p.Thr88Met, XP_047295676.1:p.Thr88Met, NP_001335497.1:p.Thr88Met

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dbSNP

Result Filters

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Global MAF

Custom range

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Items: 1 to 20 of 670

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