SNP Links for Protein (Select 95113664) - SNP

Links from Protein

Items: 1 to 20 of 428

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Select item 14897941591.

rs1489794159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:53899823 (GRCh38)
6:53764621 (GRCh37)
Canonical SPDI:: NC_000006.12:53899822:G:T
Gene:: LRRC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.53899823G>T, NC_000006.11:g.53764621G>T, NM_018214.5:c.719G>T, NM_018214.4:c.719G>T, XM_011514727.3:c.542G>T, XM_011514727.2:c.542G>T, XM_011514727.1:c.542G>T, XM_017010997.2:c.719G>T, XM_017010997.1:c.719G>T, XR_001743505.2:n.971G>T, XR_001743505.1:n.1288G>T, NM_025168.1:c.*121G>T, XR_007059279.1:n.971G>T, NP_060684.4:p.Ser240Ile, XP_011513029.1:p.Ser181Ile, XP_016866486.1:p.Ser240Ile

Select item 14831410372.

rs1483141037 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGA>- [Show Flanks]
Chromosome:: 6:53920731 (GRCh38)
6:53785529 (GRCh37)
Canonical SPDI:: NC_000006.12:53920727:GGAGGA:GGA
Gene:: LRRC1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GGAGGA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.53920728GGA[1], NC_000006.11:g.53785526GGA[1], NM_018214.5:c.1383GGA[1], NM_018214.4:c.1383GGA[1], XM_011514727.3:c.1206GGA[1], XM_011514727.2:c.1206GGA[1], XM_011514727.1:c.1206GGA[1], NP_060684.4:p.Glu462del, XP_011513029.1:p.Glu403del

Select item 14822466473.

rs1482246647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:53919603 (GRCh38)
6:53784401 (GRCh37)
Canonical SPDI:: NC_000006.12:53919602:C:T
Gene:: LRRC1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.53919603C>T, NC_000006.11:g.53784401C>T, NM_018214.5:c.1212C>T, NM_018214.4:c.1212C>T, XM_011514727.3:c.1035C>T, XM_011514727.2:c.1035C>T, XM_011514727.1:c.1035C>T

Select item 14813160974.

rs1481316097 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:53795269 (GRCh38)
6:53660067 (GRCh37)
Canonical SPDI:: NC_000006.12:53795268:A:C,NC_000006.12:53795268:A:G
Gene:: LRRC1 (Varview), LOC124901333 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.53795269A>C, NC_000006.12:g.53795269A>G, NC_000006.11:g.53660067A>C, NC_000006.11:g.53660067A>G, NM_018214.5:c.13A>C, NM_018214.5:c.13A>G, NM_018214.4:c.13A>C, NM_018214.4:c.13A>G, XM_017010997.2:c.13A>C, XM_017010997.2:c.13A>G, XM_017010997.1:c.13A>C, XM_017010997.1:c.13A>G, XR_001743505.2:n.265A>C, XR_001743505.2:n.265A>G, XR_001743505.1:n.582A>C, XR_001743505.1:n.582A>G, NM_025168.1:c.13A>C, NM_025168.1:c.13A>G, XR_007059279.1:n.265A>C, XR_007059279.1:n.265A>G, NP_060684.4:p.Ile5Leu, NP_060684.4:p.Ile5Val, XP_016866486.1:p.Ile5Leu, XP_016866486.1:p.Ile5Val

Select item 14771831095.

rs1477183109 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:53922789 (GRCh38)
6:53787587 (GRCh37)
Canonical SPDI:: NC_000006.12:53922788:T:G
Gene:: LRRC1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_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_000006.12:g.53922789T>G, NC_000006.11:g.53787587T>G, NM_018214.5:c.1571T>G, NM_018214.4:c.1571T>G, XM_011514727.3:c.1394T>G, XM_011514727.2:c.1394T>G, XM_011514727.1:c.1394T>G, NP_060684.4:p.Val524Gly, XP_011513029.1:p.Val465Gly

Select item 14765161106.

rs1476516110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:53795407 (GRCh38)
6:53660205 (GRCh37)
Canonical SPDI:: NC_000006.12:53795406:C:T
Gene:: LRRC1 (Varview), LOC124901333 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.53795407C>T, NC_000006.11:g.53660205C>T, NM_018214.5:c.151C>T, NM_018214.4:c.151C>T, XM_017010997.2:c.151C>T, XM_017010997.1:c.151C>T, XR_001743505.2:n.403C>T, XR_001743505.1:n.720C>T, NM_025168.1:c.151C>T, XR_007059279.1:n.403C>T

Select item 14763159237.

rs1476315923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:53920656 (GRCh38)
6:53785454 (GRCh37)
Canonical SPDI:: NC_000006.12:53920655:C:T
Gene:: LRRC1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.53920656C>T, NC_000006.11:g.53785454C>T, NM_018214.5:c.1311C>T, NM_018214.4:c.1311C>T, XM_011514727.3:c.1134C>T, XM_011514727.2:c.1134C>T, XM_011514727.1:c.1134C>T

Select item 14746171188.

rs1474617118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:53795333 (GRCh38)
6:53660131 (GRCh37)
Canonical SPDI:: NC_000006.12:53795332:A:G
Gene:: LRRC1 (Varview), LOC124901333 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.53795333A>G, NC_000006.11:g.53660131A>G, NM_018214.5:c.77A>G, NM_018214.4:c.77A>G, XM_017010997.2:c.77A>G, XM_017010997.1:c.77A>G, XR_001743505.2:n.329A>G, XR_001743505.1:n.646A>G, NM_025168.1:c.77A>G, XR_007059279.1:n.329A>G, NP_060684.4:p.Tyr26Cys, XP_016866486.1:p.Tyr26Cys

Select item 14720576929.

rs1472057692 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:53920724 (GRCh38)
6:53785522 (GRCh37)
Canonical SPDI:: NC_000006.12:53920723:T:A
Gene:: LRRC1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.53920724T>A, NC_000006.11:g.53785522T>A, NM_018214.5:c.1379T>A, NM_018214.4:c.1379T>A, XM_011514727.3:c.1202T>A, XM_011514727.2:c.1202T>A, XM_011514727.1:c.1202T>A, NP_060684.4:p.Phe460Tyr, XP_011513029.1:p.Phe401Tyr

Select item 146669180610.

rs1466691806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:53879040 (GRCh38)
6:53743838 (GRCh37)
Canonical SPDI:: NC_000006.12:53879039:G:T
Gene:: LRRC1 (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_000006.12:g.53879040G>T, NC_000006.11:g.53743838G>T, NM_018214.5:c.325G>T, NM_018214.4:c.325G>T, XM_011514727.3:c.148G>T, XM_011514727.2:c.148G>T, XM_011514727.1:c.148G>T, XM_017010997.2:c.325G>T, XM_017010997.1:c.325G>T, XR_001743505.2:n.577G>T, XR_001743505.1:n.894G>T, NM_025168.1:c.325G>T, XR_007059279.1:n.577G>T, NP_060684.4:p.Val109Leu, XP_011513029.1:p.Val50Leu, XP_016866486.1:p.Val109Leu

Select item 146628711311.

rs1466287113 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:53902740 (GRCh38)
6:53767538 (GRCh37)
Canonical SPDI:: NC_000006.12:53902739:A:G
Gene:: LRRC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.53902740A>G, NC_000006.11:g.53767538A>G, NM_018214.5:c.899A>G, NM_018214.4:c.899A>G, XM_011514727.3:c.722A>G, XM_011514727.2:c.722A>G, XM_011514727.1:c.722A>G, XM_017010997.2:c.899A>G, XM_017010997.1:c.899A>G, XR_001743505.2:n.1151A>G, XR_001743505.1:n.1468A>G, NM_025168.1:c.*301A>G, XR_007059279.1:n.1151A>G, NP_060684.4:p.Gln300Arg, XP_011513029.1:p.Gln241Arg, XP_016866486.1:p.Gln300Arg

Select item 146569021512.

rs1465690215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:53904462 (GRCh38)
6:53769260 (GRCh37)
Canonical SPDI:: NC_000006.12:53904461:G:A
Gene:: LRRC1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_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_000006.12:g.53904462G>A, NC_000006.11:g.53769260G>A, NM_018214.5:c.990G>A, NM_018214.4:c.990G>A, XM_011514727.3:c.813G>A, XM_011514727.2:c.813G>A, XM_011514727.1:c.813G>A, XM_017010997.2:c.990G>A, XM_017010997.1:c.990G>A, XR_001743505.2:n.1242G>A, XR_001743505.1:n.1559G>A, NM_025168.1:c.*392G>A, XR_007059279.1:n.1242G>A

Select item 146487518113.

rs1464875181 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:53913901 (GRCh38)
6:53778699 (GRCh37)
Canonical SPDI:: NC_000006.12:53913900:A:G
Gene:: LRRC1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.53913901A>G, NC_000006.11:g.53778699A>G, NM_018214.5:c.1038A>G, NM_018214.4:c.1038A>G, XM_011514727.3:c.861A>G, XM_011514727.2:c.861A>G, XM_011514727.1:c.861A>G, XR_007059279.1:n.1290A>G

Select item 146432591014.

rs1464325910 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 6:53795287 (GRCh38)
6:53660085 (GRCh37)
Canonical SPDI:: NC_000006.12:53795286:AA:A
Gene:: LRRC1 (Varview), LOC124901333 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.53795288del, NC_000006.11:g.53660086del, NM_018214.5:c.32del, NM_018214.4:c.32del, XM_017010997.2:c.32del, XM_017010997.1:c.32del, XR_001743505.2:n.284del, XR_001743505.1:n.601del, NM_025168.1:c.32del, XR_007059279.1:n.284del, NP_060684.4:p.Asn11fs, XP_016866486.1:p.Asn11fs

Select item 146275047115.

rs1462750471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:53842169 (GRCh38)
6:53706967 (GRCh37)
Canonical SPDI:: NC_000006.12:53842168:G:A
Gene:: LRRC1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.53842169G>A, NC_000006.11:g.53706967G>A, NM_018214.5:c.219G>A, NM_018214.4:c.219G>A, XM_017010997.2:c.219G>A, XM_017010997.1:c.219G>A, XR_001743505.2:n.471G>A, XR_001743505.1:n.788G>A, NM_025168.1:c.219G>A, XR_007059279.1:n.471G>A

Select item 146044436216.

rs1460444362 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:53899864 (GRCh38)
6:53764662 (GRCh37)
Canonical SPDI:: NC_000006.12:53899863:T:C
Gene:: LRRC1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.53899864T>C, NC_000006.11:g.53764662T>C, NM_018214.5:c.760T>C, NM_018214.4:c.760T>C, XM_011514727.3:c.583T>C, XM_011514727.2:c.583T>C, XM_011514727.1:c.583T>C, XM_017010997.2:c.760T>C, XM_017010997.1:c.760T>C, XR_001743505.2:n.1012T>C, XR_001743505.1:n.1329T>C, NM_025168.1:c.*162T>C, XR_007059279.1:n.1012T>C

Select item 145216730117.

rs1452167301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:53904380 (GRCh38)
6:53769178 (GRCh37)
Canonical SPDI:: NC_000006.12:53904379:C:A
Gene:: LRRC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.53904380C>A, NC_000006.11:g.53769178C>A, NM_018214.5:c.908C>A, NM_018214.4:c.908C>A, XM_011514727.3:c.731C>A, XM_011514727.2:c.731C>A, XM_011514727.1:c.731C>A, XM_017010997.2:c.908C>A, XM_017010997.1:c.908C>A, XR_001743505.2:n.1160C>A, XR_001743505.1:n.1477C>A, NM_025168.1:c.*310C>A, XR_007059279.1:n.1160C>A, NP_060684.4:p.Thr303Asn, XP_011513029.1:p.Thr244Asn, XP_016866486.1:p.Thr303Asn

Select item 145087415618.

rs1450874156 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:53897304 (GRCh38)
6:53762102 (GRCh37)
Canonical SPDI:: NC_000006.12:53897303:T:A
Gene:: LRRC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.53897304T>A, NC_000006.11:g.53762102T>A, NM_018214.5:c.587T>A, NM_018214.4:c.587T>A, XM_011514727.3:c.410T>A, XM_011514727.2:c.410T>A, XM_011514727.1:c.410T>A, XM_017010997.2:c.587T>A, XM_017010997.1:c.587T>A, XR_001743505.2:n.839T>A, XR_001743505.1:n.1156T>A, NM_025168.1:c.583T>A, XR_007059279.1:n.839T>A, NP_060684.4:p.Leu196His, XP_011513029.1:p.Leu137His, XP_016866486.1:p.Leu196His

Select item 144944180119.

rs1449441801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:53913887 (GRCh38)
6:53778685 (GRCh37)
Canonical SPDI:: NC_000006.12:53913886:G:T
Gene:: LRRC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.53913887G>T, NC_000006.11:g.53778685G>T, NM_018214.5:c.1024G>T, NM_018214.4:c.1024G>T, XM_011514727.3:c.847G>T, XM_011514727.2:c.847G>T, XM_011514727.1:c.847G>T, XR_007059279.1:n.1276G>T, NP_060684.4:p.Val342Leu, XP_011513029.1:p.Val283Leu

Select item 144872481120.

rs1448724811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:53920714 (GRCh38)
6:53785512 (GRCh37)
Canonical SPDI:: NC_000006.12:53920713:G:A
Gene:: LRRC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.53920714G>A, NC_000006.11:g.53785512G>A, NM_018214.5:c.1369G>A, NM_018214.4:c.1369G>A, XM_011514727.3:c.1192G>A, XM_011514727.2:c.1192G>A, XM_011514727.1:c.1192G>A, NP_060684.4:p.Ala457Thr, XP_011513029.1:p.Ala398Thr

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