SNP Links for Protein (Select 229089140) - SNP

Links from Protein

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Select item 14906741691.

rs1490674169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:144524133 (GRCh38)
8:145749517 (GRCh37)
Canonical SPDI:: NC_000008.11:144524132:C:G
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144524133C>G, NC_000008.10:g.145749517C>G, NG_033083.2:g.11143C>G, NG_033083.1:g.11169C>G, NM_014665.4:c.*2655C>G, NM_014665.3:c.*2655C>G, NM_001272036.2:c.*2655C>G, NM_001272036.1:c.*2655C>G, XM_005272359.6:c.*2655C>G, XM_005272359.4:c.*2655C>G, XM_005272359.3:c.*2655C>G, XM_005272358.6:c.*2655C>G, XM_005272358.4:c.*2655C>G, XM_005272358.3:c.*2655C>G, NM_001024678.4:c.584G>C, NM_001024678.3:c.584G>C, XM_017014005.3:c.*2655C>G, XM_017014005.1:c.*2655C>G, XM_024447336.2:c.*2655C>G, XM_024447337.2:c.*2655C>G, XR_007060777.1:n.5281C>G, XR_007060765.1:n.4063C>G, XR_007060768.1:n.3996C>G, XR_007060766.1:n.3977C>G, XR_007060770.1:n.3910C>G, XR_007060773.1:n.3796C>G, NP_001019849.2:p.Ser195Thr

Select item 14901833752.

rs1490183375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:144523260 (GRCh38)
8:145748644 (GRCh37)
Canonical SPDI:: NC_000008.11:144523259:T:G
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
HGVS:: NC_000008.11:g.144523260T>G, NC_000008.10:g.145748644T>G, NG_033083.2:g.10270T>G, NG_033083.1:g.10296T>G, NM_014665.4:c.*1782T>G, NM_014665.3:c.*1782T>G, NM_001272036.2:c.*1782T>G, NM_001272036.1:c.*1782T>G, XM_005272359.6:c.*1782T>G, XM_005272359.4:c.*1782T>G, XM_005272359.3:c.*1782T>G, XM_005272358.6:c.*1782T>G, XM_005272358.4:c.*1782T>G, XM_005272358.3:c.*1782T>G, NM_001024678.4:c.757A>C, NM_001024678.3:c.757A>C, XM_017014005.3:c.*1782T>G, XM_017014005.1:c.*1782T>G, XM_024447336.2:c.*1782T>G, XM_024447337.2:c.*1782T>G, XR_007060777.1:n.4998T>G, XR_007060765.1:n.3492T>G, XR_007060767.1:n.3339T>G, XR_007060768.1:n.3425T>G, XR_007060766.1:n.3406T>G, XR_007060770.1:n.3339T>G, XR_007060771.1:n.3425T>G, XR_007060769.1:n.3406T>G, XR_007060773.1:n.3339T>G, XR_007060772.1:n.3339T>G, XR_007060774.1:n.3425T>G, XR_007060776.1:n.3406T>G, XR_007060775.1:n.3339T>G, NP_001019849.2:p.Ser253Arg

Select item 14896147953.

rs1489614795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:144522748 (GRCh38)
8:145748132 (GRCh37)
Canonical SPDI:: NC_000008.11:144522747:G:T
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.144522748G>T, NC_000008.10:g.145748132G>T, NG_033083.2:g.9758G>T, NG_033083.1:g.9784G>T, NM_014665.4:c.*1270G>T, NM_014665.3:c.*1270G>T, NM_001272036.2:c.*1270G>T, NM_001272036.1:c.*1270G>T, NG_016430.2:g.79C>A, XM_005272359.6:c.*1270G>T, XM_005272359.4:c.*1270G>T, XM_005272359.3:c.*1270G>T, XM_005272358.6:c.*1270G>T, XM_005272358.4:c.*1270G>T, XM_005272358.3:c.*1270G>T, NM_001024678.4:c.1269C>A, NM_001024678.3:c.1269C>A, XM_017014005.3:c.*1270G>T, XM_017014005.1:c.*1270G>T, XM_024447336.2:c.*1270G>T, XM_024447337.2:c.*1270G>T, XR_007060777.1:n.4486G>T, XR_007060765.1:n.2980G>T, XR_007060767.1:n.2827G>T, XR_007060768.1:n.2913G>T, XR_007060766.1:n.2894G>T, XR_007060770.1:n.2827G>T, XR_007060771.1:n.2913G>T, XR_007060769.1:n.2894G>T, XR_007060773.1:n.2827G>T, XR_007060772.1:n.2827G>T, XR_007060774.1:n.2913G>T, XR_007060776.1:n.2894G>T, XR_007060775.1:n.2827G>T

Select item 14889959484.

rs1488995948 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144522611 (GRCh38)
8:145747995 (GRCh37)
Canonical SPDI:: NC_000008.11:144522610:T:C
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.144522611T>C, NC_000008.10:g.145747995T>C, NG_033083.2:g.9621T>C, NG_033083.1:g.9647T>C, NM_014665.4:c.*1133T>C, NM_014665.3:c.*1133T>C, NM_001272036.2:c.*1133T>C, NM_001272036.1:c.*1133T>C, NG_016430.2:g.216A>G, XM_005272359.6:c.*1133T>C, XM_005272359.4:c.*1133T>C, XM_005272359.3:c.*1133T>C, XM_005272358.6:c.*1133T>C, XM_005272358.4:c.*1133T>C, XM_005272358.3:c.*1133T>C, NM_001024678.4:c.1406A>G, NM_001024678.3:c.1406A>G, XM_017014005.3:c.*1133T>C, XM_017014005.1:c.*1133T>C, XM_024447336.2:c.*1133T>C, XM_024447337.2:c.*1133T>C, XR_007060777.1:n.4349T>C, XR_007060765.1:n.2843T>C, XR_007060767.1:n.2690T>C, XR_007060768.1:n.2776T>C, XR_007060766.1:n.2757T>C, XR_007060770.1:n.2690T>C, XR_007060771.1:n.2776T>C, XR_007060769.1:n.2757T>C, XR_007060773.1:n.2690T>C, XR_007060772.1:n.2690T>C, XR_007060774.1:n.2776T>C, XR_007060776.1:n.2757T>C, XR_007060775.1:n.2690T>C, NP_001019849.2:p.Glu469Gly

Select item 14884294625.

rs1488429462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:144523305 (GRCh38)
8:145748689 (GRCh37)
Canonical SPDI:: NC_000008.11:144523304:C:G,NC_000008.11:144523304:C:T
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144523305C>G, NC_000008.11:g.144523305C>T, NC_000008.10:g.145748689C>G, NC_000008.10:g.145748689C>T, NG_033083.2:g.10315C>G, NG_033083.2:g.10315C>T, NG_033083.1:g.10341C>G, NG_033083.1:g.10341C>T, NM_014665.4:c.*1827C>G, NM_014665.4:c.*1827C>T, NM_014665.3:c.*1827C>G, NM_014665.3:c.*1827C>T, NM_001272036.2:c.*1827C>G, NM_001272036.2:c.*1827C>T, NM_001272036.1:c.*1827C>G, NM_001272036.1:c.*1827C>T, XM_005272359.6:c.*1827C>G, XM_005272359.6:c.*1827C>T, XM_005272359.4:c.*1827C>G, XM_005272359.4:c.*1827C>T, XM_005272359.3:c.*1827C>G, XM_005272359.3:c.*1827C>T, XM_005272358.6:c.*1827C>G, XM_005272358.6:c.*1827C>T, XM_005272358.4:c.*1827C>G, XM_005272358.4:c.*1827C>T, XM_005272358.3:c.*1827C>G, XM_005272358.3:c.*1827C>T, NM_001024678.4:c.712G>C, NM_001024678.4:c.712G>A, NM_001024678.3:c.712G>C, NM_001024678.3:c.712G>A, XM_017014005.3:c.*1827C>G, XM_017014005.3:c.*1827C>T, XM_017014005.1:c.*1827C>G, XM_017014005.1:c.*1827C>T, XM_024447336.2:c.*1827C>G, XM_024447336.2:c.*1827C>T, XM_024447337.2:c.*1827C>G, XM_024447337.2:c.*1827C>T, XR_007060777.1:n.5043C>G, XR_007060777.1:n.5043C>T, XR_007060765.1:n.3537C>G, XR_007060765.1:n.3537C>T, XR_007060767.1:n.3384C>G, XR_007060767.1:n.3384C>T, XR_007060768.1:n.3470C>G, XR_007060768.1:n.3470C>T, XR_007060766.1:n.3451C>G, XR_007060766.1:n.3451C>T, XR_007060770.1:n.3384C>G, XR_007060770.1:n.3384C>T, XR_007060771.1:n.3470C>G, XR_007060771.1:n.3470C>T, XR_007060769.1:n.3451C>G, XR_007060769.1:n.3451C>T, XR_007060773.1:n.3384C>G, XR_007060773.1:n.3384C>T, XR_007060772.1:n.3384C>G, XR_007060772.1:n.3384C>T, XR_007060774.1:n.3470C>G, XR_007060774.1:n.3470C>T, XR_007060776.1:n.3451C>G, XR_007060776.1:n.3451C>T, XR_007060775.1:n.3384C>G, XR_007060775.1:n.3384C>T, NP_001019849.2:p.Glu238Gln, NP_001019849.2:p.Glu238Lys

Select item 14884218216.

rs1488421821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144524237 (GRCh38)
8:145749621 (GRCh37)
Canonical SPDI:: NC_000008.11:144524236:C:T
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.144524237C>T, NC_000008.10:g.145749621C>T, NG_033083.2:g.11247C>T, NG_033083.1:g.11273C>T, NM_014665.4:c.*2759C>T, NM_014665.3:c.*2759C>T, NM_001272036.2:c.*2759C>T, NM_001272036.1:c.*2759C>T, XM_005272359.6:c.*2759C>T, XM_005272359.4:c.*2759C>T, XM_005272359.3:c.*2759C>T, XM_005272358.6:c.*2759C>T, XM_005272358.4:c.*2759C>T, XM_005272358.3:c.*2759C>T, NM_001024678.4:c.480G>A, NM_001024678.3:c.480G>A, XM_017014005.3:c.*2759C>T, XM_017014005.1:c.*2759C>T, XM_024447336.2:c.*2759C>T, XM_024447337.2:c.*2759C>T, XR_007060777.1:n.5385C>T, XR_007060765.1:n.4167C>T, XR_007060768.1:n.4100C>T, XR_007060766.1:n.4081C>T, XR_007060770.1:n.4014C>T, XR_007060773.1:n.3900C>T

Select item 14879655147.

rs1487965514 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144522720 (GRCh38)
8:145748104 (GRCh37)
Canonical SPDI:: NC_000008.11:144522719:T:C
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144522720T>C, NC_000008.10:g.145748104T>C, NG_033083.2:g.9730T>C, NG_033083.1:g.9756T>C, NM_014665.4:c.*1242T>C, NM_014665.3:c.*1242T>C, NM_001272036.2:c.*1242T>C, NM_001272036.1:c.*1242T>C, NG_016430.2:g.107A>G, XM_005272359.6:c.*1242T>C, XM_005272359.4:c.*1242T>C, XM_005272359.3:c.*1242T>C, XM_005272358.6:c.*1242T>C, XM_005272358.4:c.*1242T>C, XM_005272358.3:c.*1242T>C, NM_001024678.4:c.1297A>G, NM_001024678.3:c.1297A>G, XM_017014005.3:c.*1242T>C, XM_017014005.1:c.*1242T>C, XM_024447336.2:c.*1242T>C, XM_024447337.2:c.*1242T>C, XR_007060777.1:n.4458T>C, XR_007060765.1:n.2952T>C, XR_007060767.1:n.2799T>C, XR_007060768.1:n.2885T>C, XR_007060766.1:n.2866T>C, XR_007060770.1:n.2799T>C, XR_007060771.1:n.2885T>C, XR_007060769.1:n.2866T>C, XR_007060773.1:n.2799T>C, XR_007060772.1:n.2799T>C, XR_007060774.1:n.2885T>C, XR_007060776.1:n.2866T>C, XR_007060775.1:n.2799T>C, NP_001019849.2:p.Lys433Glu

Select item 14841378348.

rs1484137834 has merged into rs1205522349 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCAGCAGC>-,AGC,AGCAGC,AGCAGCAGCAGC [Show Flanks]
Chromosome:: 8:144524937 (GRCh38)
8:145750321 (GRCh37)
Canonical SPDI:: NC_000008.11:144524933:AGCAGCAGCAGC:AGC,NC_000008.11:144524933:AGCAGCAGCAGC:AGCAGC,NC_000008.11:144524933:AGCAGCAGCAGC:AGCAGCAGC,NC_000008.11:144524933:AGCAGCAGCAGC:AGCAGCAGCAGCAGC
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,inframe_insertion,non_coding_transcript_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AGC=0./0 (ALFA)
AGC=0.00163/27 (TOMMO)
HGVS:: NC_000008.11:g.144524934AGC[1], NC_000008.11:g.144524934AGC[2], NC_000008.11:g.144524934AGC[3], NC_000008.11:g.144524934AGC[5], NC_000008.10:g.145750318AGC[1], NC_000008.10:g.145750318AGC[2], NC_000008.10:g.145750318AGC[3], NC_000008.10:g.145750318AGC[5], NG_033083.2:g.11944AGC[1], NG_033083.2:g.11944AGC[2], NG_033083.2:g.11944AGC[3], NG_033083.2:g.11944AGC[5], NG_033083.1:g.11970AGC[1], NG_033083.1:g.11970AGC[2], NG_033083.1:g.11970AGC[3], NG_033083.1:g.11970AGC[5], NM_014665.4:c.*3456AGC[1], NM_014665.4:c.*3456AGC[2], NM_014665.4:c.*3456AGC[3], NM_014665.4:c.*3456AGC[5], NM_014665.3:c.*3456AGC[1], NM_014665.3:c.*3456AGC[2], NM_014665.3:c.*3456AGC[3], NM_014665.3:c.*3456AGC[5], NM_001272036.2:c.*3456AGC[1], NM_001272036.2:c.*3456AGC[2], NM_001272036.2:c.*3456AGC[3], NM_001272036.2:c.*3456AGC[5], NM_001272036.1:c.*3456AGC[1], NM_001272036.1:c.*3456AGC[2], NM_001272036.1:c.*3456AGC[3], NM_001272036.1:c.*3456AGC[5], XM_005272359.6:c.*3456AGC[1], XM_005272359.6:c.*3456AGC[2], XM_005272359.6:c.*3456AGC[3], XM_005272359.6:c.*3456AGC[5], XM_005272359.4:c.*3456AGC[1], XM_005272359.4:c.*3456AGC[2], XM_005272359.4:c.*3456AGC[3], XM_005272359.4:c.*3456AGC[5], XM_005272359.3:c.*3456AGC[1], XM_005272359.3:c.*3456AGC[2], XM_005272359.3:c.*3456AGC[3], XM_005272359.3:c.*3456AGC[5], XM_005272358.6:c.*3456AGC[1], XM_005272358.6:c.*3456AGC[2], XM_005272358.6:c.*3456AGC[3], XM_005272358.6:c.*3456AGC[5], XM_005272358.4:c.*3456AGC[1], XM_005272358.4:c.*3456AGC[2], XM_005272358.4:c.*3456AGC[3], XM_005272358.4:c.*3456AGC[5], XM_005272358.3:c.*3456AGC[1], XM_005272358.3:c.*3456AGC[2], XM_005272358.3:c.*3456AGC[3], XM_005272358.3:c.*3456AGC[5], NM_001024678.4:c.30GCT[1], NM_001024678.4:c.30GCT[2], NM_001024678.4:c.30GCT[3], NM_001024678.4:c.30GCT[5], NM_001024678.3:c.30GCT[1], NM_001024678.3:c.30GCT[2], NM_001024678.3:c.30GCT[3], NM_001024678.3:c.30GCT[5], XM_017014005.3:c.*3456AGC[1], XM_017014005.3:c.*3456AGC[2], XM_017014005.3:c.*3456AGC[3], XM_017014005.3:c.*3456AGC[5], XM_017014005.1:c.*3456AGC[1], XM_017014005.1:c.*3456AGC[2], XM_017014005.1:c.*3456AGC[3], XM_017014005.1:c.*3456AGC[5], XM_024447336.2:c.*3456AGC[1], XM_024447336.2:c.*3456AGC[2], XM_024447336.2:c.*3456AGC[3], XM_024447336.2:c.*3456AGC[5], XM_024447337.2:c.*3456AGC[1], XM_024447337.2:c.*3456AGC[2], XM_024447337.2:c.*3456AGC[3], XM_024447337.2:c.*3456AGC[5], XR_007060777.1:n.6082AGC[1], XR_007060777.1:n.6082AGC[2], XR_007060777.1:n.6082AGC[3], XR_007060777.1:n.6082AGC[5], XR_007060765.1:n.4864AGC[1], XR_007060765.1:n.4864AGC[2], XR_007060765.1:n.4864AGC[3], XR_007060765.1:n.4864AGC[5], XR_007060767.1:n.4858AGC[1], XR_007060767.1:n.4858AGC[2], XR_007060767.1:n.4858AGC[3], XR_007060767.1:n.4858AGC[5], XR_007060768.1:n.4797AGC[1], XR_007060768.1:n.4797AGC[2], XR_007060768.1:n.4797AGC[3], XR_007060768.1:n.4797AGC[5], XR_007060766.1:n.4778AGC[1], XR_007060766.1:n.4778AGC[2], XR_007060766.1:n.4778AGC[3], XR_007060766.1:n.4778AGC[5], XR_007060770.1:n.4711AGC[1], XR_007060770.1:n.4711AGC[2], XR_007060770.1:n.4711AGC[3], XR_007060770.1:n.4711AGC[5], XR_007060771.1:n.4642AGC[1], XR_007060771.1:n.4642AGC[2], XR_007060771.1:n.4642AGC[3], XR_007060771.1:n.4642AGC[5], XR_007060769.1:n.4623AGC[1], XR_007060769.1:n.4623AGC[2], XR_007060769.1:n.4623AGC[3], XR_007060769.1:n.4623AGC[5], XR_007060773.1:n.4597AGC[1], XR_007060773.1:n.4597AGC[2], XR_007060773.1:n.4597AGC[3], XR_007060773.1:n.4597AGC[5], XR_007060772.1:n.4556AGC[1], XR_007060772.1:n.4556AGC[2], XR_007060772.1:n.4556AGC[3], XR_007060772.1:n.4556AGC[5], XR_007060774.1:n.4528AGC[1], XR_007060774.1:n.4528AGC[2], XR_007060774.1:n.4528AGC[3], XR_007060774.1:n.4528AGC[5], XR_007060776.1:n.4509AGC[1], XR_007060776.1:n.4509AGC[2], XR_007060776.1:n.4509AGC[3], XR_007060776.1:n.4509AGC[5], XR_007060775.1:n.4442AGC[1], XR_007060775.1:n.4442AGC[2], XR_007060775.1:n.4442AGC[3], XR_007060775.1:n.4442AGC[5], NP_001019849.2:p.Leu14_Leu16del, NP_001019849.2:p.Leu15_Leu16del, NP_001019849.2:p.Leu16del, NP_001019849.2:p.Leu16dup

Select item 14841292549.

rs1484129254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:144522883 (GRCh38)
8:145748267 (GRCh37)
Canonical SPDI:: NC_000008.11:144522882:C:G
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.144522883C>G, NC_000008.10:g.145748267C>G, NG_033083.2:g.9893C>G, NG_033083.1:g.9919C>G, NM_014665.4:c.*1405C>G, NM_014665.3:c.*1405C>G, NM_001272036.2:c.*1405C>G, NM_001272036.1:c.*1405C>G, XM_005272359.6:c.*1405C>G, XM_005272359.4:c.*1405C>G, XM_005272359.3:c.*1405C>G, XM_005272358.6:c.*1405C>G, XM_005272358.4:c.*1405C>G, XM_005272358.3:c.*1405C>G, NM_001024678.4:c.1134G>C, NM_001024678.3:c.1134G>C, XM_017014005.3:c.*1405C>G, XM_017014005.1:c.*1405C>G, XM_024447336.2:c.*1405C>G, XM_024447337.2:c.*1405C>G, XR_007060777.1:n.4621C>G, XR_007060765.1:n.3115C>G, XR_007060767.1:n.2962C>G, XR_007060768.1:n.3048C>G, XR_007060766.1:n.3029C>G, XR_007060770.1:n.2962C>G, XR_007060771.1:n.3048C>G, XR_007060769.1:n.3029C>G, XR_007060773.1:n.2962C>G, XR_007060772.1:n.2962C>G, XR_007060774.1:n.3048C>G, XR_007060776.1:n.3029C>G, XR_007060775.1:n.2962C>G

Select item 148305385310.

rs1483053853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:144524665 (GRCh38)
8:145750049 (GRCh37)
Canonical SPDI:: NC_000008.11:144524664:G:T
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.144524665G>T, NC_000008.10:g.145750049G>T, NG_033083.2:g.11675G>T, NG_033083.1:g.11701G>T, NM_014665.4:c.*3187G>T, NM_014665.3:c.*3187G>T, NM_001272036.2:c.*3187G>T, NM_001272036.1:c.*3187G>T, XM_005272359.6:c.*3187G>T, XM_005272359.4:c.*3187G>T, XM_005272359.3:c.*3187G>T, XM_005272358.6:c.*3187G>T, XM_005272358.4:c.*3187G>T, XM_005272358.3:c.*3187G>T, NM_001024678.4:c.214C>A, NM_001024678.3:c.214C>A, XM_017014005.3:c.*3187G>T, XM_017014005.1:c.*3187G>T, XM_024447336.2:c.*3187G>T, XM_024447337.2:c.*3187G>T, XR_007060777.1:n.5813G>T, XR_007060765.1:n.4595G>T, XR_007060767.1:n.4589G>T, XR_007060768.1:n.4528G>T, XR_007060766.1:n.4509G>T, XR_007060770.1:n.4442G>T, XR_007060771.1:n.4373G>T, XR_007060769.1:n.4354G>T, XR_007060773.1:n.4328G>T, XR_007060772.1:n.4287G>T, XR_007060774.1:n.4259G>T, XR_007060776.1:n.4240G>T, XR_007060775.1:n.4173G>T, NP_001019849.2:p.Pro72Thr

Select item 148216428111.

rs1482164281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:144522516 (GRCh38)
8:145747900 (GRCh37)
Canonical SPDI:: NC_000008.11:144522515:G:A,NC_000008.11:144522515:G:C,NC_000008.11:144522515:G:T
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000009/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.144522516G>A, NC_000008.11:g.144522516G>C, NC_000008.11:g.144522516G>T, NC_000008.10:g.145747900G>A, NC_000008.10:g.145747900G>C, NC_000008.10:g.145747900G>T, NG_033083.2:g.9526G>A, NG_033083.2:g.9526G>C, NG_033083.2:g.9526G>T, NG_033083.1:g.9552G>A, NG_033083.1:g.9552G>C, NG_033083.1:g.9552G>T, NM_014665.4:c.*1038G>A, NM_014665.4:c.*1038G>C, NM_014665.4:c.*1038G>T, NM_014665.3:c.*1038G>A, NM_014665.3:c.*1038G>C, NM_014665.3:c.*1038G>T, NM_001272036.2:c.*1038G>A, NM_001272036.2:c.*1038G>C, NM_001272036.2:c.*1038G>T, NM_001272036.1:c.*1038G>A, NM_001272036.1:c.*1038G>C, NM_001272036.1:c.*1038G>T, NG_016430.2:g.311C>T, NG_016430.2:g.311C>G, NG_016430.2:g.311C>A, XM_005272359.6:c.*1038G>A, XM_005272359.6:c.*1038G>C, XM_005272359.6:c.*1038G>T, XM_005272359.4:c.*1038G>A, XM_005272359.4:c.*1038G>C, XM_005272359.4:c.*1038G>T, XM_005272359.3:c.*1038G>A, XM_005272359.3:c.*1038G>C, XM_005272359.3:c.*1038G>T, XM_005272358.6:c.*1038G>A, XM_005272358.6:c.*1038G>C, XM_005272358.6:c.*1038G>T, XM_005272358.4:c.*1038G>A, XM_005272358.4:c.*1038G>C, XM_005272358.4:c.*1038G>T, XM_005272358.3:c.*1038G>A, XM_005272358.3:c.*1038G>C, XM_005272358.3:c.*1038G>T, NM_001024678.4:c.1501C>T, NM_001024678.4:c.1501C>G, NM_001024678.4:c.1501C>A, NM_001024678.3:c.1501C>T, NM_001024678.3:c.1501C>G, NM_001024678.3:c.1501C>A, XM_017014005.3:c.*1038G>A, XM_017014005.3:c.*1038G>C, XM_017014005.3:c.*1038G>T, XM_017014005.1:c.*1038G>A, XM_017014005.1:c.*1038G>C, XM_017014005.1:c.*1038G>T, XM_024447336.2:c.*1038G>A, XM_024447336.2:c.*1038G>C, XM_024447336.2:c.*1038G>T, XM_024447337.2:c.*1038G>A, XM_024447337.2:c.*1038G>C, XM_024447337.2:c.*1038G>T, XR_007060777.1:n.4254G>A, XR_007060777.1:n.4254G>C, XR_007060777.1:n.4254G>T, XR_007060765.1:n.2748G>A, XR_007060765.1:n.2748G>C, XR_007060765.1:n.2748G>T, XR_007060767.1:n.2595G>A, XR_007060767.1:n.2595G>C, XR_007060767.1:n.2595G>T, XR_007060768.1:n.2681G>A, XR_007060768.1:n.2681G>C, XR_007060768.1:n.2681G>T, XR_007060766.1:n.2662G>A, XR_007060766.1:n.2662G>C, XR_007060766.1:n.2662G>T, XR_007060770.1:n.2595G>A, XR_007060770.1:n.2595G>C, XR_007060770.1:n.2595G>T, XR_007060771.1:n.2681G>A, XR_007060771.1:n.2681G>C, XR_007060771.1:n.2681G>T, XR_007060769.1:n.2662G>A, XR_007060769.1:n.2662G>C, XR_007060769.1:n.2662G>T, XR_007060773.1:n.2595G>A, XR_007060773.1:n.2595G>C, XR_007060773.1:n.2595G>T, XR_007060772.1:n.2595G>A, XR_007060772.1:n.2595G>C, XR_007060772.1:n.2595G>T, XR_007060774.1:n.2681G>A, XR_007060774.1:n.2681G>C, XR_007060774.1:n.2681G>T, XR_007060776.1:n.2662G>A, XR_007060776.1:n.2662G>C, XR_007060776.1:n.2662G>T, XR_007060775.1:n.2595G>A, XR_007060775.1:n.2595G>C, XR_007060775.1:n.2595G>T, NP_001019849.2:p.Leu501Phe, NP_001019849.2:p.Leu501Val, NP_001019849.2:p.Leu501Ile

Select item 148111428312.

rs1481114283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144523198 (GRCh38)
8:145748582 (GRCh37)
Canonical SPDI:: NC_000008.11:144523197:C:T
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144523198C>T, NC_000008.10:g.145748582C>T, NG_033083.2:g.10208C>T, NG_033083.1:g.10234C>T, NM_014665.4:c.*1720C>T, NM_014665.3:c.*1720C>T, NM_001272036.2:c.*1720C>T, NM_001272036.1:c.*1720C>T, XM_005272359.6:c.*1720C>T, XM_005272359.4:c.*1720C>T, XM_005272359.3:c.*1720C>T, XM_005272358.6:c.*1720C>T, XM_005272358.4:c.*1720C>T, XM_005272358.3:c.*1720C>T, NM_001024678.4:c.819G>A, NM_001024678.3:c.819G>A, XM_017014005.3:c.*1720C>T, XM_017014005.1:c.*1720C>T, XM_024447336.2:c.*1720C>T, XM_024447337.2:c.*1720C>T, XR_007060777.1:n.4936C>T, XR_007060765.1:n.3430C>T, XR_007060767.1:n.3277C>T, XR_007060768.1:n.3363C>T, XR_007060766.1:n.3344C>T, XR_007060770.1:n.3277C>T, XR_007060771.1:n.3363C>T, XR_007060769.1:n.3344C>T, XR_007060773.1:n.3277C>T, XR_007060772.1:n.3277C>T, XR_007060774.1:n.3363C>T, XR_007060776.1:n.3344C>T, XR_007060775.1:n.3277C>T

Select item 147907006213.

rs1479070062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:144523002 (GRCh38)
8:145748386 (GRCh37)
Canonical SPDI:: NC_000008.11:144523001:G:C
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.144523002G>C, NC_000008.10:g.145748386G>C, NG_033083.2:g.10012G>C, NG_033083.1:g.10038G>C, NM_014665.4:c.*1524G>C, NM_014665.3:c.*1524G>C, NM_001272036.2:c.*1524G>C, NM_001272036.1:c.*1524G>C, XM_005272359.6:c.*1524G>C, XM_005272359.4:c.*1524G>C, XM_005272359.3:c.*1524G>C, XM_005272358.6:c.*1524G>C, XM_005272358.4:c.*1524G>C, XM_005272358.3:c.*1524G>C, NM_001024678.4:c.1015C>G, NM_001024678.3:c.1015C>G, XM_017014005.3:c.*1524G>C, XM_017014005.1:c.*1524G>C, XM_024447336.2:c.*1524G>C, XM_024447337.2:c.*1524G>C, XR_007060777.1:n.4740G>C, XR_007060765.1:n.3234G>C, XR_007060767.1:n.3081G>C, XR_007060768.1:n.3167G>C, XR_007060766.1:n.3148G>C, XR_007060770.1:n.3081G>C, XR_007060771.1:n.3167G>C, XR_007060769.1:n.3148G>C, XR_007060773.1:n.3081G>C, XR_007060772.1:n.3081G>C, XR_007060774.1:n.3167G>C, XR_007060776.1:n.3148G>C, XR_007060775.1:n.3081G>C, NP_001019849.2:p.His339Asp

Select item 147804562014.

rs1478045620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:144522766 (GRCh38)
8:145748150 (GRCh37)
Canonical SPDI:: NC_000008.11:144522765:C:A,NC_000008.11:144522765:C:T
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144522766C>A, NC_000008.11:g.144522766C>T, NC_000008.10:g.145748150C>A, NC_000008.10:g.145748150C>T, NG_033083.2:g.9776C>A, NG_033083.2:g.9776C>T, NG_033083.1:g.9802C>A, NG_033083.1:g.9802C>T, NM_014665.4:c.*1288C>A, NM_014665.4:c.*1288C>T, NM_014665.3:c.*1288C>A, NM_014665.3:c.*1288C>T, NM_001272036.2:c.*1288C>A, NM_001272036.2:c.*1288C>T, NM_001272036.1:c.*1288C>A, NM_001272036.1:c.*1288C>T, NG_016430.2:g.61G>T, NG_016430.2:g.61G>A, XM_005272359.6:c.*1288C>A, XM_005272359.6:c.*1288C>T, XM_005272359.4:c.*1288C>A, XM_005272359.4:c.*1288C>T, XM_005272359.3:c.*1288C>A, XM_005272359.3:c.*1288C>T, XM_005272358.6:c.*1288C>A, XM_005272358.6:c.*1288C>T, XM_005272358.4:c.*1288C>A, XM_005272358.4:c.*1288C>T, XM_005272358.3:c.*1288C>A, XM_005272358.3:c.*1288C>T, NM_001024678.4:c.1251G>T, NM_001024678.4:c.1251G>A, NM_001024678.3:c.1251G>T, NM_001024678.3:c.1251G>A, XM_017014005.3:c.*1288C>A, XM_017014005.3:c.*1288C>T, XM_017014005.1:c.*1288C>A, XM_017014005.1:c.*1288C>T, XM_024447336.2:c.*1288C>A, XM_024447336.2:c.*1288C>T, XM_024447337.2:c.*1288C>A, XM_024447337.2:c.*1288C>T, XR_007060777.1:n.4504C>A, XR_007060777.1:n.4504C>T, XR_007060765.1:n.2998C>A, XR_007060765.1:n.2998C>T, XR_007060767.1:n.2845C>A, XR_007060767.1:n.2845C>T, XR_007060768.1:n.2931C>A, XR_007060768.1:n.2931C>T, XR_007060766.1:n.2912C>A, XR_007060766.1:n.2912C>T, XR_007060770.1:n.2845C>A, XR_007060770.1:n.2845C>T, XR_007060771.1:n.2931C>A, XR_007060771.1:n.2931C>T, XR_007060769.1:n.2912C>A, XR_007060769.1:n.2912C>T, XR_007060773.1:n.2845C>A, XR_007060773.1:n.2845C>T, XR_007060772.1:n.2845C>A, XR_007060772.1:n.2845C>T, XR_007060774.1:n.2931C>A, XR_007060774.1:n.2931C>T, XR_007060776.1:n.2912C>A, XR_007060776.1:n.2912C>T, XR_007060775.1:n.2845C>A, XR_007060775.1:n.2845C>T

Select item 147774647915.

rs1477746479 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144522917 (GRCh38)
8:145748301 (GRCh37)
Canonical SPDI:: NC_000008.11:144522916:T:C
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.144522917T>C, NC_000008.10:g.145748301T>C, NG_033083.2:g.9927T>C, NG_033083.1:g.9953T>C, NM_014665.4:c.*1439T>C, NM_014665.3:c.*1439T>C, NM_001272036.2:c.*1439T>C, NM_001272036.1:c.*1439T>C, XM_005272359.6:c.*1439T>C, XM_005272359.4:c.*1439T>C, XM_005272359.3:c.*1439T>C, XM_005272358.6:c.*1439T>C, XM_005272358.4:c.*1439T>C, XM_005272358.3:c.*1439T>C, NM_001024678.4:c.1100A>G, NM_001024678.3:c.1100A>G, XM_017014005.3:c.*1439T>C, XM_017014005.1:c.*1439T>C, XM_024447336.2:c.*1439T>C, XM_024447337.2:c.*1439T>C, XR_007060777.1:n.4655T>C, XR_007060765.1:n.3149T>C, XR_007060767.1:n.2996T>C, XR_007060768.1:n.3082T>C, XR_007060766.1:n.3063T>C, XR_007060770.1:n.2996T>C, XR_007060771.1:n.3082T>C, XR_007060769.1:n.3063T>C, XR_007060773.1:n.2996T>C, XR_007060772.1:n.2996T>C, XR_007060774.1:n.3082T>C, XR_007060776.1:n.3063T>C, XR_007060775.1:n.2996T>C, NP_001019849.2:p.Gln367Arg

Select item 147611430416.

rs1476114304 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:144523281 (GRCh38)
8:145748665 (GRCh37)
Canonical SPDI:: NC_000008.11:144523280:T:A
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.144523281T>A, NC_000008.10:g.145748665T>A, NG_033083.2:g.10291T>A, NG_033083.1:g.10317T>A, NM_014665.4:c.*1803T>A, NM_014665.3:c.*1803T>A, NM_001272036.2:c.*1803T>A, NM_001272036.1:c.*1803T>A, XM_005272359.6:c.*1803T>A, XM_005272359.4:c.*1803T>A, XM_005272359.3:c.*1803T>A, XM_005272358.6:c.*1803T>A, XM_005272358.4:c.*1803T>A, XM_005272358.3:c.*1803T>A, NM_001024678.4:c.736A>T, NM_001024678.3:c.736A>T, XM_017014005.3:c.*1803T>A, XM_017014005.1:c.*1803T>A, XM_024447336.2:c.*1803T>A, XM_024447337.2:c.*1803T>A, XR_007060777.1:n.5019T>A, XR_007060765.1:n.3513T>A, XR_007060767.1:n.3360T>A, XR_007060768.1:n.3446T>A, XR_007060766.1:n.3427T>A, XR_007060770.1:n.3360T>A, XR_007060771.1:n.3446T>A, XR_007060769.1:n.3427T>A, XR_007060773.1:n.3360T>A, XR_007060772.1:n.3360T>A, XR_007060774.1:n.3446T>A, XR_007060776.1:n.3427T>A, XR_007060775.1:n.3360T>A, NP_001019849.2:p.Ser246Cys

Select item 147392959117.

rs1473929591 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144524717 (GRCh38)
8:145750101 (GRCh37)
Canonical SPDI:: NC_000008.11:144524716:T:C
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.144524717T>C, NC_000008.10:g.145750101T>C, NG_033083.2:g.11727T>C, NG_033083.1:g.11753T>C, NM_014665.4:c.*3239T>C, NM_014665.3:c.*3239T>C, NM_001272036.2:c.*3239T>C, NM_001272036.1:c.*3239T>C, XM_005272359.6:c.*3239T>C, XM_005272359.4:c.*3239T>C, XM_005272359.3:c.*3239T>C, XM_005272358.6:c.*3239T>C, XM_005272358.4:c.*3239T>C, XM_005272358.3:c.*3239T>C, NM_001024678.4:c.162A>G, NM_001024678.3:c.162A>G, XM_017014005.3:c.*3239T>C, XM_017014005.1:c.*3239T>C, XM_024447336.2:c.*3239T>C, XM_024447337.2:c.*3239T>C, XR_007060777.1:n.5865T>C, XR_007060765.1:n.4647T>C, XR_007060767.1:n.4641T>C, XR_007060768.1:n.4580T>C, XR_007060766.1:n.4561T>C, XR_007060770.1:n.4494T>C, XR_007060771.1:n.4425T>C, XR_007060769.1:n.4406T>C, XR_007060773.1:n.4380T>C, XR_007060772.1:n.4339T>C, XR_007060774.1:n.4311T>C, XR_007060776.1:n.4292T>C, XR_007060775.1:n.4225T>C

Select item 147352084818.

rs1473520848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:144524898 (GRCh38)
8:145750282 (GRCh37)
Canonical SPDI:: NC_000008.11:144524897:G:A,NC_000008.11:144524897:G:T
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_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=0.000016/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.144524898G>A, NC_000008.11:g.144524898G>T, NC_000008.10:g.145750282G>A, NC_000008.10:g.145750282G>T, NG_033083.2:g.11908G>A, NG_033083.2:g.11908G>T, NG_033083.1:g.11934G>A, NG_033083.1:g.11934G>T, NM_014665.4:c.*3420G>A, NM_014665.4:c.*3420G>T, NM_014665.3:c.*3420G>A, NM_014665.3:c.*3420G>T, NM_001272036.2:c.*3420G>A, NM_001272036.2:c.*3420G>T, NM_001272036.1:c.*3420G>A, NM_001272036.1:c.*3420G>T, XM_005272359.6:c.*3420G>A, XM_005272359.6:c.*3420G>T, XM_005272359.4:c.*3420G>A, XM_005272359.4:c.*3420G>T, XM_005272359.3:c.*3420G>A, XM_005272359.3:c.*3420G>T, XM_005272358.6:c.*3420G>A, XM_005272358.6:c.*3420G>T, XM_005272358.4:c.*3420G>A, XM_005272358.4:c.*3420G>T, XM_005272358.3:c.*3420G>A, XM_005272358.3:c.*3420G>T, NM_001024678.4:c.77C>T, NM_001024678.4:c.77C>A, NM_001024678.3:c.77C>T, NM_001024678.3:c.77C>A, XM_017014005.3:c.*3420G>A, XM_017014005.3:c.*3420G>T, XM_017014005.1:c.*3420G>A, XM_017014005.1:c.*3420G>T, XM_024447336.2:c.*3420G>A, XM_024447336.2:c.*3420G>T, XM_024447337.2:c.*3420G>A, XM_024447337.2:c.*3420G>T, XR_007060777.1:n.6046G>A, XR_007060777.1:n.6046G>T, XR_007060765.1:n.4828G>A, XR_007060765.1:n.4828G>T, XR_007060767.1:n.4822G>A, XR_007060767.1:n.4822G>T, XR_007060768.1:n.4761G>A, XR_007060768.1:n.4761G>T, XR_007060766.1:n.4742G>A, XR_007060766.1:n.4742G>T, XR_007060770.1:n.4675G>A, XR_007060770.1:n.4675G>T, XR_007060771.1:n.4606G>A, XR_007060771.1:n.4606G>T, XR_007060769.1:n.4587G>A, XR_007060769.1:n.4587G>T, XR_007060773.1:n.4561G>A, XR_007060773.1:n.4561G>T, XR_007060772.1:n.4520G>A, XR_007060772.1:n.4520G>T, XR_007060774.1:n.4492G>A, XR_007060774.1:n.4492G>T, XR_007060776.1:n.4473G>A, XR_007060776.1:n.4473G>T, XR_007060775.1:n.4406G>A, XR_007060775.1:n.4406G>T, NP_001019849.2:p.Ala26Val, NP_001019849.2:p.Ala26Asp

Select item 147178170019.

rs1471781700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144523173 (GRCh38)
8:145748557 (GRCh37)
Canonical SPDI:: NC_000008.11:144523172:G:A
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: stop_gained,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_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_000008.11:g.144523173G>A, NC_000008.10:g.145748557G>A, NG_033083.2:g.10183G>A, NG_033083.1:g.10209G>A, NM_014665.4:c.*1695G>A, NM_014665.3:c.*1695G>A, NM_001272036.2:c.*1695G>A, NM_001272036.1:c.*1695G>A, XM_005272359.6:c.*1695G>A, XM_005272359.4:c.*1695G>A, XM_005272359.3:c.*1695G>A, XM_005272358.6:c.*1695G>A, XM_005272358.4:c.*1695G>A, XM_005272358.3:c.*1695G>A, NM_001024678.4:c.844C>T, NM_001024678.3:c.844C>T, XM_017014005.3:c.*1695G>A, XM_017014005.1:c.*1695G>A, XM_024447336.2:c.*1695G>A, XM_024447337.2:c.*1695G>A, XR_007060777.1:n.4911G>A, XR_007060765.1:n.3405G>A, XR_007060767.1:n.3252G>A, XR_007060768.1:n.3338G>A, XR_007060766.1:n.3319G>A, XR_007060770.1:n.3252G>A, XR_007060771.1:n.3338G>A, XR_007060769.1:n.3319G>A, XR_007060773.1:n.3252G>A, XR_007060772.1:n.3252G>A, XR_007060774.1:n.3338G>A, XR_007060776.1:n.3319G>A, XR_007060775.1:n.3252G>A, NP_001019849.2:p.Gln282Ter

Select item 147042955620.

rs1470429556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144524628 (GRCh38)
8:145750012 (GRCh37)
Canonical SPDI:: NC_000008.11:144524627:T:C
Gene:: LRRC14 (Varview), LRRC24 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000017/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144524628T>C, NC_000008.10:g.145750012T>C, NG_033083.2:g.11638T>C, NG_033083.1:g.11664T>C, NM_014665.4:c.*3150T>C, NM_014665.3:c.*3150T>C, NM_001272036.2:c.*3150T>C, NM_001272036.1:c.*3150T>C, XM_005272359.6:c.*3150T>C, XM_005272359.4:c.*3150T>C, XM_005272359.3:c.*3150T>C, XM_005272358.6:c.*3150T>C, XM_005272358.4:c.*3150T>C, XM_005272358.3:c.*3150T>C, NM_001024678.4:c.251A>G, NM_001024678.3:c.251A>G, XM_017014005.3:c.*3150T>C, XM_017014005.1:c.*3150T>C, XM_024447336.2:c.*3150T>C, XM_024447337.2:c.*3150T>C, XR_007060777.1:n.5776T>C, XR_007060765.1:n.4558T>C, XR_007060767.1:n.4552T>C, XR_007060768.1:n.4491T>C, XR_007060766.1:n.4472T>C, XR_007060770.1:n.4405T>C, XR_007060771.1:n.4336T>C, XR_007060769.1:n.4317T>C, XR_007060773.1:n.4291T>C, XR_007060772.1:n.4250T>C, XR_007060774.1:n.4222T>C, XR_007060776.1:n.4203T>C, XR_007060775.1:n.4136T>C, NP_001019849.2:p.Asn84Ser

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