SNP Links for Gene (Select 56906) - SNP

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Select item 14914749801.

rs1491474980 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 15:70891565 (GRCh38)
15:71183905 (GRCh37)
Canonical SPDI:: NC_000015.10:70891565:T:TGT,NC_000015.10:70891565:T:TGTGT,NC_000015.10:70891565:T:TGTGTGT,NC_000015.10:70891565:T:TGTGTGTGT,NC_000015.10:70891565:T:TGTGTGTGTGT,NC_000015.10:70891565:T:TGTGTGTGTGTGT,NC_000015.10:70891565:T:TGTGTGTGTGTGTGT,NC_000015.10:70891565:T:TGTGTGTGTGTGTGTGT
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
TGTG=0.00167/1 (NorthernSweden)
HGVS:: NC_000015.10:g.70891566_70891567insGT, NC_000015.10:g.70891566_70891567insGTGT, NC_000015.10:g.70891567GT[3], NC_000015.10:g.70891567GT[4], NC_000015.10:g.70891567GT[5], NC_000015.10:g.70891567GT[6], NC_000015.10:g.70891567GT[7], NC_000015.10:g.70891567GT[8], NC_000015.9:g.71183905_71183906insGT, NC_000015.9:g.71183905_71183906insGTGT, NC_000015.9:g.71183906GT[3], NC_000015.9:g.71183906GT[4], NC_000015.9:g.71183906GT[5], NC_000015.9:g.71183906GT[6], NC_000015.9:g.71183906GT[7], NC_000015.9:g.71183906GT[8]

Select item 14910916182.

rs1491091618 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 15:70893527 (GRCh38)
15:71185866 (GRCh37)
Canonical SPDI:: NC_000015.10:70893526:GG:G,NC_000015.10:70893526:GG:GGG
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGG=0.000061/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.70893528del, NC_000015.10:g.70893528dup, NC_000015.9:g.71185867del, NC_000015.9:g.71185867dup

Select item 14909779483.

rs1490977948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:70892259 (GRCh38)
15:71184598 (GRCh37)
Canonical SPDI:: NC_000015.10:70892258:C:A
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.70892259C>A, NC_000015.9:g.71184598C>A, NM_020147.4:c.14G>T, NM_020147.3:c.14G>T, NP_064532.1:p.Cys5Phe

Select item 14909726224.

rs1490972622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:70880933 (GRCh38)
15:71173272 (GRCh37)
Canonical SPDI:: NC_000015.10:70880932:C:G
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_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_000015.10:g.70880933C>G, NC_000015.9:g.71173272C>G

Select item 14903312505.

rs1490331250 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTA>- [Show Flanks]
Chromosome:: 15:70884994 (GRCh38)
15:71177333 (GRCh37)
Canonical SPDI:: NC_000015.10:70884990:TTATTA:TTA
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000015.10:g.70884991TTA[1], NC_000015.9:g.71177330TTA[1]

Select item 14903086746.

rs1490308674 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:70887136 (GRCh38)
15:71179475 (GRCh37)
Canonical SPDI:: NC_000015.10:70887135:A:C
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.70887136A>C, NC_000015.9:g.71179475A>C

Select item 14902588397.

rs1490258839 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:70888264 (GRCh38)
15:71180603 (GRCh37)
Canonical SPDI:: NC_000015.10:70888263:A:T
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.70888264A>T, NC_000015.9:g.71180603A>T

Select item 14898339328.

rs1489833932 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14896784429.

rs1489678442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:70893560 (GRCh38)
15:71185899 (GRCh37)
Canonical SPDI:: NC_000015.10:70893559:T:C
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.70893560T>C, NC_000015.9:g.71185899T>C

Select item 148917825510.

rs1489178255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:70886248 (GRCh38)
15:71178587 (GRCh37)
Canonical SPDI:: NC_000015.10:70886247:G:C
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000015.10:g.70886248G>C, NC_000015.9:g.71178587G>C

Select item 148891063911.

rs1488910639 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCAA>- [Show Flanks]
Chromosome:: 15:70887042 (GRCh38)
15:71179381 (GRCh37)
Canonical SPDI:: NC_000015.10:70887039:AATCAA:AA
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.70887042_70887045del, NC_000015.9:g.71179381_71179384del

Select item 148887951912.

rs1488879519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:70884303 (GRCh38)
15:71176642 (GRCh37)
Canonical SPDI:: NC_000015.10:70884302:C:T
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.70884303C>T, NC_000015.9:g.71176642C>T

Select item 148826192713.

rs1488261927 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:70894209 (GRCh38)
15:71186548 (GRCh37)
Canonical SPDI:: NC_000015.10:70894208:T:G
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.70894209T>G, NC_000015.9:g.71186548T>G

Select item 148822399014.

rs1488223990 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:70881898 (GRCh38)
15:71174237 (GRCh37)
Canonical SPDI:: NC_000015.10:70881897:A:G
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.70881898A>G, NC_000015.9:g.71174237A>G, NM_020147.4:c.*556T>C, NM_020147.3:c.*556T>C

Select item 148801544715.

rs1488015447 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:70884566 (GRCh38)
15:71176905 (GRCh37)
Canonical SPDI:: NC_000015.10:70884565:T:G
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.70884566T>G, NC_000015.9:g.71176905T>G

Select item 148668133916.

rs1486681339 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:70884744 (GRCh38)
15:71177083 (GRCh37)
Canonical SPDI:: NC_000015.10:70884743:T:C
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.70884744T>C, NC_000015.9:g.71177083T>C

Select item 148653245117.

rs1486532451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:70891754 (GRCh38)
15:71184093 (GRCh37)
Canonical SPDI:: NC_000015.10:70891753:G:C
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.70891754G>C, NC_000015.9:g.71184093G>C

Select item 148642174518.

rs1486421745 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:70894071 (GRCh38)
15:71186411 (GRCh37)
Canonical SPDI:: NC_000015.10:70894071:TTTTTT:TTTTTTT
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.70894077dup, NC_000015.9:g.71186416dup

Select item 148608715219.

rs1486087152 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:70891918 (GRCh38)
15:71184257 (GRCh37)
Canonical SPDI:: NC_000015.10:70891917:T:A,NC_000015.10:70891917:T:C
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.70891918T>A, NC_000015.10:g.70891918T>C, NC_000015.9:g.71184257T>A, NC_000015.9:g.71184257T>C, NM_020147.4:c.355A>T, NM_020147.4:c.355A>G, NM_020147.3:c.355A>T, NM_020147.3:c.355A>G, NP_064532.1:p.Arg119Trp, NP_064532.1:p.Arg119Gly

Select item 148605153320.

rs1486051533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:70888889 (GRCh38)
15:71181228 (GRCh37)
Canonical SPDI:: NC_000015.10:70888888:A:G
Gene:: LRRC49 (Varview), THAP10 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000015.10:g.70888889A>G, NC_000015.9:g.71181228A>G

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