SNP Links for Gene (Select 123355) - SNP

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Select item 14915527241.

rs1491552724 has merged into rs398028517 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:99289953 (GRCh38)
15:99830158 (GRCh37)
Canonical SPDI:: NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:99289939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LRRC28 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.99289953_99289963del, NC_000015.10:g.99289954_99289963del, NC_000015.10:g.99289956_99289963del, NC_000015.10:g.99289957_99289963del, NC_000015.10:g.99289958_99289963del, NC_000015.10:g.99289959_99289963del, NC_000015.10:g.99289960_99289963del, NC_000015.10:g.99289961_99289963del, NC_000015.10:g.99289962_99289963del, NC_000015.10:g.99289963del, NC_000015.10:g.99289963dup, NC_000015.10:g.99289962_99289963dup, NC_000015.10:g.99289961_99289963dup, NC_000015.10:g.99289960_99289963dup, NC_000015.10:g.99289959_99289963dup, NC_000015.10:g.99289958_99289963dup, NC_000015.10:g.99289957_99289963dup, NC_000015.10:g.99289956_99289963dup, NC_000015.10:g.99289955_99289963dup, NC_000015.10:g.99289954_99289963dup, NC_000015.10:g.99289953_99289963dup, NC_000015.10:g.99289952_99289963dup, NC_000015.10:g.99289951_99289963dup, NC_000015.10:g.99289950_99289963dup, NC_000015.10:g.99289948_99289963dup, NC_000015.9:g.99830158_99830168del, NC_000015.9:g.99830159_99830168del, NC_000015.9:g.99830161_99830168del, NC_000015.9:g.99830162_99830168del, NC_000015.9:g.99830163_99830168del, NC_000015.9:g.99830164_99830168del, NC_000015.9:g.99830165_99830168del, NC_000015.9:g.99830166_99830168del, NC_000015.9:g.99830167_99830168del, NC_000015.9:g.99830168del, NC_000015.9:g.99830168dup, NC_000015.9:g.99830167_99830168dup, NC_000015.9:g.99830166_99830168dup, NC_000015.9:g.99830165_99830168dup, NC_000015.9:g.99830164_99830168dup, NC_000015.9:g.99830163_99830168dup, NC_000015.9:g.99830162_99830168dup, NC_000015.9:g.99830161_99830168dup, NC_000015.9:g.99830160_99830168dup, NC_000015.9:g.99830159_99830168dup, NC_000015.9:g.99830158_99830168dup, NC_000015.9:g.99830157_99830168dup, NC_000015.9:g.99830156_99830168dup, NC_000015.9:g.99830155_99830168dup, NC_000015.9:g.99830153_99830168dup

Select item 14914276802.

rs1491427680 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:99264765 (GRCh38)
15:99804970 (GRCh37)
Canonical SPDI:: NC_000015.10:99264760:CTCTCT:CTCT
Gene:: LRRC28 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.003942/73 (ALFA)
-=0.001667/1 (NorthernSweden)
-=0.001718/9 (1000Genomes)
-=0.002009/9 (Estonian)
-=0.003147/833 (TOPMED)
-=0.003425/480 (GnomAD)
-=0.007265/28 (ALSPAC)
-=0.00836/31 (TWINSUK)
-=0.009018/9 (GoNL)
HGVS:: NC_000015.10:g.99264761CT[2], NC_000015.9:g.99804966CT[2]

Select item 14911960113.

rs1491196011 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 15:99253126 (GRCh38)
15:99793332 (GRCh37)
Canonical SPDI:: NC_000015.10:99253126:T:TAT
Gene:: TTC23 (Varview), LRRC28 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
TA=0.000004/1 (TOPMED)
TA=0.000043/1 (GnomAD)
HGVS:: NC_000015.10:g.99253127_99253128insAT, NC_000015.9:g.99793332_99793333insAT

Select item 14911906264.

rs1491190626 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 15:99307133 (GRCh38)
15:99847338 (GRCh37)
Canonical SPDI:: NC_000015.10:99307132:TG:
Gene:: LRRC28 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.99307133_99307134del, NC_000015.9:g.99847338_99847339del

Select item 14910686475.

rs1491068647 has merged into rs35435895 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:99292371 (GRCh38)
15:99832576 (GRCh37)
Canonical SPDI:: NC_000015.10:99292359:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:99292359:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:99292359:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:99292359:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:99292359:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:99292359:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:99292359:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:99292359:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:99292359:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:99292359:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:99292359:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:99292359:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LRRC28 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0./0 (ALSPAC)
-=0./0 (TWINSUK)
-=0.3614/1810 (1000Genomes)
HGVS:: NC_000015.10:g.99292371_99292375del, NC_000015.10:g.99292373_99292375del, NC_000015.10:g.99292374_99292375del, NC_000015.10:g.99292375del, NC_000015.10:g.99292375dup, NC_000015.10:g.99292374_99292375dup, NC_000015.10:g.99292373_99292375dup, NC_000015.10:g.99292372_99292375dup, NC_000015.10:g.99292371_99292375dup, NC_000015.10:g.99292370_99292375dup, NC_000015.10:g.99292369_99292375dup, NC_000015.10:g.99292366_99292375dup, NC_000015.9:g.99832576_99832580del, NC_000015.9:g.99832578_99832580del, NC_000015.9:g.99832579_99832580del, NC_000015.9:g.99832580del, NC_000015.9:g.99832580dup, NC_000015.9:g.99832579_99832580dup, NC_000015.9:g.99832578_99832580dup, NC_000015.9:g.99832577_99832580dup, NC_000015.9:g.99832576_99832580dup, NC_000015.9:g.99832575_99832580dup, NC_000015.9:g.99832574_99832580dup, NC_000015.9:g.99832571_99832580dup

Select item 14910631816.

rs1491063181 has merged into rs5814932 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>-,AG,AGAGAG,AGAGAGAG [Show Flanks]
Chromosome:: 15:99307141 (GRCh38)
15:99847346 (GRCh37)
Canonical SPDI:: NC_000015.10:99307133:GAGAGAGAGAG:GAGAGAG,NC_000015.10:99307133:GAGAGAGAGAG:GAGAGAGAG,NC_000015.10:99307133:GAGAGAGAGAG:GAGAGAGAGAGAG,NC_000015.10:99307133:GAGAGAGAGAG:GAGAGAGAGAGAGAG
Gene:: LRRC28 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAG=0./0 (ALFA)
GA=0.08121/313 (ALSPAC)
GA=0.08387/311 (TWINSUK)
GA=0.1002/100 (GoNL)
GA=0.1058/474 (Estonian)
GA=0.11667/70 (NorthernSweden)
GA=0.125/5 (GENOME_DK)
GA=0.15412/772 (1000Genomes)
GA=0.32381/68 (Vietnamese)
GA=0.40272/6750 (TOMMO)
HGVS:: NC_000015.10:g.99307135AG[3], NC_000015.10:g.99307135AG[4], NC_000015.10:g.99307135AG[6], NC_000015.10:g.99307135AG[7], NC_000015.9:g.99847340AG[3], NC_000015.9:g.99847340AG[4], NC_000015.9:g.99847340AG[6], NC_000015.9:g.99847340AG[7]

Select item 14910628777.

rs1491062877 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 15:99263338 (GRCh38)
15:99803543 (GRCh37)
Canonical SPDI:: NC_000015.10:99263336:AGA:A
Gene:: LRRC28 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.99263338_99263339del, NC_000015.9:g.99803543_99803544del

Select item 14910175128.

rs1491017512 has merged into rs552093424 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 15:99339725 (GRCh38)
15:99879930 (GRCh37)
Canonical SPDI:: NC_000015.10:99339714:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:99339714:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:99339714:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:99339714:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:99339714:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:99339714:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:99339714:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: LRRC28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
A=0.075251/45 (NorthernSweden)
A=0.25/10 (GENOME_DK)
HGVS:: NC_000015.10:g.99339725_99339728del, NC_000015.10:g.99339726_99339728del, NC_000015.10:g.99339727_99339728del, NC_000015.10:g.99339728del, NC_000015.10:g.99339728dup, NC_000015.10:g.99339727_99339728dup, NC_000015.10:g.99339726_99339728dup, NC_000015.9:g.99879930_99879933del, NC_000015.9:g.99879931_99879933del, NC_000015.9:g.99879932_99879933del, NC_000015.9:g.99879933del, NC_000015.9:g.99879933dup, NC_000015.9:g.99879932_99879933dup, NC_000015.9:g.99879931_99879933dup

Select item 14909830179.

rs1490983017 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:99380007 (GRCh38)
15:99920212 (GRCh37)
Canonical SPDI:: NC_000015.10:99380006:T:C
Gene:: LRRC28 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.99380007T>C, NC_000015.9:g.99920212T>C

Select item 149094125610.

rs1490941256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:99340684 (GRCh38)
15:99880889 (GRCh37)
Canonical SPDI:: NC_000015.10:99340683:A:G
Gene:: LRRC28 (Varview)
Functional Consequence:: intron_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.99340684A>G, NC_000015.9:g.99880889A>G

Select item 149093532211.

rs1490935322 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:99285539 (GRCh38)
15:99825744 (GRCh37)
Canonical SPDI:: NC_000015.10:99285538:T:C
Gene:: LRRC28 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.99285539T>C, NC_000015.9:g.99825744T>C, NG_043767.1:g.194A>G

Select item 149091899112.

rs1490918991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:99378394 (GRCh38)
15:99918599 (GRCh37)
Canonical SPDI:: NC_000015.10:99378393:C:G
Gene:: LRRC28 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.99378394C>G, NC_000015.9:g.99918599C>G

Select item 149090454413.

rs1490904544 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:99308285 (GRCh38)
15:99848490 (GRCh37)
Canonical SPDI:: NC_000015.10:99308284:A:G
Gene:: LRRC28 (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.99308285A>G, NC_000015.9:g.99848490A>G

Select item 149089797714.

rs1490897977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:99310451 (GRCh38)
15:99850656 (GRCh37)
Canonical SPDI:: NC_000015.10:99310450:A:C
Gene:: LRRC28 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.99310451A>C, NC_000015.9:g.99850656A>C

Select item 149085471015.

rs1490854710 has merged into rs1158955950 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 15:99389298 (GRCh38)
15:99929503 (GRCh37)
Canonical SPDI:: NC_000015.10:99389297:AAAAAAA:AAAAAA,NC_000015.10:99389297:AAAAAAA:AAAAAAAA
Gene:: LRRC28 (Varview), LINC02244 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.00016/1 (1000Genomes)
HGVS:: NC_000015.10:g.99389304del, NC_000015.10:g.99389304dup, NC_000015.9:g.99929509del, NC_000015.9:g.99929509dup, NM_144598.5:c.*3202del, NM_144598.5:c.*3202dup, NM_144598.4:c.*3202del, NM_144598.4:c.*3202dup, XM_011521218.3:c.*3202del, XM_011521218.3:c.*3202dup, NM_001284400.3:c.*3207del, NM_001284400.3:c.*3207dup, NM_001284400.2:c.*3207del, NM_001284400.2:c.*3207dup, NM_001321675.2:c.*3202del, NM_001321675.2:c.*3202dup, NM_001321675.1:c.*3202del, NM_001321675.1:c.*3202dup, NM_001321680.2:c.*3202del, NM_001321680.2:c.*3202dup, NM_001321680.1:c.*3202del, NM_001321680.1:c.*3202dup, NR_135755.2:n.4734del, NR_135755.2:n.4734dup, NR_135755.1:n.4406del, NR_135755.1:n.4406dup, NR_135759.2:n.4622del, NR_135759.2:n.4622dup, NR_135759.1:n.4294del, NR_135759.1:n.4294dup, NR_135758.2:n.4455del, NR_135758.2:n.4455dup, NR_135758.1:n.4574del, NR_135758.1:n.4574dup, NM_001321676.2:c.*3202del, NM_001321676.2:c.*3202dup, NM_001321676.1:c.*3202del, NM_001321676.1:c.*3202dup, NR_135757.2:n.4401del, NR_135757.2:n.4401dup, NR_135757.1:n.4520del, NR_135757.1:n.4520dup, NM_001321679.2:c.*3202del, NM_001321679.2:c.*3202dup, NM_001321679.1:c.*3202del, NM_001321679.1:c.*3202dup, NR_135753.2:n.4332del, NR_135753.2:n.4332dup, NR_135753.1:n.4451del, NR_135753.1:n.4451dup, NR_135756.2:n.4291del, NR_135756.2:n.4291dup, NR_135756.1:n.4410del, NR_135756.1:n.4410dup, NM_001321677.2:c.*3202del, NM_001321677.2:c.*3202dup, NM_001321677.1:c.*3202del, NM_001321677.1:c.*3202dup, NR_135754.2:n.4180del, NR_135754.2:n.4180dup, NR_135754.1:n.4299del, NR_135754.1:n.4299dup, NM_001321678.2:c.*3207del, NM_001321678.2:c.*3207dup, NM_001321678.1:c.*3207del, NM_001321678.1:c.*3207dup, XM_047432150.1:c.*3202del, XM_047432150.1:c.*3202dup, XM_047432149.1:c.*3202del, XM_047432149.1:c.*3202dup

Select item 149084647316.

rs1490846473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:99363123 (GRCh38)
15:99903328 (GRCh37)
Canonical SPDI:: NC_000015.10:99363122:C:T
Gene:: LRRC28 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.99363123C>T, NC_000015.9:g.99903328C>T, NM_144598.5:c.889C>T, NM_144598.4:c.889C>T, NM_144598.3:c.889C>T, NM_144598.2:c.889C>T, XM_011521218.3:c.889C>T, XM_011521218.2:c.889C>T, XM_011521218.1:c.889C>T, XM_011521220.3:c.889C>T, XM_011521220.2:c.889C>T, XM_011521220.1:c.889C>T, NM_001321675.2:c.889C>T, NM_001321675.1:c.889C>T, NM_001321680.2:c.427C>T, NM_001321680.1:c.427C>T, NR_135755.2:n.1317C>T, NR_135755.1:n.989C>T, NR_135759.2:n.1205C>T, NR_135759.1:n.877C>T, NR_135758.2:n.1038C>T, NR_135758.1:n.1157C>T, NM_001321676.2:c.877C>T, NM_001321676.1:c.877C>T, NR_135757.2:n.984C>T, NR_135757.1:n.1103C>T, NM_001321679.2:c.427C>T, NM_001321679.1:c.427C>T, NR_135753.2:n.915C>T, NR_135753.1:n.1034C>T, NR_135756.2:n.874C>T, NR_135756.1:n.993C>T, NM_001321677.2:c.682C>T, NM_001321677.1:c.682C>T, NR_135754.2:n.763C>T, NR_135754.1:n.882C>T, XM_047432150.1:c.427C>T, XM_047432149.1:c.427C>T, XM_047432145.1:c.889C>T, NP_653199.2:p.Pro297Ser, XP_011519520.1:p.Pro297Ser, XP_011519522.1:p.Pro297Ser, NP_001308604.1:p.Pro297Ser, NP_001308609.1:p.Pro143Ser, NP_001308605.1:p.Pro293Ser, NP_001308608.1:p.Pro143Ser, NP_001308606.1:p.Pro228Ser, XP_047288106.1:p.Pro143Ser, XP_047288105.1:p.Pro143Ser, XP_047288101.1:p.Pro297Ser

Select item 149084514717.

rs1490845147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:99378352 (GRCh38)
15:99918557 (GRCh37)
Canonical SPDI:: NC_000015.10:99378351:G:A,NC_000015.10:99378351:G:C
Gene:: LRRC28 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.99378352G>A, NC_000015.10:g.99378352G>C, NC_000015.9:g.99918557G>A, NC_000015.9:g.99918557G>C

Select item 149084135918.

rs1490841359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:99293593 (GRCh38)
15:99833798 (GRCh37)
Canonical SPDI:: NC_000015.10:99293592:C:A
Gene:: LRRC28 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.04175/122 (KOREAN)
HGVS:: NC_000015.10:g.99293593C>A, NC_000015.9:g.99833798C>A

Select item 149082393019.

rs1490823930 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:99275174 (GRCh38)
15:99815379 (GRCh37)
Canonical SPDI:: NC_000015.10:99275173:A:T
Gene:: LRRC28 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.99275174A>T, NC_000015.9:g.99815379A>T

Select item 149081398020.

rs1490813980 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:99305464 (GRCh38)
15:99845669 (GRCh37)
Canonical SPDI:: NC_000015.10:99305463:A:G
Gene:: LRRC28 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.00003/8 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000015.10:g.99305464A>G, NC_000015.9:g.99845669A>G

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