SNP Links for Gene (Select 55002) - SNP

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Select item 14915698191.

rs1491569819 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 13:113516580 (GRCh38)
13:114170895 (GRCh37)
Canonical SPDI:: NC_000013.11:113516578:AGA:A
Gene:: TMCO3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000337/4 (ALFA)
-=0.000212/4 (TOMMO)
-=0.000254/35 (GnomAD)
-=0.12082/448 (TWINSUK)
-=0.131033/505 (ALSPAC)
HGVS:: NC_000013.11:g.113516580_113516581del, NC_000013.10:g.114170895_114170896del, NG_053059.1:g.30588_30589del

Select item 14915535232.

rs1491553523 has merged into rs367714085 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGAG>-,AG,AGAG,AGAGAGAG [Show Flanks]
Chromosome:: 13:113496051 (GRCh38)
13:114150366 (GRCh37)
Canonical SPDI:: NC_000013.11:113496041:GAGAGAGAGAGAGAG:GAGAGAGAG,NC_000013.11:113496041:GAGAGAGAGAGAGAG:GAGAGAGAGAG,NC_000013.11:113496041:GAGAGAGAGAGAGAG:GAGAGAGAGAGAG,NC_000013.11:113496041:GAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAG
Gene:: TMCO3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGAG=0./0 (ALFA)
-=0.00039/7 (TOMMO)
HGVS:: NC_000013.11:g.113496043AG[4], NC_000013.11:g.113496043AG[5], NC_000013.11:g.113496043AG[6], NC_000013.11:g.113496043AG[8], NC_000013.10:g.114150358AG[4], NC_000013.10:g.114150358AG[5], NC_000013.10:g.114150358AG[6], NC_000013.10:g.114150358AG[8], NG_053059.1:g.10051AG[4], NG_053059.1:g.10051AG[5], NG_053059.1:g.10051AG[6], NG_053059.1:g.10051AG[8]

Select item 14915180273.

rs1491518027 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 13:113543204 (GRCh38)
13:114197520 (GRCh37)
Canonical SPDI:: NC_000013.11:113543204:T:TGT
Gene:: TMCO3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
TG=0.00049/6 (TOMMO)
HGVS:: NC_000013.11:g.113543205_113543206insGT, NC_000013.10:g.114197520_114197521insGT, NG_053059.1:g.57213_57214insGT

Select item 14914694194.

rs1491469419 has merged into rs1215591024 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 13:113543315 (GRCh38)
13:114197630 (GRCh37)
Canonical SPDI:: NC_000013.11:113543311:CCCCC:CCC,NC_000013.11:113543311:CCCCC:CCCCCC,NC_000013.11:113543311:CCCCC:CCCCCCC,NC_000013.11:113543311:CCCCC:CCCCCCCC
Gene:: TMCO3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
CC=0.00775/83 (TOMMO)
-=0.00816/8 (Korea1K)
HGVS:: NC_000013.11:g.113543315_113543316del, NC_000013.11:g.113543316dup, NC_000013.11:g.113543315_113543316dup, NC_000013.11:g.113543314_113543316dup, NC_000013.10:g.114197630_114197631del, NC_000013.10:g.114197631dup, NC_000013.10:g.114197630_114197631dup, NC_000013.10:g.114197629_114197631dup, NG_053059.1:g.57323_57324del, NG_053059.1:g.57324dup, NG_053059.1:g.57323_57324dup, NG_053059.1:g.57322_57324dup

Select item 14914586865.

rs1491458686 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 13:113515915 (GRCh38)
13:114170230 (GRCh37)
Canonical SPDI:: NC_000013.11:113515913:AGA:A
Gene:: TMCO3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.113515915_113515916del, NC_000013.10:g.114170230_114170231del, NG_053059.1:g.29923_29924del

Select item 14914216216.

rs1491421621 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAG,AG [Show Flanks]
Chromosome:: 13:113515914 (GRCh38)
13:114170230 (GRCh37)
Canonical SPDI:: NC_000013.11:113515914::AAG,NC_000013.11:113515914::AG
Gene:: TMCO3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
HGVS:: NC_000013.11:g.113515914_113515915insAAG, NC_000013.11:g.113515914_113515915insAG, NC_000013.10:g.114170229_114170230insAAG, NC_000013.10:g.114170229_114170230insAG, NG_053059.1:g.29922_29923insAAG, NG_053059.1:g.29922_29923insAG

Select item 14913661187.

rs1491366118 has merged into rs1233468997 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCC [Show Flanks]
Chromosome:: 13:113543379 (GRCh38)
13:114197694 (GRCh37)
Canonical SPDI:: NC_000013.11:113543376:CCCC:CC,NC_000013.11:113543376:CCCC:CCCCC
Gene:: TMCO3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
-=0.00655/52 (TOMMO)
HGVS:: NC_000013.11:g.113543379_113543380del, NC_000013.11:g.113543380dup, NC_000013.10:g.114197694_114197695del, NC_000013.10:g.114197695dup, NG_053059.1:g.57387_57388del, NG_053059.1:g.57388dup

Select item 14911954718.

rs1491195471 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 13:113543376 (GRCh38)
13:114197691 (GRCh37)
Canonical SPDI:: NC_000013.11:113543375:AC:
Gene:: TMCO3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000013.11:g.113543376_113543377del, NC_000013.10:g.114197691_114197692del, NG_053059.1:g.57384_57385del

Select item 14911872429.

rs1491187242 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 13:113494656 (GRCh38)
13:114148972 (GRCh37)
Canonical SPDI:: NC_000013.11:113494656:T:TGT
Gene:: TMCO3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
TG=0.00001/1 (GnomAD)
TG=0.00047/3 (1000Genomes)
HGVS:: NC_000013.11:g.113494657_113494658insGT, NC_000013.10:g.114148972_114148973insGT, NG_053059.1:g.8665_8666insGT

Select item 149115057710.

rs1491150577 has merged into rs1422500263 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 13:113503385 (GRCh38)
13:114157700 (GRCh37)
Canonical SPDI:: NC_000013.11:113503383:TAT:T,NC_000013.11:113503383:TAT:TATAT
Gene:: TMCO3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAT=0./0 (ALFA)
TA=0.000023/3 (GnomAD)
-=0.000248/4 (TOMMO)
HGVS:: NC_000013.11:g.113503385_113503386del, NC_000013.11:g.113503385_113503386dup, NC_000013.10:g.114157700_114157701del, NC_000013.10:g.114157700_114157701dup, NG_053059.1:g.17393_17394del, NG_053059.1:g.17393_17394dup

Select item 149112817411.

rs1491128174 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:113543312 (GRCh38)
13:114197628 (GRCh37)
Canonical SPDI:: NC_000013.11:113543312::T
Gene:: TMCO3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.02546/302 (ALFA)
T=0.00015/2 (TOMMO)
HGVS:: NC_000013.11:g.113543312_113543313insT, NC_000013.10:g.114197627_114197628insT, NG_053059.1:g.57320_57321insT

Select item 149108868912.

rs1491088689 has merged into rs3841720 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 13:113503361 (GRCh38)
13:114157676 (GRCh37)
Canonical SPDI:: NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:113503345:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: TMCO3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.397/1530 (ALSPAC)
-=0.4016/1489 (TWINSUK)
HGVS:: NC_000013.11:g.113503347GT[7], NC_000013.11:g.113503347GT[9], NC_000013.11:g.113503347GT[10], NC_000013.11:g.113503347GT[11], NC_000013.11:g.113503347GT[12], NC_000013.11:g.113503347GT[13], NC_000013.11:g.113503347GT[14], NC_000013.11:g.113503347GT[15], NC_000013.11:g.113503347GT[16], NC_000013.11:g.113503347GT[17], NC_000013.11:g.113503347GT[18], NC_000013.11:g.113503347GT[20], NC_000013.11:g.113503347GT[21], NC_000013.11:g.113503347GT[22], NC_000013.11:g.113503347GT[23], NC_000013.11:g.113503347GT[24], NC_000013.11:g.113503347GT[25], NC_000013.11:g.113503347GT[26], NC_000013.11:g.113503347GT[27], NC_000013.10:g.114157662GT[7], NC_000013.10:g.114157662GT[9], NC_000013.10:g.114157662GT[10], NC_000013.10:g.114157662GT[11], NC_000013.10:g.114157662GT[12], NC_000013.10:g.114157662GT[13], NC_000013.10:g.114157662GT[14], NC_000013.10:g.114157662GT[15], NC_000013.10:g.114157662GT[16], NC_000013.10:g.114157662GT[17], NC_000013.10:g.114157662GT[18], NC_000013.10:g.114157662GT[20], NC_000013.10:g.114157662GT[21], NC_000013.10:g.114157662GT[22], NC_000013.10:g.114157662GT[23], NC_000013.10:g.114157662GT[24], NC_000013.10:g.114157662GT[25], NC_000013.10:g.114157662GT[26], NC_000013.10:g.114157662GT[27], NG_053059.1:g.17355GT[7], NG_053059.1:g.17355GT[9], NG_053059.1:g.17355GT[10], NG_053059.1:g.17355GT[11], NG_053059.1:g.17355GT[12], NG_053059.1:g.17355GT[13], NG_053059.1:g.17355GT[14], NG_053059.1:g.17355GT[15], NG_053059.1:g.17355GT[16], NG_053059.1:g.17355GT[17], NG_053059.1:g.17355GT[18], NG_053059.1:g.17355GT[20], NG_053059.1:g.17355GT[21], NG_053059.1:g.17355GT[22], NG_053059.1:g.17355GT[23], NG_053059.1:g.17355GT[24], NG_053059.1:g.17355GT[25], NG_053059.1:g.17355GT[26], NG_053059.1:g.17355GT[27]

Select item 149098454213.

rs1490984542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:113545920 (GRCh38)
13:114200235 (GRCh37)
Canonical SPDI:: NC_000013.11:113545919:G:A
Gene:: TMCO3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000013.11:g.113545920G>A, NC_000013.10:g.114200235G>A, NG_053059.1:g.59928G>A

Select item 149097133514.

rs1490971335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:113501974 (GRCh38)
13:114156289 (GRCh37)
Canonical SPDI:: NC_000013.11:113501973:G:C
Gene:: TMCO3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.113501974G>C, NC_000013.10:g.114156289G>C, NG_053059.1:g.15982G>C

Select item 149095814515.

rs1490958145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:113537388 (GRCh38)
13:114191703 (GRCh37)
Canonical SPDI:: NC_000013.11:113537387:C:A,NC_000013.11:113537387:C:T
Gene:: TMCO3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.113537388C>A, NC_000013.11:g.113537388C>T, NC_000013.10:g.114191703C>A, NC_000013.10:g.114191703C>T, NG_053059.1:g.51396C>A, NG_053059.1:g.51396C>T, XM_047430406.1:c.*775C>A, XM_047430406.1:c.*775C>T

Select item 149095606116.

rs1490956061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:113495994 (GRCh38)
13:114150309 (GRCh37)
Canonical SPDI:: NC_000013.11:113495993:G:A,NC_000013.11:113495993:G:T
Gene:: TMCO3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000013.11:g.113495994G>A, NC_000013.11:g.113495994G>T, NC_000013.10:g.114150309G>A, NC_000013.10:g.114150309G>T, NG_053059.1:g.10002G>A, NG_053059.1:g.10002G>T, NM_017905.6:c.413G>A, NM_017905.6:c.413G>T, NM_017905.5:c.413G>A, NM_017905.5:c.413G>T, NM_017905.4:c.413G>A, NM_017905.4:c.413G>T, NM_001349744.2:c.413G>A, NM_001349744.2:c.413G>T, NM_001349744.1:c.413G>A, NM_001349744.1:c.413G>T, NM_001349741.2:c.413G>A, NM_001349741.2:c.413G>T, NM_001349741.1:c.413G>A, NM_001349741.1:c.413G>T, NM_001349742.2:c.413G>A, NM_001349742.2:c.413G>T, NM_001349742.1:c.413G>A, NM_001349742.1:c.413G>T, NR_146222.2:n.746G>A, NR_146222.2:n.746G>T, NR_146222.1:n.1029G>A, NR_146222.1:n.1029G>T, NM_001349745.2:c.413G>A, NM_001349745.2:c.413G>T, NM_001349745.1:c.413G>A, NM_001349745.1:c.413G>T, NR_146221.2:n.746G>A, NR_146221.2:n.746G>T, NR_146221.1:n.1029G>A, NR_146221.1:n.1029G>T, NM_001349746.2:c.413G>A, NM_001349746.2:c.413G>T, NM_001349746.1:c.413G>A, NM_001349746.1:c.413G>T, NM_001349743.2:c.413G>A, NM_001349743.2:c.413G>T, NM_001349743.1:c.413G>A, NM_001349743.1:c.413G>T, XM_011537498.3:c.413G>A, XM_011537498.3:c.413G>T, XM_011537498.2:c.413G>A, XM_011537498.2:c.413G>T, XM_011537498.1:c.413G>A, XM_011537498.1:c.413G>T, XM_006719969.2:c.413G>A, XM_006719969.2:c.413G>T, XM_006719969.1:c.413G>A, XM_006719969.1:c.413G>T, XM_047430398.1:c.521G>A, XM_047430398.1:c.521G>T, XM_047430405.1:c.521G>A, XM_047430405.1:c.521G>T, XM_047430411.1:c.521G>A, XM_047430411.1:c.521G>T, XM_047430406.1:c.521G>A, XM_047430406.1:c.521G>T, XM_047430399.1:c.521G>A, XM_047430399.1:c.521G>T, XM_047430402.1:c.521G>A, XM_047430402.1:c.521G>T, XM_047430403.1:c.521G>A, XM_047430403.1:c.521G>T, XM_047430404.1:c.521G>A, XM_047430404.1:c.521G>T, XM_047430407.1:c.521G>A, XM_047430407.1:c.521G>T, XM_047430408.1:c.521G>A, XM_047430408.1:c.521G>T, XM_047430415.1:c.521G>A, XM_047430415.1:c.521G>T, XM_047430400.1:c.413G>A, XM_047430400.1:c.413G>T, XM_047430401.1:c.413G>A, XM_047430401.1:c.413G>T, XM_047430410.1:c.521G>A, XM_047430410.1:c.521G>T, XM_047430409.1:c.521G>A, XM_047430409.1:c.521G>T, XM_047430412.1:c.521G>A, XM_047430412.1:c.521G>T, XM_047430413.1:c.521G>A, XM_047430413.1:c.521G>T, XM_047430414.1:c.521G>A, XM_047430414.1:c.521G>T, XR_007063685.1:n.1510G>A, XR_007063685.1:n.1510G>T, NP_060375.4:p.Arg138His, NP_060375.4:p.Arg138Leu, NP_001336673.1:p.Arg138His, NP_001336673.1:p.Arg138Leu, NP_001336670.1:p.Arg138His, NP_001336670.1:p.Arg138Leu, NP_001336671.1:p.Arg138His, NP_001336671.1:p.Arg138Leu, NP_001336674.1:p.Arg138His, NP_001336674.1:p.Arg138Leu, NP_001336675.1:p.Arg138His, NP_001336675.1:p.Arg138Leu, NP_001336672.1:p.Arg138His, NP_001336672.1:p.Arg138Leu, XP_011535800.1:p.Arg138His, XP_011535800.1:p.Arg138Leu, XP_006720032.1:p.Arg138His, XP_006720032.1:p.Arg138Leu, XP_047286354.1:p.Arg174His, XP_047286354.1:p.Arg174Leu, XP_047286361.1:p.Arg174His, XP_047286361.1:p.Arg174Leu, XP_047286367.1:p.Arg174His, XP_047286367.1:p.Arg174Leu, XP_047286362.1:p.Arg174His, XP_047286362.1:p.Arg174Leu, XP_047286355.1:p.Arg174His, XP_047286355.1:p.Arg174Leu, XP_047286358.1:p.Arg174His, XP_047286358.1:p.Arg174Leu, XP_047286359.1:p.Arg174His, XP_047286359.1:p.Arg174Leu, XP_047286360.1:p.Arg174His, XP_047286360.1:p.Arg174Leu, XP_047286363.1:p.Arg174His, XP_047286363.1:p.Arg174Leu, XP_047286364.1:p.Arg174His, XP_047286364.1:p.Arg174Leu, XP_047286371.1:p.Arg174His, XP_047286371.1:p.Arg174Leu, XP_047286356.1:p.Arg138His, XP_047286356.1:p.Arg138Leu, XP_047286357.1:p.Arg138His, XP_047286357.1:p.Arg138Leu, XP_047286366.1:p.Arg174His, XP_047286366.1:p.Arg174Leu, XP_047286365.1:p.Arg174His, XP_047286365.1:p.Arg174Leu, XP_047286368.1:p.Arg174His, XP_047286368.1:p.Arg174Leu, XP_047286369.1:p.Arg174His, XP_047286369.1:p.Arg174Leu, XP_047286370.1:p.Arg174His, XP_047286370.1:p.Arg174Leu

Select item 149094181817.

rs1490941818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:113538855 (GRCh38)
13:114193170 (GRCh37)
Canonical SPDI:: NC_000013.11:113538854:G:A
Gene:: TMCO3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000013.11:g.113538855G>A, NC_000013.10:g.114193170G>A, NG_053059.1:g.52863G>A

Select item 149093890818.

rs1490938908 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:113546830 (GRCh38)
13:114201145 (GRCh37)
Canonical SPDI:: NC_000013.11:113546829:G:A
Gene:: TMCO3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.113546830G>A, NC_000013.10:g.114201145G>A, NG_053059.1:g.60838G>A

Select item 149093751819.

rs1490937518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:113489154 (GRCh38)
13:114143469 (GRCh37)
Canonical SPDI:: NC_000013.11:113489153:C:G,NC_000013.11:113489153:C:T
Gene:: TMCO3 (Varview), DCUN1D2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00011/29 (TOPMED)
HGVS:: NC_000013.11:g.113489154C>G, NC_000013.11:g.113489154C>T, NC_000013.10:g.114143469C>G, NC_000013.10:g.114143469C>T, NG_053059.1:g.3162C>G, NG_053059.1:g.3162C>T, XM_017020646.3:c.-3693G>C, XM_017020646.3:c.-3693G>A, XM_017020646.2:c.-3693G>C, XM_017020646.2:c.-3693G>A, XM_017020646.1:c.-3693G>C, XM_017020646.1:c.-3693G>A, XM_047430432.1:c.-3833G>C, XM_047430432.1:c.-3833G>A, XM_047430431.1:c.-247G>C, XM_047430431.1:c.-247G>A

Select item 149085624620.

rs1490856246 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 13:113514850 (GRCh38)
13:114169165 (GRCh37)
Canonical SPDI:: NC_000013.11:113514849:GGG:GG
Gene:: TMCO3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.113514852del, NC_000013.10:g.114169167del, NG_053059.1:g.28860del

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