SNP Links for Nucleotide (Select 359279883) - SNP

Select item 14911756401.

rs1491175640 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:663695 (GRCh38)
16:713695 (GRCh37)
Canonical SPDI:: NC_000016.10:663694:CA:
Gene:: WDR90 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000016.10:g.663695_663696del, NC_000016.9:g.713695_713696del, NG_031824.1:g.613_614del, XM_047433766.1:c.*512_*513del, XM_047433767.1:c.*512_*513del

Select item 14909953552.

rs1490995355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:668779 (GRCh38)
16:718779 (GRCh37)
Canonical SPDI:: NC_000016.10:668778:G:C
Gene:: RHOT2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.668779G>C, NC_000016.9:g.718779G>C, NG_031824.1:g.5697G>C

Select item 14909811973.

rs1490981197 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:671692 (GRCh38)
16:721692 (GRCh37)
Canonical SPDI:: NC_000016.10:671691:T:C
Gene:: RHOT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.671692T>C, NC_000016.9:g.721692T>C, NG_031824.1:g.8610T>C

Select item 14908301824.

rs1490830182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:663480 (GRCh38)
16:713480 (GRCh37)
Canonical SPDI:: NC_000016.10:663479:C:T
Gene:: WDR90 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.663480C>T, NC_000016.9:g.713480C>T, NG_031824.1:g.398C>T, XM_047433766.1:c.*297C>T, XM_047433767.1:c.*297C>T

Select item 14907267625.

rs1490726762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:670865 (GRCh38)
16:720865 (GRCh37)
Canonical SPDI:: NC_000016.10:670864:C:T
Gene:: RHOT2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.670865C>T, NC_000016.9:g.720865C>T, NG_031824.1:g.7783C>T, NM_001352289.2:c.-133C>T, NM_001352289.1:c.-133C>T, NR_147954.2:n.700C>T, NR_147954.1:n.749C>T, NR_147955.2:n.695C>T, NR_147955.1:n.744C>T, NR_147956.2:n.683C>T, NR_147956.1:n.732C>T

Select item 14905903176.

rs1490590317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:668461 (GRCh38)
16:718461 (GRCh37)
Canonical SPDI:: NC_000016.10:668460:C:G
Gene:: RHOT2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.668461C>G, NC_000016.9:g.718461C>G, NG_031824.1:g.5379C>G

Select item 14904175297.

rs1490417529 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:663363 (GRCh38)
16:713363 (GRCh37)
Canonical SPDI:: NC_000016.10:663362:A:T
Gene:: WDR90 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.663363A>T, NC_000016.9:g.713363A>T, NG_031824.1:g.281A>T, XM_047433766.1:c.*180A>T, XM_047433767.1:c.*180A>T, NM_153239.1:c.*228A>T

Select item 14903215518.

rs1490321551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:665971 (GRCh38)
16:715971 (GRCh37)
Canonical SPDI:: NC_000016.10:665970:A:G
Gene:: WDR90 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.665971A>G, NC_000016.9:g.715971A>G, NG_031824.1:g.2889A>G, NM_145294.5:c.4456A>G, NM_145294.4:c.4456A>G, XM_017023023.2:c.4726A>G, XM_017023023.1:c.4726A>G, XM_017023024.2:c.2065A>G, XM_017023024.1:c.2065A>G, XM_047433722.1:c.4753A>G, XM_047433723.1:c.4750A>G, XM_047433724.1:c.4747A>G, XM_047433725.1:c.4738A>G, XM_047433726.1:c.4735A>G, XM_047433730.1:c.4699A>G, XM_047433731.1:c.4696A>G, XM_047433727.1:c.4723A>G, XM_047433734.1:c.4753A>G, XM_047433728.1:c.4711A>G, XM_047433729.1:c.4708A>G, XM_047433732.1:c.4672A>G, XM_047433733.1:c.4522A>G, XM_047433735.1:c.4507A>G, XM_047433736.1:c.4504A>G, XM_047433738.1:c.4492A>G, XM_047433739.1:c.4489A>G, XM_047433740.1:c.4486A>G, XM_047433742.1:c.4483A>G, XM_047433741.1:c.4483A>G, XM_047433744.1:c.4477A>G, XM_047433747.1:c.4462A>G, XM_047433749.1:c.4456A>G, XM_047433751.1:c.4453A>G, XM_047433750.1:c.4453A>G, XM_047433752.1:c.4450A>G, XM_047433753.1:c.4447A>G, XM_047433737.1:c.4495A>G, XM_047433743.1:c.4480A>G, XM_047433758.1:c.4507A>G, XM_047433745.1:c.4465A>G, XM_047433746.1:c.4462A>G, XM_047433748.1:c.4459A>G, XM_047433760.1:c.4492A>G, XM_047433754.1:c.4435A>G, XM_047433755.1:c.4423A>G, XM_047433756.1:c.4420A>G, XM_047433764.1:c.4465A>G, XM_047433765.1:c.4462A>G, XM_047433757.1:c.4276A>G, XM_047433759.1:c.4270A>G, XM_047433763.1:c.4237A>G, XM_047433761.1:c.4258A>G, XM_047433762.1:c.4249A>G, XM_047433768.1:c.3127A>G, NP_660337.3:p.Ser1486Gly, XP_016878512.1:p.Ser1576Gly, XP_016878513.1:p.Ser689Gly, XP_047289678.1:p.Ser1585Gly, XP_047289679.1:p.Ser1584Gly, XP_047289680.1:p.Ser1583Gly, XP_047289681.1:p.Ser1580Gly, XP_047289682.1:p.Ser1579Gly, XP_047289686.1:p.Ser1567Gly, XP_047289687.1:p.Ser1566Gly, XP_047289683.1:p.Ser1575Gly, XP_047289690.1:p.Ser1585Gly, XP_047289684.1:p.Ser1571Gly, XP_047289685.1:p.Ser1570Gly, XP_047289688.1:p.Ser1558Gly, XP_047289689.1:p.Ser1508Gly, XP_047289691.1:p.Ser1503Gly, XP_047289692.1:p.Ser1502Gly, XP_047289694.1:p.Ser1498Gly, XP_047289695.1:p.Ser1497Gly, XP_047289696.1:p.Ser1496Gly, XP_047289698.1:p.Ser1495Gly, XP_047289697.1:p.Ser1495Gly, XP_047289700.1:p.Ser1493Gly, XP_047289703.1:p.Ser1488Gly, XP_047289705.1:p.Ser1486Gly, XP_047289707.1:p.Ser1485Gly, XP_047289706.1:p.Ser1485Gly, XP_047289708.1:p.Ser1484Gly, XP_047289709.1:p.Ser1483Gly, XP_047289693.1:p.Ser1499Gly, XP_047289699.1:p.Ser1494Gly, XP_047289714.1:p.Ser1503Gly, XP_047289701.1:p.Ser1489Gly, XP_047289702.1:p.Ser1488Gly, XP_047289704.1:p.Ser1487Gly, XP_047289716.1:p.Ser1498Gly, XP_047289710.1:p.Ser1479Gly, XP_047289711.1:p.Ser1475Gly, XP_047289712.1:p.Ser1474Gly, XP_047289720.1:p.Ser1489Gly, XP_047289721.1:p.Ser1488Gly, XP_047289713.1:p.Ser1426Gly, XP_047289715.1:p.Ser1424Gly, XP_047289719.1:p.Ser1413Gly, XP_047289717.1:p.Ser1420Gly, XP_047289718.1:p.Ser1417Gly, XP_047289724.1:p.Ser1043Gly

Select item 14903180559.

rs1490318055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:667247 (GRCh38)
16:717247 (GRCh37)
Canonical SPDI:: NC_000016.10:667246:C:T
Gene:: RHOT2 (Varview), WDR90 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.667247C>T, NC_000016.9:g.717247C>T, NG_031824.1:g.4165C>T

Select item 148998477210.

rs1489984772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:672050 (GRCh38)
16:722050 (GRCh37)
Canonical SPDI:: NC_000016.10:672049:C:T
Gene:: RHOT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.672050C>T, NC_000016.9:g.722050C>T, NG_031824.1:g.8968C>T

Select item 148992722911.

rs1489927229 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGGAAACCCCGTGCGTGCCT>- [Show Flanks]
Chromosome:: 16:664193 (GRCh38)
16:714193 (GRCh37)
Canonical SPDI:: NC_000016.10:664173:GGAAACCCCGTGCGTGCCTAGAGGAAACCCCGTGCGTGCCT:GGAAACCCCGTGCGTGCCT
Gene:: WDR90 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAAACCCCGTGCGTGCCT=0.000214/3 (ALFA)
-=0.000042/11 (TOPMED)
-=0.000109/10 (GnomAD)
HGVS:: NC_000016.10:g.664193_664214del, NC_000016.9:g.714193_714214del, NG_031824.1:g.1111_1132del, XM_047433766.1:c.*1010_*1031del, XM_047433767.1:c.*1010_*1031del

Select item 148990883312.

rs1489908833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:671060 (GRCh38)
16:721060 (GRCh37)
Canonical SPDI:: NC_000016.10:671059:C:G,NC_000016.10:671059:C:T
Gene:: RHOT2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.671060C>G, NC_000016.10:g.671060C>T, NC_000016.9:g.721060C>G, NC_000016.9:g.721060C>T, NG_031824.1:g.7978C>G, NG_031824.1:g.7978C>T, NM_001352289.2:c.63C>G, NM_001352289.2:c.63C>T, NM_001352289.1:c.63C>G, NM_001352289.1:c.63C>T, NM_001352290.2:c.63C>G, NM_001352290.2:c.63C>T, NM_001352290.1:c.63C>G, NM_001352290.1:c.63C>T, NM_001352293.2:c.63C>G, NM_001352293.2:c.63C>T, NM_001352293.1:c.63C>G, NM_001352293.1:c.63C>T, NM_001352292.2:c.63C>G, NM_001352292.2:c.63C>T, NM_001352292.1:c.63C>G, NM_001352292.1:c.63C>T, NM_001352288.2:c.63C>G, NM_001352288.2:c.63C>T, NM_001352288.1:c.63C>G, NM_001352288.1:c.63C>T, NR_147953.2:n.822C>G, NR_147953.2:n.822C>T, NR_147953.1:n.871C>G, NR_147953.1:n.871C>T, NM_001352291.2:c.63C>G, NM_001352291.2:c.63C>T, NM_001352291.1:c.63C>G, NM_001352291.1:c.63C>T, NM_001352294.2:c.63C>G, NM_001352294.2:c.63C>T, NM_001352294.1:c.63C>G, NM_001352294.1:c.63C>T, NM_001352287.1:c.63C>G, NM_001352287.1:c.63C>T

Select item 148986586113.

rs1489865861 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:666779 (GRCh38)
16:716779 (GRCh37)
Canonical SPDI:: NC_000016.10:666778:T:A
Gene:: RHOT2 (Varview), WDR90 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_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_000016.10:g.666779T>A, NC_000016.9:g.716779T>A, NG_031824.1:g.3697T>A, NM_145294.5:c.4991T>A, NM_145294.4:c.4991T>A, XM_017023023.2:c.5261T>A, XM_017023023.1:c.5261T>A, XM_017023024.2:c.2600T>A, XM_017023024.1:c.2600T>A, XM_047433722.1:c.5288T>A, XM_047433723.1:c.5285T>A, XM_047433724.1:c.5282T>A, XM_047433725.1:c.5273T>A, XM_047433726.1:c.5270T>A, XM_047433730.1:c.5234T>A, XM_047433731.1:c.5231T>A, XM_047433727.1:c.5258T>A, XM_047433734.1:c.5288T>A, XM_047433728.1:c.5246T>A, XM_047433729.1:c.5243T>A, XM_047433732.1:c.5207T>A, XM_047433733.1:c.5057T>A, XM_047433735.1:c.5042T>A, XM_047433736.1:c.5039T>A, XM_047433738.1:c.5027T>A, XM_047433739.1:c.5024T>A, XM_047433740.1:c.5021T>A, XM_047433742.1:c.5018T>A, XM_047433741.1:c.5018T>A, XM_047433744.1:c.5012T>A, XM_047433747.1:c.4997T>A, XM_047433749.1:c.4991T>A, XM_047433751.1:c.4988T>A, XM_047433750.1:c.4988T>A, XM_047433752.1:c.4985T>A, XM_047433753.1:c.4982T>A, XM_047433737.1:c.5030T>A, XM_047433743.1:c.5015T>A, XM_047433758.1:c.5042T>A, XM_047433745.1:c.5000T>A, XM_047433746.1:c.4997T>A, XM_047433748.1:c.4994T>A, XM_047433760.1:c.5027T>A, XM_047433754.1:c.4970T>A, XM_047433755.1:c.4958T>A, XM_047433756.1:c.4955T>A, XM_047433764.1:c.5000T>A, XM_047433765.1:c.4997T>A, XM_047433757.1:c.4811T>A, XM_047433759.1:c.4805T>A, XM_047433763.1:c.4772T>A, XM_047433761.1:c.4793T>A, XM_047433762.1:c.4784T>A, XM_047433768.1:c.3662T>A, NP_660337.3:p.Leu1664His, XP_016878512.1:p.Leu1754His, XP_016878513.1:p.Leu867His, XP_047289678.1:p.Leu1763His, XP_047289679.1:p.Leu1762His, XP_047289680.1:p.Leu1761His, XP_047289681.1:p.Leu1758His, XP_047289682.1:p.Leu1757His, XP_047289686.1:p.Leu1745His, XP_047289687.1:p.Leu1744His, XP_047289683.1:p.Leu1753His, XP_047289690.1:p.Leu1763His, XP_047289684.1:p.Leu1749His, XP_047289685.1:p.Leu1748His, XP_047289688.1:p.Leu1736His, XP_047289689.1:p.Leu1686His, XP_047289691.1:p.Leu1681His, XP_047289692.1:p.Leu1680His, XP_047289694.1:p.Leu1676His, XP_047289695.1:p.Leu1675His, XP_047289696.1:p.Leu1674His, XP_047289698.1:p.Leu1673His, XP_047289697.1:p.Leu1673His, XP_047289700.1:p.Leu1671His, XP_047289703.1:p.Leu1666His, XP_047289705.1:p.Leu1664His, XP_047289707.1:p.Leu1663His, XP_047289706.1:p.Leu1663His, XP_047289708.1:p.Leu1662His, XP_047289709.1:p.Leu1661His, XP_047289693.1:p.Leu1677His, XP_047289699.1:p.Leu1672His, XP_047289714.1:p.Leu1681His, XP_047289701.1:p.Leu1667His, XP_047289702.1:p.Leu1666His, XP_047289704.1:p.Leu1665His, XP_047289716.1:p.Leu1676His, XP_047289710.1:p.Leu1657His, XP_047289711.1:p.Leu1653His, XP_047289712.1:p.Leu1652His, XP_047289720.1:p.Leu1667His, XP_047289721.1:p.Leu1666His, XP_047289713.1:p.Leu1604His, XP_047289715.1:p.Leu1602His, XP_047289719.1:p.Leu1591His, XP_047289717.1:p.Leu1598His, XP_047289718.1:p.Leu1595His, XP_047289724.1:p.Leu1221His

Select item 148977941214.

rs1489779412 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGGCTACC>- [Show Flanks]
Chromosome:: 16:672134 (GRCh38)
16:722134 (GRCh37)
Canonical SPDI:: NC_000016.10:672126:GGCTACCTGGGCTACC:GGCTACC
Gene:: RHOT2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.672134_672142del, NC_000016.9:g.722134_722142del, NG_031824.1:g.9052_9060del, NM_138769.3:c.1148_1156del, NM_138769.2:c.1148_1156del, NM_001352289.2:c.485_493del, NM_001352289.1:c.485_493del, NM_001352290.2:c.485_493del, NM_001352290.1:c.485_493del, NM_001352293.2:c.485_493del, NM_001352293.1:c.485_493del, NM_001352292.2:c.485_493del, NM_001352292.1:c.485_493del, NM_001352288.2:c.485_493del, NM_001352288.1:c.485_493del, NR_147953.2:n.1244_1252del, NR_147953.1:n.1293_1301del, NR_147954.2:n.1235_1243del, NR_147954.1:n.1284_1292del, NR_147955.2:n.1230_1238del, NR_147955.1:n.1279_1287del, NM_001352291.2:c.485_493del, NM_001352291.1:c.485_493del, NM_001352275.2:c.1151_1159del, NM_001352275.1:c.1151_1159del, NR_147956.2:n.1218_1226del, NR_147956.1:n.1267_1275del, NM_001352283.2:c.767_775del, NM_001352283.1:c.767_775del, NM_001352280.2:c.830_838del, NM_001352280.1:c.830_838del, NM_001352294.2:c.485_493del, NM_001352294.1:c.485_493del, NM_001352281.2:c.827_835del, NM_001352281.1:c.827_835del, NM_001352276.2:c.1097_1105del, NM_001352276.1:c.1097_1105del, NM_001352277.2:c.1094_1102del, NM_001352277.1:c.1094_1102del, NM_001352282.2:c.827_835del, NM_001352282.1:c.827_835del, NM_001352278.2:c.1049_1057del, NM_001352278.1:c.1049_1057del, NM_001352284.2:c.731_739del, NM_001352284.1:c.731_739del, NM_001352285.2:c.728_736del, NM_001352285.1:c.728_736del, NM_001352279.2:c.995_1003del, NM_001352279.1:c.995_1003del, NM_001352286.2:c.671_679del, NM_001352286.1:c.671_679del, NM_001352287.1:c.485_493del, XM_047434840.1:c.830_838del, XM_047434842.1:c.770_778del, XM_047434843.1:c.770_778del, XM_047434844.1:c.770_778del, XM_047434845.1:c.767_775del, XM_047434846.1:c.767_775del, XM_047434848.1:c.668_676del, XM_047434841.1:c.830_838del, XM_047434847.1:c.1151_1159del, NP_620124.1:p.380LGY[1], NP_001339218.1:p.159LGY[1], NP_001339219.1:p.159LGY[1], NP_001339222.1:p.159LGY[1], NP_001339221.1:p.159LGY[1], NP_001339217.1:p.159LGY[1], NP_001339220.1:p.159LGY[1], NP_001339204.1:p.381LGY[1], NP_001339212.1:p.253LGY[1], NP_001339209.1:p.274LGY[1], NP_001339223.1:p.159LGY[1], NP_001339210.1:p.273LGY[1], NP_001339205.1:p.363LGY[1], NP_001339206.1:p.362LGY[1], NP_001339211.1:p.273LGY[1], NP_001339207.1:p.347LGY[1], NP_001339213.1:p.241LGY[1], NP_001339214.1:p.240LGY[1], NP_001339208.1:p.329LGY[1], NP_001339215.1:p.221LGY[1], NP_001339216.1:p.159LGY[1], XP_047290796.1:p.274LGY[1], XP_047290798.1:p.254LGY[1], XP_047290799.1:p.254LGY[1], XP_047290800.1:p.254LGY[1], XP_047290801.1:p.253LGY[1], XP_047290802.1:p.253LGY[1], XP_047290804.1:p.220LGY[1], XP_047290797.1:p.274LGY[1], XP_047290803.1:p.381LGY[1]

Select item 148962953815.

rs1489629538 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:675616 (GRCh38)
16:725616 (GRCh37)
Canonical SPDI:: NC_000016.10:675615:G:T
Gene:: RHBDL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.675616G>T, NC_000016.9:g.725616G>T, NG_031824.1:g.12534G>T, NG_034141.1:g.506G>T

Select item 148923633716.

rs1489236337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:670069 (GRCh38)
16:720069 (GRCh37)
Canonical SPDI:: NC_000016.10:670068:G:A
Gene:: RHOT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000036/5 (GnomAD)
HGVS:: NC_000016.10:g.670069G>A, NC_000016.9:g.720069G>A, NG_031824.1:g.6987G>A

Select item 148916460517.

rs1489164605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:675420 (GRCh38)
16:725420 (GRCh37)
Canonical SPDI:: NC_000016.10:675419:C:G,NC_000016.10:675419:C:T
Gene:: RHBDL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.675420C>G, NC_000016.10:g.675420C>T, NC_000016.9:g.725420C>G, NC_000016.9:g.725420C>T, NG_031824.1:g.12338C>G, NG_031824.1:g.12338C>T, NG_034141.1:g.310C>G, NG_034141.1:g.310C>T

Select item 148863362418.

rs1488633624 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 16:665637 (GRCh38)
16:715637 (GRCh37)
Canonical SPDI:: NC_000016.10:665636:CCC:CC
Gene:: WDR90 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.665639del, NC_000016.9:g.715639del, NG_031824.1:g.2557del

Select item 148859020619.

rs1488590206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:671874 (GRCh38)
16:721874 (GRCh37)
Canonical SPDI:: NC_000016.10:671873:C:T
Gene:: RHOT2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.671874C>T, NC_000016.9:g.721874C>T, NG_031824.1:g.8792C>T, NM_138769.3:c.969C>T, NM_138769.2:c.969C>T, NM_001352289.2:c.306C>T, NM_001352289.1:c.306C>T, NM_001352290.2:c.306C>T, NM_001352290.1:c.306C>T, NM_001352293.2:c.306C>T, NM_001352293.1:c.306C>T, NM_001352292.2:c.306C>T, NM_001352292.1:c.306C>T, NM_001352288.2:c.306C>T, NM_001352288.1:c.306C>T, NR_147953.2:n.1065C>T, NR_147953.1:n.1114C>T, NR_147954.2:n.1056C>T, NR_147954.1:n.1105C>T, NR_147955.2:n.1051C>T, NR_147955.1:n.1100C>T, NM_001352291.2:c.306C>T, NM_001352291.1:c.306C>T, NM_001352275.2:c.972C>T, NM_001352275.1:c.972C>T, NR_147956.2:n.1039C>T, NR_147956.1:n.1088C>T, NM_001352283.2:c.588C>T, NM_001352283.1:c.588C>T, NM_001352280.2:c.651C>T, NM_001352280.1:c.651C>T, NM_001352294.2:c.306C>T, NM_001352294.1:c.306C>T, NM_001352281.2:c.648C>T, NM_001352281.1:c.648C>T, NM_001352276.2:c.918C>T, NM_001352276.1:c.918C>T, NM_001352277.2:c.915C>T, NM_001352277.1:c.915C>T, NM_001352282.2:c.648C>T, NM_001352282.1:c.648C>T, NM_001352278.2:c.870C>T, NM_001352278.1:c.870C>T, NM_001352284.2:c.552C>T, NM_001352284.1:c.552C>T, NM_001352285.2:c.549C>T, NM_001352285.1:c.549C>T, NM_001352279.2:c.816C>T, NM_001352279.1:c.816C>T, NM_001352286.2:c.492C>T, NM_001352286.1:c.492C>T, NM_001352287.1:c.306C>T, XM_047434840.1:c.651C>T, XM_047434842.1:c.591C>T, XM_047434843.1:c.591C>T, XM_047434844.1:c.591C>T, XM_047434845.1:c.588C>T, XM_047434846.1:c.588C>T, XM_047434848.1:c.489C>T, XM_047434841.1:c.651C>T, XM_047434847.1:c.972C>T

Select item 148855193020.

rs1488551930 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:668301 (GRCh38)
16:718301 (GRCh37)
Canonical SPDI:: NC_000016.10:668300:T:C,NC_000016.10:668300:T:G
Gene:: RHOT2 (Varview), WDR90 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.011127/32 (KOREAN)
T=0.5/1 (Siberian)
HGVS:: NC_000016.10:g.668301T>C, NC_000016.10:g.668301T>G, NC_000016.9:g.718301T>C, NC_000016.9:g.718301T>G, NG_031824.1:g.5219T>C, NG_031824.1:g.5219T>G

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