KIAA1210 - SNP

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Select item 18698031.

rs1869803 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:119088638 (GRCh38)
X:118222601 (GRCh37)
Canonical SPDI:: NC_000023.11:119088637:A:G,NC_000023.11:119088637:A:T
Gene:: KIAA1210 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000703/62 (ALFA)
T=0./0 (HapMap)
T=0./0 (PRJEB36033)
T=0.002363/426 (GnomAD_exomes)
T=0.00325/268 (ExAC)
T=0.009164/957 (GnomAD)
T=0.009259/1 (Qatari)
T=0.009365/35 (1000Genomes)
T=0.01057/103 (GoESP)
A=0.166667/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.119088638A>G, NC_000023.11:g.119088638A>T, NC_000023.10:g.118222601A>G, NC_000023.10:g.118222601A>T, XM_017029688.3:c.2109T>C, XM_017029688.3:c.2109T>A, XM_017029688.2:c.2109T>C, XM_017029688.2:c.2109T>A, XM_017029688.1:c.2109T>C, XM_017029688.1:c.2109T>A, XM_017029689.3:c.1911T>C, XM_017029689.3:c.1911T>A, XM_017029689.2:c.1911T>C, XM_017029689.2:c.1911T>A, XM_017029689.1:c.1911T>C, XM_017029689.1:c.1911T>A, NM_020721.1:c.2592T>C, NM_020721.1:c.2592T>A, NM_001394962.1:c.2064T>C, NM_001394962.1:c.2064T>A, XP_016885177.1:p.Asp703Glu, XP_016885178.1:p.Asp637Glu, NP_065772.1:p.Asp864Glu, NP_001381891.1:p.Asp688Glu

Select item 37615922.

rs3761592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: X:119088397 (GRCh38)
X:118222360 (GRCh37)
Canonical SPDI:: NC_000023.11:119088396:T:A,NC_000023.11:119088396:T:C,NC_000023.11:119088396:T:G
Gene:: KIAA1210 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.025/1 (GENOME_DK)
A=0.052434/28 (MGP)
A=0.053398/198 (TWINSUK)
A=0.053998/156 (ALSPAC)
T=0.125/1 (Siberian)
A=0.163311/1590 (GoESP)
A=0.178792/18442 (GnomAD)
T=0.196629/35 (SGDP_PRJ)
A=0.231481/25 (Qatari)
A=0.278044/1050 (1000Genomes)
A=0.325/104 (HapMap)
A=0.398649/59 (Vietnamese)
A=0.454266/1331 (KOREAN)
A=0.478378/6144 (TOMMO)
HGVS:: NC_000023.11:g.119088397T>A, NC_000023.11:g.119088397T>C, NC_000023.11:g.119088397T>G, NC_000023.10:g.118222360T>A, NC_000023.10:g.118222360T>C, NC_000023.10:g.118222360T>G, XM_017029688.3:c.2350A>T, XM_017029688.3:c.2350A>G, XM_017029688.3:c.2350A>C, XM_017029688.2:c.2350A>T, XM_017029688.2:c.2350A>G, XM_017029688.2:c.2350A>C, XM_017029688.1:c.2350A>T, XM_017029688.1:c.2350A>G, XM_017029688.1:c.2350A>C, XM_017029689.3:c.2152A>T, XM_017029689.3:c.2152A>G, XM_017029689.3:c.2152A>C, XM_017029689.2:c.2152A>T, XM_017029689.2:c.2152A>G, XM_017029689.2:c.2152A>C, XM_017029689.1:c.2152A>T, XM_017029689.1:c.2152A>G, XM_017029689.1:c.2152A>C, NM_020721.1:c.2833A>T, NM_020721.1:c.2833A>G, NM_020721.1:c.2833A>C, NM_001394962.1:c.2305A>T, NM_001394962.1:c.2305A>G, NM_001394962.1:c.2305A>C, XP_016885177.1:p.Ile784Phe, XP_016885177.1:p.Ile784Val, XP_016885177.1:p.Ile784Leu, XP_016885178.1:p.Ile718Phe, XP_016885178.1:p.Ile718Val, XP_016885178.1:p.Ile718Leu, NP_065772.1:p.Ile945Phe, NP_065772.1:p.Ile945Val, NP_065772.1:p.Ile945Leu, NP_001381891.1:p.Ile769Phe, NP_001381891.1:p.Ile769Val, NP_001381891.1:p.Ile769Leu

Select item 1398457903.

rs139845790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119094105 (GRCh38)
X:118228068 (GRCh37)
Canonical SPDI:: NC_000023.11:119094104:G:A
Gene:: KIAA1210 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0023/33 (ALFA)
A=0.000045/1 (TOMMO)
A=0.000827/147 (GnomAD_exomes)
A=0.001115/92 (ExAC)
A=0.003012/29 (GoESP)
A=0.003249/860 (TOPMED)
A=0.003315/344 (GnomAD)
A=0.00333/13 (1000Genomes)
A=0.009259/1 (Qatari)
G=0.125/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.119094105G>A, NC_000023.10:g.118228068G>A

Select item 1447218334.

rs144721833 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119088327 (GRCh38)
X:118222290 (GRCh37)
Canonical SPDI:: NC_000023.11:119088326:T:C
Gene:: KIAA1210 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001569/280 (ALFA)
T=0./0 (SGDP_PRJ)
C=0.002732/492 (GnomAD_exomes)
C=0.003211/277 (ExAC)
C=0.009745/1012 (GnomAD)
C=0.00985/96 (GoESP)
C=0.010406/39 (1000Genomes)
C=0.011243/2976 (TOPMED)
HGVS:: NC_000023.11:g.119088327T>C, NC_000023.10:g.118222290T>C, XM_017029688.3:c.2420A>G, XM_017029688.2:c.2420A>G, XM_017029688.1:c.2420A>G, XM_017029689.3:c.2222A>G, XM_017029689.2:c.2222A>G, XM_017029689.1:c.2222A>G, NM_020721.1:c.2903A>G, NM_001394962.1:c.2375A>G, XP_016885177.1:p.Lys807Arg, XP_016885178.1:p.Lys741Arg, NP_065772.1:p.Lys968Arg, NP_001381891.1:p.Lys792Arg

Select item 1459298405.

rs145929840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119096546 (GRCh38)
X:118230509 (GRCh37)
Canonical SPDI:: NC_000023.11:119096545:C:T
Gene:: KIAA1210 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.012489/2499 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.001873/1 (MGP)
T=0.00666/25 (1000Genomes)
T=0.007629/75 (GoESP)
T=0.007768/2056 (TOPMED)
T=0.008471/883 (GnomAD)
T=0.00919/1657 (GnomAD_exomes)
T=0.009628/825 (ExAC)
T=0.013215/49 (TWINSUK)
T=0.014192/41 (ALSPAC)
T=0.018519/2 (Qatari)
T=0.025/1 (GENOME_DK)
HGVS:: NC_000023.11:g.119096546C>T, NC_000023.10:g.118230509C>T, XM_017029688.3:c.839G>A, XM_017029688.2:c.839G>A, XM_017029688.1:c.839G>A, NM_020721.1:c.1214G>A, NM_001394962.1:c.794G>A, XP_016885177.1:p.Arg280His, NP_065772.1:p.Arg405His, NP_001381891.1:p.Arg265His

Select item 2000154966.

rs200015496 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:119087355 (GRCh38)
X:118221318 (GRCh37)
Canonical SPDI:: NC_000023.11:119087354:A:G
Gene:: KIAA1210 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001066/194 (ALFA)
G=0.000527/5 (GoESP)
G=0.000552/100 (GnomAD_exomes)
G=0.000555/147 (TOPMED)
G=0.000605/63 (GnomAD)
G=0.000751/65 (ExAC)
G=0.001038/3 (ALSPAC)
G=0.001873/1 (MGP)
G=0.001888/7 (TWINSUK)
HGVS:: NC_000023.11:g.119087355A>G, NC_000023.10:g.118221318A>G, XM_017029688.3:c.3392T>C, XM_017029688.2:c.3392T>C, XM_017029688.1:c.3392T>C, XM_017029689.3:c.3194T>C, XM_017029689.2:c.3194T>C, XM_017029689.1:c.3194T>C, NM_020721.1:c.3875T>C, NM_001394962.1:c.3347T>C, XP_016885177.1:p.Leu1131Pro, XP_016885178.1:p.Leu1065Pro, NP_065772.1:p.Leu1292Pro, NP_001381891.1:p.Leu1116Pro

Select item 2012547827.

rs201254782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:119116524 (GRCh38)
X:118250487 (GRCh37)
Canonical SPDI:: NC_000023.11:119116523:C:A,NC_000023.11:119116523:C:T
Gene:: KIAA1210 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00198/351 (ALFA)
T=0.000416/2 (1000Genomes)
T=0.001243/130 (GnomAD)
T=0.00133/109 (ExAC)
T=0.001375/364 (TOPMED)
T=0.001911/19 (GoESP)
T=0.003745/2 (MGP)
T=0.003776/14 (TWINSUK)
T=0.003808/11 (ALSPAC)
HGVS:: NC_000023.11:g.119116524C>A, NC_000023.11:g.119116524C>T, NC_000023.10:g.118250487C>A, NC_000023.10:g.118250487C>T, XM_017029688.3:c.247G>T, XM_017029688.3:c.247G>A, XM_017029688.2:c.247G>T, XM_017029688.2:c.247G>A, XM_017029688.1:c.247G>T, XM_017029688.1:c.247G>A, XM_017029689.3:c.247G>T, XM_017029689.3:c.247G>A, XM_017029689.2:c.247G>T, XM_017029689.2:c.247G>A, XM_017029689.1:c.247G>T, XM_017029689.1:c.247G>A, NM_020721.1:c.622G>T, NM_020721.1:c.622G>A, NM_001394962.1:c.202G>T, NM_001394962.1:c.202G>A, XP_016885177.1:p.Val83Phe, XP_016885177.1:p.Val83Ile, XP_016885178.1:p.Val83Phe, XP_016885178.1:p.Val83Ile, NP_065772.1:p.Val208Phe, NP_065772.1:p.Val208Ile, NP_001381891.1:p.Val68Phe, NP_001381891.1:p.Val68Ile

Select item 2015638158.

rs201563815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:119087808 (GRCh38)
X:118221771 (GRCh37)
Canonical SPDI:: NC_000023.11:119087807:C:A,NC_000023.11:119087807:C:T
Gene:: KIAA1210 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000209/37 (ALFA)
T=0.000702/127 (GnomAD_exomes)
T=0.000909/79 (ExAC)
T=0.001883/18 (GoESP)
T=0.002285/238 (GnomAD)
T=0.003122/12 (1000Genomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.119087808C>A, NC_000023.11:g.119087808C>T, NC_000023.10:g.118221771C>A, NC_000023.10:g.118221771C>T, XM_017029688.3:c.2939G>T, XM_017029688.3:c.2939G>A, XM_017029688.2:c.2939G>T, XM_017029688.2:c.2939G>A, XM_017029688.1:c.2939G>T, XM_017029688.1:c.2939G>A, XM_017029689.3:c.2741G>T, XM_017029689.3:c.2741G>A, XM_017029689.2:c.2741G>T, XM_017029689.2:c.2741G>A, XM_017029689.1:c.2741G>T, XM_017029689.1:c.2741G>A, NM_020721.1:c.3422G>T, NM_020721.1:c.3422G>A, NM_001394962.1:c.2894G>T, NM_001394962.1:c.2894G>A, XP_016885177.1:p.Arg980Leu, XP_016885177.1:p.Arg980Gln, XP_016885178.1:p.Arg914Leu, XP_016885178.1:p.Arg914Gln, NP_065772.1:p.Arg1141Leu, NP_065772.1:p.Arg1141Gln, NP_001381891.1:p.Arg965Leu, NP_001381891.1:p.Arg965Gln

Select item 3699568999.

rs369956899 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:119105063 (GRCh38)
X:118239026 (GRCh37)
Canonical SPDI:: NC_000023.11:119105062:A:C,NC_000023.11:119105062:A:G
Gene:: KIAA1210 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.0001/1 (GoESP)
HGVS:: NC_000023.11:g.119105063A>C, NC_000023.11:g.119105063A>G, NC_000023.10:g.118239026A>C, NC_000023.10:g.118239026A>G, XM_017029688.3:c.622T>G, XM_017029688.3:c.622T>C, XM_017029688.2:c.622T>G, XM_017029688.2:c.622T>C, XM_017029688.1:c.622T>G, XM_017029688.1:c.622T>C, XM_017029689.3:c.622T>G, XM_017029689.3:c.622T>C, XM_017029689.2:c.622T>G, XM_017029689.2:c.622T>C, XM_017029689.1:c.622T>G, XM_017029689.1:c.622T>C, NM_020721.1:c.997T>G, NM_020721.1:c.997T>C, NM_001394962.1:c.577T>G, NM_001394962.1:c.577T>C, XP_016885177.1:p.Ser208Ala, XP_016885177.1:p.Ser208Pro, XP_016885178.1:p.Ser208Ala, XP_016885178.1:p.Ser208Pro, NP_065772.1:p.Ser333Ala, NP_065772.1:p.Ser333Pro, NP_001381891.1:p.Ser193Ala, NP_001381891.1:p.Ser193Pro

Select item 77857659010.

rs778576590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:119108347 (GRCh38)
X:118242310 (GRCh37)
Canonical SPDI:: NC_000023.11:119108346:T:G
Gene:: KIAA1210 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000264/47 (GnomAD_exomes)
G=0.00034/29 (ExAC)
G=0.001041/4 (1000Genomes)
HGVS:: NC_000023.11:g.119108347T>G, NC_000023.10:g.118242310T>G, XM_017029688.3:c.527A>C, XM_017029688.2:c.527A>C, XM_017029688.1:c.527A>C, XM_017029689.3:c.527A>C, XM_017029689.2:c.527A>C, XM_017029689.1:c.527A>C, NM_020721.1:c.902A>C, NM_001394962.1:c.482A>C, XP_016885177.1:p.Lys176Thr, XP_016885178.1:p.Lys176Thr, NP_065772.1:p.Lys301Thr, NP_001381891.1:p.Lys161Thr

Select item 77956212811.

rs779562128 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGAGA>- [Show Flanks]
Chromosome:: X:119105157 (GRCh38)
X:118239120 (GRCh37)
Canonical SPDI:: NC_000023.11:119105153:AGAGGGAGA:AGA
Gene:: KIAA1210 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0.00013/3 (ALFA)
-=0.000023/2 (ExAC)
-=0.000031/5 (GnomAD_exomes)
-=0.000049/13 (TOPMED)
-=0.000067/7 (GnomAD)
HGVS:: NC_000023.11:g.119105157_119105162del, NC_000023.10:g.118239120_118239125del

Select item 5686310012.

rs56863100 has merged into rs3761592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: X:119088397 (GRCh38)
X:118222360 (GRCh37)
Canonical SPDI:: NC_000023.11:119088396:T:A,NC_000023.11:119088396:T:C,NC_000023.11:119088396:T:G
Gene:: KIAA1210 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.025/1 (GENOME_DK)
A=0.052434/28 (MGP)
A=0.053398/198 (TWINSUK)
A=0.053998/156 (ALSPAC)
T=0.125/1 (Siberian)
A=0.163311/1590 (GoESP)
A=0.178792/18442 (GnomAD)
T=0.196629/35 (SGDP_PRJ)
A=0.231481/25 (Qatari)
A=0.278044/1050 (1000Genomes)
A=0.325/104 (HapMap)
A=0.398649/59 (Vietnamese)
A=0.454266/1331 (KOREAN)
A=0.478378/6144 (TOMMO)
HGVS:: NC_000023.11:g.119088397T>A, NC_000023.11:g.119088397T>C, NC_000023.11:g.119088397T>G, NC_000023.10:g.118222360T>A, NC_000023.10:g.118222360T>C, NC_000023.10:g.118222360T>G, XM_017029688.3:c.2350A>T, XM_017029688.3:c.2350A>G, XM_017029688.3:c.2350A>C, XM_017029688.2:c.2350A>T, XM_017029688.2:c.2350A>G, XM_017029688.2:c.2350A>C, XM_017029688.1:c.2350A>T, XM_017029688.1:c.2350A>G, XM_017029688.1:c.2350A>C, XM_017029689.3:c.2152A>T, XM_017029689.3:c.2152A>G, XM_017029689.3:c.2152A>C, XM_017029689.2:c.2152A>T, XM_017029689.2:c.2152A>G, XM_017029689.2:c.2152A>C, XM_017029689.1:c.2152A>T, XM_017029689.1:c.2152A>G, XM_017029689.1:c.2152A>C, NM_020721.1:c.2833A>T, NM_020721.1:c.2833A>G, NM_020721.1:c.2833A>C, NM_001394962.1:c.2305A>T, NM_001394962.1:c.2305A>G, NM_001394962.1:c.2305A>C, XP_016885177.1:p.Ile784Phe, XP_016885177.1:p.Ile784Val, XP_016885177.1:p.Ile784Leu, XP_016885178.1:p.Ile718Phe, XP_016885178.1:p.Ile718Val, XP_016885178.1:p.Ile718Leu, NP_065772.1:p.Ile945Phe, NP_065772.1:p.Ile945Val, NP_065772.1:p.Ile945Leu, NP_001381891.1:p.Ile769Phe, NP_001381891.1:p.Ile769Val, NP_001381891.1:p.Ile769Leu

Select item 5282050913.

rs52820509 has merged into rs3761592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: X:119088397 (GRCh38)
X:118222360 (GRCh37)
Canonical SPDI:: NC_000023.11:119088396:T:A,NC_000023.11:119088396:T:C,NC_000023.11:119088396:T:G
Gene:: KIAA1210 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.025/1 (GENOME_DK)
A=0.052434/28 (MGP)
A=0.053398/198 (TWINSUK)
A=0.053998/156 (ALSPAC)
T=0.125/1 (Siberian)
A=0.163311/1590 (GoESP)
A=0.178792/18442 (GnomAD)
T=0.196629/35 (SGDP_PRJ)
A=0.231481/25 (Qatari)
A=0.278044/1050 (1000Genomes)
A=0.325/104 (HapMap)
A=0.398649/59 (Vietnamese)
A=0.454266/1331 (KOREAN)
A=0.478378/6144 (TOMMO)
HGVS:: NC_000023.11:g.119088397T>A, NC_000023.11:g.119088397T>C, NC_000023.11:g.119088397T>G, NC_000023.10:g.118222360T>A, NC_000023.10:g.118222360T>C, NC_000023.10:g.118222360T>G, XM_017029688.3:c.2350A>T, XM_017029688.3:c.2350A>G, XM_017029688.3:c.2350A>C, XM_017029688.2:c.2350A>T, XM_017029688.2:c.2350A>G, XM_017029688.2:c.2350A>C, XM_017029688.1:c.2350A>T, XM_017029688.1:c.2350A>G, XM_017029688.1:c.2350A>C, XM_017029689.3:c.2152A>T, XM_017029689.3:c.2152A>G, XM_017029689.3:c.2152A>C, XM_017029689.2:c.2152A>T, XM_017029689.2:c.2152A>G, XM_017029689.2:c.2152A>C, XM_017029689.1:c.2152A>T, XM_017029689.1:c.2152A>G, XM_017029689.1:c.2152A>C, NM_020721.1:c.2833A>T, NM_020721.1:c.2833A>G, NM_020721.1:c.2833A>C, NM_001394962.1:c.2305A>T, NM_001394962.1:c.2305A>G, NM_001394962.1:c.2305A>C, XP_016885177.1:p.Ile784Phe, XP_016885177.1:p.Ile784Val, XP_016885177.1:p.Ile784Leu, XP_016885178.1:p.Ile718Phe, XP_016885178.1:p.Ile718Val, XP_016885178.1:p.Ile718Leu, NP_065772.1:p.Ile945Phe, NP_065772.1:p.Ile945Val, NP_065772.1:p.Ile945Leu, NP_001381891.1:p.Ile769Phe, NP_001381891.1:p.Ile769Val, NP_001381891.1:p.Ile769Leu

Select item 1733591614.

rs17335916 has merged into rs3761592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: X:119088397 (GRCh38)
X:118222360 (GRCh37)
Canonical SPDI:: NC_000023.11:119088396:T:A,NC_000023.11:119088396:T:C,NC_000023.11:119088396:T:G
Gene:: KIAA1210 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.025/1 (GENOME_DK)
A=0.052434/28 (MGP)
A=0.053398/198 (TWINSUK)
A=0.053998/156 (ALSPAC)
T=0.125/1 (Siberian)
A=0.163311/1590 (GoESP)
A=0.178792/18442 (GnomAD)
T=0.196629/35 (SGDP_PRJ)
A=0.231481/25 (Qatari)
A=0.278044/1050 (1000Genomes)
A=0.325/104 (HapMap)
A=0.398649/59 (Vietnamese)
A=0.454266/1331 (KOREAN)
A=0.478378/6144 (TOMMO)
HGVS:: NC_000023.11:g.119088397T>A, NC_000023.11:g.119088397T>C, NC_000023.11:g.119088397T>G, NC_000023.10:g.118222360T>A, NC_000023.10:g.118222360T>C, NC_000023.10:g.118222360T>G, XM_017029688.3:c.2350A>T, XM_017029688.3:c.2350A>G, XM_017029688.3:c.2350A>C, XM_017029688.2:c.2350A>T, XM_017029688.2:c.2350A>G, XM_017029688.2:c.2350A>C, XM_017029688.1:c.2350A>T, XM_017029688.1:c.2350A>G, XM_017029688.1:c.2350A>C, XM_017029689.3:c.2152A>T, XM_017029689.3:c.2152A>G, XM_017029689.3:c.2152A>C, XM_017029689.2:c.2152A>T, XM_017029689.2:c.2152A>G, XM_017029689.2:c.2152A>C, XM_017029689.1:c.2152A>T, XM_017029689.1:c.2152A>G, XM_017029689.1:c.2152A>C, NM_020721.1:c.2833A>T, NM_020721.1:c.2833A>G, NM_020721.1:c.2833A>C, NM_001394962.1:c.2305A>T, NM_001394962.1:c.2305A>G, NM_001394962.1:c.2305A>C, XP_016885177.1:p.Ile784Phe, XP_016885177.1:p.Ile784Val, XP_016885177.1:p.Ile784Leu, XP_016885178.1:p.Ile718Phe, XP_016885178.1:p.Ile718Val, XP_016885178.1:p.Ile718Leu, NP_065772.1:p.Ile945Phe, NP_065772.1:p.Ile945Val, NP_065772.1:p.Ile945Leu, NP_001381891.1:p.Ile769Phe, NP_001381891.1:p.Ile769Val, NP_001381891.1:p.Ile769Leu

Select item 89749215.

rs897492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119097011 (GRCh38)
X:118230974 (GRCh37)
Canonical SPDI:: NC_000023.11:119097010:T:C
Gene:: KIAA1210 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.005907/83 (ALFA)
C=0./0 (HapMap)
T=0./0 (SGDP_PRJ)
C=0.008225/855 (GnomAD)
C=0.008791/2327 (TOPMED)
C=0.009157/35 (1000Genomes)
HGVS:: NC_000023.11:g.119097011T>C, NC_000023.10:g.118230974T>C

Select item 89749316.

rs897493 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119096632 (GRCh38)
X:118230595 (GRCh37)
Canonical SPDI:: NC_000023.11:119096631:T:C
Gene:: KIAA1210 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.026866/697 (ALFA)
C=0.00027/1 (TWINSUK)
C=0.000346/1 (ALSPAC)
C=0.001873/1 (MGP)
C=0.009259/1 (Qatari)
C=0.013883/2488 (GnomAD_exomes)
C=0.019611/1496 (ExAC)
C=0.051829/17 (HapMap)
C=0.053216/5508 (GnomAD)
C=0.056016/14827 (TOPMED)
C=0.060146/227 (1000Genomes)
C=0.06118/620 (GoESP)
T=0.15625/5 (SGDP_PRJ)
HGVS:: NC_000023.11:g.119096632T>C, NC_000023.10:g.118230595T>C, XM_017029688.3:c.753A>G, XM_017029688.2:c.753A>G, XM_017029688.1:c.753A>G, NM_020721.1:c.1128A>G, NM_001394962.1:c.708A>G

Select item 145586117.

rs1455861 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119085086 (GRCh38)
X:118219049 (GRCh37)
Canonical SPDI:: NC_000023.11:119085085:T:C
Gene:: KIAA1210 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.044128/620 (ALFA)
C=0.000539/2 (TWINSUK)
C=0.001038/3 (ALSPAC)
C=0.037037/4 (Qatari)
C=0.054318/205 (1000Genomes)
C=0.057718/6004 (GnomAD)
C=0.061547/16291 (TOPMED)
C=0.064024/21 (HapMap)
T=0.115385/3 (SGDP_PRJ)
HGVS:: NC_000023.11:g.119085086T>C, NC_000023.10:g.118219049T>C

Select item 145586418.

rs1455864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119105984 (GRCh38)
X:118239947 (GRCh37)
Canonical SPDI:: NC_000023.11:119105983:T:C
Gene:: KIAA1210 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.039502/555 (ALFA)
C=0.00027/1 (TWINSUK)
C=0.000346/1 (ALSPAC)
C=0.009259/1 (Qatari)
C=0.051829/17 (HapMap)
C=0.052734/5471 (GnomAD)
C=0.056118/14854 (TOPMED)
C=0.060146/227 (1000Genomes)
T=0.15625/5 (SGDP_PRJ)
HGVS:: NC_000023.11:g.119105984T>C, NC_000023.10:g.118239947T>C

Select item 145586519.

rs1455865 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119101595 (GRCh38)
X:118235558 (GRCh37)
Canonical SPDI:: NC_000023.11:119101594:T:C
Gene:: KIAA1210 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.007515/1709 (ALFA)
C=0./0 (PRJEB36033)
C=0.00027/1 (TWINSUK)
C=0.000346/1 (ALSPAC)
C=0.025432/53 (HGDP_Stanford)
C=0.049197/5091 (GnomAD)
C=0.052737/13959 (TOPMED)
C=0.056816/214 (1000Genomes)
C=0.149299/149 (HapMap)
T=0.166667/4 (SGDP_PRJ)
HGVS:: NC_000023.11:g.119101595T>C, NC_000023.10:g.118235558T>C

Select item 145586620.

rs1455866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119093373 (GRCh38)
X:118227336 (GRCh37)
Canonical SPDI:: NC_000023.11:119093372:G:A
Gene:: KIAA1210 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.041265/694 (ALFA)
A=0.000045/1 (TOMMO)
A=0.00027/1 (TWINSUK)
A=0.000346/1 (ALSPAC)
A=0.018519/2 (Qatari)
A=0.053804/5607 (GnomAD)
A=0.05664/14992 (TOPMED)
A=0.060562/229 (1000Genomes)
G=0.15625/5 (SGDP_PRJ)
A=0.171053/169 (HapMap)
HGVS:: NC_000023.11:g.119093373G>A, NC_000023.10:g.118227336G>A

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