"human"[ORGN] and XRCC2 - SNP

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Select item 21067761.

rs2106776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:152675839 (GRCh38)
7:152372924 (GRCh37)
Canonical SPDI:: NC_000007.14:152675838:G:A
Gene:: XRCC2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.448486/8471 (ALFA)
A=0.245633/450 (Korea1K)
A=0.258192/4327 (TOMMO)
A=0.261905/55 (Vietnamese)
A=0.262978/770 (KOREAN)
G=0.307692/8 (Siberian)
G=0.340909/105 (SGDP_PRJ)
A=0.4/16 (GENOME_DK)
A=0.403082/1805 (Estonian)
A=0.403333/242 (NorthernSweden)
A=0.415832/415 (GoNL)
A=0.432278/1666 (ALSPAC)
A=0.445034/2229 (1000Genomes)
A=0.445254/1651 (TWINSUK)
A=0.463221/122610 (TOPMED)
A=0.46605/65179 (GnomAD)
A=0.490741/106 (Qatari)
HGVS:: NC_000007.14:g.152675839G>A, NC_000007.13:g.152372924G>A, NG_027988.2:g.5327C>T

PubMed

Select item 32183822.

rs3218382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:152676331 (GRCh38)
7:152373416 (GRCh37)
Canonical SPDI:: NC_000007.14:152676330:G:A,NC_000007.14:152676330:G:T
Gene:: XRCC2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.032177/566 (ALFA)
A=0.000342/1 (KOREAN)
A=0.05/2 (GENOME_DK)
A=0.052623/264 (1000Genomes)
A=0.053801/7548 (GnomAD)
A=0.062277/279 (Estonian)
A=0.081993/316 (ALSPAC)
A=0.083333/18 (Qatari)
A=0.085491/317 (TWINSUK)
A=0.091667/55 (NorthernSweden)
G=0.458333/22 (SGDP_PRJ)
G=0.5/3 (Siberian)
HGVS:: NC_000007.14:g.152676331G>A, NC_000007.14:g.152676331G>T, NC_000007.13:g.152373416G>A, NC_000007.13:g.152373416G>T, NG_027988.2:g.4835C>T, NG_027988.2:g.4835C>A

Select item 32183843.

rs3218384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:152676167 (GRCh38)
7:152373252 (GRCh37)
Canonical SPDI:: NC_000007.14:152676166:C:A,NC_000007.14:152676166:C:G,NC_000007.14:152676166:C:T
Gene:: XRCC2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.112769/1738 (ALFA)
G=0.116993/1961 (TOMMO)
G=0.125/27 (Qatari)
G=0.125843/224 (Korea1K)
G=0.132959/71 (MGP)
G=0.141006/706 (1000Genomes)
G=0.146333/427 (KOREAN)
G=0.170372/23894 (GnomAD)
G=0.174528/37 (Vietnamese)
G=0.21/126 (NorthernSweden)
G=0.21575/800 (TWINSUK)
G=0.222885/859 (ALSPAC)
G=0.226339/1014 (Estonian)
G=0.3/12 (GENOME_DK)
C=0.3125/5 (Siberian)
C=0.429577/61 (SGDP_PRJ)
HGVS:: NC_000007.14:g.152676167C>A, NC_000007.14:g.152676167C>G, NC_000007.14:g.152676167C>T, NC_000007.13:g.152373252C>A, NC_000007.13:g.152373252C>G, NC_000007.13:g.152373252C>T, NG_027988.2:g.4999G>T, NG_027988.2:g.4999G>C, NG_027988.2:g.4999G>A

PubMed LitVar

Select item 32183854.

rs3218385 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:152676148 (GRCh38)
7:152373233 (GRCh37)
Canonical SPDI:: NC_000007.14:152676147:A:C
Gene:: XRCC2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.054255/3008 (ALFA)
C=0.020599/11 (MGP)
C=0.021667/13 (NorthernSweden)
C=0.040477/156 (ALSPAC)
C=0.041082/41 (GoNL)
C=0.044196/198 (Estonian)
C=0.045847/170 (TWINSUK)
C=0.046296/10 (Qatari)
C=0.047491/796 (TOMMO)
C=0.05/2 (GENOME_DK)
C=0.052124/238 (GoESP)
C=0.055215/18 (HapMap)
C=0.062156/8698 (GnomAD)
C=0.06726/17803 (TOPMED)
C=0.079775/142 (Korea1K)
C=0.083229/417 (1000Genomes)
C=0.086466/253 (KOREAN)
C=0.228571/48 (Vietnamese)
A=0.469697/31 (SGDP_PRJ)
HGVS:: NC_000007.14:g.152676148A>C, NC_000007.13:g.152373233A>C, NG_027988.2:g.5018T>G, NM_005431.1:c.-69T>G

PubMed

Select item 32183875.

rs3218387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:152675731 (GRCh38)
7:152372816 (GRCh37)
Canonical SPDI:: NC_000007.14:152675730:C:G
Gene:: XRCC2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.050609/956 (ALFA)
G=0.021667/13 (NorthernSweden)
G=0.037037/8 (Qatari)
G=0.040218/155 (ALSPAC)
G=0.041082/41 (GoNL)
G=0.044196/198 (Estonian)
G=0.046117/171 (TWINSUK)
G=0.047491/796 (TOMMO)
G=0.05/2 (GENOME_DK)
G=0.05164/7241 (GnomAD)
G=0.056322/14908 (TOPMED)
G=0.072299/362 (1000Genomes)
G=0.086689/254 (KOREAN)
G=0.235849/50 (Vietnamese)
C=0.466667/28 (SGDP_PRJ)
HGVS:: NC_000007.14:g.152675731C>G, NC_000007.13:g.152372816C>G, NG_027988.2:g.5435G>C

Select item 32184726.

rs3218472 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:152660792 (GRCh38)
7:152357877 (GRCh37)
Canonical SPDI:: NC_000007.14:152660791:G:A
Gene:: XRCC2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.007758/325 (ALFA)
A=0.001888/7 (TWINSUK)
A=0.002076/8 (ALSPAC)
A=0.003006/3 (GoNL)
A=0.006579/2 (FINRISK)
A=0.006924/823 (ExAC)
A=0.006998/1671 (GnomAD_exomes)
A=0.007845/102 (GoESP)
A=0.009994/50 (1000Genomes)
A=0.010554/1480 (GnomAD)
A=0.011028/2919 (TOPMED)
A=0.014732/66 (Estonian)
A=0.027778/6 (Qatari)
G=0.454545/10 (SGDP_PRJ)
HGVS:: NC_000007.14:g.152660792G>A, NC_000007.13:g.152357877G>A, NG_027988.2:g.20374C>T

PubMed LitVar

Select item 32184757.

rs3218475 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:152660543 (GRCh38)
7:152357628 (GRCh37)
Canonical SPDI:: NC_000007.14:152660542:A:C
Gene:: XRCC2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.018863/272 (ALFA)
C=0.001002/1 (GoNL)
C=0.013889/3 (Qatari)
C=0.023703/3325 (GnomAD)
C=0.025298/6696 (TOPMED)
C=0.028888/145 (1000Genomes)
A=0.5/5 (SGDP_PRJ)
HGVS:: NC_000007.14:g.152660543A>C, NC_000007.13:g.152357628A>C, NG_027988.2:g.20623T>G

Select item 32185358.

rs3218535 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:152649533 (GRCh38)
7:152346618 (GRCh37)
Canonical SPDI:: NC_000007.14:152649532:T:C,NC_000007.14:152649532:T:G
Gene:: XRCC2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.003159/410 (ALFA)
C=0./0 (PRJEB36033)
C=0./0 (TWINSUK)
C=0.000259/1 (ALSPAC)
C=0.005278/11 (HGDP_Stanford)
C=0.013889/3 (Qatari)
C=0.021081/106 (1000Genomes)
C=0.04/44 (HapMap)
T=0.5/5 (SGDP_PRJ)
HGVS:: NC_000007.14:g.152649533T>C, NC_000007.14:g.152649533T>G, NC_000007.13:g.152346618T>C, NC_000007.13:g.152346618T>G, NG_027988.2:g.31633A>G, NG_027988.2:g.31633A>C

Select item 32185369.

rs3218536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:152648922 (GRCh38)
7:152346007 (GRCh37)
Canonical SPDI:: NC_000007.14:152648921:C:A,NC_000007.14:152648921:C:G,NC_000007.14:152648921:C:T
Gene:: XRCC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000342/1 (KOREAN)
T=0.031626/2489 (PAGE_STUDY)
T=0.046053/14 (FINRISK)
T=0.047505/99 (HGDP_Stanford)
T=0.05/2 (GENOME_DK)
T=0.05075/254 (1000Genomes)
T=0.05582/726 (GoESP)
T=0.061161/274 (Estonian)
T=0.061417/78 (HapMap)
T=0.065533/7955 (ExAC)
T=0.07515/75 (GoNL)
T=0.081733/315 (ALSPAC)
T=0.083333/18 (Qatari)
T=0.08422/95 (Daghestan)
T=0.085491/317 (TWINSUK)
T=0.090909/8 (PRJEB36033)
T=0.091667/55 (NorthernSweden)
T=0.093633/50 (MGP)
C=0.47619/20 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000007.14:g.152648922C>A, NC_000007.14:g.152648922C>G, NC_000007.14:g.152648922C>T, NC_000007.13:g.152346007C>A, NC_000007.13:g.152346007C>G, NC_000007.13:g.152346007C>T, NG_027988.2:g.32244G>T, NG_027988.2:g.32244G>C, NG_027988.2:g.32244G>A, NM_005431.2:c.563G>T, NM_005431.2:c.563G>C, NM_005431.2:c.563G>A, NM_005431.1:c.563G>T, NM_005431.1:c.563G>C, NM_005431.1:c.563G>A, NP_005422.1:p.Arg188Leu, NP_005422.1:p.Arg188Pro, NP_005422.1:p.Arg188His

PubMed LitVar

Select item 321853710.

rs3218537 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:152648823 (GRCh38)
7:152345908 (GRCh37)
Canonical SPDI:: NC_000007.14:152648822:A:G
Gene:: XRCC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000121/3 (ALFA)
G=0./0 (HapMap)
G=0.000052/13 (GnomAD_exomes)
G=0.000058/7 (ExAC)
G=0.000132/35 (TOPMED)
G=0.000154/2 (GoESP)
G=0.000164/23 (GnomAD)
G=0.000342/1 (KOREAN)
G=0.000625/3 (1000Genomes)
HGVS:: NC_000007.14:g.152648823A>G, NC_000007.13:g.152345908A>G, NG_027988.2:g.32343T>C, NM_005431.2:c.662T>C, NM_005431.1:c.662T>C, NP_005422.1:p.Ile221Thr

Select item 321853811.

rs3218538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:152648786 (GRCh38)
7:152345871 (GRCh37)
Canonical SPDI:: NC_000007.14:152648785:T:C
Gene:: XRCC2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (HapMap)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.152648786T>C, NC_000007.13:g.152345871T>C, NG_027988.2:g.32380A>G, NM_005431.2:c.699A>G, NM_005431.1:c.699A>G

Select item 321853912.

rs3218539 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:152648641 (GRCh38)
7:152345726 (GRCh37)
Canonical SPDI:: NC_000007.14:152648640:A:G,NC_000007.14:152648640:A:T
Gene:: XRCC2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.012038/382 (ALFA)
G=0./0 (TWINSUK)
G=0.000223/1 (Estonian)
G=0.000519/2 (ALSPAC)
G=0.001002/1 (GoNL)
G=0.001873/1 (MGP)
G=0.00463/1 (Qatari)
G=0.053615/697 (GoESP)
G=0.054185/271 (1000Genomes)
G=0.058359/15447 (TOPMED)
G=0.092184/92 (HapMap)
A=0.416667/10 (SGDP_PRJ)
HGVS:: NC_000007.14:g.152648641A>G, NC_000007.14:g.152648641A>T, NC_000007.13:g.152345726A>G, NC_000007.13:g.152345726A>T, NG_027988.2:g.32525T>C, NG_027988.2:g.32525T>A, NM_005431.2:c.*1T>C, NM_005431.2:c.*1T>A, NM_005431.1:c.*1T>C, NM_005431.1:c.*1T>A

Select item 321854013.

rs3218540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:152648602 (GRCh38)
7:152345687 (GRCh37)
Canonical SPDI:: NC_000007.14:152648601:C:G
Gene:: XRCC2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.003785/88 (ALFA)
G=0.002519/252 (ExAC)
G=0.002628/464 (GnomAD_exomes)
G=0.006098/2 (HapMap)
G=0.00812/41 (1000Genomes)
G=0.008441/108 (GoESP)
G=0.009021/1264 (GnomAD)
G=0.009041/2393 (TOPMED)
G=0.018519/4 (Qatari)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000007.14:g.152648602C>G, NC_000007.13:g.152345687C>G, NG_027988.2:g.32564G>C, NM_005431.2:c.*40G>C, NM_005431.1:c.*40G>C

Select item 321854114.

rs3218541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:152648459 (GRCh38)
7:152345544 (GRCh37)
Canonical SPDI:: NC_000007.14:152648458:G:A,NC_000007.14:152648458:G:C
Gene:: XRCC2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.01189/213 (ALFA)
A=0.001888/7 (TWINSUK)
A=0.002335/9 (ALSPAC)
A=0.004008/4 (GoNL)
A=0.009259/2 (Qatari)
A=0.015179/68 (Estonian)
A=0.064022/321 (1000Genomes)
A=0.064876/9012 (GnomAD)
A=0.068983/18259 (TOPMED)
G=0.431818/19 (SGDP_PRJ)
HGVS:: NC_000007.14:g.152648459G>A, NC_000007.14:g.152648459G>C, NC_000007.13:g.152345544G>A, NC_000007.13:g.152345544G>C, NG_027988.2:g.32707C>T, NG_027988.2:g.32707C>G, NM_005431.2:c.*183C>T, NM_005431.2:c.*183C>G, NM_005431.1:c.*183C>T, NM_005431.1:c.*183C>G

Select item 321855315.

rs3218553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:152646717 (GRCh38)
7:152343802 (GRCh37)
Canonical SPDI:: NC_000007.14:152646716:T:C,NC_000007.14:152646716:T:G
Gene:: XRCC2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00226/42 (ALFA)
G=0.00004/1 (TOMMO)
G=0.00781/39 (1000Genomes)
G=0.00826/37 (Estonian)
G=0.00902/9 (GoNL)
G=0.01167/7 (NorthernSweden)
G=0.01212/4 (HapMap)
G=0.01456/54 (TWINSUK)
G=0.01635/63 (ALSPAC)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.152646717T>C, NC_000007.14:g.152646717T>G, NC_000007.13:g.152343802T>C, NC_000007.13:g.152343802T>G, NG_027988.2:g.34449A>G, NG_027988.2:g.34449A>C, NM_005431.2:c.*1925A>G, NM_005431.2:c.*1925A>C, NM_005431.1:c.*1925A>G, NM_005431.1:c.*1925A>C

Select item 498709016.

rs4987090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:152660776 (GRCh38)
7:152357861 (GRCh37)
Canonical SPDI:: NC_000007.14:152660775:C:A,NC_000007.14:152660775:C:G
Gene:: XRCC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00004/4 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000077/1 (GoESP)
A=0.007415/7 (HapMap)
HGVS:: NC_000007.14:g.152660776C>A, NC_000007.14:g.152660776C>G, NC_000007.13:g.152357861C>A, NC_000007.13:g.152357861C>G, NG_027988.2:g.20390G>T, NG_027988.2:g.20390G>C, NM_005431.2:c.46G>T, NM_005431.2:c.46G>C, NM_005431.1:c.46G>T, NM_005431.1:c.46G>C, NP_005422.1:p.Ala16Ser, NP_005422.1:p.Ala16Pro

Select item 1070764217.

rs10707642 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 7:152648422 (GRCh38)
7:152345507 (GRCh37)
Canonical SPDI:: NC_000007.14:152648413:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:152648413:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:152648413:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:152648413:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:152648413:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:152648413:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:152648413:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: XRCC2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.152648422_152648428del, NC_000007.14:g.152648425_152648428del, NC_000007.14:g.152648426_152648428del, NC_000007.14:g.152648427_152648428del, NC_000007.14:g.152648428del, NC_000007.14:g.152648428dup, NC_000007.14:g.152648427_152648428dup, NC_000007.13:g.152345507_152345513del, NC_000007.13:g.152345510_152345513del, NC_000007.13:g.152345511_152345513del, NC_000007.13:g.152345512_152345513del, NC_000007.13:g.152345513del, NC_000007.13:g.152345513dup, NC_000007.13:g.152345512_152345513dup, NG_027988.2:g.32746_32752del, NG_027988.2:g.32749_32752del, NG_027988.2:g.32750_32752del, NG_027988.2:g.32751_32752del, NG_027988.2:g.32752del, NG_027988.2:g.32752dup, NG_027988.2:g.32751_32752dup, NM_005431.2:c.*222_*228del, NM_005431.2:c.*225_*228del, NM_005431.2:c.*226_*228del, NM_005431.2:c.*227_*228del, NM_005431.2:c.*228del, NM_005431.2:c.*228dup, NM_005431.2:c.*227_*228dup, NM_005431.1:c.*222_*228del, NM_005431.1:c.*225_*228del, NM_005431.1:c.*226_*228del, NM_005431.1:c.*227_*228del, NM_005431.1:c.*228del, NM_005431.1:c.*228dup, NM_005431.1:c.*227_*228dup

Select item 4127499118.

rs41274991 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:152660798 (GRCh38)
7:152357883 (GRCh37)
Canonical SPDI:: NC_000007.14:152660797:A:G
Gene:: XRCC2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001837/43 (ALFA)
G=0.001093/5 (1000Genomes)
G=0.001183/140 (ExAC)
G=0.001231/16 (GoESP)
G=0.001387/326 (GnomAD_exomes)
G=0.001411/198 (GnomAD)
G=0.001609/426 (TOPMED)
G=0.002157/8 (TWINSUK)
G=0.003006/3 (GoNL)
G=0.003114/12 (ALSPAC)
G=0.00463/1 (Qatari)
G=0.005618/3 (MGP)
HGVS:: NC_000007.14:g.152660798A>G, NC_000007.13:g.152357883A>G, NG_027988.2:g.20368T>C

Select item 5577153719.

rs55771537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:152675850 (GRCh38)
7:152372935 (GRCh37)
Canonical SPDI:: NC_000007.14:152675849:G:A
Gene:: XRCC2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.003259/47 (ALFA)
A=0.001874/9 (1000Genomes)
A=0.004209/590 (GnomAD)
A=0.004481/1186 (TOPMED)
A=0.00463/1 (Qatari)
HGVS:: NC_000007.14:g.152675850G>A, NC_000007.13:g.152372935G>A, NG_027988.2:g.5316C>T

Select item 5610302620.

rs56103026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:152648872 (GRCh38)
7:152345957 (GRCh37)
Canonical SPDI:: NC_000007.14:152648871:A:C
Gene:: XRCC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000024/6 (GnomAD_exomes)
C=0.000025/3 (ExAC)
C=0.000171/24 (GnomAD)
C=0.000189/50 (TOPMED)
C=0.000308/4 (GoESP)
HGVS:: NC_000007.14:g.152648872A>C, NC_000007.13:g.152345957A>C, NG_027988.2:g.32294T>G, NM_005431.2:c.613T>G, NM_005431.1:c.613T>G, NP_005422.1:p.Ser205Ala

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