RSPH3 - SNP

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Select item 7689941.

rs768994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:158978316 (GRCh38)
6:159399348 (GRCh37)
Canonical SPDI:: NC_000006.12:158978315:A:G
Gene:: RSPH3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.099153/30185 (ALFA)
G=0.067857/304 (Estonian)
G=0.072368/22 (FINRISK)
G=0.072816/270 (TWINSUK)
G=0.073034/39 (MGP)
G=0.074148/74 (GoNL)
G=0.07853/1019 (GoESP)
G=0.081474/314 (ALSPAC)
G=0.1/4 (GENOME_DK)
G=0.103297/14474 (GnomAD)
G=0.125/142 (Daghestan)
G=0.125/75 (NorthernSweden)
G=0.129805/34358 (TOPMED)
G=0.138889/30 (Qatari)
G=0.168328/18943 (ExAC)
G=0.16932/41942 (GnomAD_exomes)
G=0.173936/327 (HapMap)
G=0.192224/963 (1000Genomes)
G=0.216446/17033 (PAGE_STUDY)
G=0.328431/201 (Vietnamese)
A=0.362069/84 (SGDP_PRJ)
A=0.363636/8 (Siberian)
G=0.423077/330 (PRJEB37584)
A=0.472114/7913 (TOMMO)
G=0.481229/1410 (KOREAN)
G=0.485262/889 (Korea1K)
HGVS:: NC_000006.12:g.158978316A>G, NC_000006.11:g.159399348A>G, NG_051819.1:g.26872T>C, NM_031924.8:c.890T>C, NM_031924.7:c.1316T>C, NM_031924.6:c.1316T>C, NM_031924.5:c.1316T>C, NM_031924.4:c.1316T>C, NM_001346418.1:c.1028T>C, NR_144434.1:n.1527T>C, XR_001743668.3:n.1542T>C, XR_001743668.2:n.1766T>C, XR_001743668.1:n.1772T>C, XR_001743670.3:n.1254T>C, XR_001743670.2:n.1478T>C, XR_001743670.1:n.1484T>C, XM_047419393.1:c.500T>C, NP_114130.4:p.Met297Thr, NP_001333347.1:p.Met343Thr, XP_047275349.1:p.Met167Thr

Select item 21436502.

rs2143650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:158983955 (GRCh38)
6:159404987 (GRCh37)
Canonical SPDI:: NC_000006.12:158983954:G:A
Gene:: RSPH3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.021211/346 (ALFA)
A=0.06808/305 (Estonian)
A=0.074148/74 (GoNL)
A=0.074434/276 (TWINSUK)
A=0.082252/317 (ALSPAC)
A=0.1/4 (GENOME_DK)
A=0.105297/14739 (GnomAD)
A=0.132056/34954 (TOPMED)
A=0.136667/82 (NorthernSweden)
A=0.138889/30 (Qatari)
A=0.194097/972 (1000Genomes)
A=0.345794/74 (Vietnamese)
G=0.363636/8 (Siberian)
G=0.365546/87 (SGDP_PRJ)
G=0.472079/7912 (TOMMO)
A=0.480205/1407 (KOREAN)
A=0.485808/890 (Korea1K)
HGVS:: NC_000006.12:g.158983955G>A, NC_000006.11:g.159404987G>A, NG_051819.1:g.21233C>T

Select item 21436513.

rs2143651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:158983830 (GRCh38)
6:159404862 (GRCh37)
Canonical SPDI:: NC_000006.12:158983829:C:A,NC_000006.12:158983829:C:T
Gene:: RSPH3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.111936/3740 (ALFA)
T=0.061798/33 (MGP)
T=0.086161/386 (Estonian)
T=0.091182/91 (GoNL)
T=0.09466/351 (TWINSUK)
T=0.095395/29 (FINRISK)
T=0.1/4 (GENOME_DK)
T=0.101953/1326 (GoESP)
T=0.105086/405 (ALSPAC)
T=0.124282/17400 (GnomAD)
T=0.14/84 (NorthernSweden)
T=0.150569/39854 (TOPMED)
T=0.157407/34 (Qatari)
T=0.176646/20900 (ExAC)
T=0.2/378 (HapMap)
T=0.209869/1051 (1000Genomes)
T=0.331158/203 (Vietnamese)
C=0.363636/8 (Siberian)
C=0.364754/89 (SGDP_PRJ)
C=0.472149/7913 (TOMMO)
T=0.480546/1408 (KOREAN)
T=0.485262/889 (Korea1K)
HGVS:: NC_000006.12:g.158983830C>A, NC_000006.12:g.158983830C>T, NC_000006.11:g.159404862C>A, NC_000006.11:g.159404862C>T, NG_051819.1:g.21358G>T, NG_051819.1:g.21358G>A

Select item 37569874.

rs3756987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:158977668 (GRCh38)
6:159398700 (GRCh37)
Canonical SPDI:: NC_000006.12:158977667:C:T
Gene:: RSPH3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.118377/43042 (ALFA)
T=0.025/2 (PRJEB36033)
T=0.085714/384 (Estonian)
T=0.09018/90 (GoNL)
T=0.094391/350 (TWINSUK)
T=0.095395/29 (FINRISK)
T=0.097378/52 (MGP)
T=0.1/4 (GENOME_DK)
T=0.10226/1330 (GoESP)
T=0.104567/403 (ALSPAC)
T=0.124061/17376 (GnomAD)
T=0.14/84 (NorthernSweden)
T=0.150546/39848 (TOPMED)
T=0.151327/171 (Daghestan)
T=0.157407/34 (Qatari)
T=0.175406/21295 (ExAC)
T=0.188023/47260 (GnomAD_exomes)
T=0.200317/379 (HapMap)
T=0.209869/1051 (1000Genomes)
T=0.232617/18306 (PAGE_STUDY)
T=0.256718/535 (HGDP_Stanford)
C=0.363636/8 (Siberian)
C=0.364754/89 (SGDP_PRJ)
T=0.421594/328 (PRJEB37584)
C=0.472114/7913 (TOMMO)
T=0.476038/298 (Chileans)
T=0.48157/1411 (KOREAN)
T=0.485262/889 (Korea1K)
HGVS:: NC_000006.12:g.158977668C>T, NC_000006.11:g.159398700C>T, NG_051819.1:g.27520G>A, NM_031924.8:c.1127G>A, NM_031924.7:c.1553G>A, NM_031924.6:c.1553G>A, NM_031924.5:c.1553G>A, NM_031924.4:c.1553G>A, NM_001346418.1:c.1265G>A, NR_144434.1:n.1764G>A, XR_001743668.3:n.1779G>A, XR_001743668.2:n.2003G>A, XR_001743668.1:n.2009G>A, XR_001743670.3:n.1491G>A, XR_001743670.2:n.1715G>A, XR_001743670.1:n.1721G>A, XM_047419393.1:c.737G>A, NP_114130.4:p.Gly376Asp, NP_001333347.1:p.Gly422Asp, XP_047275349.1:p.Gly246Asp

Select item 37569885.

rs3756988 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:158977601 (GRCh38)
6:159398633 (GRCh37)
Canonical SPDI:: NC_000006.12:158977600:T:C
Gene:: RSPH3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.120702/28930 (ALFA)
C=0./0 (PRJEB36033)
C=0.086161/386 (Estonian)
C=0.09018/90 (GoNL)
C=0.09466/351 (TWINSUK)
C=0.095395/29 (FINRISK)
C=0.097378/52 (MGP)
C=0.1/4 (GENOME_DK)
C=0.10226/1330 (GoESP)
C=0.105086/405 (ALSPAC)
C=0.124079/17379 (GnomAD)
C=0.14/84 (NorthernSweden)
C=0.150553/39850 (TOPMED)
C=0.157407/34 (Qatari)
C=0.175451/21297 (ExAC)
C=0.18786/47187 (GnomAD_exomes)
C=0.198834/375 (HapMap)
C=0.209869/1051 (1000Genomes)
C=0.256718/535 (HGDP_Stanford)
C=0.331169/204 (Vietnamese)
T=0.363636/8 (Siberian)
T=0.364754/89 (SGDP_PRJ)
T=0.472149/7913 (TOMMO)
C=0.476038/298 (Chileans)
C=0.481229/1410 (KOREAN)
C=0.484716/888 (Korea1K)
HGVS:: NC_000006.12:g.158977601T>C, NC_000006.11:g.159398633T>C, NG_051819.1:g.27587A>G, NM_031924.8:c.1194A>G, NM_031924.7:c.1620A>G, NM_031924.6:c.1620A>G, NM_031924.5:c.1620A>G, NM_031924.4:c.1620A>G, NM_001346418.1:c.1332A>G, NR_144434.1:n.1831A>G, XR_001743668.3:n.1846A>G, XR_001743668.2:n.2070A>G, XR_001743668.1:n.2076A>G, XR_001743670.3:n.1558A>G, XR_001743670.2:n.1782A>G, XR_001743670.1:n.1788A>G, XM_047419393.1:c.804A>G

Select item 104558376.

rs10455837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:158978634 (GRCh38)
6:159399666 (GRCh37)
Canonical SPDI:: NC_000006.12:158978633:A:G
Gene:: RSPH3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.164637/3110 (ALFA)
G=0.089286/400 (Estonian)
G=0.096192/96 (GoNL)
G=0.097357/361 (TWINSUK)
G=0.1/4 (GENOME_DK)
G=0.107421/414 (ALSPAC)
G=0.171667/103 (NorthernSweden)
G=0.199074/43 (Qatari)
G=0.214871/30079 (GnomAD)
G=0.244002/64585 (TOPMED)
G=0.297783/1491 (1000Genomes)
G=0.339623/72 (Vietnamese)
A=0.342466/100 (SGDP_PRJ)
A=0.384615/10 (Siberian)
A=0.472397/7917 (TOMMO)
G=0.481216/1409 (KOREAN)
G=0.485262/889 (Korea1K)
HGVS:: NC_000006.12:g.158978634A>G, NC_000006.11:g.159399666A>G, NG_051819.1:g.26554T>C

Select item 104558387.

rs10455838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:158980555 (GRCh38)
6:159401587 (GRCh37)
Canonical SPDI:: NC_000006.12:158980554:A:C
Gene:: RSPH3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.019958/377 (ALFA)
C=0.015/9 (NorthernSweden)
C=0.015303/77 (1000Genomes)
C=0.016032/16 (GoNL)
C=0.017938/4748 (TOPMED)
C=0.01821/2554 (GnomAD)
C=0.018304/82 (Estonian)
C=0.018519/4 (Qatari)
C=0.021036/78 (TWINSUK)
C=0.023612/91 (ALSPAC)
A=0.5/4 (SGDP_PRJ)
HGVS:: NC_000006.12:g.158980555A>C, NC_000006.11:g.159401587A>C, NG_051819.1:g.24633T>G

Select item 104558408.

rs10455840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:158980866 (GRCh38)
6:159401898 (GRCh37)
Canonical SPDI:: NC_000006.12:158980865:C:T
Gene:: RSPH3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.022064/4874 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000684/2 (KOREAN)
T=0.001263/1 (PRJEB37584)
T=0.011894/936 (PAGE_STUDY)
T=0.015/9 (NorthernSweden)
T=0.015303/77 (1000Genomes)
T=0.016032/16 (GoNL)
T=0.01669/2026 (ExAC)
T=0.016746/4211 (GnomAD_exomes)
T=0.017927/4745 (TOPMED)
T=0.018189/2550 (GnomAD)
T=0.018304/82 (Estonian)
T=0.018519/4 (Qatari)
T=0.020068/261 (GoESP)
T=0.021305/79 (TWINSUK)
T=0.022364/14 (Chileans)
T=0.023026/7 (FINRISK)
T=0.023612/91 (ALSPAC)
T=0.024345/13 (MGP)
T=0.025436/35 (HapMap)
T=0.027337/31 (Daghestan)
C=0.5/4 (SGDP_PRJ)
HGVS:: NC_000006.12:g.158980866C>T, NC_000006.11:g.159401898C>T, NG_051819.1:g.24322G>A, NM_031924.8:c.767G>A, NM_031924.7:c.1193G>A, NM_031924.6:c.1193G>A, NM_031924.5:c.1193G>A, NM_031924.4:c.1193G>A, NM_001346418.1:c.905G>A, NR_144434.1:n.1404G>A, XR_001743668.3:n.1419G>A, XR_001743668.2:n.1643G>A, XR_001743668.1:n.1649G>A, XR_001743670.3:n.1131G>A, XR_001743670.2:n.1355G>A, XR_001743670.1:n.1361G>A, XM_047419393.1:c.377G>A, NP_114130.4:p.Arg256Gln, NP_001333347.1:p.Arg302Gln, XP_047275349.1:p.Arg126Gln

LitVar

Select item 109455879.

rs10945587 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:158999542 (GRCh38)
6:159420574 (GRCh37)
Canonical SPDI:: NC_000006.12:158999541:T:C,NC_000006.12:158999541:T:G
Gene:: RSPH3 (Varview), TAGAP-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.153639/10111 (ALFA)
C=0.016667/2 (HapMap)
C=0.031835/17 (MGP)
C=0.1/4 (GENOME_DK)
C=0.108036/484 (Estonian)
C=0.112224/112 (GoNL)
C=0.117314/435 (TWINSUK)
C=0.130254/502 (ALSPAC)
C=0.138158/42 (FINRISK)
C=0.186667/112 (NorthernSweden)
C=0.217593/47 (Qatari)
C=0.226126/2941 (GoESP)
C=0.232751/27015 (ExAC)
C=0.26811/70966 (TOPMED)
C=0.323704/1621 (1000Genomes)
T=0.338816/103 (SGDP_PRJ)
T=0.384615/10 (Siberian)
T=0.472002/7909 (TOMMO)
C=0.480874/1408 (KOREAN)
C=0.485808/890 (Korea1K)
HGVS:: NC_000006.12:g.158999542T>C, NC_000006.12:g.158999542T>G, NC_000006.11:g.159420574T>C, NC_000006.11:g.159420574T>G, NG_051819.1:g.5646A>G, NG_051819.1:g.5646A>C, NM_031924.8:c.9A>G, NM_031924.8:c.9A>C, NM_031924.7:c.435A>G, NM_031924.7:c.435A>C, NM_031924.6:c.435A>G, NM_031924.6:c.435A>C, NM_031924.5:c.435A>G, NM_031924.5:c.435A>C, NM_031924.4:c.435A>G, NM_031924.4:c.435A>C, NM_001346418.1:c.435A>G, NM_001346418.1:c.435A>C, NR_144434.1:n.646A>G, NR_144434.1:n.646A>C, XR_001743668.3:n.661A>G, XR_001743668.3:n.661A>C, XR_001743668.2:n.885A>G, XR_001743668.2:n.885A>C, XR_001743668.1:n.891A>G, XR_001743668.1:n.891A>C, XR_001743670.3:n.661A>G, XR_001743670.3:n.661A>C, XR_001743670.2:n.885A>G, XR_001743670.2:n.885A>C, XR_001743670.1:n.891A>G, XR_001743670.1:n.891A>C

Select item 1219083910.

rs12190839 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:158981205 (GRCh38)
6:159402237 (GRCh37)
Canonical SPDI:: NC_000006.12:158981204:A:G
Gene:: RSPH3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.019958/377 (ALFA)
G=0.015/9 (NorthernSweden)
G=0.015303/77 (1000Genomes)
G=0.016032/16 (GoNL)
G=0.01793/4746 (TOPMED)
G=0.018187/2551 (GnomAD)
G=0.018304/82 (Estonian)
G=0.018519/4 (Qatari)
G=0.020766/77 (TWINSUK)
G=0.023612/91 (ALSPAC)
A=0.5/4 (SGDP_PRJ)
HGVS:: NC_000006.12:g.158981205A>G, NC_000006.11:g.159402237A>G, NG_051819.1:g.23983T>C

Select item 1219102211.

rs12191022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:158977732 (GRCh38)
6:159398764 (GRCh37)
Canonical SPDI:: NC_000006.12:158977731:G:A
Gene:: RSPH3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.087799/5833 (ALFA)
A=0.058052/31 (MGP)
A=0.067857/304 (Estonian)
A=0.072368/22 (FINRISK)
A=0.073625/273 (TWINSUK)
A=0.074148/74 (GoNL)
A=0.081474/314 (ALSPAC)
A=0.082193/1069 (GoESP)
A=0.1/4 (GENOME_DK)
A=0.105901/14837 (GnomAD)
A=0.125/75 (NorthernSweden)
A=0.132638/35108 (TOPMED)
A=0.138889/30 (Qatari)
A=0.158784/19276 (ExAC)
A=0.171329/43071 (GnomAD_exomes)
A=0.181818/344 (HapMap)
A=0.194566/974 (1000Genomes)
A=0.330619/203 (Vietnamese)
G=0.363636/8 (Siberian)
G=0.365546/87 (SGDP_PRJ)
G=0.472149/7913 (TOMMO)
A=0.480887/1409 (KOREAN)
A=0.484716/888 (Korea1K)
HGVS:: NC_000006.12:g.158977732G>A, NC_000006.11:g.159398764G>A, NG_051819.1:g.27456C>T, NM_031924.8:c.1063C>T, NM_031924.7:c.1489C>T, NM_031924.6:c.1489C>T, NM_031924.5:c.1489C>T, NM_031924.4:c.1489C>T, NM_001346418.1:c.1201C>T, NR_144434.1:n.1700C>T, XR_001743668.3:n.1715C>T, XR_001743668.2:n.1939C>T, XR_001743668.1:n.1945C>T, XR_001743670.3:n.1427C>T, XR_001743670.2:n.1651C>T, XR_001743670.1:n.1657C>T, XM_047419393.1:c.673C>T

Select item 1220431112.

rs12204311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:158982906 (GRCh38)
6:159403938 (GRCh37)
Canonical SPDI:: NC_000006.12:158982905:C:T
Gene:: RSPH3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.113393/2142 (ALFA)
T=0.086161/386 (Estonian)
T=0.09018/90 (GoNL)
T=0.09466/351 (TWINSUK)
T=0.1/4 (GENOME_DK)
T=0.105086/405 (ALSPAC)
T=0.124264/17394 (GnomAD)
T=0.14/84 (NorthernSweden)
T=0.15061/39865 (TOPMED)
T=0.162037/35 (Qatari)
T=0.209869/1051 (1000Genomes)
C=0.363636/8 (Siberian)
C=0.364754/89 (SGDP_PRJ)
C=0.472079/7912 (TOMMO)
T=0.480887/1409 (KOREAN)
T=0.485262/889 (Korea1K)
HGVS:: NC_000006.12:g.158982906C>T, NC_000006.11:g.159403938C>T, NG_051819.1:g.22282G>A

Select item 1220482613.

rs12204826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:158977771 (GRCh38)
6:159398803 (GRCh37)
Canonical SPDI:: NC_000006.12:158977770:C:A,NC_000006.12:158977770:C:T
Gene:: RSPH3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,stop_gained
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.021994/6655 (ALFA)
T=0.001263/1 (PRJEB37584)
T=0.01197/942 (PAGE_STUDY)
T=0.015/9 (NorthernSweden)
T=0.015303/77 (1000Genomes)
T=0.016032/16 (GoNL)
T=0.016698/2027 (ExAC)
T=0.018243/2558 (GnomAD)
T=0.018304/82 (Estonian)
T=0.018519/4 (Qatari)
T=0.020068/261 (GoESP)
T=0.021036/78 (TWINSUK)
T=0.023026/7 (FINRISK)
T=0.023612/91 (ALSPAC)
T=0.024345/13 (MGP)
T=0.02452/46 (HapMap)
T=0.026502/30 (Daghestan)
C=0.5/4 (SGDP_PRJ)
HGVS:: NC_000006.12:g.158977771C>A, NC_000006.12:g.158977771C>T, NC_000006.11:g.159398803C>A, NC_000006.11:g.159398803C>T, NG_051819.1:g.27417G>T, NG_051819.1:g.27417G>A, NM_031924.8:c.1024G>T, NM_031924.8:c.1024G>A, NM_031924.7:c.1450G>T, NM_031924.7:c.1450G>A, NM_031924.6:c.1450G>T, NM_031924.6:c.1450G>A, NM_031924.5:c.1450G>T, NM_031924.5:c.1450G>A, NM_031924.4:c.1450G>T, NM_031924.4:c.1450G>A, NM_001346418.1:c.1162G>T, NM_001346418.1:c.1162G>A, NR_144434.1:n.1661G>T, NR_144434.1:n.1661G>A, XR_001743668.3:n.1676G>T, XR_001743668.3:n.1676G>A, XR_001743668.2:n.1900G>T, XR_001743668.2:n.1900G>A, XR_001743668.1:n.1906G>T, XR_001743668.1:n.1906G>A, XR_001743670.3:n.1388G>T, XR_001743670.3:n.1388G>A, XR_001743670.2:n.1612G>T, XR_001743670.2:n.1612G>A, XR_001743670.1:n.1618G>T, XR_001743670.1:n.1618G>A, XM_047419393.1:c.634G>T, XM_047419393.1:c.634G>A, NP_114130.4:p.Glu342Ter, NP_114130.4:p.Glu342Lys, NP_001333347.1:p.Glu388Ter, NP_001333347.1:p.Glu388Lys, XP_047275349.1:p.Glu212Ter, XP_047275349.1:p.Glu212Lys

Select item 1688930414.

rs16889304 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:158978165 (GRCh38)
6:159399197 (GRCh37)
Canonical SPDI:: NC_000006.12:158978164:A:G
Gene:: RSPH3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.043621/824 (ALFA)
G=0.021875/98 (Estonian)
G=0.022044/22 (GoNL)
G=0.023732/88 (TWINSUK)
G=0.026466/102 (ALSPAC)
G=0.046296/10 (Qatari)
G=0.046667/28 (NorthernSweden)
G=0.056215/282 (1000Genomes)
G=0.059706/8373 (GnomAD)
G=0.059832/15837 (TOPMED)
G=0.070122/23 (HapMap)
A=0.5/2 (Siberian)
A=0.5/26 (SGDP_PRJ)
HGVS:: NC_000006.12:g.158978165A>G, NC_000006.11:g.159399197A>G, NG_051819.1:g.27023T>C

Select item 1688931715.

rs16889317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:158993811 (GRCh38)
6:159414843 (GRCh37)
Canonical SPDI:: NC_000006.12:158993810:G:A,NC_000006.12:158993810:G:T
Gene:: RSPH3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.093847/2651 (ALFA)
A=0.037037/2 (PRJEB36033)
A=0.06808/305 (Estonian)
A=0.072368/22 (FINRISK)
A=0.073034/39 (MGP)
A=0.073625/273 (TWINSUK)
A=0.074148/74 (GoNL)
A=0.080117/1042 (GoESP)
A=0.081474/314 (ALSPAC)
A=0.1/4 (GENOME_DK)
A=0.104666/14657 (GnomAD)
A=0.125/75 (NorthernSweden)
A=0.131157/34716 (TOPMED)
A=0.138889/30 (Qatari)
A=0.159984/37863 (GnomAD_exomes)
A=0.187251/94 (Vietnamese)
A=0.193473/969 (1000Genomes)
G=0.363248/85 (SGDP_PRJ)
G=0.363636/8 (Siberian)
G=0.472079/7912 (TOMMO)
A=0.480546/1408 (KOREAN)
A=0.485262/889 (Korea1K)
HGVS:: NC_000006.12:g.158993811G>A, NC_000006.12:g.158993811G>T, NC_000006.11:g.159414843G>A, NC_000006.11:g.159414843G>T, NG_051819.1:g.11377C>T, NG_051819.1:g.11377C>A

Select item 1688932016.

rs16889320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:158993867 (GRCh38)
6:159414899 (GRCh37)
Canonical SPDI:: NC_000006.12:158993866:T:C
Gene:: RSPH3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.095344/27966 (ALFA)
C=0.067857/304 (Estonian)
C=0.072368/22 (FINRISK)
C=0.073034/39 (MGP)
C=0.073355/272 (TWINSUK)
C=0.074148/74 (GoNL)
C=0.080695/311 (ALSPAC)
C=0.082193/1069 (GoESP)
C=0.1/4 (GENOME_DK)
C=0.105949/14846 (GnomAD)
C=0.125/142 (Daghestan)
C=0.125/75 (NorthernSweden)
C=0.132619/35103 (TOPMED)
C=0.138889/30 (Qatari)
C=0.158805/19257 (ExAC)
C=0.169663/302 (HapMap)
C=0.170951/42919 (GnomAD_exomes)
C=0.194566/974 (1000Genomes)
C=0.220713/17367 (PAGE_STUDY)
C=0.332792/205 (Vietnamese)
T=0.363636/8 (Siberian)
T=0.365546/87 (SGDP_PRJ)
C=0.421795/329 (PRJEB37584)
T=0.472185/7914 (TOMMO)
C=0.481911/1412 (KOREAN)
C=0.485262/889 (Korea1K)
HGVS:: NC_000006.12:g.158993867T>C, NC_000006.11:g.159414899T>C, NG_051819.1:g.11321A>G, NM_031924.8:c.176A>G, NM_031924.7:c.602A>G, NM_031924.6:c.602A>G, NM_031924.5:c.602A>G, NM_031924.4:c.602A>G, NM_001346418.1:c.602A>G, NR_144434.1:n.813A>G, XR_001743668.3:n.828A>G, XR_001743668.2:n.1052A>G, XR_001743668.1:n.1058A>G, XR_001743670.3:n.828A>G, XR_001743670.2:n.1052A>G, XR_001743670.1:n.1058A>G, XM_047419393.1:c.-73A>G, NP_114130.4:p.Asn59Ser, NP_001333347.1:p.Asn201Ser

Select item 2862768217.

rs28627682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:158986176 (GRCh38)
6:159407208 (GRCh37)
Canonical SPDI:: NC_000006.12:158986175:G:T
Gene:: RSPH3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.184637/3507 (ALFA)
T=0.1/4 (GENOME_DK)
T=0.108036/484 (Estonian)
T=0.112224/112 (GoNL)
T=0.114232/61 (MGP)
T=0.118393/439 (TWINSUK)
T=0.131552/507 (ALSPAC)
T=0.176577/196 (Daghestan)
T=0.186667/112 (NorthernSweden)
T=0.217593/47 (Qatari)
T=0.23289/32613 (GnomAD)
T=0.26191/69325 (TOPMED)
T=0.313086/1568 (1000Genomes)
G=0.337838/100 (SGDP_PRJ)
T=0.356481/77 (Vietnamese)
G=0.384615/10 (Siberian)
G=0.472043/7911 (TOMMO)
T=0.481911/1412 (KOREAN)
T=0.484716/888 (Korea1K)
HGVS:: NC_000006.12:g.158986176G>T, NC_000006.11:g.159407208G>T, NG_051819.1:g.19012C>A

Select item 3458217818.

rs34582178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:158986414 (GRCh38)
6:159407446 (GRCh37)
Canonical SPDI:: NC_000006.12:158986413:C:A,NC_000006.12:158986413:C:T
Gene:: RSPH3 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.123242/30679 (ALFA)
T=0.086161/386 (Estonian)
T=0.09018/90 (GoNL)
T=0.09466/351 (TWINSUK)
T=0.095395/29 (FINRISK)
T=0.095506/51 (MGP)
T=0.1/4 (GENOME_DK)
T=0.10226/1330 (GoESP)
T=0.105086/405 (ALSPAC)
T=0.124407/17424 (GnomAD)
T=0.14/84 (NorthernSweden)
T=0.15058/39857 (TOPMED)
T=0.151408/172 (Daghestan)
T=0.157407/34 (Qatari)
T=0.175891/21287 (ExAC)
T=0.187465/46630 (GnomAD_exomes)
T=0.209869/1051 (1000Genomes)
T=0.232634/18306 (PAGE_STUDY)
T=0.320132/194 (Vietnamese)
C=0.363636/8 (Siberian)
C=0.364754/89 (SGDP_PRJ)
T=0.419231/327 (PRJEB37584)
C=0.472008/7911 (TOMMO)
T=0.480205/1407 (KOREAN)
T=0.485262/889 (Korea1K)
HGVS:: NC_000006.12:g.158986414C>A, NC_000006.12:g.158986414C>T, NC_000006.11:g.159407446C>A, NC_000006.11:g.159407446C>T, NG_051819.1:g.18774G>T, NG_051819.1:g.18774G>A, NM_031924.8:c.212G>T, NM_031924.8:c.212G>A, NM_031924.7:c.638G>T, NM_031924.7:c.638G>A, NM_031924.6:c.638G>T, NM_031924.6:c.638G>A, NM_031924.5:c.638G>T, NM_031924.5:c.638G>A, NM_031924.4:c.638G>T, NM_031924.4:c.638G>A, NR_144434.1:n.849G>T, NR_144434.1:n.849G>A, XR_001743668.3:n.864G>T, XR_001743668.3:n.864G>A, XR_001743668.2:n.1088G>T, XR_001743668.2:n.1088G>A, XR_001743668.1:n.1094G>T, XR_001743668.1:n.1094G>A, NP_114130.4:p.Arg71Leu, NP_114130.4:p.Arg71Gln

Select item 3472594219.

rs34725942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:158986383 (GRCh38)
6:159407415 (GRCh37)
Canonical SPDI:: NC_000006.12:158986382:C:G,NC_000006.12:158986382:C:T
Gene:: RSPH3 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.021897/1323 (ALFA)
T=0.014981/8 (MGP)
T=0.021875/98 (Estonian)
T=0.022044/22 (GoNL)
T=0.023463/87 (TWINSUK)
T=0.025688/99 (ALSPAC)
T=0.02964/3597 (ExAC)
T=0.037037/8 (Qatari)
T=0.042763/13 (FINRISK)
T=0.043723/219 (1000Genomes)
T=0.046667/28 (NorthernSweden)
T=0.046908/12416 (TOPMED)
T=0.048593/632 (GoESP)
C=0.5/2 (Siberian)
C=0.5/21 (SGDP_PRJ)
HGVS:: NC_000006.12:g.158986383C>G, NC_000006.12:g.158986383C>T, NC_000006.11:g.159407415C>G, NC_000006.11:g.159407415C>T, NG_051819.1:g.18805G>C, NG_051819.1:g.18805G>A, NM_031924.8:c.243G>C, NM_031924.8:c.243G>A, NM_031924.7:c.669G>C, NM_031924.7:c.669G>A, NM_031924.6:c.669G>C, NM_031924.6:c.669G>A, NM_031924.5:c.669G>C, NM_031924.5:c.669G>A, NM_031924.4:c.669G>C, NM_031924.4:c.669G>A, NR_144434.1:n.880G>C, NR_144434.1:n.880G>A, XR_001743668.3:n.895G>C, XR_001743668.3:n.895G>A, XR_001743668.2:n.1119G>C, XR_001743668.2:n.1119G>A, XR_001743668.1:n.1125G>C, XR_001743668.1:n.1125G>A

Select item 3475668820.

rs34756688 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:158986323 (GRCh38)
6:159407355 (GRCh37)
Canonical SPDI:: NC_000006.12:158986322:T:A,NC_000006.12:158986322:T:C
Gene:: RSPH3 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.01637/993 (ALFA)
C=0.015/9 (NorthernSweden)
C=0.0153/77 (1000Genomes)
C=0.01603/16 (GoNL)
C=0.0183/82 (Estonian)
C=0.01852/4 (Qatari)
C=0.02007/261 (GoESP)
C=0.02104/78 (TWINSUK)
C=0.02303/7 (FINRISK)
C=0.02361/91 (ALSPAC)
C=0.02434/13 (MGP)
T=0.5/4 (SGDP_PRJ)
HGVS:: NC_000006.12:g.158986323T>A, NC_000006.12:g.158986323T>C, NC_000006.11:g.159407355T>A, NC_000006.11:g.159407355T>C, NG_051819.1:g.18865A>T, NG_051819.1:g.18865A>G, NM_031924.8:c.303A>T, NM_031924.8:c.303A>G, NM_031924.7:c.729A>T, NM_031924.7:c.729A>G, NM_031924.6:c.729A>T, NM_031924.6:c.729A>G, NM_031924.5:c.729A>T, NM_031924.5:c.729A>G, NM_031924.4:c.729A>T, NM_031924.4:c.729A>G, NR_144434.1:n.940A>T, NR_144434.1:n.940A>G, XR_001743668.3:n.955A>T, XR_001743668.3:n.955A>G, XR_001743668.2:n.1179A>T, XR_001743668.2:n.1179A>G, XR_001743668.1:n.1185A>T, XR_001743668.1:n.1185A>G

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