6[Chromosome] AND 1500000:3000000[Base Position] - SNP

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Select item 3184261.

rs318426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:2948731 (GRCh38)
6:2948965 (GRCh37)
Canonical SPDI:: NC_000006.12:2948730:C:A,NC_000006.12:2948730:C:G,NC_000006.12:2948730:C:T
Gene:: SERPINB6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.159065/14418 (ALFA)
G=0./0 (KOREAN)
C=0.012987/8 (Vietnamese)
C=0.037037/2 (Siberian)
C=0.05793/971 (TOMMO)
C=0.087273/48 (SGDP_PRJ)
C=0.1/8 (PRJEB36033)
C=0.101852/22 (Qatari)
C=0.106046/221 (HGDP_Stanford)
C=0.106585/191 (HapMap)
C=0.118364/593 (1000Genomes)
C=0.13737/34436 (GnomAD_exomes)
C=0.138745/16835 (ExAC)
C=0.149813/80 (MGP)
C=0.153648/40669 (TOPMED)
C=0.154577/21664 (GnomAD)
C=0.161384/723 (Estonian)
C=0.162694/2116 (GoESP)
C=0.168915/651 (ALSPAC)
C=0.175/105 (NorthernSweden)
C=0.175836/652 (TWINSUK)
C=0.177355/177 (GoNL)
C=0.3/12 (GENOME_DK)
HGVS:: NC_000006.12:g.2948731C>A, NC_000006.12:g.2948731C>G, NC_000006.12:g.2948731C>T, NC_000006.11:g.2948965C>A, NC_000006.11:g.2948965C>G, NC_000006.11:g.2948965C>T, NG_027692.1:g.28435G>T, NG_027692.1:g.28435G>C, NG_027692.1:g.28435G>A

Select item 3859552.

rs385955 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 6:2836032 (GRCh38)
6:2836266 (GRCh37)
Canonical SPDI:: NC_000006.12:2836031:T:A,NC_000006.12:2836031:T:C,NC_000006.12:2836031:T:G
Gene:: SERPINB1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.462565/18436 (ALFA)
G=0./0 (KOREAN)
T=0.27621/137 (SGDP_PRJ)
T=0.3/12 (Siberian)
T=0.407407/88 (Qatari)
T=0.408576/1515 (TWINSUK)
T=0.41483/414 (GoNL)
T=0.421348/225 (MGP)
T=0.435132/1677 (ALSPAC)
T=0.443749/117456 (TOPMED)
A=0.444079/135 (FINRISK)
T=0.450187/2255 (1000Genomes)
T=0.457792/141 (HapMap)
T=0.463616/2077 (Estonian)
T=0.474012/6165 (GoESP)
T=0.492659/302 (Vietnamese)
T=0.495/297 (NorthernSweden)
T=0.5/20 (GENOME_DK)
HGVS:: NC_000006.12:g.2836032T>A, NC_000006.12:g.2836032T>C, NC_000006.12:g.2836032T>G, NC_000006.11:g.2836266T>A, NC_000006.11:g.2836266T>C, NC_000006.11:g.2836266T>G

Select item 10408583.

rs1040858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:2954385 (GRCh38)
6:2954619 (GRCh37)
Canonical SPDI:: NC_000006.12:2954384:C:G,NC_000006.12:2954384:C:T
Gene:: SERPINB6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.193465/6803 (ALFA)
C=0.019231/1 (Siberian)
C=0.028302/6 (Vietnamese)
C=0.042662/125 (KOREAN)
C=0.06062/1016 (TOMMO)
C=0.111111/24 (Qatari)
C=0.114964/63 (SGDP_PRJ)
C=0.133333/44 (HapMap)
C=0.145222/727 (1000Genomes)
C=0.172617/45690 (TOPMED)
C=0.179464/804 (Estonian)
C=0.183333/110 (NorthernSweden)
C=0.1863/718 (ALSPAC)
C=0.187163/694 (TWINSUK)
C=0.197395/197 (GoNL)
C=0.3/12 (GENOME_DK)
HGVS:: NC_000006.12:g.2954385C>G, NC_000006.12:g.2954385C>T, NC_000006.11:g.2954619C>G, NC_000006.11:g.2954619C>T, NG_027692.1:g.22781G>C, NG_027692.1:g.22781G>A

Select item 18852964.

rs1885296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:2970707 (GRCh38)
6:2970941 (GRCh37)
Canonical SPDI:: NC_000006.12:2970706:G:A,NC_000006.12:2970706:G:C,NC_000006.12:2970706:G:T
Gene:: SERPINB6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
G=0.037037/2 (Siberian)
G=0.072622/1215 (TOMMO)
G=0.111111/24 (Qatari)
G=0.111314/61 (SGDP_PRJ)
G=0.135072/676 (1000Genomes)
G=0.160262/709 (Estonian)
G=0.167105/21497 (GnomAD)
G=0.169697/44917 (TOPMED)
G=0.171667/103 (NorthernSweden)
G=0.17177/662 (ALSPAC)
G=0.175351/175 (GoNL)
G=0.175566/651 (TWINSUK)
G=0.3/12 (GENOME_DK)
HGVS:: NC_000006.12:g.2970707G>A, NC_000006.12:g.2970707G>C, NC_000006.12:g.2970707G>T, NC_000006.11:g.2970941G>A, NC_000006.11:g.2970941G>C, NC_000006.11:g.2970941G>T, NG_027692.1:g.6459C>T, NG_027692.1:g.6459C>G, NG_027692.1:g.6459C>A, NM_001374516.1:c.-22C>T, NM_001374516.1:c.-22C>G, NM_001374516.1:c.-22C>A, XM_017010941.2:c.-1896C>T, XM_017010941.2:c.-1896C>G, XM_017010941.2:c.-1896C>A, XM_017010941.1:c.-1896C>T, XM_017010941.1:c.-1896C>G, XM_017010941.1:c.-1896C>A, XM_024446465.2:c.-114C>T, XM_024446465.2:c.-114C>G, XM_024446465.2:c.-114C>A, XM_024446465.1:c.-114C>T, XM_024446465.1:c.-114C>G, XM_024446465.1:c.-114C>A, XM_047418883.1:c.-1896C>T, XM_047418883.1:c.-1896C>G, XM_047418883.1:c.-1896C>A, XM_047418889.1:c.-1927C>T, XM_047418889.1:c.-1927C>G, XM_047418889.1:c.-1927C>A, XM_047418890.1:c.-1907C>T, XM_047418890.1:c.-1907C>G, XM_047418890.1:c.-1907C>A, XM_047418888.1:c.-114C>T, XM_047418888.1:c.-114C>G, XM_047418888.1:c.-114C>A

Select item 19648635.

rs1964863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:2955046 (GRCh38)
6:2955280 (GRCh37)
Canonical SPDI:: NC_000006.12:2955045:C:T
Gene:: SERPINB6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.303791/5738 (ALFA)
T=0.214953/46 (Vietnamese)
T=0.237352/1189 (1000Genomes)
T=0.256016/4291 (TOMMO)
T=0.258264/68360 (TOPMED)
T=0.264039/36900 (GnomAD)
T=0.298035/546 (Korea1K)
T=0.3/12 (GENOME_DK)
T=0.302048/885 (KOREAN)
T=0.327655/327 (GoNL)
T=0.334977/1291 (ALSPAC)
T=0.338991/1518 (Estonian)
T=0.348333/209 (NorthernSweden)
T=0.348436/1292 (TWINSUK)
C=0.357143/15 (Siberian)
C=0.384956/87 (SGDP_PRJ)
T=0.407407/88 (Qatari)
HGVS:: NC_000006.12:g.2955046C>T, NC_000006.11:g.2955280C>T, NG_027692.1:g.22120G>A

Select item 22300966.

rs2230096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:1610850 (GRCh38)
6:1611085 (GRCh37)
Canonical SPDI:: NC_000006.12:1610849:C:A,NC_000006.12:1610849:C:T
Gene:: FOXC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,stop_gained
Clinical significance:: benign,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.008121/405 (ALFA)
T=0.000035/1 (TOMMO)
T=0.005618/3 (MGP)
T=0.007928/1993 (GnomAD_exomes)
T=0.009638/1168 (ExAC)
T=0.027778/6 (Qatari)
T=0.030961/4340 (GnomAD)
T=0.032487/8599 (TOPMED)
T=0.034354/172 (1000Genomes)
T=0.035215/458 (GoESP)
C=0.458333/11 (SGDP_PRJ)
HGVS:: NC_000006.12:g.1610850C>A, NC_000006.12:g.1610850C>T, NC_000006.11:g.1611085C>A, NC_000006.11:g.1611085C>T, NG_009368.1:g.5405C>A, NG_009368.1:g.5405C>T, NM_001453.3:c.405C>A, NM_001453.3:c.405C>T, NM_001453.2:c.405C>A, NM_001453.2:c.405C>T, NP_001444.2:p.Cys135Ter

Select item 22362777.

rs2236277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:2959279 (GRCh38)
6:2959513 (GRCh37)
Canonical SPDI:: NC_000006.12:2959278:C:T
Gene:: SERPINB6 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.328259/78385 (ALFA)
T=0.194444/42 (Qatari)
T=0.225/9 (GENOME_DK)
T=0.274181/3566 (GoESP)
T=0.288271/40362 (GnomAD)
T=0.299622/1111 (TWINSUK)
T=0.302773/80141 (TOPMED)
T=0.305921/93 (FINRISK)
T=0.31/186 (NorthernSweden)
T=0.311607/1396 (Estonian)
T=0.315011/596 (HapMap)
T=0.316035/1218 (ALSPAC)
T=0.325651/325 (GoNL)
T=0.335884/1682 (1000Genomes)
T=0.341039/41396 (ExAC)
T=0.348783/87707 (GnomAD_exomes)
C=0.359649/123 (SGDP_PRJ)
T=0.378482/788 (HGDP_Stanford)
T=0.383895/205 (MGP)
T=0.457143/32 (PRJEB36033)
C=0.458333/11 (Siberian)
T=0.465909/287 (Vietnamese)
C=0.475888/375 (PRJEB37584)
T=0.491126/1439 (KOREAN)
T=0.495824/8310 (TOMMO)
HGVS:: NC_000006.12:g.2959279C>T, NC_000006.11:g.2959513C>T, NG_027692.1:g.17887G>A, NM_004568.6:c.54G>A, NM_004568.5:c.54G>A, NM_001195291.3:c.66G>A, NM_001195291.2:c.66G>A, NM_001271823.2:c.111G>A, NM_001271823.1:c.111G>A, NM_001271822.2:c.96G>A, NM_001271822.1:c.96G>A, NM_001297699.2:c.54G>A, NM_001297699.1:c.54G>A, NM_001271825.2:c.54G>A, NM_001271825.1:c.54G>A, NM_001297700.2:c.54G>A, NM_001297700.1:c.54G>A, NM_001271824.2:c.54G>A, NM_001271824.1:c.54G>A, NM_001374515.1:c.66G>A, NR_164657.1:n.99G>A, NM_001374516.1:c.54G>A, XM_011514672.2:c.288G>A, XM_011514672.1:c.288G>A, XM_047418883.1:c.288G>A, XM_047418889.1:c.66G>A, XM_047418890.1:c.66G>A, XM_047418891.1:c.54G>A, XM_047418884.1:c.288G>A, XM_047418887.1:c.288G>A, XM_047418885.1:c.288G>A, XM_047418892.1:c.54G>A, XM_047418888.1:c.288G>A

Select item 22446938.

rs2244693 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:2953018 (GRCh38)
6:2953252 (GRCh37)
Canonical SPDI:: NC_000006.12:2953017:T:A,NC_000006.12:2953017:T:C
Gene:: SERPINB6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.326724/10414 (ALFA)
T=0.166667/8 (Siberian)
T=0.178157/522 (KOREAN)
T=0.179039/328 (Korea1K)
T=0.219867/3685 (TOMMO)
T=0.230769/120 (SGDP_PRJ)
T=0.247136/151 (Vietnamese)
T=0.282772/151 (MGP)
T=0.312625/312 (GoNL)
T=0.317961/1179 (TWINSUK)
T=0.318371/1227 (ALSPAC)
T=0.318433/79942 (GnomAD_exomes)
T=0.319444/69 (Qatari)
T=0.323333/194 (NorthernSweden)
T=0.3241/39327 (ExAC)
T=0.334821/1500 (Estonian)
T=0.336665/1686 (1000Genomes)
T=0.35228/93245 (TOPMED)
T=0.362818/685 (HapMap)
T=0.363243/50899 (GnomAD)
T=0.371213/4828 (GoESP)
T=0.375/114 (FINRISK)
T=0.425/17 (GENOME_DK)
HGVS:: NC_000006.12:g.2953018T>A, NC_000006.12:g.2953018T>C, NC_000006.11:g.2953252T>A, NC_000006.11:g.2953252T>C, NG_027692.1:g.24148A>T, NG_027692.1:g.24148A>G

Select item 22957669.

rs2295766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:2953160 (GRCh38)
6:2953394 (GRCh37)
Canonical SPDI:: NC_000006.12:2953159:C:T
Gene:: SERPINB6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000699/195 (ALFA)
T=0.000077/1 (GoESP)
T=0.001084/152 (GnomAD)
T=0.001873/1 (MGP)
T=0.001953/517 (TOPMED)
T=0.002336/39 (TOMMO)
T=0.003353/407 (ExAC)
T=0.004076/1025 (GnomAD_exomes)
T=0.004216/21 (1000Genomes)
T=0.004219/332 (PAGE_STUDY)
T=0.004367/8 (Korea1K)
T=0.00616/18 (KOREAN)
T=0.013924/11 (PRJEB37584)
T=0.019194/20 (HapMap)
T=0.01956/64 (PRJEB37766)
T=0.026059/16 (Vietnamese)
HGVS:: NC_000006.12:g.2953160C>T, NC_000006.11:g.2953394C>T, NG_027692.1:g.24006G>A, NM_004568.6:c.457G>A, NM_004568.5:c.457G>A, NM_001195291.3:c.469G>A, NM_001195291.2:c.469G>A, NM_001271823.2:c.514G>A, NM_001271823.1:c.514G>A, NM_001271822.2:c.499G>A, NM_001271822.1:c.499G>A, NM_001297699.2:c.457G>A, NM_001297699.1:c.457G>A, NM_001271825.2:c.457G>A, NM_001271825.1:c.457G>A, NM_001297700.2:c.457G>A, NM_001297700.1:c.457G>A, NM_001271824.2:c.457G>A, NM_001271824.1:c.457G>A, NM_001374515.1:c.469G>A, NM_001374517.1:c.325G>A, NR_164657.1:n.502G>A, NM_001374516.1:c.457G>A, XM_017010941.2:c.325G>A, XM_017010941.1:c.325G>A, XM_011514672.2:c.691G>A, XM_011514672.1:c.691G>A, XM_024446465.2:c.325G>A, XM_024446465.1:c.325G>A, XM_047418883.1:c.691G>A, XM_047418889.1:c.469G>A, XM_047418890.1:c.469G>A, XM_047418891.1:c.457G>A, XM_047418884.1:c.691G>A, XM_047418887.1:c.691G>A, XM_047418885.1:c.691G>A, XM_047418892.1:c.457G>A, XM_047418888.1:c.691G>A, XM_047418893.1:c.325G>A, NP_004559.4:p.Gly153Ser, NP_001182220.2:p.Gly157Ser, NP_001258752.1:p.Gly172Ser, NP_001258751.1:p.Gly167Ser, NP_001284628.1:p.Gly153Ser, NP_001258754.1:p.Gly153Ser, NP_001284629.1:p.Gly153Ser, NP_001258753.1:p.Gly153Ser, NP_001361444.1:p.Gly157Ser, NP_001361446.1:p.Gly109Ser, NP_001361445.1:p.Gly153Ser, XP_016866430.1:p.Gly109Ser, XP_011512974.1:p.Gly231Ser, XP_024302233.1:p.Gly109Ser, XP_047274839.1:p.Gly231Ser, XP_047274845.1:p.Gly157Ser, XP_047274846.1:p.Gly157Ser, XP_047274847.1:p.Gly153Ser, XP_047274840.1:p.Gly231Ser, XP_047274843.1:p.Gly231Ser, XP_047274841.1:p.Gly231Ser, XP_047274848.1:p.Gly153Ser, XP_047274844.1:p.Gly231Ser, XP_047274849.1:p.Gly109Ser

Select item 229576710.

rs2295767 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:2954323 (GRCh38)
6:2954557 (GRCh37)
Canonical SPDI:: NC_000006.12:2954322:C:A,NC_000006.12:2954322:C:T
Gene:: SERPINB6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.14905/11041 (ALFA)
T=0.084665/53 (Chileans)
T=0.139279/139 (GoNL)
T=0.13963/408 (KOREAN)
T=0.140284/257 (Korea1K)
T=0.15534/576 (TWINSUK)
T=0.156667/94 (NorthernSweden)
T=0.15672/604 (ALSPAC)
T=0.161394/33098 (GENOGRAPHIC)
T=0.162927/2731 (TOMMO)
T=0.168304/754 (Estonian)
T=0.175/7 (GENOME_DK)
T=0.178194/371 (HGDP_Stanford)
T=0.205399/54367 (TOPMED)
T=0.214866/1076 (1000Genomes)
T=0.216216/16 (PRJEB36033)
T=0.217128/30374 (GnomAD)
T=0.233333/49 (Vietnamese)
T=0.240741/52 (Qatari)
T=0.25291/478 (HapMap)
C=0.45/9 (Siberian)
C=0.465116/80 (SGDP_PRJ)
HGVS:: NC_000006.12:g.2954323C>A, NC_000006.12:g.2954323C>T, NC_000006.11:g.2954557C>A, NC_000006.11:g.2954557C>T, NG_027692.1:g.22843G>T, NG_027692.1:g.22843G>A

Select item 229576811.

rs2295768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:2954368 (GRCh38)
6:2954602 (GRCh37)
Canonical SPDI:: NC_000006.12:2954367:C:A,NC_000006.12:2954367:C:T
Gene:: SERPINB6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.194571/3598 (ALFA)
T=0.20097/373 (HapMap)
T=0.21877/1096 (1000Genomes)
T=0.219512/18 (PRJEB36033)
T=0.228972/49 (Vietnamese)
T=0.237942/62981 (TOPMED)
T=0.256317/4296 (TOMMO)
T=0.297489/545 (Korea1K)
T=0.3/12 (GENOME_DK)
T=0.301706/884 (KOREAN)
T=0.311502/195 (Chileans)
T=0.327655/327 (GoNL)
T=0.336533/1297 (ALSPAC)
T=0.341964/1532 (Estonian)
T=0.35/210 (NorthernSweden)
T=0.350593/1300 (TWINSUK)
C=0.357143/15 (Siberian)
C=0.375/81 (SGDP_PRJ)
T=0.402778/87 (Qatari)
HGVS:: NC_000006.12:g.2954368C>A, NC_000006.12:g.2954368C>T, NC_000006.11:g.2954602C>A, NC_000006.11:g.2954602C>T, NG_027692.1:g.22798G>T, NG_027692.1:g.22798G>A

Select item 229576912.

rs2295769 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:2955568 (GRCh38)
6:2955802 (GRCh37)
Canonical SPDI:: NC_000006.12:2955567:T:C
Gene:: SERPINB6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.292694/110620 (ALFA)
C=0.16975/13359 (PAGE_STUDY)
C=0.190476/360 (HapMap)
C=0.210806/1056 (1000Genomes)
C=0.214052/131 (Vietnamese)
C=0.220042/58243 (TOPMED)
C=0.220283/2865 (GoESP)
C=0.221969/31105 (GnomAD)
C=0.230263/70 (FINRISK)
C=0.243996/508 (HGDP_Stanford)
C=0.256812/4304 (TOMMO)
C=0.264454/32100 (ExAC)
C=0.265735/66825 (GnomAD_exomes)
C=0.275/11 (GENOME_DK)
C=0.285571/285 (GoNL)
C=0.28839/154 (MGP)
C=0.295/177 (NorthernSweden)
C=0.298035/546 (Korea1K)
C=0.299777/1343 (Estonian)
C=0.301505/1162 (ALSPAC)
C=0.301706/884 (KOREAN)
C=0.3125/20 (PRJEB36033)
C=0.317961/1179 (TWINSUK)
T=0.379808/79 (SGDP_PRJ)
T=0.404762/17 (Siberian)
C=0.407407/88 (Qatari)
HGVS:: NC_000006.12:g.2955568T>C, NC_000006.11:g.2955802T>C, NG_027692.1:g.21598A>G, NM_004568.6:c.268A>G, NM_004568.5:c.268A>G, NM_001195291.3:c.280A>G, NM_001195291.2:c.280A>G, NM_001271823.2:c.325A>G, NM_001271823.1:c.325A>G, NM_001271822.2:c.310A>G, NM_001271822.1:c.310A>G, NM_001297699.2:c.268A>G, NM_001297699.1:c.268A>G, NM_001271825.2:c.268A>G, NM_001271825.1:c.268A>G, NM_001297700.2:c.268A>G, NM_001297700.1:c.268A>G, NM_001271824.2:c.268A>G, NM_001271824.1:c.268A>G, NM_001374515.1:c.280A>G, NM_001374517.1:c.136A>G, NR_164657.1:n.313A>G, NM_001374516.1:c.268A>G, XM_017010941.2:c.136A>G, XM_017010941.1:c.136A>G, XM_011514672.2:c.502A>G, XM_011514672.1:c.502A>G, XM_024446465.2:c.136A>G, XM_024446465.1:c.136A>G, XM_047418883.1:c.502A>G, XM_047418889.1:c.280A>G, XM_047418890.1:c.280A>G, XM_047418891.1:c.268A>G, XM_047418884.1:c.502A>G, XM_047418887.1:c.502A>G, XM_047418885.1:c.502A>G, XM_047418892.1:c.268A>G, XM_047418888.1:c.502A>G, XM_047418893.1:c.136A>G, NP_004559.4:p.Met90Val, NP_001182220.2:p.Met94Val, NP_001258752.1:p.Met109Val, NP_001258751.1:p.Met104Val, NP_001284628.1:p.Met90Val, NP_001258754.1:p.Met90Val, NP_001284629.1:p.Met90Val, NP_001258753.1:p.Met90Val, NP_001361444.1:p.Met94Val, NP_001361446.1:p.Met46Val, NP_001361445.1:p.Met90Val, XP_016866430.1:p.Met46Val, XP_011512974.1:p.Met168Val, XP_024302233.1:p.Met46Val, XP_047274839.1:p.Met168Val, XP_047274845.1:p.Met94Val, XP_047274846.1:p.Met94Val, XP_047274847.1:p.Met90Val, XP_047274840.1:p.Met168Val, XP_047274843.1:p.Met168Val, XP_047274841.1:p.Met168Val, XP_047274848.1:p.Met90Val, XP_047274844.1:p.Met168Val, XP_047274849.1:p.Met46Val

Select item 318823813.

rs3188238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:2948319 (GRCh38)
6:2948553 (GRCh37)
Canonical SPDI:: NC_000006.12:2948318:G:A
Gene:: SERPINB6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000136/5 (ALFA)
A=0.00006/15 (GnomAD_exomes)
A=0.000066/8 (ExAC)
A=0.000071/10 (GnomAD)
A=0.000077/1 (GoESP)
A=0.000094/25 (TOPMED)
HGVS:: NC_000006.12:g.2948319G>A, NC_000006.11:g.2948553G>A, NG_027692.1:g.28847C>T, NM_004568.6:c.1110C>T, NM_004568.5:c.1110C>T, NM_001195291.3:c.1122C>T, NM_001195291.2:c.1122C>T, NM_001271823.2:c.1167C>T, NM_001271823.1:c.1167C>T, NM_001271822.2:c.1152C>T, NM_001271822.1:c.1152C>T, NM_001297699.2:c.1110C>T, NM_001297699.1:c.1110C>T, NM_001271825.2:c.1110C>T, NM_001271825.1:c.1110C>T, NM_001297700.2:c.1110C>T, NM_001297700.1:c.1110C>T, NM_001271824.2:c.1110C>T, NM_001271824.1:c.1110C>T, NM_001374515.1:c.1122C>T, NM_001374517.1:c.978C>T, NR_164657.1:n.1159C>T, NM_001374516.1:c.1110C>T, XM_017010941.2:c.978C>T, XM_017010941.1:c.978C>T, XM_011514672.2:c.1344C>T, XM_011514672.1:c.1344C>T, XM_024446465.2:c.978C>T, XM_024446465.1:c.978C>T, XM_047418883.1:c.1344C>T, XM_047418889.1:c.1122C>T, XM_047418890.1:c.1122C>T, XM_047418891.1:c.1110C>T, XM_047418884.1:c.1344C>T, XM_047418887.1:c.1344C>T, XM_047418885.1:c.1344C>T, XM_047418892.1:c.1110C>T, XM_047418888.1:c.1344C>T, XM_047418893.1:c.978C>T

Select item 373447814.

rs3734478 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 6:2955898 (GRCh38)
6:2956132 (GRCh37)
Canonical SPDI:: NC_000006.12:2955897:A:C,NC_000006.12:2955897:A:G,NC_000006.12:2955897:A:T
Gene:: SERPINB6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.194725/1425 (ALFA)
T=0./0 (KOREAN)
A=0.02381/5 (Vietnamese)
A=0.037037/2 (Siberian)
A=0.057754/968 (TOMMO)
A=0.083942/46 (SGDP_PRJ)
A=0.106481/23 (Qatari)
A=0.113054/566 (1000Genomes)
A=0.150614/39866 (TOPMED)
A=0.152004/21290 (GnomAD)
A=0.1625/728 (Estonian)
A=0.169694/654 (ALSPAC)
A=0.171667/103 (NorthernSweden)
A=0.174757/648 (TWINSUK)
A=0.179359/179 (GoNL)
A=0.3/12 (GENOME_DK)
HGVS:: NC_000006.12:g.2955898A>C, NC_000006.12:g.2955898A>G, NC_000006.12:g.2955898A>T, NC_000006.11:g.2956132A>C, NC_000006.11:g.2956132A>G, NC_000006.11:g.2956132A>T, NG_027692.1:g.21268T>G, NG_027692.1:g.21268T>C, NG_027692.1:g.21268T>A

Select item 379919615.

rs3799196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:2968811 (GRCh38)
6:2969045 (GRCh37)
Canonical SPDI:: NC_000006.12:2968810:T:C
Gene:: SERPINB6 (Varview)
Functional Consequence:: intron_variant,initiator_codon_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.015269/505 (ALFA)
C=0.002796/47 (TOMMO)
C=0.00463/1 (Qatari)
C=0.006004/11 (Korea1K)
C=0.006502/19 (KOREAN)
C=0.011667/7 (NorthernSweden)
C=0.013484/50 (TWINSUK)
C=0.01458/2045 (GnomAD)
C=0.014874/3937 (TOPMED)
C=0.017385/67 (ALSPAC)
C=0.017699/20 (Daghestan)
C=0.017857/80 (Estonian)
C=0.02004/20 (GoNL)
C=0.020211/23 (HapMap)
C=0.022486/113 (1000Genomes)
T=0.5/1 (Siberian)
T=0.5/15 (SGDP_PRJ)
HGVS:: NC_000006.12:g.2968811T>C, NC_000006.11:g.2969045T>C, NG_027692.1:g.8355A>G, NM_001195291.3:c.-31A>G, NM_001195291.2:c.-31A>G, NM_001374515.1:c.-31A>G, NM_001374517.1:c.1A>G, XM_017010941.2:c.1A>G, XM_017010941.1:c.1A>G, XM_011514672.2:c.1A>G, XM_011514672.1:c.1A>G, XM_024446465.2:c.1A>G, XM_024446465.1:c.1A>G, XM_047418883.1:c.1A>G, XM_047418889.1:c.-31A>G, XM_047418890.1:c.-11A>G, XM_047418884.1:c.1A>G, XM_047418887.1:c.1A>G, XM_047418885.1:c.1A>G, XM_047418888.1:c.1A>G, XM_047418893.1:c.1A>G, NP_001361446.1:p.Met1Val, XP_016866430.1:p.Met1Val, XP_011512974.1:p.Met1Val, XP_024302233.1:p.Met1Val, XP_047274839.1:p.Met1Val, XP_047274840.1:p.Met1Val, XP_047274843.1:p.Met1Val, XP_047274841.1:p.Met1Val, XP_047274844.1:p.Met1Val, XP_047274849.1:p.Met1Val

Select item 381827616.

rs3818276 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:2953211 (GRCh38)
6:2953445 (GRCh37)
Canonical SPDI:: NC_000006.12:2953210:A:G,NC_000006.12:2953210:A:T
Gene:: SERPINB6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.157605/24725 (ALFA)
A=0.011475/7 (Vietnamese)
A=0.035836/105 (KOREAN)
A=0.055556/3 (Siberian)
A=0.057506/964 (TOMMO)
A=0.085145/47 (SGDP_PRJ)
A=0.091966/174 (HapMap)
A=0.10431/522 (1000Genomes)
A=0.111111/24 (Qatari)
A=0.141985/37582 (TOPMED)
A=0.142322/76 (MGP)
A=0.144499/20259 (GnomAD)
A=0.148333/89 (NorthernSweden)
A=0.152007/1977 (GoESP)
A=0.164286/736 (Estonian)
A=0.171251/660 (ALSPAC)
A=0.174488/647 (TWINSUK)
A=0.177355/177 (GoNL)
A=0.3/12 (GENOME_DK)
HGVS:: NC_000006.12:g.2953211A>G, NC_000006.12:g.2953211A>T, NC_000006.11:g.2953445A>G, NC_000006.11:g.2953445A>T, NG_027692.1:g.23955T>C, NG_027692.1:g.23955T>A

Select item 587384917.

rs5873849 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 6:2968474 (GRCh38)
6:2968708 (GRCh37)
Canonical SPDI:: NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAA,NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: SERPINB6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.070167/1176 (TOMMO)
A=0.102904/515 (1000Genomes)
A=0.138672/36705 (TOPMED)
A=0.166321/641 (ALSPAC)
A=0.167476/621 (TWINSUK)
A=0.170569/102 (NorthernSweden)
A=0.174349/174 (GoNL)
A=0.3/12 (GENOME_DK)
HGVS:: NC_000006.12:g.2968474_2968475del, NC_000006.12:g.2968475del, NC_000006.12:g.2968475dup, NC_000006.11:g.2968708_2968709del, NC_000006.11:g.2968709del, NC_000006.11:g.2968709dup, NG_027692.1:g.8700_8701del, NG_027692.1:g.8701del, NG_027692.1:g.8701dup

Select item 690927618.

rs6909276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:2955203 (GRCh38)
6:2955437 (GRCh37)
Canonical SPDI:: NC_000006.12:2955202:C:A
Gene:: SERPINB6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.07934/1197 (ALFA)
A=0.001596/26 (TOMMO)
A=0.002401/280 (GnomAD)
A=0.007709/14 (Korea1K)
A=0.095638/57 (NorthernSweden)
A=0.314511/919 (KOREAN)
A=0.421296/91 (Qatari)
C=0.5/124 (SGDP_PRJ)
C=0.5/19 (Siberian)
HGVS:: NC_000006.12:g.2955203C>A, NC_000006.11:g.2955437C>A, NG_027692.1:g.21963G>T

Select item 693859019.

rs6938590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:2971027 (GRCh38)
6:2971261 (GRCh37)
Canonical SPDI:: NC_000006.12:2971026:T:C
Gene:: SERPINB6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.146533/2768 (ALFA)
T=0.037037/2 (Siberian)
T=0.042453/9 (Vietnamese)
T=0.056733/166 (KOREAN)
T=0.070761/1186 (TOMMO)
T=0.083032/46 (SGDP_PRJ)
T=0.093535/468 (1000Genomes)
T=0.101852/22 (Qatari)
T=0.130303/34490 (TOPMED)
T=0.133805/18752 (GnomAD)
T=0.160714/720 (Estonian)
T=0.17/102 (NorthernSweden)
T=0.170991/659 (ALSPAC)
T=0.175027/649 (TWINSUK)
T=0.3/12 (GENOME_DK)
HGVS:: NC_000006.12:g.2971027T>C, NC_000006.11:g.2971261T>C, NG_027692.1:g.6139A>G, NM_001271823.2:c.-223A>G, NM_001271823.1:c.-223A>G

Select item 745376520.

rs7453765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:2959594 (GRCh38)
6:2959828 (GRCh37)
Canonical SPDI:: NC_000006.12:2959593:G:A
Gene:: SERPINB6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.313752/9683 (ALFA)
A=0.199074/43 (Qatari)
A=0.225/9 (GENOME_DK)
A=0.292056/40899 (GnomAD)
A=0.307103/81287 (TOPMED)
A=0.307174/1139 (TWINSUK)
A=0.3125/1400 (Estonian)
A=0.313333/188 (NorthernSweden)
A=0.313665/101 (HapMap)
A=0.321744/1240 (ALSPAC)
A=0.336673/336 (GoNL)
A=0.340881/1707 (1000Genomes)
G=0.354651/122 (SGDP_PRJ)
A=0.424528/90 (Vietnamese)
G=0.458333/11 (Siberian)
A=0.496928/1456 (KOREAN)
A=0.499257/8368 (TOMMO)
HGVS:: NC_000006.12:g.2959594G>A, NC_000006.11:g.2959828G>A, NG_027692.1:g.17572C>T

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