"pathogenic"[Clinical Significance]) OR "likely pathogenic"[Clinical S - SNP

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Select item 2681.

rs268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:19956018 (GRCh38)
8:19813529 (GRCh37)
Canonical SPDI:: NC_000008.11:19956017:A:G
Gene:: LPL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance,risk-factor,conflicting-interpretations-of-pathogenicity,benign,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.016273/3560 (ALFA)
G=0.000035/1 (TOMMO)
G=0.004685/23 (1000Genomes)
G=0.004968/391 (PAGE_STUDY)
G=0.00565/4 (HapMap)
G=0.011043/2923 (TOPMED)
G=0.01278/3212 (GnomAD_exomes)
G=0.013109/7 (MGP)
G=0.013158/4 (FINRISK)
G=0.013274/1862 (GnomAD)
G=0.013363/1622 (ExAC)
G=0.018682/72 (ALSPAC)
G=0.019957/74 (TWINSUK)
G=0.023884/107 (Estonian)
G=0.028333/17 (NorthernSweden)
G=0.028571/2 (PRJEB36033)
G=0.03006/30 (GoNL)
G=0.05/2 (GENOME_DK)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.19956018A>G, NC_000008.10:g.19813529A>G, NG_008855.2:g.59302A>G, NM_000237.3:c.953A>G, NM_000237.2:c.953A>G, NP_000228.1:p.Asn318Ser

PubMed

Select item 3342.

rs334 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 11:5227002 (GRCh38)
11:5248232 (GRCh37)
Canonical SPDI:: NC_000011.10:5227001:T:A,NC_000011.10:5227001:T:C,NC_000011.10:5227001:T:G
Gene:: HBB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign,conflicting-interpretations-of-pathogenicity,protective,likely-benign,pathogenic,other
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000785/35 (ALFA)
A=0./0 (PRJEB36033)
G=0.000546/1 (Korea1K)
G=0.001711/5 (KOREAN)
A=0.00348/874 (GnomAD_exomes)
A=0.004384/532 (ExAC)
A=0.012978/1820 (GnomAD)
A=0.018519/4 (Qatari)
A=0.028732/144 (1000Genomes)
A=0.040373/13 (HapMap)
T=0.5/5 (SGDP_PRJ)
HGVS:: NC_000011.10:g.5227002T>A, NC_000011.10:g.5227002T>C, NC_000011.10:g.5227002T>G, NC_000011.9:g.5248232T>A, NC_000011.9:g.5248232T>C, NC_000011.9:g.5248232T>G, NG_000007.3:g.70614A>T, NG_000007.3:g.70614A>G, NG_000007.3:g.70614A>C, NG_059281.1:g.5070A>T, NG_059281.1:g.5070A>G, NG_059281.1:g.5070A>C, NM_000518.5:c.20A>T, NM_000518.5:c.20A>G, NM_000518.5:c.20A>C, NM_000518.4:c.20A>T, NM_000518.4:c.20A>G, NM_000518.4:c.20A>C, NG_046672.1:g.4937T>A, NG_046672.1:g.4937T>C, NG_046672.1:g.4937T>G, NG_042296.1:g.533T>A, NG_042296.1:g.533T>C, NG_042296.1:g.533T>G, NP_000509.1:p.Glu7Val, NP_000509.1:p.Glu7Gly, NP_000509.1:p.Glu7Ala

PubMed

Select item 6613.

rs661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:73217225 (GRCh38)
14:73683933 (GRCh37)
Canonical SPDI:: NC_000014.9:73217224:G:A,NC_000014.9:73217224:G:T
Gene:: PSEN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic,not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (PAGE_STUDY)
T=0.000049/6 (ExAC)
HGVS:: NC_000014.9:g.73217225G>A, NC_000014.9:g.73217225G>T, NC_000014.8:g.73683933G>A, NC_000014.8:g.73683933G>T, NG_007386.2:g.85755G>A, NG_007386.2:g.85755G>T, NM_000021.4:c.1229G>A, NM_000021.4:c.1229G>T, NM_000021.3:c.1229G>A, NM_000021.3:c.1229G>T, NM_007318.3:c.1217G>A, NM_007318.3:c.1217G>T, NM_007318.2:c.1217G>A, NM_007318.2:c.1217G>T, XM_005267864.4:c.1229G>A, XM_005267864.4:c.1229G>T, XM_005267864.3:c.1229G>A, XM_005267864.3:c.1229G>T, XM_005267864.2:c.1229G>A, XM_005267864.2:c.1229G>T, XM_005267864.1:c.1229G>A, XM_005267864.1:c.1229G>T, XM_011536974.3:c.1217G>A, XM_011536974.3:c.1217G>T, XM_011536974.2:c.1217G>A, XM_011536974.2:c.1217G>T, XM_011536974.1:c.1217G>A, XM_011536974.1:c.1217G>T, XM_011536972.3:c.1229G>A, XM_011536972.3:c.1229G>T, XM_011536972.2:c.1229G>A, XM_011536972.2:c.1229G>T, XM_011536972.1:c.1229G>A, XM_011536972.1:c.1229G>T, XM_011536973.3:c.1217G>A, XM_011536973.3:c.1217G>T, XM_011536973.2:c.1217G>A, XM_011536973.2:c.1217G>T, XM_011536973.1:c.1217G>A, XM_011536973.1:c.1217G>T, XM_005267866.3:c.1217G>A, XM_005267866.3:c.1217G>T, XM_005267866.2:c.1217G>A, XM_005267866.2:c.1217G>T, XM_005267866.1:c.1217G>A, XM_005267866.1:c.1217G>T, XM_047431600.1:c.1229G>A, XM_047431600.1:c.1229G>T, XM_047431601.1:c.1229G>A, XM_047431601.1:c.1229G>T, XM_047431602.1:c.1217G>A, XM_047431602.1:c.1217G>T, NM_007319.1:c.*184G>A, NM_007319.1:c.*184G>T, NP_000012.1:p.Cys410Tyr, NP_000012.1:p.Cys410Phe, NP_015557.2:p.Cys406Tyr, NP_015557.2:p.Cys406Phe, XP_005267921.1:p.Cys410Tyr, XP_005267921.1:p.Cys410Phe, XP_011535276.1:p.Cys406Tyr, XP_011535276.1:p.Cys406Phe, XP_011535274.1:p.Cys410Tyr, XP_011535274.1:p.Cys410Phe, XP_011535275.1:p.Cys406Tyr, XP_011535275.1:p.Cys406Phe, XP_005267923.1:p.Cys406Tyr, XP_005267923.1:p.Cys406Phe, XP_047287556.1:p.Cys410Tyr, XP_047287556.1:p.Cys410Phe, XP_047287557.1:p.Cys410Tyr, XP_047287557.1:p.Cys410Phe, XP_047287558.1:p.Cys406Tyr, XP_047287558.1:p.Cys406Phe

PubMed

Select item 6714.

rs671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:111803962 (GRCh38)
12:112241766 (GRCh37)
Canonical SPDI:: NC_000012.12:111803961:G:A
Gene:: ALDH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic,protective,risk-factor,drug-response
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.006055/1921 (ALFA)
A=0./0 (PRJEB36033)
A=0./0 (TWINSUK)
A=0.001038/4 (ALSPAC)
A=0.005396/6 (Daghestan)
A=0.005957/835 (GnomAD)
A=0.008958/2371 (TOPMED)
A=0.018882/4582 (GnomAD_exomes)
A=0.021287/1878 (ExAC)
A=0.027166/2138 (PAGE_STUDY)
A=0.033573/168 (1000Genomes)
A=0.129921/99 (HapMap)
A=0.155568/285 (Korea1K)
A=0.172591/505 (KOREAN)
A=0.194034/3252 (TOMMO)
A=0.208609/126 (Vietnamese)
G=0.5/11 (SGDP_PRJ)
HGVS:: NC_000012.12:g.111803962G>A, NC_000012.11:g.112241766G>A, NG_012250.2:g.42076G>A, NM_000690.4:c.1510G>A, NM_000690.3:c.1510G>A, NM_001204889.2:c.1369G>A, NM_001204889.1:c.1369G>A, NP_000681.2:p.Glu504Lys, NP_001191818.1:p.Glu457Lys

PubMed

Select item 46735.

rs4673 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 16:88646828 (GRCh38)
16:88713236 (GRCh37)
Canonical SPDI:: NC_000016.10:88646827:A:G,NC_000016.10:88646827:A:T
Gene:: CYBA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-pathogenic,benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.342109/120040 (ALFA)
A=0.055738/34 (Vietnamese)
A=0.09215/270 (KOREAN)
A=0.092249/169 (Korea1K)
A=0.093947/1574 (TOMMO)
A=0.165563/50 (FINRISK)
A=0.196/98 (SGDP_PRJ)
A=0.225/9 (GENOME_DK)
A=0.246667/148 (NorthernSweden)
A=0.269231/14 (Siberian)
A=0.292706/610 (HGDP_Stanford)
A=0.292857/1312 (Estonian)
A=0.302295/75763 (GnomAD_exomes)
A=0.30917/37344 (ExAC)
A=0.328657/328 (GoNL)
A=0.332382/1281 (ALSPAC)
A=0.341193/1709 (1000Genomes)
A=0.344459/27102 (PAGE_STUDY)
A=0.350268/49020 (GnomAD)
A=0.354639/1315 (TWINSUK)
A=0.35698/94489 (TOPMED)
A=0.363108/687 (HapMap)
A=0.363296/194 (MGP)
A=0.407407/88 (Qatari)
A=0.431818/38 (PRJEB36033)
HGVS:: NC_000016.10:g.88646828A>G, NC_000016.10:g.88646828A>T, NC_000016.9:g.88713236A>G, NC_000016.9:g.88713236A>T, NG_007291.1:g.9222T>C, NG_007291.1:g.9222T>A, NM_000101.4:c.214T>C, NM_000101.4:c.214T>A, NM_000101.3:c.214T>C, NM_000101.3:c.214T>A, XM_011522905.4:c.214T>C, XM_011522905.4:c.214T>A, XM_011522905.3:c.214T>C, XM_011522905.3:c.214T>A, XM_011522905.2:c.214T>C, XM_011522905.2:c.214T>A, XM_011522905.1:c.214T>C, XM_011522905.1:c.214T>A, NP_000092.2:p.Tyr72His, NP_000092.2:p.Tyr72Asn, XP_011521207.1:p.Tyr72His, XP_011521207.1:p.Tyr72Asn

PubMed

Select item 50366.

rs5036 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:44261577 (GRCh38)
17:42338945 (GRCh37)
Canonical SPDI:: NC_000017.11:44261576:T:C
Gene:: SLC4A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Clinical significance:: pathogenic,benign-likely-benign,benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.029842/9246 (ALFA)
C=0.003289/1 (FINRISK)
C=0.011667/7 (NorthernSweden)
C=0.016032/16 (GoNL)
C=0.01753/65 (TWINSUK)
C=0.01808/81 (Estonian)
C=0.021796/84 (ALSPAC)
C=0.022472/12 (MGP)
C=0.025/1 (GENOME_DK)
C=0.042433/5151 (ExAC)
C=0.044606/11216 (GnomAD_exomes)
C=0.050016/7010 (GnomAD)
C=0.058211/15408 (TOPMED)
C=0.060185/13 (Qatari)
C=0.065428/328 (1000Genomes)
C=0.082278/65 (PRJEB37584)
C=0.096981/7632 (PAGE_STUDY)
C=0.105895/194 (Korea1K)
C=0.114676/336 (KOREAN)
C=0.183842/3081 (TOMMO)
T=0.478261/44 (SGDP_PRJ)
T=0.5/2 (Siberian)
HGVS:: NC_000017.11:g.44261577T>C, NC_000017.10:g.42338945T>C, NG_007498.1:g.11558A>G, NM_000342.4:c.166A>G, NM_000342.3:c.166A>G, XM_005257593.6:c.-30A>G, XM_005257593.5:c.-30A>G, XM_005257593.4:c.-30A>G, XM_005257593.3:c.-30A>G, XM_005257593.2:c.-30A>G, XM_005257593.1:c.-30A>G, XM_011525129.3:c.166A>G, XM_011525129.2:c.166A>G, XM_011525129.1:c.166A>G, XM_011525130.2:c.166A>G, XM_011525130.1:c.166A>G, NP_000333.1:p.Lys56Glu, XP_011523431.1:p.Lys56Glu, XP_011523432.1:p.Lys56Glu

Select item 50517.

rs5051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:230714126 (GRCh38)
1:230849872 (GRCh37)
Canonical SPDI:: NC_000001.11:230714125:C:A,NC_000001.11:230714125:C:G,NC_000001.11:230714125:C:T
Gene:: AGT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Clinical significance:: benign,risk-factor,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.446618/62907 (ALFA)
G=0./0 (KOREAN)
C=0.175764/322 (Korea1K)
C=0.182616/3061 (TOMMO)
C=0.201681/96 (SGDP_PRJ)
C=0.207908/163 (PRJEB37584)
C=0.249778/19657 (PAGE_STUDY)
C=0.265856/503 (HapMap)
C=0.28654/1435 (1000Genomes)
T=0.3/12 (GENOME_DK)
C=0.347826/16 (Siberian)
C=0.351064/66 (PharmGKB)
T=0.385/231 (NorthernSweden)
C=0.389875/103196 (TOPMED)
T=0.395693/1525 (ALSPAC)
T=0.397796/397 (GoNL)
C=0.407407/88 (Qatari)
T=0.412621/1530 (TWINSUK)
C=0.417986/58462 (GnomAD)
T=0.477009/2137 (Estonian)
HGVS:: NC_000001.11:g.230714126C>A, NC_000001.11:g.230714126C>G, NC_000001.11:g.230714126C>T, NC_000001.10:g.230849872C>A, NC_000001.10:g.230849872C>G, NC_000001.10:g.230849872C>T, NG_008836.2:g.5465G>T, NG_008836.2:g.5465G>C, NG_008836.2:g.5465G>A, NM_000029.3:c.-44G>T, NM_000029.3:c.-44G>C, NM_000029.3:c.-44G>A

PubMed

Select item 50828.

rs5082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:161223893 (GRCh38)
1:161193683 (GRCh37)
Canonical SPDI:: NC_000001.11:161223892:G:A,NC_000001.11:161223892:G:C,NC_000001.11:161223892:G:T
Gene:: APOA2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.373136/93143 (ALFA)
T=0./0 (KOREAN)
G=0.06066/1017 (TOMMO)
G=0.070755/15 (Vietnamese)
G=0.071066/56 (PRJEB37584)
G=0.071507/131 (Korea1K)
G=0.174812/93 (SGDP_PRJ)
G=0.198732/376 (HapMap)
G=0.2/10 (Siberian)
G=0.227397/17752 (PAGE_STUDY)
G=0.238445/1194 (1000Genomes)
G=0.275/11 (GENOME_DK)
G=0.306139/81032 (TOPMED)
G=0.319444/69 (Qatari)
G=0.320183/349 (PharmGKB)
G=0.323999/45343 (GnomAD)
G=0.357143/20 (PRJEB36033)
G=0.366667/220 (NorthernSweden)
G=0.383757/1479 (ALSPAC)
G=0.384304/1425 (TWINSUK)
G=0.41984/419 (GoNL)
G=0.449107/2012 (Estonian)
HGVS:: NC_000001.11:g.161223893G>A, NC_000001.11:g.161223893G>C, NC_000001.11:g.161223893G>T, NC_000001.10:g.161193683G>A, NC_000001.10:g.161193683G>C, NC_000001.10:g.161193683G>T, NG_012043.1:g.4736C>T, NG_012043.1:g.4736C>G, NG_012043.1:g.4736C>A

PubMed

Select item 51109.

rs5110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:116820918 (GRCh38)
11:116691634 (GRCh37)
Canonical SPDI:: NC_000011.10:116820917:C:A,NC_000011.10:116820917:C:G
Gene:: APOA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic,benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.070617/21048 (ALFA)
A=0.024047/120 (1000Genomes)
A=0.029188/2297 (PAGE_STUDY)
A=0.033691/44 (HapMap)
A=0.04886/60 (PharmGKB)
A=0.052285/13128 (GnomAD_exomes)
A=0.05244/6342 (ExAC)
A=0.053267/7471 (GnomAD)
A=0.074906/40 (MGP)
A=0.087648/325 (TWINSUK)
A=0.088176/88 (GoNL)
A=0.094447/364 (ALSPAC)
A=0.096667/58 (NorthernSweden)
A=0.1/4 (GENOME_DK)
C=0.5/11 (SGDP_PRJ)
C=0.5/2 (Siberian)
HGVS:: NC_000011.10:g.116820918C>A, NC_000011.10:g.116820918C>G, NC_000011.9:g.116691634C>A, NC_000011.9:g.116691634C>G, NG_012044.1:g.7378G>T, NG_012044.1:g.7378G>C, NM_000482.4:c.1140G>T, NM_000482.4:c.1140G>C, NM_000482.3:c.1140G>T, NM_000482.3:c.1140G>C, NP_000473.2:p.Gln380His, NP_000473.2:p.Gln380His

PubMed

Select item 512210.

rs5122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44948823 (GRCh38)
19:45452080 (GRCh37)
Canonical SPDI:: NC_000019.10:44948822:G:A
Gene:: APOC2 (Varview), APOC4-APOC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: pathogenic,benign-likely-benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000261/52 (ALFA)
A=0.000482/121 (GnomAD_exomes)
A=0.000588/71 (ExAC)
A=0.001562/8 (1000Genomes)
A=0.002274/602 (TOPMED)
A=0.00229/321 (GnomAD)
A=0.00463/1 (Qatari)
A=0.005639/3 (HapMap)
HGVS:: NC_000019.10:g.44948823G>A, NC_000019.9:g.45452080G>A, NG_008837.1:g.7838G>A, NM_000483.5:c.178G>A, NM_000483.4:c.178G>A, NR_037932.1:n.1385G>A, NP_000474.2:p.Glu60Lys

Select item 512611.

rs5126 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:44949172 (GRCh38)
19:45452429 (GRCh37)
Canonical SPDI:: NC_000019.10:44949171:A:C
Gene:: APOC2 (Varview), APOC4-APOC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: pathogenic,benign-likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00077/154 (ALFA)
C=0.001828/459 (GnomAD_exomes)
C=0.002375/276 (ExAC)
C=0.007841/1098 (GnomAD)
C=0.008255/2185 (TOPMED)
C=0.008901/45 (1000Genomes)
C=0.009259/2 (Qatari)
C=0.012185/959 (PAGE_STUDY)
C=0.021341/7 (HapMap)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.44949172A>C, NC_000019.9:g.45452429A>C, NG_008837.1:g.8187A>C, NM_000483.5:c.229A>C, NM_000483.4:c.229A>C, NR_037932.1:n.1436A>C, NP_000474.2:p.Lys77Gln

Select item 529012.

rs5290 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:142876370 (GRCh38)
8:143957786 (GRCh37)
Canonical SPDI:: NC_000008.11:142876369:A:C,NC_000008.11:142876369:A:G
Gene:: CYP11B1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,stop_gained
Clinical significance:: uncertain-significance,likely-pathogenic,benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000915/41 (ALFA)
G=0.000892/224 (GnomAD_exomes)
G=0.001145/132 (ExAC)
G=0.003279/16 (1000Genomes)
G=0.003379/474 (GnomAD)
G=0.003537/46 (GoESP)
G=0.003823/1012 (TOPMED)
G=0.019417/4 (HapMap)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.142876370A>C, NC_000008.11:g.142876370A>G, NC_000008.10:g.143957786A>C, NC_000008.10:g.143957786A>G, NG_007954.1:g.8451T>G, NG_007954.1:g.8451T>C, NM_000497.4:c.825T>G, NM_000497.4:c.825T>C, NM_000497.3:c.825T>G, NM_000497.3:c.825T>C, NM_001026213.1:c.825T>G, NM_001026213.1:c.825T>C, NG_046132.1:g.2237A>C, NG_046132.1:g.2237A>G, NP_000488.3:p.Tyr275Ter, NP_001021384.1:p.Tyr275Ter

Select item 573613.

rs5736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:23189600 (GRCh38)
16:23200921 (GRCh37)
Canonical SPDI:: NC_000016.10:23189599:G:A
Gene:: SCNN1G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-benign,pathogenic,benign,benign-likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002693/816 (ALFA)
A=0.000223/1 (Estonian)
A=0.000809/3 (TWINSUK)
A=0.001002/1 (GoNL)
A=0.001038/4 (ALSPAC)
A=0.004088/1028 (GnomAD_exomes)
A=0.004464/5 (Daghestan)
A=0.004753/577 (ExAC)
A=0.006494/4 (Vietnamese)
A=0.008214/24 (KOREAN)
A=0.009259/2 (Qatari)
A=0.011997/201 (TOMMO)
A=0.012057/1691 (GnomAD)
A=0.01314/3478 (TOPMED)
A=0.013741/69 (1000Genomes)
A=0.014738/27 (Korea1K)
A=0.019378/1525 (PAGE_STUDY)
A=0.044242/63 (HapMap)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000016.10:g.23189600G>A, NC_000016.9:g.23200921G>A, NG_011909.1:g.11882G>A, NM_001039.4:c.547G>A, NM_001039.3:c.547G>A, NP_001030.2:p.Gly183Ser

Select item 573814.

rs5738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:23189642 (GRCh38)
16:23200963 (GRCh37)
Canonical SPDI:: NC_000016.10:23189641:G:A,NC_000016.10:23189641:G:C
Gene:: SCNN1G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic,benign,uncertain-significance,likely-benign,benign-likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.008768/2725 (ALFA)
A=0.000071/1 (TOMMO)
A=0.002498/13 (1000Genomes)
A=0.003348/15 (Estonian)
A=0.004008/4 (GoNL)
A=0.004396/346 (PAGE_STUDY)
A=0.004731/574 (ExAC)
A=0.005027/1264 (GnomAD_exomes)
A=0.005482/769 (GnomAD)
A=0.005958/1577 (TOPMED)
A=0.007491/4 (MGP)
A=0.007551/28 (TWINSUK)
A=0.0096/37 (ALSPAC)
A=0.012371/12 (HapMap)
A=0.013889/3 (Qatari)
A=0.025/1 (GENOME_DK)
HGVS:: NC_000016.10:g.23189642G>A, NC_000016.10:g.23189642G>C, NC_000016.9:g.23200963G>A, NC_000016.9:g.23200963G>C, NG_011909.1:g.11924G>A, NG_011909.1:g.11924G>C, NM_001039.4:c.589G>A, NM_001039.4:c.589G>C, NM_001039.3:c.589G>A, NM_001039.3:c.589G>C, NP_001030.2:p.Glu197Lys, NP_001030.2:p.Glu197Gln

Select item 602515.

rs6025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:169549811 (GRCh38)
1:169519049 (GRCh37)
Canonical SPDI:: NC_000001.11:169549810:C:A,NC_000001.11:169549810:C:T
Gene:: F5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign,conflicting-interpretations-of-pathogenicity,uncertain-significance,pathogenic,risk-factor
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.022585/3828 (ALFA)
T=0./0 (KOREAN)
T=0.005934/38 (1000Genomes)
T=0.006175/486 (PAGE_STUDY)
T=0.008818/10 (HapMap)
T=0.016744/4432 (TOPMED)
T=0.017619/2471 (GnomAD)
HGVS:: NC_000001.11:g.169549811C>A, NC_000001.11:g.169549811C>T, NC_000001.10:g.169519049T>C, NC_000001.10:g.169519049T>A, NG_011806.1:g.41721G>T, NG_011806.1:g.41721G>A, NM_000130.5:c.1601G>T, NM_000130.5:c.1601G>A, NM_000130.4:c.1601G>T, NM_000130.4:c.1601G>A, NP_000121.2:p.Arg534Leu, NP_000121.2:p.Arg534Gln

PubMed

Select item 605416.

rs6054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:154568456 (GRCh38)
4:155489608 (GRCh37)
Canonical SPDI:: NC_000004.12:154568455:C:T
Gene:: FGB (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Clinical significance:: conflicting-interpretations-of-pathogenicity,likely-pathogenic,likely-benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.003944/1159 (ALFA)
T=0./0 (PRJEB36033)
T=0.000223/1 (Estonian)
T=0.000342/1 (KOREAN)
T=0.000781/4 (1000Genomes)
T=0.001029/81 (PAGE_STUDY)
T=0.001416/24 (TOMMO)
T=0.002352/591 (GnomAD_exomes)
T=0.002431/295 (ExAC)
T=0.002482/657 (TOPMED)
T=0.00275/385 (GnomAD)
T=0.003067/1 (HapMap)
T=0.003152/41 (GoESP)
T=0.003289/1 (FINRISK)
T=0.005708/22 (ALSPAC)
T=0.006667/4 (NorthernSweden)
T=0.006742/25 (TWINSUK)
T=0.007014/7 (GoNL)
HGVS:: NC_000004.12:g.154568456C>T, NC_000004.11:g.155489608C>T, NG_008833.1:g.10477C>T, NM_005141.5:c.794C>T, NM_005141.4:c.794C>T, NM_001382763.1:c.794C>T, NM_001382765.1:c.794C>T, NM_001382761.1:c.794C>T, NM_001382759.1:c.662C>T, NM_001382764.1:c.794C>T, NM_001184741.1:c.617C>T, NM_001382760.1:c.794C>T, NP_005132.2:p.Pro265Leu, NP_001369692.1:p.Pro265Leu, NP_001369694.1:p.Pro265Leu, NP_001369690.1:p.Pro265Leu, NP_001369688.1:p.Pro221Leu, NP_001369693.1:p.Pro265Leu, NP_001171670.1:p.Pro206Leu, NP_001369689.1:p.Pro265Leu

PubMed

Select item 606317.

rs6063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:154609725 (GRCh38)
4:155530877 (GRCh37)
Canonical SPDI:: NC_000004.12:154609724:C:T
Gene:: FGG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance,benign,likely-benign,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.005155/1047 (ALFA)
T=0.001761/2 (Daghestan)
T=0.001786/8 (Estonian)
T=0.002541/200 (PAGE_STUDY)
T=0.002705/328 (ExAC)
T=0.00281/706 (GnomAD_exomes)
T=0.002967/15 (1000Genomes)
T=0.003389/475 (GnomAD)
T=0.003646/965 (TOPMED)
T=0.003745/2 (MGP)
T=0.003776/14 (TWINSUK)
T=0.005/3 (NorthernSweden)
T=0.006012/6 (GoNL)
T=0.006746/26 (ALSPAC)
T=0.008316/8 (HapMap)
T=0.04/2 (PRJEB36033)
HGVS:: NC_000004.12:g.154609725C>T, NC_000004.11:g.155530877C>T, NG_008834.1:g.8026G>A, NM_000509.6:c.571G>A, NM_000509.5:c.571G>A, NM_000509.4:c.571G>A, NM_021870.3:c.571G>A, NM_021870.2:c.571G>A, NP_000500.2:p.Gly191Arg, NP_068656.2:p.Gly191Arg

PubMed

Select item 612218.

rs6122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:93927251 (GRCh38)
3:93646095 (GRCh37)
Canonical SPDI:: NC_000003.12:93927250:G:A
Gene:: PROS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-pathogenic,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000049/9 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000052/13 (GnomAD_exomes)
A=0.000057/15 (TOPMED)
A=0.000058/7 (ExAC)
A=0.000071/1 (TOMMO)
A=0.000156/1 (1000Genomes)
A=0.000259/1 (ALSPAC)
A=0.00027/1 (TWINSUK)
HGVS:: NC_000003.12:g.93927251G>A, NC_000003.11:g.93646095G>A, NG_009813.1:g.51840C>T, NM_000313.4:c.233C>T, NM_000313.3:c.233C>T, NM_001314077.2:c.329C>T, NM_001314077.1:c.329C>T, NP_000304.2:p.Thr78Met, NP_001301006.1:p.Thr110Met

PubMed

Select item 618919.

rs6189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:143400774 (GRCh38)
5:142780339 (GRCh37)
Canonical SPDI:: NC_000005.10:143400773:C:A,NC_000005.10:143400773:C:T
Gene:: NR3C1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant,synonymous_variant
Clinical significance:: benign,benign-likely-benign,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.023647/4114 (ALFA)
T=0./0 (KOREAN)
T=0.005858/461 (PAGE_STUDY)
T=0.009506/5 (PharmGKB)
T=0.009681/48 (1000Genomes)
T=0.013109/7 (MGP)
T=0.014889/3941 (TOPMED)
T=0.016848/2363 (GnomAD)
T=0.017837/2163 (ExAC)
T=0.020913/272 (GoESP)
T=0.022321/100 (Estonian)
T=0.023026/7 (FINRISK)
T=0.025/1 (GENOME_DK)
T=0.025801/29 (Daghestan)
T=0.026969/100 (TWINSUK)
T=0.027054/27 (GoNL)
T=0.028333/17 (NorthernSweden)
T=0.030358/117 (ALSPAC)
C=0.5/10 (SGDP_PRJ)
C=0.5/2 (Siberian)
HGVS:: NC_000005.10:g.143400774C>A, NC_000005.10:g.143400774C>T, NC_000005.9:g.142780339C>A, NC_000005.9:g.142780339C>T, NG_009062.1:g.39739G>T, NG_009062.1:g.39739G>A, NM_000176.3:c.66G>T, NM_000176.3:c.66G>A, NM_000176.2:c.66G>T, NM_000176.2:c.66G>A, NM_001024094.2:c.66G>T, NM_001024094.2:c.66G>A, NM_001024094.1:c.66G>T, NM_001024094.1:c.66G>A, NM_001204264.2:c.-940G>T, NM_001204264.2:c.-940G>A, NM_001204264.1:c.-940G>T, NM_001204264.1:c.-940G>A, NM_001204263.2:c.-925G>T, NM_001204263.2:c.-925G>A, NM_001204263.1:c.-925G>T, NM_001204263.1:c.-925G>A, NM_001204262.2:c.-880G>T, NM_001204262.2:c.-880G>A, NM_001204262.1:c.-880G>T, NM_001204262.1:c.-880G>A, NM_001204261.2:c.-226G>T, NM_001204261.2:c.-226G>A, NM_001204261.1:c.-226G>T, NM_001204261.1:c.-226G>A, NM_001204260.2:c.-202G>T, NM_001204260.2:c.-202G>A, NM_001204260.1:c.-202G>T, NM_001204260.1:c.-202G>A, NM_001204259.2:c.-190G>T, NM_001204259.2:c.-190G>A, NM_001204259.1:c.-190G>T, NM_001204259.1:c.-190G>A, NM_001204258.2:c.-13G>T, NM_001204258.2:c.-13G>A, NM_001204258.1:c.-13G>T, NM_001204258.1:c.-13G>A, NM_001364183.2:c.66G>T, NM_001364183.2:c.66G>A, NM_001364183.1:c.66G>T, NM_001364183.1:c.66G>A, NM_001364181.2:c.66G>T, NM_001364181.2:c.66G>A, NM_001364181.1:c.66G>T, NM_001364181.1:c.66G>A, NM_001364180.2:c.66G>T, NM_001364180.2:c.66G>A, NM_001364180.1:c.66G>T, NM_001364180.1:c.66G>A, NM_001364184.2:c.66G>T, NM_001364184.2:c.66G>A, NM_001364184.1:c.66G>T, NM_001364184.1:c.66G>A, NM_001018076.2:c.66G>T, NM_001018076.2:c.66G>A, NM_001018076.1:c.66G>T, NM_001018076.1:c.66G>A, NM_001020825.2:c.66G>T, NM_001020825.2:c.66G>A, NM_001020825.1:c.66G>T, NM_001020825.1:c.66G>A, NM_001204265.2:c.66G>T, NM_001204265.2:c.66G>A, NM_001204265.1:c.66G>T, NM_001204265.1:c.66G>A, NM_001018077.1:c.66G>T, NM_001018077.1:c.66G>A, NM_001364185.1:c.66G>T, NM_001364185.1:c.66G>A, NM_001364182.1:c.66G>T, NM_001364182.1:c.66G>A, NM_001018074.1:c.66G>T, NM_001018074.1:c.66G>A, NM_001018075.1:c.66G>T, NM_001018075.1:c.66G>A, NP_000167.1:p.Glu22Asp, NP_001019265.1:p.Glu22Asp, NP_001351112.1:p.Glu22Asp, NP_001351110.1:p.Glu22Asp, NP_001351109.1:p.Glu22Asp, NP_001351113.1:p.Glu22Asp, NP_001018086.1:p.Glu22Asp, NP_001018661.1:p.Glu22Asp, NP_001191194.1:p.Glu22Asp, NP_001018087.1:p.Glu22Asp, NP_001351114.1:p.Glu22Asp, NP_001351111.1:p.Glu22Asp, NP_001018084.1:p.Glu22Asp, NP_001018085.1:p.Glu22Asp

PubMed

Select item 625620.

rs6256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:13492506 (GRCh38)
11:13514053 (GRCh37)
Canonical SPDI:: NC_000011.10:13492505:G:A,NC_000011.10:13492505:G:T
Gene:: PTH (Varview)
Functional Consequence:: synonymous_variant,stop_gained,coding_sequence_variant
Clinical significance:: likely-pathogenic,pathogenic,benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.125234/6955 (ALFA)
T=0.099229/1663 (TOMMO)
T=0.103659/34 (HapMap)
T=0.109836/67 (Vietnamese)
T=0.121512/32163 (TOPMED)
T=0.125546/230 (Korea1K)
T=0.128333/77 (NorthernSweden)
T=0.129021/377 (KOREAN)
T=0.145313/651 (Estonian)
T=0.149299/149 (GoNL)
T=0.149438/748 (1000Genomes)
T=0.152318/46 (FINRISK)
T=0.153182/568 (TWINSUK)
T=0.15698/605 (ALSPAC)
T=0.161057/19544 (ExAC)
T=0.166667/89 (MGP)
T=0.319444/69 (Qatari)
G=0.426667/64 (SGDP_PRJ)
G=0.5/6 (Siberian)
HGVS:: NC_000011.10:g.13492506G>A, NC_000011.10:g.13492506G>T, NC_000011.9:g.13514053G>A, NC_000011.9:g.13514053G>T, NG_008962.1:g.8515C>T, NG_008962.1:g.8515C>A, NM_000315.4:c.247C>T, NM_000315.4:c.247C>A, NM_000315.3:c.247C>T, NM_000315.3:c.247C>A, NM_000315.2:c.247C>T, NM_000315.2:c.247C>A, NM_001316352.2:c.343C>T, NM_001316352.2:c.343C>A, NM_001316352.1:c.343C>T, NM_001316352.1:c.343C>A, NP_000306.1:p.Arg83Ter, NP_001303281.1:p.Arg115Ter

PubMed

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