NDUFA1 - SNP

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Select item 7084631.

rs708463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: X:119871742 (GRCh38)
X:119005705 (GRCh37)
Canonical SPDI:: NC_000023.11:119871741:C:A,NC_000023.11:119871741:C:G,NC_000023.11:119871741:C:T
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.370067/3526 (ALFA)
T=0.000125/13 (GnomAD)
C=0.00788/101 (TOMMO)
C=0.014099/41 (KOREAN)
C=0.041667/2 (Vietnamese)
C=0.058824/2 (Siberian)
C=0.064935/30 (SGDP_PRJ)
C=0.177914/58 (HapMap)
G=0.192884/103 (MGP)
C=0.193132/729 (1000Genomes)
C=0.203704/22 (Qatari)
C=0.263818/69830 (TOPMED)
C=0.475/19 (GENOME_DK)
HGVS:: NC_000023.11:g.119871742C>A, NC_000023.11:g.119871742C>G, NC_000023.11:g.119871742C>T, NC_000023.10:g.119005705C>A, NC_000023.10:g.119005705C>G, NC_000023.10:g.119005705C>T, NG_009381.1:g.4972C>A, NG_009381.1:g.4972C>G, NG_009381.1:g.4972C>T, NG_021227.1:g.5087G>T, NG_021227.1:g.5087G>C, NG_021227.1:g.5087G>A, NM_006978.2:c.-129G>T, NM_006978.2:c.-129G>C, NM_006978.2:c.-129G>A

Select item 18008232.

rs1800823 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119871624 (GRCh38)
X:119005587 (GRCh37)
Canonical SPDI:: NC_000023.11:119871623:T:C
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.069551/8656 (ALFA)
C=0.05/2 (GENOME_DK)
C=0.053937/200 (TWINSUK)
C=0.054307/29 (MGP)
C=0.055729/161 (ALSPAC)
C=0.080633/11726 (GnomAD_exomes)
C=0.081266/845 (GoESP)
C=0.083213/6448 (ExAC)
C=0.088485/9290 (GnomAD)
C=0.093023/8 (PRJEB36033)
C=0.098561/26088 (TOPMED)
C=0.11488/434 (1000Genomes)
C=0.123888/195 (HapMap)
C=0.138889/15 (Qatari)
C=0.191701/559 (KOREAN)
C=0.194546/2498 (TOMMO)
C=0.210884/31 (Vietnamese)
T=0.214286/24 (SGDP_PRJ)
T=0.25/2 (Siberian)
HGVS:: NC_000023.11:g.119871624T>C, NC_000023.10:g.119005587T>C, NG_009381.1:g.4854T>C, NG_021227.1:g.5205A>G, NM_006978.3:c.-11A>G, NM_006978.2:c.-11A>G

PubMed LitVar

Select item 18008243.

rs1800824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:119873266 (GRCh38)
X:119007229 (GRCh37)
Canonical SPDI:: NC_000023.11:119873265:T:C,NC_000023.11:119873265:T:G
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.040596/1074 (ALFA)
G=0.05/2 (GENOME_DK)
G=0.052434/28 (MGP)
G=0.053668/199 (TWINSUK)
G=0.055382/160 (ALSPAC)
G=0.078426/14357 (GnomAD_exomes)
G=0.082175/7175 (ExAC)
G=0.083333/2 (PRJEB36033)
G=0.088611/936 (GoESP)
T=0.1/1 (Siberian)
G=0.106707/35 (HapMap)
G=0.113215/427 (1000Genomes)
G=0.12037/13 (Qatari)
G=0.193515/567 (KOREAN)
G=0.194492/2498 (TOMMO)
G=0.202703/30 (Vietnamese)
T=0.209091/23 (SGDP_PRJ)
HGVS:: NC_000023.11:g.119873266T>C, NC_000023.11:g.119873266T>G, NC_000023.10:g.119007229T>C, NC_000023.10:g.119007229T>G, NG_009381.1:g.6496T>C, NG_009381.1:g.6496T>G, NG_021227.1:g.3563A>G, NG_021227.1:g.3563A>C

PubMed LitVar

Select item 18013164.

rs1801316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: X:119872005 (GRCh38)
X:119005968 (GRCh37)
Canonical SPDI:: NC_000023.11:119872004:G:A,NC_000023.11:119872004:G:C,NC_000023.11:119872004:G:T
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: likely-benign,uncertain-significance,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00727/675 (ALFA)
C=0.00083/3 (1000Genomes)
C=0.00672/71 (GoESP)
C=0.00944/35 (TWINSUK)
C=0.01124/6 (MGP)
C=0.01385/40 (ALSPAC)
HGVS:: NC_000023.11:g.119872005G>A, NC_000023.11:g.119872005G>C, NC_000023.11:g.119872005G>T, NC_000023.10:g.119005968G>A, NC_000023.10:g.119005968G>C, NC_000023.10:g.119005968G>T, NG_009381.1:g.5235G>A, NG_009381.1:g.5235G>C, NG_009381.1:g.5235G>T, NM_004541.4:c.94G>A, NM_004541.4:c.94G>C, NM_004541.4:c.94G>T, NM_004541.3:c.94G>A, NM_004541.3:c.94G>C, NM_004541.3:c.94G>T, NG_021227.1:g.4824C>T, NG_021227.1:g.4824C>G, NG_021227.1:g.4824C>A, NP_004532.1:p.Gly32Arg, NP_004532.1:p.Gly32Arg, NP_004532.1:p.Gly32Trp

PubMed

Select item 18589345.

rs1858934 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: X:119870442 (GRCh38)
X:119004405 (GRCh37)
Canonical SPDI:: NC_000023.11:119870441:T:A,NC_000023.11:119870441:T:C,NC_000023.11:119870441:T:G
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.483505/9673 (ALFA)
G=0./0 (KOREAN)
T=0.1/3 (Siberian)
T=0.122905/44 (SGDP_PRJ)
T=0.202538/2601 (TOMMO)
T=0.270833/13 (Vietnamese)
T=0.382196/717 (HapMap)
T=0.388889/42 (Qatari)
T=0.397294/1500 (1000Genomes)
T=0.416667/20 (PRJEB36033)
A=0.425/17 (GENOME_DK)
T=0.458604/121388 (TOPMED)
T=0.496224/1840 (TWINSUK)
A=0.499135/1442 (ALSPAC)
HGVS:: NC_000023.11:g.119870442T>A, NC_000023.11:g.119870442T>C, NC_000023.11:g.119870442T>G, NC_000023.10:g.119004405T>A, NC_000023.10:g.119004405T>C, NC_000023.10:g.119004405T>G, NG_009381.1:g.3672T>A, NG_009381.1:g.3672T>C, NG_009381.1:g.3672T>G, NG_021227.1:g.6387A>T, NG_021227.1:g.6387A>G, NG_021227.1:g.6387A>C

Select item 22855536.

rs2285553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:119876464 (GRCh38)
X:119010427 (GRCh37)
Canonical SPDI:: NC_000023.11:119876463:C:A
Gene:: NDUFA1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.058879/10398 (ALFA)
A=0./0 (PRJEB36033)
A=0.05/2 (GENOME_DK)
A=0.050562/27 (MGP)
A=0.054207/201 (TWINSUK)
A=0.055382/160 (ALSPAC)
A=0.059358/627 (GoESP)
A=0.059525/6135 (GnomAD)
A=0.066659/17644 (TOPMED)
A=0.071714/13115 (GnomAD_exomes)
A=0.073516/6450 (ExAC)
A=0.083871/317 (1000Genomes)
A=0.091005/172 (HapMap)
C=0.1/1 (Siberian)
A=0.111111/12 (Qatari)
A=0.192833/565 (KOREAN)
A=0.194663/2500 (TOMMO)
A=0.209459/31 (Vietnamese)
C=0.234694/23 (SGDP_PRJ)
HGVS:: NC_000023.11:g.119876464C>A, NC_000023.10:g.119010427C>A, NG_009381.1:g.9694C>A, NG_021227.1:g.365G>T

Select item 24282207.

rs2428220 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:119873060 (GRCh38)
X:119007023 (GRCh37)
Canonical SPDI:: NC_000023.11:119873059:T:A
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.39197/6235 (ALFA)
T=0.26603/83 (SGDP_PRJ)
T=0.27273/6 (Siberian)
A=0.34476/996 (ALSPAC)
T=0.34592/4441 (TOMMO)
A=0.34628/1284 (TWINSUK)
A=0.43524/40544 (GnomAD)
A=0.4537/49 (Qatari)
T=0.49453/1446 (KOREAN)
HGVS:: NC_000023.11:g.119873060T>A, NC_000023.10:g.119007023T>A, NG_009381.1:g.6290T>A, NG_021227.1:g.3769A>T

Select item 32141248.

rs3214124 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: X:119873169 (GRCh38)
X:119007132 (GRCh37)
Canonical SPDI:: NC_000023.11:119873168:TTT:TT
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.078221/1099 (ALFA)
-=0.05/2 (GENOME_DK)
-=0.053128/197 (TWINSUK)
-=0.055382/160 (ALSPAC)
-=0.08765/8813 (GnomAD)
-=0.096199/25463 (TOPMED)
-=0.113215/427 (1000Genomes)
-=0.194573/2499 (TOMMO)
-=0.25/12 (Vietnamese)
HGVS:: NC_000023.11:g.119873171del, NC_000023.10:g.119007134del, NG_009381.1:g.6401del, NG_021227.1:g.3660del

Select item 59106979.

rs5910697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:119873028 (GRCh38)
X:119006991 (GRCh37)
Canonical SPDI:: NC_000023.11:119873027:A:C,NC_000023.11:119873027:A:G
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.059956/15085 (ALFA)
G=0./0 (PRJEB36033)
G=0.05/2 (GENOME_DK)
G=0.053128/197 (TWINSUK)
G=0.055382/160 (ALSPAC)
G=0.096407/25518 (TOPMED)
G=0.113215/427 (1000Genomes)
G=0.12037/13 (Qatari)
A=0.125/1 (Siberian)
G=0.129101/244 (HapMap)
G=0.150672/314 (HGDP_Stanford)
G=0.19186/561 (KOREAN)
G=0.194483/2497 (TOMMO)
A=0.209091/23 (SGDP_PRJ)
HGVS:: NC_000023.11:g.119873028A>C, NC_000023.11:g.119873028A>G, NC_000023.10:g.119006991A>C, NC_000023.10:g.119006991A>G, NG_009381.1:g.6258A>C, NG_009381.1:g.6258A>G, NG_021227.1:g.3801T>G, NG_021227.1:g.3801T>C

Select item 591069810.

rs5910698 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:119873061 (GRCh38)
X:119007024 (GRCh37)
Canonical SPDI:: NC_000023.11:119873060:A:T
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.07183/852 (ALFA)
T=0.09815/7711 (GnomAD)
T=0.11868/448 (1000Genomes)
T=0.12963/14 (Qatari)
A=0.16667/1 (Siberian)
T=0.1948/2430 (TOMMO)
T=0.19562/572 (KOREAN)
A=0.2807/32 (SGDP_PRJ)
HGVS:: NC_000023.11:g.119873061A>T, NC_000023.10:g.119007024A>T, NG_009381.1:g.6291A>T, NG_021227.1:g.3768T>A

Select item 5780896311.

rs57808963 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAAA [Show Flanks]
Chromosome:: X:119873068 (GRCh38)
X:119007031 (GRCh37)
Canonical SPDI:: NC_000023.11:119873060:AAAAAAAAA:AAAAAAA,NC_000023.11:119873060:AAAAAAAAA:AAAAAAAA,NC_000023.11:119873060:AAAAAAAAA:AAAAAAAAAA,NC_000023.11:119873060:AAAAAAAAA:AAAAAAAAAAAA
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0.00564/76 (ALFA)
A=0.06791/872 (TOMMO)
HGVS:: NC_000023.11:g.119873068_119873069del, NC_000023.11:g.119873069del, NC_000023.11:g.119873069dup, NC_000023.11:g.119873067_119873069dup, NC_000023.10:g.119007031_119007032del, NC_000023.10:g.119007032del, NC_000023.10:g.119007032dup, NC_000023.10:g.119007030_119007032dup, NG_009381.1:g.6298_6299del, NG_009381.1:g.6299del, NG_009381.1:g.6299dup, NG_009381.1:g.6297_6299dup, NG_021227.1:g.3767_3768del, NG_021227.1:g.3768del, NG_021227.1:g.3768dup, NG_021227.1:g.3766_3768dup

Select item 6722970712.

rs67229707 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: X:119873557 (GRCh38)
X:119007520 (GRCh37)
Canonical SPDI:: NC_000023.11:119873546:TTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:119873546:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:119873546:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:119873546:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0.000256/4 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.119873557_119873558del, NC_000023.11:g.119873558del, NC_000023.11:g.119873558dup, NC_000023.11:g.119873557_119873558dup, NC_000023.10:g.119007520_119007521del, NC_000023.10:g.119007521del, NC_000023.10:g.119007521dup, NC_000023.10:g.119007520_119007521dup, NG_009381.1:g.6787_6788del, NG_009381.1:g.6788del, NG_009381.1:g.6788dup, NG_009381.1:g.6787_6788dup, NG_021227.1:g.3281_3282del, NG_021227.1:g.3282del, NG_021227.1:g.3282dup, NG_021227.1:g.3281_3282dup

Select item 10489488413.

rs104894884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:119871933 (GRCh38)
X:119005896 (GRCh37)
Canonical SPDI:: NC_000023.11:119871932:G:C
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Clinical significance:: pathogenic
Validated:: by cluster
HGVS:: NC_000023.11:g.119871933G>C, NC_000023.10:g.119005896G>C, NG_009381.1:g.5163G>C, NM_004541.4:c.22G>C, NM_004541.3:c.22G>C, NG_021227.1:g.4896C>G, NP_004532.1:p.Gly8Arg

LitVar

Select item 10489488514.

rs104894885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:119873312 (GRCh38)
X:119007275 (GRCh37)
Canonical SPDI:: NC_000023.11:119873311:G:A,NC_000023.11:119873311:G:C
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: pathogenic
Validated:: by frequency,by cluster
MAF:: A=0.00001/1 (ExAC)
HGVS:: NC_000023.11:g.119873312G>A, NC_000023.11:g.119873312G>C, NC_000023.10:g.119007275G>A, NC_000023.10:g.119007275G>C, NG_009381.1:g.6542G>A, NG_009381.1:g.6542G>C, NM_004541.4:c.111G>A, NM_004541.4:c.111G>C, NM_004541.3:c.111G>A, NM_004541.3:c.111G>C, NG_021227.1:g.3517C>T, NG_021227.1:g.3517C>G, NP_004532.1:p.Arg37Ser

Select item 13999627415.

rs139996274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:119870879 (GRCh38)
X:119004842 (GRCh37)
Canonical SPDI:: NC_000023.11:119870878:C:A
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000422/10 (ALFA)
A=0.000131/24 (GnomAD_exomes)
A=0.000171/15 (ExAC)
A=0.000473/5 (GoESP)
A=0.000522/54 (GnomAD)
A=0.000733/194 (TOPMED)
A=0.000832/3 (1000Genomes)
HGVS:: NC_000023.11:g.119870879C>A, NC_000023.10:g.119004842C>A, NG_009381.1:g.4109C>A, NG_021227.1:g.5950G>T, NM_006978.3:c.735G>T, NM_006978.2:c.735G>T, NP_008909.1:p.Glu245Asp

Select item 14006498016.

rs140064980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:119873342 (GRCh38)
X:119007305 (GRCh37)
Canonical SPDI:: NC_000023.11:119873341:G:C
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
Clinical significance:: likely-benign,benign-likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.002036/56 (ALFA)
C=0.000624/2 (1000Genomes)
C=0.001136/12 (GoESP)
C=0.001934/512 (TOPMED)
C=0.002218/407 (GnomAD_exomes)
C=0.002245/197 (ExAC)
C=0.002336/241 (GnomAD)
C=0.002697/10 (TWINSUK)
C=0.0045/13 (ALSPAC)
C=0.007491/4 (MGP)
HGVS:: NC_000023.11:g.119873342G>C, NC_000023.10:g.119007305G>C, NG_009381.1:g.6572G>C, NM_004541.4:c.141G>C, NM_004541.3:c.141G>C, NG_021227.1:g.3487C>G

Select item 14184016917.

rs141840169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119870889 (GRCh38)
X:119004852 (GRCh37)
Canonical SPDI:: NC_000023.11:119870888:C:T
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000085/15 (ALFA)
T=0.00042/77 (GnomAD_exomes)
T=0.00049/43 (ExAC)
T=0.001515/16 (GoESP)
T=0.001526/404 (TOPMED)
T=0.001702/176 (GnomAD)
T=0.001873/7 (1000Genomes)
HGVS:: NC_000023.11:g.119870889C>T, NC_000023.10:g.119004852C>T, NG_009381.1:g.4119C>T, NG_021227.1:g.5940G>A, NM_006978.3:c.725G>A, NM_006978.2:c.725G>A, NP_008909.1:p.Gly242Asp

Select item 14237724818.

rs142377248 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:119871329 (GRCh38)
X:119005292 (GRCh37)
Canonical SPDI:: NC_000023.11:119871328:A:T
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000565/50 (ALFA)
T=0.000228/20 (ExAC)
T=0.000322/59 (GnomAD_exomes)
T=0.000346/1 (ALSPAC)
T=0.000431/114 (TOPMED)
T=0.000449/46 (GnomAD)
T=0.000473/5 (GoESP)
T=0.001079/4 (TWINSUK)
HGVS:: NC_000023.11:g.119871329A>T, NC_000023.10:g.119005292A>T, NG_009381.1:g.4559A>T, NG_021227.1:g.5500T>A, NM_006978.3:c.285T>A, NM_006978.2:c.285T>A, NP_008909.1:p.Ser95Arg

Select item 14287134619.

rs142871346 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119870608 (GRCh38)
X:119004571 (GRCh37)
Canonical SPDI:: NC_000023.11:119870607:C:T
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.009995/1774 (ALFA)
T=0.002914/11 (1000Genomes)
T=0.007106/1881 (TOPMED)
T=0.007125/740 (GnomAD)
T=0.007195/76 (GoESP)
T=0.008103/689 (ExAC)
T=0.008128/1443 (GnomAD_exomes)
T=0.009692/28 (ALSPAC)
T=0.010248/38 (TWINSUK)
T=0.018727/10 (MGP)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.119870608C>T, NC_000023.10:g.119004571C>T, NG_009381.1:g.3838C>T, NG_021227.1:g.6221G>A, NM_006978.3:c.1006G>A, NM_006978.2:c.1006G>A, NP_008909.1:p.Asp336Asn

Select item 15059150220.

rs150591502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119870851 (GRCh38)
X:119004814 (GRCh37)
Canonical SPDI:: NC_000023.11:119870850:C:T
Gene:: NDUFA1 (Varview), RNF113A (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000797/145 (ALFA)
T=0.000705/73 (GnomAD)
T=0.000718/190 (TOPMED)
T=0.000725/133 (GnomAD_exomes)
T=0.000775/68 (ExAC)
T=0.000809/3 (TWINSUK)
T=0.001041/11 (GoESP)
T=0.001041/4 (1000Genomes)
T=0.001385/4 (ALSPAC)
HGVS:: NC_000023.11:g.119870851C>T, NC_000023.10:g.119004814C>T, NG_009381.1:g.4081C>T, NG_021227.1:g.5978G>A, NM_006978.3:c.763G>A, NM_006978.2:c.763G>A, NP_008909.1:p.Asp255Asn

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