SNP Links for Gene (Select 79078) - SNP

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Select item 14914526741.

rs1491452674 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 1:42766022 (GRCh38)
1:43231694 (GRCh37)
Canonical SPDI:: NC_000001.11:42766022:A:AA,NC_000001.11:42766022:A:AAA
Gene:: P3H1 (Varview), C1orf50 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
AA=0.000323/39 (GnomAD)
HGVS:: NC_000001.11:g.42766023dup, NC_000001.11:g.42766023_42766024insAA, NC_000001.10:g.43231694dup, NC_000001.10:g.43231694_43231695insAA, NG_008123.1:g.6062dup, NG_008123.1:g.6062_6063insTT

Select item 14912189372.

rs1491218937 has merged into rs747617057 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 1:42766014 (GRCh38)
1:43231685 (GRCh37)
Canonical SPDI:: NC_000001.11:42766007:CCCCCCCCC:CCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCCCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000001.11:42766007:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC
Gene:: P3H1 (Varview), C1orf50 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.13648/526 (ALSPAC)
-=0.25/149 (NorthernSweden)
-=0.25626/1084 (Estonian)
-=0.325/13 (GENOME_DK)
C=0.39891/730 (Korea1K)
HGVS:: NC_000001.11:g.42766014_42766016del, NC_000001.11:g.42766015_42766016del, NC_000001.11:g.42766016del, NC_000001.11:g.42766016dup, NC_000001.11:g.42766015_42766016dup, NC_000001.11:g.42766014_42766016dup, NC_000001.11:g.42766016_42766017insCCCCCCCCCCC, NC_000001.11:g.42766016_42766017insCCCCCCCCCCCC, NC_000001.11:g.42766016_42766017insCCCCCCCCCCCCC, NC_000001.11:g.42766016_42766017insCCCCCCCCCCCCCC, NC_000001.10:g.43231685_43231687del, NC_000001.10:g.43231686_43231687del, NC_000001.10:g.43231687del, NC_000001.10:g.43231687dup, NC_000001.10:g.43231686_43231687dup, NC_000001.10:g.43231685_43231687dup, NC_000001.10:g.43231687_43231688insCCCCCCCCCCC, NC_000001.10:g.43231687_43231688insCCCCCCCCCCCC, NC_000001.10:g.43231687_43231688insCCCCCCCCCCCCC, NC_000001.10:g.43231687_43231688insCCCCCCCCCCCCCC, NG_008123.1:g.6075_6077del, NG_008123.1:g.6076_6077del, NG_008123.1:g.6077del, NG_008123.1:g.6077dup, NG_008123.1:g.6076_6077dup, NG_008123.1:g.6075_6077dup, NG_008123.1:g.6077_6078insGGGGGGGGGGG, NG_008123.1:g.6077_6078insGGGGGGGGGGGG, NG_008123.1:g.6077_6078insGGGGGGGGGGGGG, NG_008123.1:g.6077_6078insGGGGGGGGGGGGGG

Select item 14910328313.

rs1491032831 has merged into rs34887733 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 1:42768570 (GRCh38)
1:43234241 (GRCh37)
Canonical SPDI:: NC_000001.11:42768561:TTTTTTTTTT:TTTTTTTT,NC_000001.11:42768561:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:42768561:TTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:42768561:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: P3H1 (Varview), C1orf50 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.234459/1041 (Estonian)
-=0.300467/1158 (ALSPAC)
-=0.305286/1132 (TWINSUK)
-=0.324466/85883 (TOPMED)
-=0.325/13 (GENOME_DK)
-=0.421577/1946 (1000Genomes)
HGVS:: NC_000001.11:g.42768570_42768571del, NC_000001.11:g.42768571del, NC_000001.11:g.42768571dup, NC_000001.11:g.42768570_42768571dup, NC_000001.10:g.43234241_43234242del, NC_000001.10:g.43234242del, NC_000001.10:g.43234242dup, NC_000001.10:g.43234241_43234242dup, NG_008123.1:g.3522_3523del, NG_008123.1:g.3523del, NG_008123.1:g.3523dup, NG_008123.1:g.3522_3523dup

Select item 14902863914.

rs1490286391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42775298 (GRCh38)
1:43240969 (GRCh37)
Canonical SPDI:: NC_000001.11:42775297:G:A
Gene:: C1orf50 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42775298G>A, NC_000001.10:g.43240969G>A, NM_024097.4:c.504G>A, NM_024097.3:c.504G>A, NR_040733.2:n.451G>A, NR_040733.1:n.455G>A

Select item 14899100445.

rs1489910044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:42771212 (GRCh38)
1:43236883 (GRCh37)
Canonical SPDI:: NC_000001.11:42771211:C:G
Gene:: C1orf50 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.42771212C>G, NC_000001.10:g.43236883C>G, NG_008123.1:g.873G>C

Select item 14898945586.

rs1489894558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:42770133 (GRCh38)
1:43235804 (GRCh37)
Canonical SPDI:: NC_000001.11:42770132:T:G
Gene:: C1orf50 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.42770133T>G, NC_000001.10:g.43235804T>G, NG_008123.1:g.1952A>C

Select item 14897977097.

rs1489797709 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:42774723 (GRCh38)
1:43240394 (GRCh37)
Canonical SPDI:: NC_000001.11:42774722:T:G
Gene:: C1orf50 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.42774723T>G, NC_000001.10:g.43240394T>G

Select item 14895791748.

rs1489579174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:42766173 (GRCh38)
1:43231844 (GRCh37)
Canonical SPDI:: NC_000001.11:42766172:G:C
Gene:: P3H1 (Varview), C1orf50 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42766173G>C, NC_000001.10:g.43231844G>C, NG_008123.1:g.5912C>G

Select item 14891379359.

rs1489137935 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>- [Show Flanks]
Chromosome:: 1:42769501 (GRCh38)
1:43235172 (GRCh37)
Canonical SPDI:: NC_000001.11:42769499:CACAC:C
Gene:: C1orf50 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.42769501_42769504del, NC_000001.10:g.43235172_43235175del, NG_008123.1:g.2582_2585del

Select item 148890607210.

rs1488906072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:42767588 (GRCh38)
1:43233259 (GRCh37)
Canonical SPDI:: NC_000001.11:42767587:C:G
Gene:: P3H1 (Varview), C1orf50 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42767588C>G, NC_000001.10:g.43233259C>G, NG_008123.1:g.4497G>C, NM_024097.4:c.159C>G, NM_024097.3:c.159C>G

Select item 148802961411.

rs1488029614 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:42771124 (GRCh38)
1:43236795 (GRCh37)
Canonical SPDI:: NC_000001.11:42771123:A:G
Gene:: C1orf50 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000212/4 (TOMMO)
G=0.000546/1 (Korea1K)
G=0.000684/2 (KOREAN)
HGVS:: NC_000001.11:g.42771124A>G, NC_000001.10:g.43236795A>G, NG_008123.1:g.961T>C

Select item 148796283612.

rs1487962836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42771907 (GRCh38)
1:43237578 (GRCh37)
Canonical SPDI:: NC_000001.11:42771906:G:A
Gene:: C1orf50 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.42771907G>A, NC_000001.10:g.43237578G>A, NG_008123.1:g.178C>T

Select item 148793030913.

rs1487930309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42766775 (GRCh38)
1:43232446 (GRCh37)
Canonical SPDI:: NC_000001.11:42766774:G:A
Gene:: P3H1 (Varview), C1orf50 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42766775G>A, NC_000001.10:g.43232446G>A, NG_008123.1:g.5310C>T, NM_022356.4:c.197C>T, NM_022356.3:c.197C>T, NM_001243246.2:c.197C>T, NM_001243246.1:c.197C>T, NM_001146289.2:c.197C>T, NM_001146289.1:c.197C>T, XR_946739.3:n.254C>T, XR_946739.2:n.254C>T, XR_946739.1:n.254C>T, XM_047427616.1:c.197C>T, NP_071751.3:p.Ala66Val, NP_001230175.1:p.Ala66Val, NP_001139761.1:p.Ala66Val, XP_047283572.1:p.Ala66Val

Select item 148778058514.

rs1487780585 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:42773648 (GRCh38)
1:43239319 (GRCh37)
Canonical SPDI:: NC_000001.11:42773647:A:G
Gene:: C1orf50 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.42773648A>G, NC_000001.10:g.43239319A>G, NM_024097.4:c.281A>G, NM_024097.3:c.281A>G, NR_040733.2:n.228A>G, NR_040733.1:n.232A>G, NP_077002.2:p.Lys94Arg

Select item 148777239615.

rs1487772396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:42766452 (GRCh38)
1:43232123 (GRCh37)
Canonical SPDI:: NC_000001.11:42766451:C:A
Gene:: P3H1 (Varview), C1orf50 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.42766452C>A, NC_000001.10:g.43232123C>A, NG_008123.1:g.5633G>T

Select item 148775028016.

rs1487750280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:42772302 (GRCh38)
1:43237973 (GRCh37)
Canonical SPDI:: NC_000001.11:42772301:T:C
Gene:: C1orf50 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42772302T>C, NC_000001.10:g.43237973T>C

Select item 148765273917.

rs1487652739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42773425 (GRCh38)
1:43239096 (GRCh37)
Canonical SPDI:: NC_000001.11:42773424:G:A
Gene:: C1orf50 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.42773425G>A, NC_000001.10:g.43239096G>A

Select item 148735548818.

rs1487355488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:42776183 (GRCh38)
1:43241854 (GRCh37)
Canonical SPDI:: NC_000001.11:42776182:A:C
Gene:: C1orf50 (Varview), TMEM269-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.42776183A>C, NC_000001.10:g.43241854A>C, NM_024097.4:c.*789A>C, NR_040733.2:n.1336A>C

Select item 148730700719.

rs1487307007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:42766006 (GRCh38)
1:43231677 (GRCh37)
Canonical SPDI:: NC_000001.11:42766005:G:T
Gene:: P3H1 (Varview), C1orf50 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/1 (GnomAD)
HGVS:: NC_000001.11:g.42766006G>T, NC_000001.10:g.43231677G>T, NG_008123.1:g.6079C>A

Select item 148696346220.

rs1486963462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:42772547 (GRCh38)
1:43238218 (GRCh37)
Canonical SPDI:: NC_000001.11:42772546:G:A
Gene:: C1orf50 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.42772547G>A, NC_000001.10:g.43238218G>A

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