SNP Links for Gene (Select 84342) - SNP

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Select item 14914555621.

rs1491455562 has merged into rs554776759 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:69333177 (GRCh38)
16:69367080 (GRCh37)
Canonical SPDI:: NC_000016.10:69333166:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:69333166:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:69333166:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:69333166:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:69333166:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:69333166:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:69333166:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:69333166:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69333166:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69333166:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69333166:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69333166:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:69333166:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: COG8 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.29673/1486 (1000Genomes)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000016.10:g.69333177_69333185del, NC_000016.10:g.69333180_69333185del, NC_000016.10:g.69333182_69333185del, NC_000016.10:g.69333183_69333185del, NC_000016.10:g.69333184_69333185del, NC_000016.10:g.69333185del, NC_000016.10:g.69333185dup, NC_000016.10:g.69333184_69333185dup, NC_000016.10:g.69333183_69333185dup, NC_000016.10:g.69333182_69333185dup, NC_000016.10:g.69333180_69333185dup, NC_000016.10:g.69333179_69333185dup, NC_000016.10:g.69333178_69333185dup, NC_000016.9:g.69367080_69367088del, NC_000016.9:g.69367083_69367088del, NC_000016.9:g.69367085_69367088del, NC_000016.9:g.69367086_69367088del, NC_000016.9:g.69367087_69367088del, NC_000016.9:g.69367088del, NC_000016.9:g.69367088dup, NC_000016.9:g.69367087_69367088dup, NC_000016.9:g.69367086_69367088dup, NC_000016.9:g.69367085_69367088dup, NC_000016.9:g.69367083_69367088dup, NC_000016.9:g.69367082_69367088dup, NC_000016.9:g.69367081_69367088dup, NG_009013.1:g.11449_11457del, NG_009013.1:g.11452_11457del, NG_009013.1:g.11454_11457del, NG_009013.1:g.11455_11457del, NG_009013.1:g.11456_11457del, NG_009013.1:g.11457del, NG_009013.1:g.11457dup, NG_009013.1:g.11456_11457dup, NG_009013.1:g.11455_11457dup, NG_009013.1:g.11454_11457dup, NG_009013.1:g.11452_11457dup, NG_009013.1:g.11451_11457dup, NG_009013.1:g.11450_11457dup, NG_033043.1:g.2421_2429del, NG_033043.1:g.2424_2429del, NG_033043.1:g.2426_2429del, NG_033043.1:g.2427_2429del, NG_033043.1:g.2428_2429del, NG_033043.1:g.2429del, NG_033043.1:g.2429dup, NG_033043.1:g.2428_2429dup, NG_033043.1:g.2427_2429dup, NG_033043.1:g.2426_2429dup, NG_033043.1:g.2424_2429dup, NG_033043.1:g.2423_2429dup, NG_033043.1:g.2422_2429dup

Select item 14912474372.

rs1491247437 has merged into rs1205833347 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:69337293 (GRCh38)
16:69371196 (GRCh37)
Canonical SPDI:: NC_000016.10:69337280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:69337280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:69337280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:69337280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:69337280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:69337280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:69337280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:69337280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:69337280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69337280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:69337280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: COG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.69337293_69337299del, NC_000016.10:g.69337294_69337299del, NC_000016.10:g.69337295_69337299del, NC_000016.10:g.69337296_69337299del, NC_000016.10:g.69337297_69337299del, NC_000016.10:g.69337298_69337299del, NC_000016.10:g.69337299del, NC_000016.10:g.69337299dup, NC_000016.10:g.69337298_69337299dup, NC_000016.10:g.69337296_69337299dup, NC_000016.10:g.69337282_69337299dup, NC_000016.9:g.69371196_69371202del, NC_000016.9:g.69371197_69371202del, NC_000016.9:g.69371198_69371202del, NC_000016.9:g.69371199_69371202del, NC_000016.9:g.69371200_69371202del, NC_000016.9:g.69371201_69371202del, NC_000016.9:g.69371202del, NC_000016.9:g.69371202dup, NC_000016.9:g.69371201_69371202dup, NC_000016.9:g.69371199_69371202dup, NC_000016.9:g.69371185_69371202dup, NG_009013.1:g.7337_7343del, NG_009013.1:g.7338_7343del, NG_009013.1:g.7339_7343del, NG_009013.1:g.7340_7343del, NG_009013.1:g.7341_7343del, NG_009013.1:g.7342_7343del, NG_009013.1:g.7343del, NG_009013.1:g.7343dup, NG_009013.1:g.7342_7343dup, NG_009013.1:g.7340_7343dup, NG_009013.1:g.7326_7343dup

Select item 14911392203.

rs1491139220 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 16:69333167 (GRCh38)
16:69367071 (GRCh37)
Canonical SPDI:: NC_000016.10:69333167:T:TGT
Gene:: COG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000016.10:g.69333168_69333169insGT, NC_000016.9:g.69367071_69367072insGT, NG_009013.1:g.11456_11457insCA, NG_033043.1:g.2428_2429insCA

Select item 14910901854.

rs1491090185 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:69337280 (GRCh38)
16:69371183 (GRCh37)
Canonical SPDI:: NC_000016.10:69337279:CA:
Gene:: COG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000016.10:g.69337280_69337281del, NC_000016.9:g.69371183_69371184del, NG_009013.1:g.7343_7344del

Select item 14907259585.

rs1490725958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:69334992 (GRCh38)
16:69368895 (GRCh37)
Canonical SPDI:: NC_000016.10:69334991:G:A,NC_000016.10:69334991:G:T
Gene:: COG8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000342/1 (KOREAN)
A=0.000425/7 (TOMMO)
HGVS:: NC_000016.10:g.69334992G>A, NC_000016.10:g.69334992G>T, NC_000016.9:g.69368895G>A, NC_000016.9:g.69368895G>T, NG_009013.1:g.9632C>T, NG_009013.1:g.9632C>A, NM_032382.5:c.942C>T, NM_032382.5:c.942C>A, NM_032382.4:c.942C>T, NM_032382.4:c.942C>A, NM_001379261.1:c.942C>T, NM_001379261.1:c.942C>A, NM_001379263.1:c.942C>T, NM_001379263.1:c.942C>A, NM_001379264.1:c.942C>T, NM_001379264.1:c.942C>A, NM_001379262.1:c.942C>T, NM_001379262.1:c.942C>A, NM_001379265.1:c.942C>T, NM_001379265.1:c.942C>A, NM_001379266.1:c.942C>T, NM_001379266.1:c.942C>A, NM_001374871.1:c.942C>T, NM_001374871.1:c.942C>A, NG_033043.1:g.604C>T, NG_033043.1:g.604C>A

Select item 14905614206.

rs1490561420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:69328493 (GRCh38)
16:69362396 (GRCh37)
Canonical SPDI:: NC_000016.10:69328492:G:C
Gene:: PDF (Varview), COG8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.69328493G>C, NC_000016.9:g.69362396G>C, NG_009013.1:g.16131C>G, NM_032382.5:c.*713C>G, NM_001379261.1:c.*713C>G, NM_001379263.1:c.*713C>G, NM_001379264.1:c.*710C>G, NM_001379262.1:c.*529C>G, NM_001379265.1:c.*529C>G, NM_001379266.1:c.*543C>G, NG_033043.1:g.7103C>G, NM_022341.2:c.*529C>G

Select item 14905490867.

rs1490549086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:69340784 (GRCh38)
16:69374687 (GRCh37)
Canonical SPDI:: NC_000016.10:69340783:G:A
Gene:: NIP7 (Varview), COG8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.69340784G>A, NC_000016.9:g.69374687G>A, NG_009013.1:g.3840C>T

Select item 14905341838.

rs1490534183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:69339843 (GRCh38)
16:69373746 (GRCh37)
Canonical SPDI:: NC_000016.10:69339842:C:G
Gene:: NIP7 (Varview), COG8 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_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_000016.10:g.69339843C>G, NC_000016.9:g.69373746C>G, NG_009013.1:g.4781G>C, NM_016101.5:c.14C>G, NM_016101.4:c.14C>G, NM_001199434.2:c.14C>G, NM_001199434.1:c.14C>G, NP_057185.1:p.Thr5Ser, NP_001186363.1:p.Thr5Ser

Select item 14904218609.

rs1490421860 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:69340474 (GRCh38)
16:69374378 (GRCh37)
Canonical SPDI:: NC_000016.10:69340474:TT:TTT
Gene:: NIP7 (Varview), COG8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.69340476dup, NC_000016.9:g.69374379dup, NG_009013.1:g.4149dup

Select item 148982365510.

rs1489823655 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:69328676 (GRCh38)
16:69362579 (GRCh37)
Canonical SPDI:: NC_000016.10:69328675:A:C
Gene:: PDF (Varview), COG8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000016.10:g.69328676A>C, NC_000016.9:g.69362579A>C, NG_009013.1:g.15948T>G, NM_032382.5:c.*530T>G, NM_032382.4:c.*530T>G, NM_001379261.1:c.*530T>G, NM_001379263.1:c.*530T>G, NM_001379264.1:c.*527T>G, NM_001379262.1:c.*346T>G, NM_001379265.1:c.*346T>G, NM_001379266.1:c.*360T>G, NG_033043.1:g.6920T>G, NM_022341.2:c.*346T>G, NM_022341.1:c.*346T>G

Select item 148969373011.

rs1489693730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:69328897 (GRCh38)
16:69362800 (GRCh37)
Canonical SPDI:: NC_000016.10:69328896:C:A,NC_000016.10:69328896:C:G,NC_000016.10:69328896:C:T
Gene:: PDF (Varview), COG8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.69328897C>A, NC_000016.10:g.69328897C>G, NC_000016.10:g.69328897C>T, NC_000016.9:g.69362800C>A, NC_000016.9:g.69362800C>G, NC_000016.9:g.69362800C>T, NG_009013.1:g.15727G>T, NG_009013.1:g.15727G>C, NG_009013.1:g.15727G>A, NM_032382.5:c.*309G>T, NM_032382.5:c.*309G>C, NM_032382.5:c.*309G>A, NM_032382.4:c.*309G>T, NM_032382.4:c.*309G>C, NM_032382.4:c.*309G>A, NM_001379261.1:c.*309G>T, NM_001379261.1:c.*309G>C, NM_001379261.1:c.*309G>A, NM_001379263.1:c.*309G>T, NM_001379263.1:c.*309G>C, NM_001379263.1:c.*309G>A, NM_001379264.1:c.*306G>T, NM_001379264.1:c.*306G>C, NM_001379264.1:c.*306G>A, NM_001379262.1:c.*125G>T, NM_001379262.1:c.*125G>C, NM_001379262.1:c.*125G>A, NM_001379265.1:c.*125G>T, NM_001379265.1:c.*125G>C, NM_001379265.1:c.*125G>A, NM_001379266.1:c.*139G>T, NM_001379266.1:c.*139G>C, NM_001379266.1:c.*139G>A, NG_033043.1:g.6699G>T, NG_033043.1:g.6699G>C, NG_033043.1:g.6699G>A, NM_022341.2:c.*125G>T, NM_022341.2:c.*125G>C, NM_022341.2:c.*125G>A, NM_022341.1:c.*125G>T, NM_022341.1:c.*125G>C, NM_022341.1:c.*125G>A

Select item 148951073612.

rs1489510736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 16:69330808 (GRCh38)
16:69364711 (GRCh37)
Canonical SPDI:: NC_000016.10:69330807:C:A,NC_000016.10:69330807:C:G
Gene:: PDF (Varview), COG8 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.69330808C>A, NC_000016.10:g.69330808C>G, NC_000016.9:g.69364711C>A, NC_000016.9:g.69364711C>G, NG_009013.1:g.13816G>T, NG_009013.1:g.13816G>C, NG_033043.1:g.4788G>T, NG_033043.1:g.4788G>C

Select item 148946210113.

rs1489462101 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:69337109 (GRCh38)
16:69371012 (GRCh37)
Canonical SPDI:: NC_000016.10:69337108:A:G
Gene:: COG8 (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_000016.10:g.69337109A>G, NC_000016.9:g.69371012A>G, NG_009013.1:g.7515T>C

Select item 148933010214.

rs1489330102 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:69337933 (GRCh38)
16:69371836 (GRCh37)
Canonical SPDI:: NC_000016.10:69337932:C:T
Gene:: NIP7 (Varview), COG8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.69337933C>T, NC_000016.9:g.69371836C>T, NG_009013.1:g.6691G>A

Select item 148920355015.

rs1489203550 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:69340401 (GRCh38)
16:69374304 (GRCh37)
Canonical SPDI:: NC_000016.10:69340400:T:C
Gene:: NIP7 (Varview), COG8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.69340401T>C, NC_000016.9:g.69374304T>C, NG_009013.1:g.4223A>G

Select item 148888117916.

rs1488881179 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCTGCAGCAGCTGCGCCCGCT [Show Flanks]
Chromosome:: 16:69339318 (GRCh38)
16:69373222 (GRCh37)
Canonical SPDI:: NC_000016.10:69339318:CTGCTGCAGCAGCTGCGCCCGCT:CTGCTGCAGCAGCTGCGCCCGCTGCTGCAGCAGCTGCGCCCGCT
Gene:: NIP7 (Varview), COG8 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,inframe_insertion
Validated:: by frequency,by cluster
MAF:: CTGCTGCAGCAGCTGCGCCCG=0.000004/1 (GnomAD_exomes)
CTGCTGCAGCAGCTGCGCCCG=0.000156/1 (1000Genomes)
HGVS:: NC_000016.10:g.69339321_69339341dup, NC_000016.9:g.69373224_69373244dup, NG_009013.1:g.5285_5305dup, NM_032382.5:c.214_234dup, NM_032382.4:c.214_234dup, NM_001379261.1:c.214_234dup, NM_001379263.1:c.214_234dup, NM_001379264.1:c.214_234dup, NM_001379262.1:c.214_234dup, NM_001379265.1:c.214_234dup, NM_001379266.1:c.214_234dup, NM_001374871.1:c.214_234dup, NP_115758.3:p.Arg72_Gln78dup, NP_001366190.1:p.Arg72_Gln78dup, NP_001366192.1:p.Arg72_Gln78dup, NP_001366193.1:p.Arg72_Gln78dup, NP_001366191.1:p.Arg72_Gln78dup, NP_001366194.1:p.Arg72_Gln78dup, NP_001366195.1:p.Arg72_Gln78dup, NP_001361800.1:p.Arg72_Gln78dup

Select item 148887098917.

rs1488870989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:69329480 (GRCh38)
16:69363383 (GRCh37)
Canonical SPDI:: NC_000016.10:69329479:G:A
Gene:: PDF (Varview), COG8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.69329480G>A, NC_000016.9:g.69363383G>A, NG_009013.1:g.15144C>T, NG_033043.1:g.6116C>T

Select item 148882955218.

rs1488829552 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:69333635 (GRCh38)
16:69367538 (GRCh37)
Canonical SPDI:: NC_000016.10:69333634:A:C
Gene:: COG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.69333635A>C, NC_000016.9:g.69367538A>C, NG_009013.1:g.10989T>G, NG_033043.1:g.1961T>G

Select item 148869200019.

rs1488692000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:69331430 (GRCh38)
16:69365333 (GRCh37)
Canonical SPDI:: NC_000016.10:69331429:G:A
Gene:: PDF (Varview), COG8 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.69331430G>A, NC_000016.9:g.69365333G>A, NG_009013.1:g.13194C>T, NG_033043.1:g.4166C>T

Select item 148818303420.

rs1488183034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:69339382 (GRCh38)
16:69373285 (GRCh37)
Canonical SPDI:: NC_000016.10:69339381:C:T
Gene:: NIP7 (Varview), COG8 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.69339382C>T, NC_000016.9:g.69373285C>T, NG_009013.1:g.5242G>A, NM_032382.5:c.171G>A, NM_032382.4:c.171G>A, NM_001379261.1:c.171G>A, NM_001379263.1:c.171G>A, NM_001379264.1:c.171G>A, NM_001379262.1:c.171G>A, NM_001379265.1:c.171G>A, NM_001379266.1:c.171G>A, NM_001374871.1:c.171G>A

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