SNP Links for Nucleotide (Select 283945505) - SNP

Links from Nucleotide

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Select item 14915779061.

rs1491577906 has merged into rs138249543 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 1:196977304 (GRCh38)
1:196946434 (GRCh37)
Canonical SPDI:: NC_000001.11:196977292:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:196977292:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:196977292:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:196977292:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:196977292:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:196977292:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: CFHR5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1707/99 (NorthernSweden)
-=0.2364/911 (ALSPAC)
-=0.2419/897 (TWINSUK)
-=0.35/14 (GENOME_DK)
-=0.3598/1802 (1000Genomes)
HGVS:: NC_000001.11:g.196977304_196977306del, NC_000001.11:g.196977305_196977306del, NC_000001.11:g.196977306del, NC_000001.11:g.196977306dup, NC_000001.11:g.196977305_196977306dup, NC_000001.11:g.196977304_196977306dup, NC_000001.10:g.196946434_196946436del, NC_000001.10:g.196946435_196946436del, NC_000001.10:g.196946436del, NC_000001.10:g.196946436dup, NC_000001.10:g.196946435_196946436dup, NC_000001.10:g.196946434_196946436dup, NG_016365.1:g.4768_4770del, NG_016365.1:g.4769_4770del, NG_016365.1:g.4770del, NG_016365.1:g.4770dup, NG_016365.1:g.4769_4770dup, NG_016365.1:g.4768_4770dup, NW_025791754.1:g.742431dup, NW_025791754.1:g.742430_742431del, NW_025791754.1:g.742431del, NW_025791754.1:g.742430_742431dup, NW_025791754.1:g.742429_742431dup, NW_025791754.1:g.742428_742431dup

Select item 14915766182.

rs1491576618 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:196999683 (GRCh38)
1:196968813 (GRCh37)
Canonical SPDI:: NC_000001.11:196999682:GT:
Gene:: CFHR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.196999683_196999684del, NC_000001.10:g.196968813_196968814del, NG_016365.1:g.27147_27148del, NW_025791754.1:g.764813_764814del

Select item 14915400403.

rs1491540040 has merged into rs35191504 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATATATATATATA>-,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 1:196999692 (GRCh38)
1:196968822 (GRCh37)
Canonical SPDI:: NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:196999683:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: CFHR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATA=0./0 (ALFA)
HGVS:: NC_000001.11:g.196999684TA[4], NC_000001.11:g.196999684TA[6], NC_000001.11:g.196999684TA[7], NC_000001.11:g.196999684TA[8], NC_000001.11:g.196999684TA[9], NC_000001.11:g.196999684TA[10], NC_000001.11:g.196999684TA[11], NC_000001.11:g.196999684TA[12], NC_000001.11:g.196999684TA[13], NC_000001.11:g.196999684TA[14], NC_000001.11:g.196999684TA[15], NC_000001.11:g.196999684TA[16], NC_000001.11:g.196999684TA[17], NC_000001.11:g.196999684TA[18], NC_000001.11:g.196999684TA[19], NC_000001.11:g.196999684TA[21], NC_000001.11:g.196999684TA[22], NC_000001.11:g.196999684TA[23], NC_000001.11:g.196999684TA[24], NC_000001.11:g.196999684TA[25], NC_000001.11:g.196999684TA[26], NC_000001.11:g.196999684TA[27], NC_000001.11:g.196999684TA[28], NC_000001.11:g.196999684TA[29], NC_000001.11:g.196999684TA[30], NC_000001.11:g.196999684TA[31], NC_000001.10:g.196968814TA[4], NC_000001.10:g.196968814TA[6], NC_000001.10:g.196968814TA[7], NC_000001.10:g.196968814TA[8], NC_000001.10:g.196968814TA[9], NC_000001.10:g.196968814TA[10], NC_000001.10:g.196968814TA[11], NC_000001.10:g.196968814TA[12], NC_000001.10:g.196968814TA[13], NC_000001.10:g.196968814TA[14], NC_000001.10:g.196968814TA[15], NC_000001.10:g.196968814TA[16], NC_000001.10:g.196968814TA[17], NC_000001.10:g.196968814TA[18], NC_000001.10:g.196968814TA[19], NC_000001.10:g.196968814TA[21], NC_000001.10:g.196968814TA[22], NC_000001.10:g.196968814TA[23], NC_000001.10:g.196968814TA[24], NC_000001.10:g.196968814TA[25], NC_000001.10:g.196968814TA[26], NC_000001.10:g.196968814TA[27], NC_000001.10:g.196968814TA[28], NC_000001.10:g.196968814TA[29], NC_000001.10:g.196968814TA[30], NC_000001.10:g.196968814TA[31], NG_016365.1:g.27148TA[4], NG_016365.1:g.27148TA[6], NG_016365.1:g.27148TA[7], NG_016365.1:g.27148TA[8], NG_016365.1:g.27148TA[9], NG_016365.1:g.27148TA[10], NG_016365.1:g.27148TA[11], NG_016365.1:g.27148TA[12], NG_016365.1:g.27148TA[13], NG_016365.1:g.27148TA[14], NG_016365.1:g.27148TA[15], NG_016365.1:g.27148TA[16], NG_016365.1:g.27148TA[17], NG_016365.1:g.27148TA[18], NG_016365.1:g.27148TA[19], NG_016365.1:g.27148TA[21], NG_016365.1:g.27148TA[22], NG_016365.1:g.27148TA[23], NG_016365.1:g.27148TA[24], NG_016365.1:g.27148TA[25], NG_016365.1:g.27148TA[26], NG_016365.1:g.27148TA[27], NG_016365.1:g.27148TA[28], NG_016365.1:g.27148TA[29], NG_016365.1:g.27148TA[30], NG_016365.1:g.27148TA[31], NW_025791754.1:g.764814TA[4], NW_025791754.1:g.764814TA[6], NW_025791754.1:g.764814TA[7], NW_025791754.1:g.764814TA[8], NW_025791754.1:g.764814TA[9], NW_025791754.1:g.764814TA[10], NW_025791754.1:g.764814TA[11], NW_025791754.1:g.764814TA[12], NW_025791754.1:g.764814TA[13], NW_025791754.1:g.764814TA[14], NW_025791754.1:g.764814TA[15], NW_025791754.1:g.764814TA[16], NW_025791754.1:g.764814TA[17], NW_025791754.1:g.764814TA[18], NW_025791754.1:g.764814TA[19], NW_025791754.1:g.764814TA[21], NW_025791754.1:g.764814TA[22], NW_025791754.1:g.764814TA[23], NW_025791754.1:g.764814TA[24], NW_025791754.1:g.764814TA[25], NW_025791754.1:g.764814TA[26], NW_025791754.1:g.764814TA[27], NW_025791754.1:g.764814TA[28], NW_025791754.1:g.764814TA[29], NW_025791754.1:g.764814TA[30], NW_025791754.1:g.764814TA[31]

Select item 14914690984.

rs1491469098 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:196983778 (GRCh38)
1:196952908 (GRCh37)
Canonical SPDI:: NC_000001.11:196983777:GT:
Gene:: CFHR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.196983778_196983779del, NC_000001.10:g.196952908_196952909del, NG_016365.1:g.11242_11243del, NW_025791754.1:g.748908_748909del

Select item 14914603835.

rs1491460383 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 1:196986369 (GRCh38)
1:196955500 (GRCh37)
Canonical SPDI:: NC_000001.11:196986369:T:TGT
Gene:: CFHR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000001.11:g.196986370_196986371insGT, NC_000001.10:g.196955500_196955501insGT, NG_016365.1:g.13834_13835insGT, NW_025791754.1:g.751500_751501insGT

Select item 14912679206.

rs1491267920 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 1:196980591 (GRCh38)
1:196949721 (GRCh37)
Canonical SPDI:: NC_000001.11:196980590:CG:
Gene:: CFHR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000036/4 (GnomAD)
HGVS:: NC_000001.11:g.196980591_196980592del, NC_000001.10:g.196949721_196949722del, NG_016365.1:g.8055_8056del, NW_025791754.1:g.745725dup, NW_025791754.1:g.745724del

Select item 14912192797.

rs1491219279 has merged into rs57437038 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:196980608 (GRCh38)
1:196949738 (GRCh37)
Canonical SPDI:: NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:196980591:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: CFHR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGT=0./0 (ALFA)
GTGTGTGT=0.000502/133 (TOPMED)
-=0.255579/985 (ALSPAC)
HGVS:: NC_000001.11:g.196980592GT[8], NC_000001.11:g.196980592GT[9], NC_000001.11:g.196980592GT[10], NC_000001.11:g.196980592GT[11], NC_000001.11:g.196980592GT[12], NC_000001.11:g.196980592GT[13], NC_000001.11:g.196980592GT[14], NC_000001.11:g.196980592GT[15], NC_000001.11:g.196980592GT[16], NC_000001.11:g.196980592GT[17], NC_000001.11:g.196980592GT[18], NC_000001.11:g.196980592GT[20], NC_000001.11:g.196980592GT[21], NC_000001.11:g.196980592GT[22], NC_000001.11:g.196980592GT[23], NC_000001.11:g.196980592GT[24], NC_000001.11:g.196980592GT[25], NC_000001.11:g.196980592GT[26], NC_000001.11:g.196980592GT[29], NC_000001.10:g.196949722GT[8], NC_000001.10:g.196949722GT[9], NC_000001.10:g.196949722GT[10], NC_000001.10:g.196949722GT[11], NC_000001.10:g.196949722GT[12], NC_000001.10:g.196949722GT[13], NC_000001.10:g.196949722GT[14], NC_000001.10:g.196949722GT[15], NC_000001.10:g.196949722GT[16], NC_000001.10:g.196949722GT[17], NC_000001.10:g.196949722GT[18], NC_000001.10:g.196949722GT[20], NC_000001.10:g.196949722GT[21], NC_000001.10:g.196949722GT[22], NC_000001.10:g.196949722GT[23], NC_000001.10:g.196949722GT[24], NC_000001.10:g.196949722GT[25], NC_000001.10:g.196949722GT[26], NC_000001.10:g.196949722GT[29], NG_016365.1:g.8056GT[8], NG_016365.1:g.8056GT[9], NG_016365.1:g.8056GT[10], NG_016365.1:g.8056GT[11], NG_016365.1:g.8056GT[12], NG_016365.1:g.8056GT[13], NG_016365.1:g.8056GT[14], NG_016365.1:g.8056GT[15], NG_016365.1:g.8056GT[16], NG_016365.1:g.8056GT[17], NG_016365.1:g.8056GT[18], NG_016365.1:g.8056GT[20], NG_016365.1:g.8056GT[21], NG_016365.1:g.8056GT[22], NG_016365.1:g.8056GT[23], NG_016365.1:g.8056GT[24], NG_016365.1:g.8056GT[25], NG_016365.1:g.8056GT[26], NG_016365.1:g.8056GT[29], NW_025791754.1:g.745725GT[19], NW_025791754.1:g.745725GT[8], NW_025791754.1:g.745725GT[9], NW_025791754.1:g.745725GT[10], NW_025791754.1:g.745725GT[11], NW_025791754.1:g.745725GT[12], NW_025791754.1:g.745725GT[13], NW_025791754.1:g.745725GT[14], NW_025791754.1:g.745725GT[15], NW_025791754.1:g.745725GT[16], NW_025791754.1:g.745725GT[18], NW_025791754.1:g.745725GT[20], NW_025791754.1:g.745725GT[21], NW_025791754.1:g.745725GT[22], NW_025791754.1:g.745725GT[23], NW_025791754.1:g.745725GT[24], NW_025791754.1:g.745725GT[25], NW_025791754.1:g.745725GT[26], NW_025791754.1:g.745725GT[29]

Select item 14911951348.

rs1491195134 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT,GTCT,GTGTCT,GTGTGTCT,GTGTGTGTCT,GTGTGTGTGTCT,GTGTGTGTGTGTCT [Show Flanks]
Chromosome:: 1:196980628 (GRCh38)
1:196949759 (GRCh37)
Canonical SPDI:: NC_000001.11:196980628:T:TCT,NC_000001.11:196980628:T:TGTCT,NC_000001.11:196980628:T:TGTGTCT,NC_000001.11:196980628:T:TGTGTGTCT,NC_000001.11:196980628:T:TGTGTGTGTCT,NC_000001.11:196980628:T:TGTGTGTGTGTCT,NC_000001.11:196980628:T:TGTGTGTGTGTGTCT
Gene:: CFHR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTCT=0./0 (ALFA)
HGVS:: NC_000001.11:g.196980629_196980630insCT, NC_000001.11:g.196980629_196980630insGTCT, NC_000001.11:g.196980629TG[2]TCT[1], NC_000001.11:g.196980629TG[3]TCT[1], NC_000001.11:g.196980629TG[4]TCT[1], NC_000001.11:g.196980629TG[5]TCT[1], NC_000001.11:g.196980629TG[6]TCT[1], NC_000001.10:g.196949759_196949760insCT, NC_000001.10:g.196949759_196949760insGTCT, NC_000001.10:g.196949759TG[2]TCT[1], NC_000001.10:g.196949759TG[3]TCT[1], NC_000001.10:g.196949759TG[4]TCT[1], NC_000001.10:g.196949759TG[5]TCT[1], NC_000001.10:g.196949759TG[6]TCT[1], NG_016365.1:g.8093_8094insCT, NG_016365.1:g.8093_8094insGTCT, NG_016365.1:g.8093TG[2]TCT[1], NG_016365.1:g.8093TG[3]TCT[1], NG_016365.1:g.8093TG[4]TCT[1], NG_016365.1:g.8093TG[5]TCT[1], NG_016365.1:g.8093TG[6]TCT[1], NW_025791754.1:g.745758_745759insCT, NW_025791754.1:g.745758_745759insGTCT, NW_025791754.1:g.745758TG[2]TCT[1], NW_025791754.1:g.745758TG[3]TCT[1], NW_025791754.1:g.745758TG[4]TCT[1], NW_025791754.1:g.745758TG[5]TCT[1], NW_025791754.1:g.745758TG[6]TCT[1]

Select item 14911500099.

rs1491150009 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 1:196977293 (GRCh38)
1:196946424 (GRCh37)
Canonical SPDI:: NC_000001.11:196977293:A:ATA
Gene:: CFHR5 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: AT=0.00007/4 (GnomAD)
HGVS:: NC_000001.11:g.196977294_196977295insTA, NC_000001.10:g.196946424_196946425insTA, NG_016365.1:g.4758_4759insTA, NW_025791754.1:g.742419_742420insTA

Select item 149097626310.

rs1490976263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:196972720 (GRCh38)
1:196941850 (GRCh37)
Canonical SPDI:: NC_000001.11:196972719:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.004673/1 (Vietnamese)
HGVS:: NC_000001.11:g.196972720G>A, NC_000001.10:g.196941850G>A, NG_016365.1:g.184G>A, NW_025791754.1:g.737847G>A

Select item 149092834911.

rs1490928349 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:196985141 (GRCh38)
1:196954271 (GRCh37)
Canonical SPDI:: NC_000001.11:196985140:GG:G
Gene:: CFHR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.196985142del, NC_000001.10:g.196954272del, NG_016365.1:g.12606del, NW_025791754.1:g.750272del

Select item 149090890612.

rs1490908906 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:196999024 (GRCh38)
1:196968154 (GRCh37)
Canonical SPDI:: NC_000001.11:196999023:A:G
Gene:: CFHR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.196999024A>G, NC_000001.10:g.196968154A>G, NG_016365.1:g.26488A>G, NW_025791754.1:g.764154A>G

Select item 149085111113.

rs1490851111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:196987017 (GRCh38)
1:196956147 (GRCh37)
Canonical SPDI:: NC_000001.11:196987016:C:T
Gene:: CFHR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000001.11:g.196987017C>T, NC_000001.10:g.196956147C>T, NG_016365.1:g.14481C>T, NW_025791754.1:g.752147C>T

Select item 149077368714.

rs1490773687 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:197007892 (GRCh38)
1:196977022 (GRCh37)
Canonical SPDI:: NC_000001.11:197007891:A:G
Gene:: CFHR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.197007892A>G, NC_000001.10:g.196977022A>G, NG_016365.1:g.35356A>G, NW_025791754.1:g.773022A>G

Select item 149075925715.

rs1490759257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:196992482 (GRCh38)
1:196961612 (GRCh37)
Canonical SPDI:: NC_000001.11:196992481:C:T
Gene:: CFHR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.196992482C>T, NC_000001.10:g.196961612C>T, NG_016365.1:g.19946C>T, NW_025791754.1:g.757612C>T

Select item 149063865116.

rs1490638651 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:196994119 (GRCh38)
1:196963249 (GRCh37)
Canonical SPDI:: NC_000001.11:196994118:A:G
Gene:: CFHR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.196994119A>G, NC_000001.10:g.196963249A>G, NG_016365.1:g.21583A>G, NM_030787.4:c.470A>G, NM_030787.3:c.470A>G, NW_025791754.1:g.759249A>G, XM_011510020.3:c.479A>G, XM_011510020.2:c.479A>G, XM_011510020.1:c.479A>G, NP_110414.1:p.Asp157Gly, XP_011508322.1:p.Asp160Gly

Select item 149041906217.

rs1490419062 has merged into rs1399413395 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 1:196998550 (GRCh38)
1:196967680 (GRCh37)
Canonical SPDI:: NC_000001.11:196998549:AAAAAAA:AAAAAA,NC_000001.11:196998549:AAAAAAA:AAAAAAAA
Gene:: CFHR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.196998556del, NC_000001.11:g.196998556dup, NC_000001.10:g.196967686del, NC_000001.10:g.196967686dup, NG_016365.1:g.26020del, NG_016365.1:g.26020dup, NW_025791754.1:g.763686del, NW_025791754.1:g.763686dup

Select item 149023402318.

rs1490234023 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:197006302 (GRCh38)
1:196975432 (GRCh37)
Canonical SPDI:: NC_000001.11:197006301:A:G
Gene:: CFHR5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.197006302A>G, NC_000001.10:g.196975432A>G, NG_016365.1:g.33766A>G, NW_025791754.1:g.771432A>G

Select item 149015034119.

rs1490150341 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:196983964 (GRCh38)
1:196953094 (GRCh37)
Canonical SPDI:: NC_000001.11:196983963:T:A
Gene:: CFHR5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.196983964T>A, NC_000001.10:g.196953094T>A, NG_016365.1:g.11428T>A, NM_030787.4:c.257T>A, NM_030787.3:c.257T>A, NW_025791754.1:g.749094T>A, XM_011510020.3:c.266T>A, XM_011510020.2:c.266T>A, XM_011510020.1:c.266T>A, NP_110414.1:p.Met86Lys, XP_011508322.1:p.Met89Lys

Select item 149013945920.

rs1490139459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:196995730 (GRCh38)
1:196964860 (GRCh37)
Canonical SPDI:: NC_000001.11:196995729:A:G
Gene:: CFHR5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
G=0.000045/12 (TOPMED)
HGVS:: NC_000001.11:g.196995730A>G, NC_000001.10:g.196964860A>G, NG_016365.1:g.23194A>G, NM_030787.4:c.621A>G, NM_030787.3:c.621A>G, NW_025791754.1:g.760860A>G, XM_011510020.3:c.630A>G, XM_011510020.2:c.630A>G, XM_011510020.1:c.630A>G

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