SNP Links for Nucleotide (Select 338827723) - SNP

Links from Nucleotide

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Select item 14915719741.

rs1491571974 has merged into rs58825423 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 1:53258753 (GRCh38)
1:53724425 (GRCh37)
Canonical SPDI:: NC_000001.11:53258741:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:53258741:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:53258741:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:53258741:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.14657/734 (1000Genomes)
HGVS:: NC_000001.11:g.53258753_53258754del, NC_000001.11:g.53258754del, NC_000001.11:g.53258754dup, NC_000001.11:g.53258753_53258754dup, NC_000001.10:g.53724425_53724426del, NC_000001.10:g.53724426del, NC_000001.10:g.53724426dup, NC_000001.10:g.53724425_53724426dup, NG_011517.2:g.74407_74408del, NG_011517.2:g.74408del, NG_011517.2:g.74408dup, NG_011517.2:g.74407_74408dup

Select item 14914615332.

rs1491461533 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:53327839 (GRCh38)
1:53793511 (GRCh37)
Canonical SPDI:: NC_000001.11:53327838:TG:
Gene:: LRP8 (Varview), LRP8-DT (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00167/220 (GnomAD)
-=0.002498/16 (1000Genomes)
-=0.003221/33 (ExAC)
-=0.014205/235 (TOMMO)
-=0.020208/35 (Korea1K)
-=0.032813/164 (GoESP)
HGVS:: NC_000001.11:g.53327839_53327840del, NC_000001.10:g.53793511_53793512del, NG_011517.2:g.5310_5311del, NM_004631.5:c.73_74del, NM_004631.4:c.73_74del, NM_017522.5:c.73_74del, NM_017522.4:c.73_74del, NM_033300.4:c.73_74del, NM_033300.3:c.73_74del, NM_001018054.3:c.73_74del, NM_001018054.2:c.73_74del, NP_004622.2:p.Gln25fs, NP_059992.3:p.Gln25fs, NP_150643.2:p.Gln25fs, NP_001018064.1:p.Gln25fs

Select item 14913294653.

rs1491329465 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTAC [Show Flanks]
Chromosome:: 1:53283453 (GRCh38)
1:53749126 (GRCh37)
Canonical SPDI:: NC_000001.11:53283453:TAC:TACCTAC
Gene:: LRP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TACCTAC=0./0 (ALFA)
HGVS:: NC_000001.11:g.53283456_53283457insCTAC, NC_000001.10:g.53749128_53749129insCTAC, NG_011517.2:g.49696_49697insGGTA

Select item 14913228404.

rs1491322840 has merged into rs144308373 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TA,TATA,TATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA [Show Flanks]
Chromosome:: 1:53242852 (GRCh38)
1:53708524 (GRCh37)
Canonical SPDI:: NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000001.11:53242836:ATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA
Gene:: LRP8 (Varview), MAGOH-DT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATA=0./0 (ALFA)
ATATATATATAT=0.000004/1 (TOPMED)
-=0.035029/135 (ALSPAC)
HGVS:: NC_000001.11:g.53242838TA[7], NC_000001.11:g.53242838TA[8], NC_000001.11:g.53242838TA[9], NC_000001.11:g.53242838TA[10], NC_000001.11:g.53242838TA[12], NC_000001.11:g.53242838TA[13], NC_000001.11:g.53242838TA[14], NC_000001.11:g.53242838TA[15], NC_000001.11:g.53242838TA[17], NC_000001.11:g.53242838TA[18], NC_000001.10:g.53708510TA[7], NC_000001.10:g.53708510TA[8], NC_000001.10:g.53708510TA[9], NC_000001.10:g.53708510TA[10], NC_000001.10:g.53708510TA[12], NC_000001.10:g.53708510TA[13], NC_000001.10:g.53708510TA[14], NC_000001.10:g.53708510TA[15], NC_000001.10:g.53708510TA[17], NC_000001.10:g.53708510TA[18], NG_011517.2:g.90292AT[7], NG_011517.2:g.90292AT[8], NG_011517.2:g.90292AT[9], NG_011517.2:g.90292AT[10], NG_011517.2:g.90292AT[12], NG_011517.2:g.90292AT[13], NG_011517.2:g.90292AT[14], NG_011517.2:g.90292AT[15], NG_011517.2:g.90292AT[17], NG_011517.2:g.90292AT[18], NM_004631.5:c.*4160AT[7], NM_004631.5:c.*4160AT[8], NM_004631.5:c.*4160AT[9], NM_004631.5:c.*4160AT[10], NM_004631.5:c.*4160AT[12], NM_004631.5:c.*4160AT[13], NM_004631.5:c.*4160AT[14], NM_004631.5:c.*4160AT[15], NM_004631.5:c.*4160AT[17], NM_004631.5:c.*4160AT[18], NM_004631.4:c.*4160AT[7], NM_004631.4:c.*4160AT[8], NM_004631.4:c.*4160AT[9], NM_004631.4:c.*4160AT[10], NM_004631.4:c.*4160AT[12], NM_004631.4:c.*4160AT[13], NM_004631.4:c.*4160AT[14], NM_004631.4:c.*4160AT[15], NM_004631.4:c.*4160AT[17], NM_004631.4:c.*4160AT[18], NM_017522.5:c.*4160AT[7], NM_017522.5:c.*4160AT[8], NM_017522.5:c.*4160AT[9], NM_017522.5:c.*4160AT[10], NM_017522.5:c.*4160AT[12], NM_017522.5:c.*4160AT[13], NM_017522.5:c.*4160AT[14], NM_017522.5:c.*4160AT[15], NM_017522.5:c.*4160AT[17], NM_017522.5:c.*4160AT[18], NM_017522.4:c.*4160AT[7], NM_017522.4:c.*4160AT[8], NM_017522.4:c.*4160AT[9], NM_017522.4:c.*4160AT[10], NM_017522.4:c.*4160AT[12], NM_017522.4:c.*4160AT[13], NM_017522.4:c.*4160AT[14], NM_017522.4:c.*4160AT[15], NM_017522.4:c.*4160AT[17], NM_017522.4:c.*4160AT[18], NM_033300.4:c.*4160AT[7], NM_033300.4:c.*4160AT[8], NM_033300.4:c.*4160AT[9], NM_033300.4:c.*4160AT[10], NM_033300.4:c.*4160AT[12], NM_033300.4:c.*4160AT[13], NM_033300.4:c.*4160AT[14], NM_033300.4:c.*4160AT[15], NM_033300.4:c.*4160AT[17], NM_033300.4:c.*4160AT[18], NM_033300.3:c.*4160AT[7], NM_033300.3:c.*4160AT[8], NM_033300.3:c.*4160AT[9], NM_033300.3:c.*4160AT[10], NM_033300.3:c.*4160AT[12], NM_033300.3:c.*4160AT[13], NM_033300.3:c.*4160AT[14], NM_033300.3:c.*4160AT[15], NM_033300.3:c.*4160AT[17], NM_033300.3:c.*4160AT[18], NM_001018054.3:c.*4160AT[7], NM_001018054.3:c.*4160AT[8], NM_001018054.3:c.*4160AT[9], NM_001018054.3:c.*4160AT[10], NM_001018054.3:c.*4160AT[12], NM_001018054.3:c.*4160AT[13], NM_001018054.3:c.*4160AT[14], NM_001018054.3:c.*4160AT[15], NM_001018054.3:c.*4160AT[17], NM_001018054.3:c.*4160AT[18], NM_001018054.2:c.*4160AT[7], NM_001018054.2:c.*4160AT[8], NM_001018054.2:c.*4160AT[9], NM_001018054.2:c.*4160AT[10], NM_001018054.2:c.*4160AT[12], NM_001018054.2:c.*4160AT[13], NM_001018054.2:c.*4160AT[14], NM_001018054.2:c.*4160AT[15], NM_001018054.2:c.*4160AT[17], NM_001018054.2:c.*4160AT[18]

Select item 14913154405.

rs1491315440 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:53283453 (GRCh38)
1:53749125 (GRCh37)
Canonical SPDI:: NC_000001.11:53283452:TT:
Gene:: LRP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00007/1 (TOMMO)
HGVS:: NC_000001.11:g.53283453_53283454del, NC_000001.10:g.53749125_53749126del, NG_011517.2:g.49696_49697del

Select item 14912168326.

rs1491216832 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:53258742 (GRCh38)
1:53724415 (GRCh37)
Canonical SPDI:: NC_000001.11:53258742::A
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00002/2 (GnomAD)
HGVS:: NC_000001.11:g.53258742_53258743insA, NC_000001.10:g.53724414_53724415insA, NG_011517.2:g.74407_74408insT

Select item 14910709317.

rs1491070931 has merged into rs1396552570 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATA>-,AATAAATA [Show Flanks]
Chromosome:: 1:53252071 (GRCh38)
1:53717743 (GRCh37)
Canonical SPDI:: NC_000001.11:53252060:TAAATAAATAAATA:TAAATAAATA,NC_000001.11:53252060:TAAATAAATAAATA:TAAATAAATAAATAAATA
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAAATAAATAAATAAATA=0./0 (ALFA)
HGVS:: NC_000001.11:g.53252063AATA[2], NC_000001.11:g.53252063AATA[4], NC_000001.10:g.53717735AATA[2], NC_000001.10:g.53717735AATA[4], NG_011517.2:g.81078TTTA[2], NG_011517.2:g.81078TTTA[4], XR_947355.3:n.1172AATA[2], XR_947355.3:n.1172AATA[4], XR_007066091.1:n.1172AATA[2], XR_007066091.1:n.1172AATA[4]

Select item 14910357878.

rs1491035787 has merged into rs1553172649 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC [Show Flanks]
Chromosome:: 1:53242869 (GRCh38)
1:53708541 (GRCh37)
Canonical SPDI:: NC_000001.11:53242858:ACACACACACACAC:ACACACACAC,NC_000001.11:53242858:ACACACACACACAC:ACACACACACAC,NC_000001.11:53242858:ACACACACACACAC:ACACACACACACACAC,NC_000001.11:53242858:ACACACACACACAC:ACACACACACACACACAC,NC_000001.11:53242858:ACACACACACACAC:ACACACACACACACACACAC,NC_000001.11:53242858:ACACACACACACAC:ACACACACACACACACACACAC
Gene:: LRP8 (Varview), MAGOH-DT (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACAC=0./0 (ALFA)
AC=0.00487/1289 (TOPMED)
AC=0.059523/998 (TOMMO)
AC=0.084906/9 (Vietnamese)
HGVS:: NC_000001.11:g.53242859AC[5], NC_000001.11:g.53242859AC[6], NC_000001.11:g.53242859AC[8], NC_000001.11:g.53242859AC[9], NC_000001.11:g.53242859AC[10], NC_000001.11:g.53242859AC[11], NC_000001.10:g.53708531AC[5], NC_000001.10:g.53708531AC[6], NC_000001.10:g.53708531AC[8], NC_000001.10:g.53708531AC[9], NC_000001.10:g.53708531AC[10], NC_000001.10:g.53708531AC[11], NG_011517.2:g.90278GT[5], NG_011517.2:g.90278GT[6], NG_011517.2:g.90278GT[8], NG_011517.2:g.90278GT[9], NG_011517.2:g.90278GT[10], NG_011517.2:g.90278GT[11], NM_004631.5:c.*4146GT[5], NM_004631.5:c.*4146GT[6], NM_004631.5:c.*4146GT[8], NM_004631.5:c.*4146GT[9], NM_004631.5:c.*4146GT[10], NM_004631.5:c.*4146GT[11], NM_004631.4:c.*4146GT[5], NM_004631.4:c.*4146GT[6], NM_004631.4:c.*4146GT[8], NM_004631.4:c.*4146GT[9], NM_004631.4:c.*4146GT[10], NM_004631.4:c.*4146GT[11], NM_017522.5:c.*4146GT[5], NM_017522.5:c.*4146GT[6], NM_017522.5:c.*4146GT[8], NM_017522.5:c.*4146GT[9], NM_017522.5:c.*4146GT[10], NM_017522.5:c.*4146GT[11], NM_017522.4:c.*4146GT[5], NM_017522.4:c.*4146GT[6], NM_017522.4:c.*4146GT[8], NM_017522.4:c.*4146GT[9], NM_017522.4:c.*4146GT[10], NM_017522.4:c.*4146GT[11], NM_033300.4:c.*4146GT[5], NM_033300.4:c.*4146GT[6], NM_033300.4:c.*4146GT[8], NM_033300.4:c.*4146GT[9], NM_033300.4:c.*4146GT[10], NM_033300.4:c.*4146GT[11], NM_033300.3:c.*4146GT[5], NM_033300.3:c.*4146GT[6], NM_033300.3:c.*4146GT[8], NM_033300.3:c.*4146GT[9], NM_033300.3:c.*4146GT[10], NM_033300.3:c.*4146GT[11], NM_001018054.3:c.*4146GT[5], NM_001018054.3:c.*4146GT[6], NM_001018054.3:c.*4146GT[8], NM_001018054.3:c.*4146GT[9], NM_001018054.3:c.*4146GT[10], NM_001018054.3:c.*4146GT[11], NM_001018054.2:c.*4146GT[5], NM_001018054.2:c.*4146GT[6], NM_001018054.2:c.*4146GT[8], NM_001018054.2:c.*4146GT[9], NM_001018054.2:c.*4146GT[10], NM_001018054.2:c.*4146GT[11]

Select item 14910005469.

rs1491000546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:53332224 (GRCh38)
1:53797896 (GRCh37)
Canonical SPDI:: NC_000001.11:53332223:C:T
Gene:: LOC105378731 (Varview), LRP8-DT (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.53332224C>T, NC_000001.10:g.53797896C>T, NG_011517.2:g.926G>A

Select item 149099234110.

rs1490992341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:53275211 (GRCh38)
1:53740883 (GRCh37)
Canonical SPDI:: NC_000001.11:53275210:A:G
Gene:: LRP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.53275211A>G, NC_000001.10:g.53740883A>G, NG_011517.2:g.57939T>C

Select item 149096797811.

rs1490967978 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:53276548 (GRCh38)
1:53742220 (GRCh37)
Canonical SPDI:: NC_000001.11:53276547:T:C
Gene:: LRP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.53276548T>C, NC_000001.10:g.53742220T>C, NG_011517.2:g.56602A>G

Select item 149095230712.

rs1490952307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:53297418 (GRCh38)
1:53763090 (GRCh37)
Canonical SPDI:: NC_000001.11:53297417:G:A,NC_000001.11:53297417:G:C
Gene:: LRP8 (Varview), LOC105378726 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.53297418G>A, NC_000001.11:g.53297418G>C, NC_000001.10:g.53763090G>A, NC_000001.10:g.53763090G>C, NG_011517.2:g.35732C>T, NG_011517.2:g.35732C>G, XR_007066090.1:n.6491G>A, XR_007066090.1:n.6491G>C

Select item 149091518613.

rs1490915186 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:53259333 (GRCh38)
1:53725005 (GRCh37)
Canonical SPDI:: NC_000001.11:53259332:A:G
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.53259333A>G, NC_000001.10:g.53725005A>G, NG_011517.2:g.73817T>C

Select item 149090933614.

rs1490909336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:53315719 (GRCh38)
1:53781391 (GRCh37)
Canonical SPDI:: NC_000001.11:53315718:G:C
Gene:: LRP8 (Varview)
Functional Consequence:: intron_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.53315719G>C, NC_000001.10:g.53781391G>C, NG_011517.2:g.17431C>G

Select item 149086391315.

rs1490863913 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 1:53256581 (GRCh38)
1:53722253 (GRCh37)
Canonical SPDI:: NC_000001.11:53256580:AAAAAA:AAAAA,NC_000001.11:53256580:AAAAAA:AAAAAAA
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0.000054/1 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.53256586del, NC_000001.11:g.53256586dup, NC_000001.10:g.53722258del, NC_000001.10:g.53722258dup, NG_011517.2:g.76569del, NG_011517.2:g.76569dup

Select item 149082442016.

rs1490824420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:53274867 (GRCh38)
1:53740539 (GRCh37)
Canonical SPDI:: NC_000001.11:53274866:C:A,NC_000001.11:53274866:C:T
Gene:: LRP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.53274867C>A, NC_000001.11:g.53274867C>T, NC_000001.10:g.53740539C>A, NC_000001.10:g.53740539C>T, NG_011517.2:g.58283G>T, NG_011517.2:g.58283G>A

Select item 149078721517.

rs1490787215 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:53265507 (GRCh38)
1:53731179 (GRCh37)
Canonical SPDI:: NC_000001.11:53265506:A:T
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.53265507A>T, NC_000001.10:g.53731179A>T, NG_011517.2:g.67643T>A

Select item 149073598718.

rs1490735987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:53266794 (GRCh38)
1:53732466 (GRCh37)
Canonical SPDI:: NC_000001.11:53266793:A:C,NC_000001.11:53266793:A:G
Gene:: LRP8 (Varview), LOC105378728 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.53266794A>C, NC_000001.11:g.53266794A>G, NC_000001.10:g.53732466A>C, NC_000001.10:g.53732466A>G, NG_011517.2:g.66356T>G, NG_011517.2:g.66356T>C

Select item 149073464919.

rs1490734649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:53324368 (GRCh38)
1:53790040 (GRCh37)
Canonical SPDI:: NC_000001.11:53324367:G:T
Gene:: LRP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.53324368G>T, NC_000001.10:g.53790040G>T, NG_011517.2:g.8782C>A

Select item 149071158620.

rs1490711586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:53277099 (GRCh38)
1:53742771 (GRCh37)
Canonical SPDI:: NC_000001.11:53277098:G:A
Gene:: LRP8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.53277099G>A, NC_000001.10:g.53742771G>A, NG_011517.2:g.56051C>T

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