SNP Links for Nucleotide (Select 401709931) - SNP

Links from Nucleotide

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14914545141.

rs1491454514 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:71922626 (GRCh38)
16:71956529 (GRCh37)
Canonical SPDI:: NC_000016.10:71922625:CA:
Gene:: IST1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.00002/5 (GnomAD_exomes)
-=0.000033/4 (ExAC)
-=0.000354/6 (TOMMO)
-=0.001638/3 (Korea1K)
HGVS:: NC_000016.10:g.71922626_71922627del, NC_000016.9:g.71956529_71956530del, NM_014761.4:c.705_706del, NM_014761.3:c.705_706del, NM_001270975.2:c.705_706del, NM_001270975.1:c.705_706del, NM_001270977.2:c.705_706del, NM_001270977.1:c.705_706del, NM_001270978.2:c.261_262del, NM_001270978.1:c.261_262del, NM_001270976.1:c.744_745del, NM_001270979.1:c.261_262del, NP_055576.2:p.Met236fs, NP_001257904.1:p.Met236fs, NP_001257906.1:p.Met236fs, NP_001257907.1:p.Met88fs, NP_001257905.1:p.Met249fs, NP_001257908.1:p.Met88fs

Select item 14914276602.

rs1491427660 has merged into rs148848854 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATGCCCATGCC>-,CATGCC,CATGCCCATGCCCATGCC,CATGCCCATGCCCATGCCCATGCC [Show Flanks]
Chromosome:: 16:71922620 (GRCh38)
16:71956523 (GRCh37)
Canonical SPDI:: NC_000016.10:71922608:ATGCCCATGCCCATGCCCATGCC:ATGCCCATGCC,NC_000016.10:71922608:ATGCCCATGCCCATGCCCATGCC:ATGCCCATGCCCATGCC,NC_000016.10:71922608:ATGCCCATGCCCATGCCCATGCC:ATGCCCATGCCCATGCCCATGCCCATGCC,NC_000016.10:71922608:ATGCCCATGCCCATGCCCATGCC:ATGCCCATGCCCATGCCCATGCCCATGCCCATGCC
Gene:: IST1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: ATGCCCATGCC=0.0001/2 (ALFA)
-=0.28992/1400 (1000Genomes)
-=0.33066/330 (GoNL)
-=0.35833/215 (NorthernSweden)
HGVS:: NC_000016.10:g.71922614CATGCC[1], NC_000016.10:g.71922614CATGCC[2], NC_000016.10:g.71922614CATGCC[4], NC_000016.10:g.71922614CATGCC[5], NC_000016.9:g.71956517CATGCC[1], NC_000016.9:g.71956517CATGCC[2], NC_000016.9:g.71956517CATGCC[4], NC_000016.9:g.71956517CATGCC[5], NM_014761.4:c.693CATGCC[1], NM_014761.4:c.693CATGCC[2], NM_014761.4:c.693CATGCC[4], NM_014761.4:c.693CATGCC[5], NM_014761.3:c.693CATGCC[1], NM_014761.3:c.693CATGCC[2], NM_014761.3:c.693CATGCC[4], NM_014761.3:c.693CATGCC[5], NM_001270975.2:c.693CATGCC[1], NM_001270975.2:c.693CATGCC[2], NM_001270975.2:c.693CATGCC[4], NM_001270975.2:c.693CATGCC[5], NM_001270975.1:c.693CATGCC[1], NM_001270975.1:c.693CATGCC[2], NM_001270975.1:c.693CATGCC[4], NM_001270975.1:c.693CATGCC[5], NM_001270977.2:c.693CATGCC[1], NM_001270977.2:c.693CATGCC[2], NM_001270977.2:c.693CATGCC[4], NM_001270977.2:c.693CATGCC[5], NM_001270977.1:c.693CATGCC[1], NM_001270977.1:c.693CATGCC[2], NM_001270977.1:c.693CATGCC[4], NM_001270977.1:c.693CATGCC[5], NM_001270978.2:c.249CATGCC[1], NM_001270978.2:c.249CATGCC[2], NM_001270978.2:c.249CATGCC[4], NM_001270978.2:c.249CATGCC[5], NM_001270978.1:c.249CATGCC[1], NM_001270978.1:c.249CATGCC[2], NM_001270978.1:c.249CATGCC[4], NM_001270978.1:c.249CATGCC[5], NM_001270976.1:c.732CATGCC[1], NM_001270976.1:c.732CATGCC[2], NM_001270976.1:c.732CATGCC[4], NM_001270976.1:c.732CATGCC[5], NM_001270979.1:c.249CATGCC[1], NM_001270979.1:c.249CATGCC[2], NM_001270979.1:c.249CATGCC[4], NM_001270979.1:c.249CATGCC[5], NP_055576.2:p.230MP[3], NP_055576.2:p.230MP[4], NP_055576.2:p.230MP[6], NP_055576.2:p.230MP[7], NP_001257904.1:p.230MP[3], NP_001257904.1:p.230MP[4], NP_001257904.1:p.230MP[6], NP_001257904.1:p.230MP[7], NP_001257906.1:p.230MP[3], NP_001257906.1:p.230MP[4], NP_001257906.1:p.230MP[6], NP_001257906.1:p.230MP[7], NP_001257907.1:p.82MP[3], NP_001257907.1:p.82MP[4], NP_001257907.1:p.82MP[6], NP_001257907.1:p.82MP[7], NP_001257905.1:p.243MP[3], NP_001257905.1:p.243MP[4], NP_001257905.1:p.243MP[6], NP_001257905.1:p.243MP[7], NP_001257908.1:p.82MP[3], NP_001257908.1:p.82MP[4], NP_001257908.1:p.82MP[6], NP_001257908.1:p.82MP[7]

Select item 14902106383.

rs1490210638 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:71915664 (GRCh38)
16:71949567 (GRCh37)
Canonical SPDI:: NC_000016.10:71915663:T:G
Gene:: IST1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.71915664T>G, NC_000016.9:g.71949567T>G, NM_014761.4:c.24T>G, NM_014761.3:c.24T>G, NM_001270975.2:c.24T>G, NM_001270975.1:c.24T>G, NM_001270977.2:c.24T>G, NM_001270977.1:c.24T>G, NM_001270976.1:c.63T>G

Select item 14899802304.

rs1489980230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:71927661 (GRCh38)
16:71961564 (GRCh37)
Canonical SPDI:: NC_000016.10:71927660:G:A
Gene:: IST1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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)
HGVS:: NC_000016.10:g.71927661G>A, NC_000016.9:g.71961564G>A, NG_032958.1:g.77318C>T, NM_014761.4:c.945G>A, NM_014761.3:c.945G>A, NM_001270975.2:c.949G>A, NM_001270975.1:c.949G>A, NM_001270977.2:c.856G>A, NM_001270977.1:c.856G>A, NM_001270978.2:c.505G>A, NM_001270978.1:c.505G>A, NM_001270976.1:c.988G>A, NM_001270979.1:c.505G>A, NP_001257904.1:p.Ala317Thr, NP_001257906.1:p.Ala286Thr, NP_001257907.1:p.Ala169Thr, NP_001257905.1:p.Ala330Thr, NP_001257908.1:p.Ala169Thr

Select item 14899242135.

rs1489924213 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:71930206 (GRCh38)
16:71964110 (GRCh37)
Canonical SPDI:: NC_000016.10:71930206:G:GG
Gene:: IST1 (Varview), PKD1L3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.71930207dup, NC_000016.9:g.71964110dup, NG_032958.1:g.74772dup, NM_014761.4:c.*2408dup, NM_014761.3:c.*2408dup, NM_001270975.2:c.*2394dup, NM_001270975.1:c.*2394dup, NM_001270977.2:c.*2394dup, NM_001270977.1:c.*2394dup, NM_001270978.2:c.*2394dup, NM_001270978.1:c.*2394dup, NM_001270976.1:c.*2394dup, NM_001270979.1:c.*2394dup

Select item 14897090956.

rs1489709095 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 16:71928603 (GRCh38)
16:71962506 (GRCh37)
Canonical SPDI:: NC_000016.10:71928602:A:C,NC_000016.10:71928602:A:G
Gene:: IST1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.71928603A>C, NC_000016.10:g.71928603A>G, NC_000016.9:g.71962506A>C, NC_000016.9:g.71962506A>G, NG_032958.1:g.76376T>G, NG_032958.1:g.76376T>C, NM_014761.4:c.*804A>C, NM_014761.4:c.*804A>G, NM_014761.3:c.*804A>C, NM_014761.3:c.*804A>G, NM_001270975.2:c.*790A>C, NM_001270975.2:c.*790A>G, NM_001270975.1:c.*790A>C, NM_001270975.1:c.*790A>G, NM_001270977.2:c.*790A>C, NM_001270977.2:c.*790A>G, NM_001270977.1:c.*790A>C, NM_001270977.1:c.*790A>G, NM_001270978.2:c.*790A>C, NM_001270978.2:c.*790A>G, NM_001270978.1:c.*790A>C, NM_001270978.1:c.*790A>G, NM_001270976.1:c.*790A>C, NM_001270976.1:c.*790A>G, NM_001270979.1:c.*790A>C, NM_001270979.1:c.*790A>G

Select item 14894020307.

rs1489402030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:71927724 (GRCh38)
16:71961627 (GRCh37)
Canonical SPDI:: NC_000016.10:71927723:G:A
Gene:: IST1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.71927724G>A, NC_000016.9:g.71961627G>A, NG_032958.1:g.77255C>T, NM_014761.4:c.1008G>A, NM_014761.3:c.1008G>A, NM_001270975.2:c.1012G>A, NM_001270975.1:c.1012G>A, NM_001270977.2:c.919G>A, NM_001270977.1:c.919G>A, NM_001270978.2:c.568G>A, NM_001270978.1:c.568G>A, NM_001270976.1:c.1051G>A, NM_001270979.1:c.568G>A, NP_001257904.1:p.Ala338Thr, NP_001257906.1:p.Ala307Thr, NP_001257907.1:p.Ala190Thr, NP_001257905.1:p.Ala351Thr, NP_001257908.1:p.Ala190Thr

Select item 14887596618.

rs1488759661 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:71928236 (GRCh38)
16:71962139 (GRCh37)
Canonical SPDI:: NC_000016.10:71928235:T:C
Gene:: IST1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000016.10:g.71928236T>C, NC_000016.9:g.71962139T>C, NG_032958.1:g.76743A>G, NM_014761.4:c.*437T>C, NM_014761.3:c.*437T>C, NM_001270975.2:c.*423T>C, NM_001270975.1:c.*423T>C, NM_001270977.2:c.*423T>C, NM_001270977.1:c.*423T>C, NM_001270978.2:c.*423T>C, NM_001270978.1:c.*423T>C, NM_001270976.1:c.*423T>C, NM_001270979.1:c.*423T>C

Select item 14887295529.

rs1488729552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:71928933 (GRCh38)
16:71962836 (GRCh37)
Canonical SPDI:: NC_000016.10:71928932:G:A
Gene:: IST1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.71928933G>A, NC_000016.9:g.71962836G>A, NG_032958.1:g.76046C>T, NM_014761.4:c.*1134G>A, NM_014761.3:c.*1134G>A, NM_001270975.2:c.*1120G>A, NM_001270975.1:c.*1120G>A, NM_001270977.2:c.*1120G>A, NM_001270977.1:c.*1120G>A, NM_001270978.2:c.*1120G>A, NM_001270978.1:c.*1120G>A, NM_001270976.1:c.*1120G>A, NM_001270979.1:c.*1120G>A

Select item 148872571610.

rs1488725716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:71929608 (GRCh38)
16:71963511 (GRCh37)
Canonical SPDI:: NC_000016.10:71929607:T:C
Gene:: IST1 (Varview), PKD1L3 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000016.10:g.71929608T>C, NC_000016.9:g.71963511T>C, NG_032958.1:g.75371A>G, NM_181536.2:c.5129A>G, NM_181536.1:c.5129A>G, NM_014761.4:c.*1809T>C, NM_014761.3:c.*1809T>C, XM_024450254.2:c.5126A>G, XM_024450254.1:c.5126A>G, XM_024450255.2:c.5111A>G, XM_024450255.1:c.5111A>G, XM_024450256.2:c.4952A>G, XM_024450256.1:c.4952A>G, XM_024450257.2:c.4943A>G, XM_024450257.1:c.4943A>G, NM_001270975.2:c.*1795T>C, NM_001270975.1:c.*1795T>C, NM_001270977.2:c.*1795T>C, NM_001270977.1:c.*1795T>C, NM_001270978.2:c.*1795T>C, NM_001270978.1:c.*1795T>C, XM_024450259.1:c.4577A>G, XM_024450258.1:c.4577A>G, XM_024450260.1:c.4421A>G, NM_001270976.1:c.*1795T>C, NM_001270979.1:c.*1795T>C, NP_853514.1:p.Lys1710Arg, XP_024306022.1:p.Lys1709Arg, XP_024306023.1:p.Lys1704Arg, XP_024306024.1:p.Lys1651Arg, XP_024306025.1:p.Lys1648Arg, XP_024306027.1:p.Lys1526Arg, XP_024306026.1:p.Lys1526Arg, XP_024306028.1:p.Lys1474Arg

Select item 148855734611.

rs1488557346 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:71928692 (GRCh38)
16:71962595 (GRCh37)
Canonical SPDI:: NC_000016.10:71928691:C:G,NC_000016.10:71928691:C:T
Gene:: IST1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.71928692C>G, NC_000016.10:g.71928692C>T, NC_000016.9:g.71962595C>G, NC_000016.9:g.71962595C>T, NG_032958.1:g.76287G>C, NG_032958.1:g.76287G>A, NM_014761.4:c.*893C>G, NM_014761.4:c.*893C>T, NM_014761.3:c.*893C>G, NM_014761.3:c.*893C>T, NM_001270975.2:c.*879C>G, NM_001270975.2:c.*879C>T, NM_001270975.1:c.*879C>G, NM_001270975.1:c.*879C>T, NM_001270977.2:c.*879C>G, NM_001270977.2:c.*879C>T, NM_001270977.1:c.*879C>G, NM_001270977.1:c.*879C>T, NM_001270978.2:c.*879C>G, NM_001270978.2:c.*879C>T, NM_001270978.1:c.*879C>G, NM_001270978.1:c.*879C>T, NM_001270976.1:c.*879C>G, NM_001270976.1:c.*879C>T, NM_001270979.1:c.*879C>G, NM_001270979.1:c.*879C>T

Select item 148809019212.

rs1488090192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:71928820 (GRCh38)
16:71962723 (GRCh37)
Canonical SPDI:: NC_000016.10:71928819:G:C,NC_000016.10:71928819:G:T
Gene:: IST1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.71928820G>C, NC_000016.10:g.71928820G>T, NC_000016.9:g.71962723G>C, NC_000016.9:g.71962723G>T, NG_032958.1:g.76159C>G, NG_032958.1:g.76159C>A, NM_014761.4:c.*1021G>C, NM_014761.4:c.*1021G>T, NM_014761.3:c.*1021G>C, NM_014761.3:c.*1021G>T, NM_001270975.2:c.*1007G>C, NM_001270975.2:c.*1007G>T, NM_001270975.1:c.*1007G>C, NM_001270975.1:c.*1007G>T, NM_001270977.2:c.*1007G>C, NM_001270977.2:c.*1007G>T, NM_001270977.1:c.*1007G>C, NM_001270977.1:c.*1007G>T, NM_001270978.2:c.*1007G>C, NM_001270978.2:c.*1007G>T, NM_001270978.1:c.*1007G>C, NM_001270978.1:c.*1007G>T, NM_001270976.1:c.*1007G>C, NM_001270976.1:c.*1007G>T, NM_001270979.1:c.*1007G>C, NM_001270979.1:c.*1007G>T

Select item 148794171813.

rs1487941718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:71928611 (GRCh38)
16:71962514 (GRCh37)
Canonical SPDI:: NC_000016.10:71928610:G:A
Gene:: IST1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.71928611G>A, NC_000016.9:g.71962514G>A, NG_032958.1:g.76368C>T, NM_014761.4:c.*812G>A, NM_014761.3:c.*812G>A, NM_001270975.2:c.*798G>A, NM_001270975.1:c.*798G>A, NM_001270977.2:c.*798G>A, NM_001270977.1:c.*798G>A, NM_001270978.2:c.*798G>A, NM_001270978.1:c.*798G>A, NM_001270976.1:c.*798G>A, NM_001270979.1:c.*798G>A

Select item 148789583214.

rs1487895832 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAA>- [Show Flanks]
Chromosome:: 16:71929450 (GRCh38)
16:71963353 (GRCh37)
Canonical SPDI:: NC_000016.10:71929446:AAACAAA:AAA
Gene:: IST1 (Varview), PKD1L3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.71929450_71929453del, NC_000016.9:g.71963353_71963356del, NG_032958.1:g.75529_75532del, NM_014761.4:c.*1651_*1654del, NM_014761.3:c.*1651_*1654del, NM_001270975.2:c.*1637_*1640del, NM_001270975.1:c.*1637_*1640del, NM_001270977.2:c.*1637_*1640del, NM_001270977.1:c.*1637_*1640del, NM_001270978.2:c.*1637_*1640del, NM_001270978.1:c.*1637_*1640del, NM_001270976.1:c.*1637_*1640del, NM_001270979.1:c.*1637_*1640del

Select item 148710575815.

rs1487105758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:71928521 (GRCh38)
16:71962424 (GRCh37)
Canonical SPDI:: NC_000016.10:71928520:C:T
Gene:: IST1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000043/6 (GnomAD)
T=0.000071/2 (TOMMO)
HGVS:: NC_000016.10:g.71928521C>T, NC_000016.9:g.71962424C>T, NG_032958.1:g.76458G>A, NM_014761.4:c.*722C>T, NM_014761.3:c.*722C>T, NM_001270975.2:c.*708C>T, NM_001270975.1:c.*708C>T, NM_001270977.2:c.*708C>T, NM_001270977.1:c.*708C>T, NM_001270978.2:c.*708C>T, NM_001270978.1:c.*708C>T, NM_001270976.1:c.*708C>T, NM_001270979.1:c.*708C>T

Select item 148554586216.

rs1485545862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:71917069 (GRCh38)
16:71950972 (GRCh37)
Canonical SPDI:: NC_000016.10:71917068:G:C
Gene:: IST1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.71917069G>C, NC_000016.9:g.71950972G>C, NM_014761.4:c.292G>C, NM_014761.3:c.292G>C, NM_001270975.2:c.292G>C, NM_001270975.1:c.292G>C, NM_001270977.2:c.292G>C, NM_001270977.1:c.292G>C, NM_001270976.1:c.331G>C, NP_055576.2:p.Glu98Gln, NP_001257904.1:p.Glu98Gln, NP_001257906.1:p.Glu98Gln, NP_001257905.1:p.Glu111Gln

Select item 148477562817.

rs1484775628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:71930311 (GRCh38)
16:71964214 (GRCh37)
Canonical SPDI:: NC_000016.10:71930310:G:A
Gene:: IST1 (Varview), PKD1L3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_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_000016.10:g.71930311G>A, NC_000016.9:g.71964214G>A, NG_032958.1:g.74668C>T, NM_014761.4:c.*2512G>A, NM_014761.3:c.*2512G>A, NM_001270975.2:c.*2498G>A, NM_001270975.1:c.*2498G>A, NM_001270977.2:c.*2498G>A, NM_001270977.1:c.*2498G>A, NM_001270978.2:c.*2498G>A, NM_001270978.1:c.*2498G>A, NM_001270976.1:c.*2498G>A, NM_001270979.1:c.*2498G>A

Select item 148457784018.

rs1484577840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:71929717 (GRCh38)
16:71963620 (GRCh37)
Canonical SPDI:: NC_000016.10:71929716:G:A
Gene:: IST1 (Varview), PKD1L3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.71929717G>A, NC_000016.9:g.71963620G>A, NG_032958.1:g.75262C>T, NM_014761.4:c.*1918G>A, NM_014761.3:c.*1918G>A, NM_001270975.2:c.*1904G>A, NM_001270975.1:c.*1904G>A, NM_001270977.2:c.*1904G>A, NM_001270977.1:c.*1904G>A, NM_001270978.2:c.*1904G>A, NM_001270978.1:c.*1904G>A, NM_001270976.1:c.*1904G>A, NM_001270979.1:c.*1904G>A

Select item 148387446519.

rs1483874465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:71929292 (GRCh38)
16:71963195 (GRCh37)
Canonical SPDI:: NC_000016.10:71929291:C:T
Gene:: IST1 (Varview), PKD1L3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.71929292C>T, NC_000016.9:g.71963195C>T, NG_032958.1:g.75687G>A, NM_014761.4:c.*1493C>T, NM_014761.3:c.*1493C>T, NM_001270975.2:c.*1479C>T, NM_001270975.1:c.*1479C>T, NM_001270977.2:c.*1479C>T, NM_001270977.1:c.*1479C>T, NM_001270978.2:c.*1479C>T, NM_001270978.1:c.*1479C>T, NM_001270976.1:c.*1479C>T, NM_001270979.1:c.*1479C>T

Select item 148355572320.

rs1483555723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 16:71928431 (GRCh38)
16:71962334 (GRCh37)
Canonical SPDI:: NC_000016.10:71928430:A:C,NC_000016.10:71928430:A:G
Gene:: IST1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.71928431A>C, NC_000016.10:g.71928431A>G, NC_000016.9:g.71962334A>C, NC_000016.9:g.71962334A>G, NG_032958.1:g.76548T>G, NG_032958.1:g.76548T>C, NM_014761.4:c.*632A>C, NM_014761.4:c.*632A>G, NM_014761.3:c.*632A>C, NM_014761.3:c.*632A>G, NM_001270975.2:c.*618A>C, NM_001270975.2:c.*618A>G, NM_001270975.1:c.*618A>C, NM_001270975.1:c.*618A>G, NM_001270977.2:c.*618A>C, NM_001270977.2:c.*618A>G, NM_001270977.1:c.*618A>C, NM_001270977.1:c.*618A>G, NM_001270978.2:c.*618A>C, NM_001270978.2:c.*618A>G, NM_001270978.1:c.*618A>C, NM_001270978.1:c.*618A>G, NM_001270976.1:c.*618A>C, NM_001270976.1:c.*618A>G, NM_001270979.1:c.*618A>C, NM_001270979.1:c.*618A>G

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity