SNP Links for Gene (Select 55229) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14911519251.

rs1491151925 has merged into rs3831090 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA [Show Flanks]
Chromosome:: 1:2508625 (GRCh38)
1:2440064 (GRCh37)
Canonical SPDI:: NC_000001.11:2508612:TATATATATATATATATA:TATATATATATA,NC_000001.11:2508612:TATATATATATATATATA:TATATATATATATATA,NC_000001.11:2508612:TATATATATATATATATA:TATATATATATATATATATA,NC_000001.11:2508612:TATATATATATATATATA:TATATATATATATATATATATA,NC_000001.11:2508612:TATATATATATATATATA:TATATATATATATATATATATATA,NC_000001.11:2508612:TATATATATATATATATA:TATATATATATATATATATATATATA,NC_000001.11:2508612:TATATATATATATATATA:TATATATATATATATATATATATATATA
Gene:: PANK4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATA=0./0 (ALFA)
TATATATATA=0.000004/1 (TOPMED)
TA=0.2/8 (GENOME_DK)
TA=0.315895/1582 (1000Genomes)
HGVS:: NC_000001.11:g.2508613TA[6], NC_000001.11:g.2508613TA[8], NC_000001.11:g.2508613TA[10], NC_000001.11:g.2508613TA[11], NC_000001.11:g.2508613TA[12], NC_000001.11:g.2508613TA[13], NC_000001.11:g.2508613TA[14], NC_000001.10:g.2440052TA[6], NC_000001.10:g.2440052TA[8], NC_000001.10:g.2440052TA[10], NC_000001.10:g.2440052TA[11], NC_000001.10:g.2440052TA[12], NC_000001.10:g.2440052TA[13], NC_000001.10:g.2440052TA[14], NT_187515.1:g.59803TA[6], NT_187515.1:g.59803TA[8], NT_187515.1:g.59803TA[10], NT_187515.1:g.59803TA[11], NT_187515.1:g.59803TA[12], NT_187515.1:g.59803TA[13], NT_187515.1:g.59803TA[14], NM_018216.4:c.*217TA[6], NM_018216.4:c.*217TA[8], NM_018216.4:c.*217TA[10], NM_018216.4:c.*217TA[11], NM_018216.4:c.*217TA[12], NM_018216.4:c.*217TA[13], NM_018216.4:c.*217TA[14], NM_018216.3:c.*217TA[6], NM_018216.3:c.*217TA[8], NM_018216.3:c.*217TA[10], NM_018216.3:c.*217TA[11], NM_018216.3:c.*217TA[12], NM_018216.3:c.*217TA[13], NM_018216.3:c.*217TA[14], NM_018216.2:c.*217TA[6], NM_018216.2:c.*217TA[8], NM_018216.2:c.*217TA[10], NM_018216.2:c.*217TA[11], NM_018216.2:c.*217TA[12], NM_018216.2:c.*217TA[13], NM_018216.2:c.*217TA[14], NM_018216.1:c.*217TA[6], NM_018216.1:c.*217TA[8], NM_018216.1:c.*217TA[10], NM_018216.1:c.*217TA[11], NM_018216.1:c.*217TA[12], NM_018216.1:c.*217TA[13], NM_018216.1:c.*217TA[14], XM_047424306.1:c.*217TA[6], XM_047424306.1:c.*217TA[8], XM_047424306.1:c.*217TA[10], XM_047424306.1:c.*217TA[11], XM_047424306.1:c.*217TA[12], XM_047424306.1:c.*217TA[13], XM_047424306.1:c.*217TA[14]

Select item 14911283142.

rs1491128314 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 1:2508613 (GRCh38)
1:2440053 (GRCh37)
Canonical SPDI:: NC_000001.11:2508613:A:ACA
Gene:: PANK4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
AC=0.00002/1 (GnomAD)
HGVS:: NC_000001.11:g.2508614_2508615insCA, NC_000001.10:g.2440053_2440054insCA, NT_187515.1:g.59804_59805insCA, NM_018216.4:c.*233_*234insGT, NM_018216.3:c.*233_*234insGT, NM_018216.2:c.*233_*234insGT, NM_018216.1:c.*233_*234insGT, XM_047424306.1:c.*233_*234insGT

Select item 14908916103.

rs1490891610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:2515608 (GRCh38)
1:2447047 (GRCh37)
Canonical SPDI:: NC_000001.11:2515607:A:T
Gene:: PANK4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.2515608A>T, NC_000001.10:g.2447047A>T, NT_187515.1:g.66798A>T, NM_018216.4:c.1328T>A, NM_018216.3:c.1328T>A, NM_018216.2:c.1352T>A, NM_018216.1:c.1328T>A, XR_241034.4:n.1337T>A, XR_241034.3:n.1363T>A, XR_241034.2:n.1366T>A, XR_241034.1:n.1363T>A, XM_047424306.1:c.887T>A, NP_060686.3:p.Leu443Gln, XP_047280262.1:p.Leu296Gln

Select item 14907207484.

rs1490720748 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:2522892 (GRCh38)
1:2454331 (GRCh37)
Canonical SPDI:: NC_000001.11:2522891:T:A,NC_000001.11:2522891:T:C
Gene:: PANK4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00616/18 (KOREAN)
HGVS:: NC_000001.11:g.2522892T>A, NC_000001.11:g.2522892T>C, NC_000001.10:g.2454331T>A, NC_000001.10:g.2454331T>C, NT_187515.1:g.74082T>A, NT_187515.1:g.74082T>C

Select item 14902315665.

rs1490231566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:2523605 (GRCh38)
1:2455044 (GRCh37)
Canonical SPDI:: NC_000001.11:2523604:T:C
Gene:: PANK4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.2523605T>C, NC_000001.10:g.2455044T>C, NT_187515.1:g.74795T>C

Select item 14901966566.

rs1490196656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:2520551 (GRCh38)
1:2451990 (GRCh37)
Canonical SPDI:: NC_000001.11:2520550:G:A
Gene:: PANK4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.2520551G>A, NC_000001.10:g.2451990G>A, NT_187515.1:g.71741G>A

Select item 14901519027.

rs1490151902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:2526272 (GRCh38)
1:2457711 (GRCh37)
Canonical SPDI:: NC_000001.11:2526271:C:G
Gene:: PANK4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.2526272C>G, NC_000001.10:g.2457711C>G, NT_187515.1:g.77462C>G

Select item 14901168858.

rs1490116885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:2508719 (GRCh38)
1:2440158 (GRCh37)
Canonical SPDI:: NC_000001.11:2508718:G:A,NC_000001.11:2508718:G:C
Gene:: PANK4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.2508719G>A, NC_000001.11:g.2508719G>C, NC_000001.10:g.2440158G>A, NC_000001.10:g.2440158G>C, NT_187515.1:g.59909G>A, NT_187515.1:g.59909G>C, NM_018216.4:c.*128C>T, NM_018216.4:c.*128C>G, NM_018216.3:c.*128C>T, NM_018216.3:c.*128C>G, NM_018216.2:c.*128C>T, NM_018216.2:c.*128C>G, NM_018216.1:c.*128C>T, NM_018216.1:c.*128C>G, XM_047424306.1:c.*128C>T, XM_047424306.1:c.*128C>G

Select item 14899352169.

rs1489935216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:2515721 (GRCh38)
1:2447160 (GRCh37)
Canonical SPDI:: NC_000001.11:2515720:G:A
Gene:: PANK4 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.2515721G>A, NC_000001.10:g.2447160G>A, NT_187515.1:g.66911G>A

Select item 148965852210.

rs1489658522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:2522783 (GRCh38)
1:2454222 (GRCh37)
Canonical SPDI:: NC_000001.11:2522782:G:A
Gene:: PANK4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.2522783G>A, NC_000001.10:g.2454222G>A, NT_187515.1:g.73973G>A

Select item 148950426911.

rs1489504269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:2510962 (GRCh38)
1:2442401 (GRCh37)
Canonical SPDI:: NC_000001.11:2510961:G:A
Gene:: PANK4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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.2510962G>A, NC_000001.10:g.2442401G>A, NT_187515.1:g.62152G>A

Select item 148927816712.

rs1489278167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:2521965 (GRCh38)
1:2453404 (GRCh37)
Canonical SPDI:: NC_000001.11:2521964:G:C
Gene:: PANK4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.2521965G>C, NC_000001.10:g.2453404G>C, NT_187515.1:g.73155G>C

Select item 148914514013.

rs1489145140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:2516978 (GRCh38)
1:2448417 (GRCh37)
Canonical SPDI:: NC_000001.11:2516977:G:T
Gene:: PANK4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.2516978G>T, NC_000001.10:g.2448417G>T, NT_187515.1:g.68168G>T, XM_011541708.4:c.*904C>A, XM_011541708.3:c.*904C>A, XM_011541708.2:c.*904C>A, XM_011541708.1:c.*904C>A

Select item 148907678414.

rs1489076784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:2526390 (GRCh38)
1:2457829 (GRCh37)
Canonical SPDI:: NC_000001.11:2526389:C:A,NC_000001.11:2526389:C:T
Gene:: PANK4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.2526390C>A, NC_000001.11:g.2526390C>T, NC_000001.10:g.2457829C>A, NC_000001.10:g.2457829C>T, NT_187515.1:g.77580C>A, NT_187515.1:g.77580C>T

Select item 148904738315.

rs1489047383 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:2508472 (GRCh38)
1:2439912 (GRCh37)
Canonical SPDI:: NC_000001.11:2508472:CCCCCC:CCCCCCC
Gene:: PANK4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.2508478dup, NC_000001.10:g.2439917dup, NT_187515.1:g.59668dup

Select item 148890259616.

rs1488902596 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:2508206 (GRCh38)
1:2439645 (GRCh37)
Canonical SPDI:: NC_000001.11:2508205:C:G
Gene:: PANK4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.2508206C>G, NC_000001.10:g.2439645C>G, NT_187515.1:g.59396C>G

Select item 148884609317.

rs1488846093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:2528167 (GRCh38)
1:2459606 (GRCh37)
Canonical SPDI:: NC_000001.11:2528166:G:A,NC_000001.11:2528166:G:C
Gene:: PANK4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.2528167G>A, NC_000001.11:g.2528167G>C, NC_000001.10:g.2459606G>A, NC_000001.10:g.2459606G>C, NT_187515.1:g.79357G>A, NT_187515.1:g.79357G>C

Select item 148880739818.

rs1488807398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:2513917 (GRCh38)
1:2445356 (GRCh37)
Canonical SPDI:: NC_000001.11:2513916:C:G,NC_000001.11:2513916:C:T
Gene:: PANK4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.2513917C>G, NC_000001.11:g.2513917C>T, NC_000001.10:g.2445356C>G, NC_000001.10:g.2445356C>T, NT_187515.1:g.65107C>G, NT_187515.1:g.65107C>T

Select item 148872791419.

rs1488727914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:2525346 (GRCh38)
1:2456785 (GRCh37)
Canonical SPDI:: NC_000001.11:2525345:G:A
Gene:: PANK4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.2525346G>A, NC_000001.10:g.2456785G>A, NT_187515.1:g.76536G>A

Select item 148865554820.

rs1488655548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:2522155 (GRCh38)
1:2453594 (GRCh37)
Canonical SPDI:: NC_000001.11:2522154:T:C
Gene:: PANK4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.2522155T>C, NC_000001.10:g.2453594T>C, NT_187515.1:g.73345T>C

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity