SNP Links for Gene (Select 118813) - SNP

Select item 14915095451.

rs1491509545 has merged into rs71488840 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:97746060 (GRCh38)
10:99505817 (GRCh37)
Canonical SPDI:: NC_000010.11:97746051:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000010.11:97746051:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:97746051:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:97746051:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:97746051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:97746051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:97746051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:97746051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:97746051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:97746051:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: ZFYVE27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.0274/16 (NorthernSweden)
HGVS:: NC_000010.11:g.97746060_97746066del, NC_000010.11:g.97746062_97746066del, NC_000010.11:g.97746063_97746066del, NC_000010.11:g.97746064_97746066del, NC_000010.11:g.97746065_97746066del, NC_000010.11:g.97746066del, NC_000010.11:g.97746066dup, NC_000010.11:g.97746065_97746066dup, NC_000010.11:g.97746064_97746066dup, NC_000010.11:g.97746062_97746066dup, NC_000010.10:g.99505817_99505823del, NC_000010.10:g.99505819_99505823del, NC_000010.10:g.99505820_99505823del, NC_000010.10:g.99505821_99505823del, NC_000010.10:g.99505822_99505823del, NC_000010.10:g.99505823del, NC_000010.10:g.99505823dup, NC_000010.10:g.99505822_99505823dup, NC_000010.10:g.99505821_99505823dup, NC_000010.10:g.99505819_99505823dup, NG_017075.1:g.13940_13946del, NG_017075.1:g.13942_13946del, NG_017075.1:g.13943_13946del, NG_017075.1:g.13944_13946del, NG_017075.1:g.13945_13946del, NG_017075.1:g.13946del, NG_017075.1:g.13946dup, NG_017075.1:g.13945_13946dup, NG_017075.1:g.13944_13946dup, NG_017075.1:g.13942_13946dup

Select item 14914288632.

rs1491428863 has merged into rs773578612 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 10:97739247 (GRCh38)
10:99499004 (GRCh37)
Canonical SPDI:: NC_000010.11:97739234:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:97739234:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:97739234:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:97739234:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:97739234:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: ZFYVE27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.00615/103 (TOMMO)
A=0.0128/82 (1000Genomes)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000010.11:g.97739247_97739249del, NC_000010.11:g.97739248_97739249del, NC_000010.11:g.97739249del, NC_000010.11:g.97739249dup, NC_000010.11:g.97739248_97739249dup, NC_000010.10:g.99499004_99499006del, NC_000010.10:g.99499005_99499006del, NC_000010.10:g.99499006del, NC_000010.10:g.99499006dup, NC_000010.10:g.99499005_99499006dup, NG_017075.1:g.7127_7129del, NG_017075.1:g.7128_7129del, NG_017075.1:g.7129del, NG_017075.1:g.7129dup, NG_017075.1:g.7128_7129dup

Select item 14912141213.

rs1491214121 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:97739234 (GRCh38)
10:99498991 (GRCh37)
Canonical SPDI:: NC_000010.11:97739233:TA:
Gene:: ZFYVE27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000010.11:g.97739234_97739235del, NC_000010.10:g.99498991_99498992del, NG_017075.1:g.7114_7115del

Select item 14910939264.

rs1491093926 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ACACA,ATA,ATATATATATATATA,ATATATATATATATATATA [Show Flanks]
Chromosome:: 10:97746052 (GRCh38)
10:99505810 (GRCh37)
Canonical SPDI:: NC_000010.11:97746052::A,NC_000010.11:97746052::ACACA,NC_000010.11:97746052::ATA,NC_000010.11:97746052::ATATATATATATATA,NC_000010.11:97746052::ATATATATATATATATATA
Gene:: ZFYVE27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.00071/7 (TOMMO)
HGVS:: NC_000010.11:g.97746052_97746053insA, NC_000010.11:g.97746052_97746053insACACA, NC_000010.11:g.97746052_97746053insATA, NC_000010.11:g.97746052_97746053insATATATATATATATA, NC_000010.11:g.97746052_97746053insATATATATATATATATATA, NC_000010.10:g.99505809_99505810insA, NC_000010.10:g.99505809_99505810insACACA, NC_000010.10:g.99505809_99505810insATA, NC_000010.10:g.99505809_99505810insATATATATATATATA, NC_000010.10:g.99505809_99505810insATATATATATATATATATA, NG_017075.1:g.13932_13933insA, NG_017075.1:g.13932_13933insACACA, NG_017075.1:g.13932_13933insATA, NG_017075.1:g.13932_13933insATATATATATATATA, NG_017075.1:g.13932_13933insATATATATATATATATATA

Select item 14909098255.

rs1490909825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:97753044 (GRCh38)
10:99512801 (GRCh37)
Canonical SPDI:: NC_000010.11:97753043:G:C
Gene:: ZFYVE27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.97753044G>C, NC_000010.10:g.99512801G>C, NG_017075.1:g.20924G>C, NM_144588.7:c.904G>C, NM_144588.6:c.904G>C, NM_001002261.4:c.919G>C, NM_001002261.3:c.919G>C, NM_001002262.4:c.883G>C, NM_001002262.3:c.883G>C, NM_001174119.2:c.787G>C, NM_001174119.1:c.787G>C, NM_001174121.2:c.604G>C, NM_001174121.1:c.604G>C, NM_001174120.2:c.625G>C, NM_001174120.1:c.625G>C, NM_001174122.2:c.529G>C, NM_001174122.1:c.529G>C, NR_169801.1:n.1093G>C, NR_169805.1:n.1082G>C, NR_169810.1:n.1078G>C, NR_169803.1:n.1053G>C, NR_169796.1:n.1078G>C, NR_169809.1:n.1007G>C, NM_001385876.1:c.937G>C, NM_001385871.1:c.919G>C, NR_169808.1:n.1110G>C, NM_001385875.1:c.904G>C, NM_001385879.1:c.898G>C, NM_001385877.1:c.901G>C, NM_001385890.1:c.715G>C, NM_001385878.1:c.898G>C, NR_169806.1:n.1082G>C, NR_169798.1:n.1078G>C, NM_001385881.1:c.883G>C, NM_001385880.1:c.883G>C, NR_169794.1:n.1074G>C, NM_001385895.1:c.694G>C, NR_169804.1:n.1071G>C, NM_001385893.1:c.694G>C, NR_169811.1:n.1057G>C, NM_001385897.1:c.679G>C, NM_001385898.1:c.679G>C, NM_001385899.1:c.667G>C, NM_001385900.1:c.667G>C, NM_001385903.1:c.661G>C, NM_001385904.1:c.661G>C, NM_001385885.1:c.823G>C, NR_169795.1:n.1011G>C, NM_001385905.1:c.646G>C, NM_001385888.1:c.802G>C, NM_001385915.1:c.604G>C, NM_001385887.1:c.802G>C, NM_001385886.1:c.802G>C, NM_001385889.1:c.787G>C, NM_001385891.1:c.715G>C, NM_001385916.1:c.550G>C, NM_001385892.1:c.700G>C, NM_001385894.1:c.694G>C, NM_001385896.1:c.679G>C, NR_169802.1:n.739G>C, NR_169797.1:n.865G>C, NM_001385902.1:c.661G>C, NM_001385901.1:c.661G>C, NM_001385908.1:c.646G>C, NM_001385906.1:c.646G>C, NM_001385911.1:c.640G>C, NM_001385918.1:c.550G>C, NR_169799.1:n.699G>C, NR_169800.1:n.657G>C, NM_001385919.1:c.250G>C, NM_001385882.1:c.898G>C, NM_001385884.1:c.883G>C, NM_001385883.1:c.883G>C, XM_011539252.3:c.919G>C, XM_011539252.2:c.919G>C, XM_011539252.1:c.919G>C, XM_011539253.3:c.898G>C, XM_011539253.2:c.898G>C, XM_011539253.1:c.898G>C, XR_945594.3:n.1114G>C, XR_945594.2:n.1114G>C, XR_945594.1:n.1119G>C, XM_017015646.2:c.883G>C, XM_017015646.1:c.883G>C, XM_017015644.1:c.919G>C, XM_017015645.1:c.898G>C, NM_001385917.1:c.550G>C, XM_047424567.1:c.682G>C, NP_653189.3:p.Asp302His, NP_001002261.1:p.Asp307His, NP_001002262.1:p.Asp295His, NP_001167590.1:p.Asp263His, NP_001167592.1:p.Asp202His, NP_001167591.1:p.Asp209His, NP_001167593.1:p.Asp177His, NP_001372805.1:p.Asp313His, NP_001372800.1:p.Asp307His, NP_001372804.1:p.Asp302His, NP_001372808.1:p.Asp300His, NP_001372806.1:p.Asp301His, NP_001372819.1:p.Asp239His, NP_001372807.1:p.Asp300His, NP_001372810.1:p.Asp295His, NP_001372809.1:p.Asp295His, NP_001372824.1:p.Asp232His, NP_001372822.1:p.Asp232His, NP_001372826.1:p.Asp227His, NP_001372827.1:p.Asp227His, NP_001372828.1:p.Asp223His, NP_001372829.1:p.Asp223His, NP_001372832.1:p.Asp221His, NP_001372833.1:p.Asp221His, NP_001372814.1:p.Asp275His, NP_001372834.1:p.Asp216His, NP_001372817.1:p.Asp268His, NP_001372844.1:p.Asp202His, NP_001372816.1:p.Asp268His, NP_001372815.1:p.Asp268His, NP_001372818.1:p.Asp263His, NP_001372820.1:p.Asp239His, NP_001372845.1:p.Asp184His, NP_001372821.1:p.Asp234His, NP_001372823.1:p.Asp232His, NP_001372825.1:p.Asp227His, NP_001372831.1:p.Asp221His, NP_001372830.1:p.Asp221His, NP_001372837.1:p.Asp216His, NP_001372835.1:p.Asp216His, NP_001372840.1:p.Asp214His, NP_001372847.1:p.Asp184His, NP_001372848.1:p.Asp84His, NP_001372811.1:p.Asp300His, NP_001372813.1:p.Asp295His, NP_001372812.1:p.Asp295His, XP_011537554.1:p.Asp307His, XP_011537555.1:p.Asp300His, XP_016871135.1:p.Asp295His, XP_016871133.1:p.Asp307His, XP_016871134.1:p.Asp300His, XP_047280523.1:p.Asp228His

Select item 14908130396.

rs1490813039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:97755170 (GRCh38)
10:99514927 (GRCh37)
Canonical SPDI:: NC_000010.11:97755169:C:A,NC_000010.11:97755169:C:T
Gene:: ZFYVE27 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.97755170C>A, NC_000010.11:g.97755170C>T, NC_000010.10:g.99514927C>A, NC_000010.10:g.99514927C>T, NG_017075.1:g.23050C>A, NG_017075.1:g.23050C>T, XM_017015646.2:c.*418C>A, XM_017015646.2:c.*418C>T, XM_017015646.1:c.*418C>A, XM_017015646.1:c.*418C>T, XM_017015644.1:c.*418C>A, XM_017015644.1:c.*418C>T, XM_017015645.1:c.*418C>A, XM_017015645.1:c.*418C>T

Select item 14907545187.

rs1490754518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:97740439 (GRCh38)
10:99500196 (GRCh37)
Canonical SPDI:: NC_000010.11:97740438:C:T
Gene:: ZFYVE27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.97740439C>T, NC_000010.10:g.99500196C>T, NG_017075.1:g.8319C>T

Select item 14906845008.

rs1490684500 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:97754249 (GRCh38)
10:99514006 (GRCh37)
Canonical SPDI:: NC_000010.11:97754248:A:G
Gene:: ZFYVE27 (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_000010.11:g.97754249A>G, NC_000010.10:g.99514006A>G, NG_017075.1:g.22129A>G

Select item 14905667599.

rs1490566759 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 10:97746701 (GRCh38)
10:99506458 (GRCh37)
Canonical SPDI:: NC_000010.11:97746700:AC:
Gene:: ZFYVE27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0004/2 (ALFA)
HGVS:: NC_000010.11:g.97746701_97746702del, NC_000010.10:g.99506458_99506459del, NG_017075.1:g.14581_14582del

Select item 149048372710.

rs1490483727 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:97746415 (GRCh38)
10:99506172 (GRCh37)
Canonical SPDI:: NC_000010.11:97746414:A:G
Gene:: ZFYVE27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000034/9 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000010.11:g.97746415A>G, NC_000010.10:g.99506172A>G, NG_017075.1:g.14295A>G

Select item 149026816911.

rs1490268169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:97740893 (GRCh38)
10:99500650 (GRCh37)
Canonical SPDI:: NC_000010.11:97740892:G:T
Gene:: ZFYVE27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.97740893G>T, NC_000010.10:g.99500650G>T, NG_017075.1:g.8773G>T

Select item 149021433612.

rs1490214336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:97755619 (GRCh38)
10:99515376 (GRCh37)
Canonical SPDI:: NC_000010.11:97755618:G:A
Gene:: ZFYVE27 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.97755619G>A, NC_000010.10:g.99515376G>A, NG_017075.1:g.23499G>A, XM_017015646.2:c.*867G>A, XM_017015646.1:c.*867G>A, XM_017015644.1:c.*867G>A, XM_017015645.1:c.*867G>A

Select item 149015344513.

rs1490153445 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT [Show Flanks]
Chromosome:: 10:97747278 (GRCh38)
10:99507035 (GRCh37)
Canonical SPDI:: NC_000010.11:97747276:TTT:T,NC_000010.11:97747276:TTT:TTTT
Gene:: ZFYVE27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.97747278_97747279del, NC_000010.11:g.97747279dup, NC_000010.10:g.99507035_99507036del, NC_000010.10:g.99507036dup, NG_017075.1:g.15158_15159del, NG_017075.1:g.15159dup

Select item 148999422414.

rs1489994224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:97746781 (GRCh38)
10:99506538 (GRCh37)
Canonical SPDI:: NC_000010.11:97746780:C:T
Gene:: ZFYVE27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.97746781C>T, NC_000010.10:g.99506538C>T, NG_017075.1:g.14661C>T

Select item 148998153015.

rs1489981530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:97747747 (GRCh38)
10:99507504 (GRCh37)
Canonical SPDI:: NC_000010.11:97747746:A:C
Gene:: ZFYVE27 (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_000010.11:g.97747747A>C, NC_000010.10:g.99507504A>C, NG_017075.1:g.15627A>C

Select item 148978493416.

rs1489784934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:97738482 (GRCh38)
10:99498239 (GRCh37)
Canonical SPDI:: NC_000010.11:97738481:A:G,NC_000010.11:97738481:A:T
Gene:: ZFYVE27 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.97738482A>G, NC_000010.11:g.97738482A>T, NC_000010.10:g.99498239A>G, NC_000010.10:g.99498239A>T, NG_017075.1:g.6362A>G, NG_017075.1:g.6362A>T, NM_144588.7:c.5A>G, NM_144588.7:c.5A>T, NM_144588.6:c.5A>G, NM_144588.6:c.5A>T, NM_001002261.4:c.5A>G, NM_001002261.4:c.5A>T, NM_001002261.3:c.5A>G, NM_001002261.3:c.5A>T, NM_001002262.4:c.5A>G, NM_001002262.4:c.5A>T, NM_001002262.3:c.5A>G, NM_001002262.3:c.5A>T, NM_001174119.2:c.5A>G, NM_001174119.2:c.5A>T, NM_001174119.1:c.5A>G, NM_001174119.1:c.5A>T, NM_001174120.2:c.5A>G, NM_001174120.2:c.5A>T, NM_001174120.1:c.5A>G, NM_001174120.1:c.5A>T, NM_001174122.2:c.5A>G, NM_001174122.2:c.5A>T, NM_001174122.1:c.5A>G, NM_001174122.1:c.5A>T, NR_169801.1:n.200A>G, NR_169801.1:n.200A>T, NR_169805.1:n.204A>G, NR_169805.1:n.204A>T, NR_169810.1:n.200A>G, NR_169810.1:n.200A>T, NR_169803.1:n.200A>G, NR_169803.1:n.200A>T, NR_169796.1:n.200A>G, NR_169796.1:n.200A>T, NR_169809.1:n.200A>G, NR_169809.1:n.200A>T, NM_001385876.1:c.5A>G, NM_001385876.1:c.5A>T, NM_001385871.1:c.5A>G, NM_001385871.1:c.5A>T, NR_169808.1:n.204A>G, NR_169808.1:n.204A>T, NM_001385875.1:c.5A>G, NM_001385875.1:c.5A>T, NM_001385879.1:c.5A>G, NM_001385879.1:c.5A>T, NM_001385877.1:c.5A>G, NM_001385877.1:c.5A>T, NM_001385890.1:c.-175A>G, NM_001385890.1:c.-175A>T, NM_001385878.1:c.5A>G, NM_001385878.1:c.5A>T, NR_169806.1:n.200A>G, NR_169806.1:n.200A>T, NR_169798.1:n.200A>G, NR_169798.1:n.200A>T, NM_001385881.1:c.5A>G, NM_001385881.1:c.5A>T, NM_001385880.1:c.5A>G, NM_001385880.1:c.5A>T, NR_169794.1:n.200A>G, NR_169794.1:n.200A>T, NM_001385895.1:c.-175A>G, NM_001385895.1:c.-175A>T, NR_169804.1:n.204A>G, NR_169804.1:n.204A>T, NM_001385893.1:c.-175A>G, NM_001385893.1:c.-175A>T, NR_169811.1:n.200A>G, NR_169811.1:n.200A>T, NM_001385897.1:c.-175A>G, NM_001385897.1:c.-175A>T, NM_001385898.1:c.-175A>G, NM_001385898.1:c.-175A>T, NM_001385899.1:c.-162A>G, NM_001385899.1:c.-162A>T, NM_001385900.1:c.-162A>G, NM_001385900.1:c.-162A>T, NM_001385903.1:c.-162A>G, NM_001385903.1:c.-162A>T, NM_001385904.1:c.-162A>G, NM_001385904.1:c.-162A>T, NM_001385885.1:c.5A>G, NM_001385885.1:c.5A>T, NR_169795.1:n.204A>G, NR_169795.1:n.204A>T, NM_001385905.1:c.-162A>G, NM_001385905.1:c.-162A>T, NM_001385888.1:c.5A>G, NM_001385888.1:c.5A>T, NM_001385915.1:c.-190A>G, NM_001385915.1:c.-190A>T, NM_001385887.1:c.5A>G, NM_001385887.1:c.5A>T, NM_001385886.1:c.5A>G, NM_001385886.1:c.5A>T, NM_001385889.1:c.5A>G, NM_001385889.1:c.5A>T, NM_001385916.1:c.-162A>G, NM_001385916.1:c.-162A>T, NR_169802.1:n.200A>G, NR_169802.1:n.200A>T, NR_169797.1:n.200A>G, NR_169797.1:n.200A>T, NM_001385902.1:c.5A>G, NM_001385902.1:c.5A>T, NM_001385901.1:c.5A>G, NM_001385901.1:c.5A>T, NM_001385908.1:c.5A>G, NM_001385908.1:c.5A>T, NM_001385906.1:c.5A>G, NM_001385906.1:c.5A>T, NM_001385911.1:c.5A>G, NM_001385911.1:c.5A>T, NM_001385918.1:c.5A>G, NM_001385918.1:c.5A>T, NR_169799.1:n.200A>G, NR_169799.1:n.200A>T, NR_169800.1:n.200A>G, NR_169800.1:n.200A>T, NM_001385919.1:c.-162A>G, NM_001385919.1:c.-162A>T, NM_001385882.1:c.5A>G, NM_001385882.1:c.5A>T, NM_001385884.1:c.5A>G, NM_001385884.1:c.5A>T, NM_001385883.1:c.5A>G, NM_001385883.1:c.5A>T, XM_011539252.3:c.5A>G, XM_011539252.3:c.5A>T, XM_011539252.2:c.5A>G, XM_011539252.2:c.5A>T, XM_011539252.1:c.5A>G, XM_011539252.1:c.5A>T, XM_011539253.3:c.5A>G, XM_011539253.3:c.5A>T, XM_011539253.2:c.5A>G, XM_011539253.2:c.5A>T, XM_011539253.1:c.5A>G, XM_011539253.1:c.5A>T, XR_945594.3:n.200A>G, XR_945594.3:n.200A>T, XR_945594.2:n.200A>G, XR_945594.2:n.200A>T, XR_945594.1:n.205A>G, XR_945594.1:n.205A>T, XM_017015646.2:c.5A>G, XM_017015646.2:c.5A>T, XM_017015646.1:c.5A>G, XM_017015646.1:c.5A>T, XM_017015644.1:c.5A>G, XM_017015644.1:c.5A>T, XM_017015645.1:c.5A>G, XM_017015645.1:c.5A>T, NM_001385917.1:c.-162A>G, NM_001385917.1:c.-162A>T, NP_653189.3:p.Gln2Arg, NP_653189.3:p.Gln2Leu, NP_001002261.1:p.Gln2Arg, NP_001002261.1:p.Gln2Leu, NP_001002262.1:p.Gln2Arg, NP_001002262.1:p.Gln2Leu, NP_001167590.1:p.Gln2Arg, NP_001167590.1:p.Gln2Leu, NP_001167591.1:p.Gln2Arg, NP_001167591.1:p.Gln2Leu, NP_001167593.1:p.Gln2Arg, NP_001167593.1:p.Gln2Leu, NP_001372805.1:p.Gln2Arg, NP_001372805.1:p.Gln2Leu, NP_001372800.1:p.Gln2Arg, NP_001372800.1:p.Gln2Leu, NP_001372804.1:p.Gln2Arg, NP_001372804.1:p.Gln2Leu, NP_001372808.1:p.Gln2Arg, NP_001372808.1:p.Gln2Leu, NP_001372806.1:p.Gln2Arg, NP_001372806.1:p.Gln2Leu, NP_001372807.1:p.Gln2Arg, NP_001372807.1:p.Gln2Leu, NP_001372810.1:p.Gln2Arg, NP_001372810.1:p.Gln2Leu, NP_001372809.1:p.Gln2Arg, NP_001372809.1:p.Gln2Leu, NP_001372814.1:p.Gln2Arg, NP_001372814.1:p.Gln2Leu, NP_001372817.1:p.Gln2Arg, NP_001372817.1:p.Gln2Leu, NP_001372816.1:p.Gln2Arg, NP_001372816.1:p.Gln2Leu, NP_001372815.1:p.Gln2Arg, NP_001372815.1:p.Gln2Leu, NP_001372818.1:p.Gln2Arg, NP_001372818.1:p.Gln2Leu, NP_001372831.1:p.Gln2Arg, NP_001372831.1:p.Gln2Leu, NP_001372830.1:p.Gln2Arg, NP_001372830.1:p.Gln2Leu, NP_001372837.1:p.Gln2Arg, NP_001372837.1:p.Gln2Leu, NP_001372835.1:p.Gln2Arg, NP_001372835.1:p.Gln2Leu, NP_001372840.1:p.Gln2Arg, NP_001372840.1:p.Gln2Leu, NP_001372847.1:p.Gln2Arg, NP_001372847.1:p.Gln2Leu, NP_001372811.1:p.Gln2Arg, NP_001372811.1:p.Gln2Leu, NP_001372813.1:p.Gln2Arg, NP_001372813.1:p.Gln2Leu, NP_001372812.1:p.Gln2Arg, NP_001372812.1:p.Gln2Leu, XP_011537554.1:p.Gln2Arg, XP_011537554.1:p.Gln2Leu, XP_011537555.1:p.Gln2Arg, XP_011537555.1:p.Gln2Leu, XP_016871135.1:p.Gln2Arg, XP_016871135.1:p.Gln2Leu, XP_016871133.1:p.Gln2Arg, XP_016871133.1:p.Gln2Leu, XP_016871134.1:p.Gln2Arg, XP_016871134.1:p.Gln2Leu

Select item 148974504017.

rs1489745040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:97737414 (GRCh38)
10:99497171 (GRCh37)
Canonical SPDI:: NC_000010.11:97737413:C:A
Gene:: ZFYVE27 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.97737414C>A, NC_000010.10:g.99497171C>A, NG_017075.1:g.5294C>A

Select item 148939395018.

rs1489393950 has merged into rs1269858777 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGTGGTGG>-,TGGTGG,TGGTGGTGGTGG,TGGTGGTGGTGGTGG,TGGTGGTGGTGGTGGTGG [Show Flanks]
Chromosome:: 10:97742416 (GRCh38)
10:99502173 (GRCh37)
Canonical SPDI:: NC_000010.11:97742403:TGGTGGTGGTGGTGGTGGTGG:TGGTGGTGGTGG,NC_000010.11:97742403:TGGTGGTGGTGGTGGTGGTGG:TGGTGGTGGTGGTGGTGG,NC_000010.11:97742403:TGGTGGTGGTGGTGGTGGTGG:TGGTGGTGGTGGTGGTGGTGGTGG,NC_000010.11:97742403:TGGTGGTGGTGGTGGTGGTGG:TGGTGGTGGTGGTGGTGGTGGTGGTGG,NC_000010.11:97742403:TGGTGGTGGTGGTGGTGGTGG:TGGTGGTGGTGGTGGTGGTGGTGGTGGTGG
Gene:: ZFYVE27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGGTGGTGGTGGTGGTGG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
TGG=0.000035/1 (TOMMO)
TGG=0.000223/1 (Estonian)
TGG=0.000312/2 (1000Genomes)
HGVS:: NC_000010.11:g.97742404TGG[4], NC_000010.11:g.97742404TGG[6], NC_000010.11:g.97742404TGG[8], NC_000010.11:g.97742404TGG[9], NC_000010.11:g.97742404TGG[10], NC_000010.10:g.99502161TGG[4], NC_000010.10:g.99502161TGG[6], NC_000010.10:g.99502161TGG[8], NC_000010.10:g.99502161TGG[9], NC_000010.10:g.99502161TGG[10], NG_017075.1:g.10284TGG[4], NG_017075.1:g.10284TGG[6], NG_017075.1:g.10284TGG[8], NG_017075.1:g.10284TGG[9], NG_017075.1:g.10284TGG[10]

Select item 148939219619.

rs1489392196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:97751839 (GRCh38)
10:99511596 (GRCh37)
Canonical SPDI:: NC_000010.11:97751838:C:T
Gene:: ZFYVE27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.97751839C>T, NC_000010.10:g.99511596C>T, NG_017075.1:g.19719C>T

Select item 148918347520.

rs1489183475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:97760431 (GRCh38)
10:99520188 (GRCh37)
Canonical SPDI:: NC_000010.11:97760430:G:A
Gene:: ZFYVE27 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.97760431G>A, NC_000010.10:g.99520188G>A, NG_017075.1:g.28311G>A, NM_144588.7:c.*1131G>A, NM_144588.6:c.*1131G>A, NM_001002261.4:c.*1131G>A, NM_001002261.3:c.*1131G>A, NM_001002262.4:c.*1131G>A, NM_001002262.3:c.*1131G>A, NM_001174119.2:c.*1131G>A, NM_001174119.1:c.*1131G>A, NM_001174121.2:c.*1131G>A, NM_001174121.1:c.*1131G>A, NM_001174120.2:c.*1131G>A, NM_001174120.1:c.*1131G>A, NM_001174122.2:c.*1131G>A, NM_001174122.1:c.*1131G>A, NR_169801.1:n.2688G>A, NR_169805.1:n.2677G>A, NR_169810.1:n.2673G>A, NR_169803.1:n.2648G>A, NR_169796.1:n.2626G>A, NR_169809.1:n.2602G>A, NM_001385876.1:c.*1131G>A, NM_001385871.1:c.*1131G>A, NR_169808.1:n.2573G>A, NM_001385875.1:c.*1131G>A, NM_001385879.1:c.*1131G>A, NM_001385877.1:c.*1131G>A, NM_001385890.1:c.*1131G>A, NM_001385878.1:c.*1131G>A, NR_169806.1:n.2545G>A, NR_169798.1:n.2541G>A, NM_001385881.1:c.*1131G>A, NM_001385880.1:c.*1131G>A, NR_169794.1:n.2537G>A, NM_001385895.1:c.*1131G>A, NR_169804.1:n.2534G>A, NM_001385893.1:c.*1131G>A, NR_169811.1:n.2520G>A, NM_001385897.1:c.*1131G>A, NM_001385898.1:c.*1131G>A, NM_001385899.1:c.*1131G>A, NM_001385900.1:c.*1131G>A, NM_001385903.1:c.*1131G>A, NM_001385904.1:c.*1131G>A, NM_001385885.1:c.*1131G>A, NR_169795.1:n.2474G>A, NM_001385905.1:c.*1131G>A, NM_001385888.1:c.*1131G>A, NM_001385915.1:c.*1131G>A, NM_001385887.1:c.*1131G>A, NM_001385886.1:c.*1131G>A, NM_001385889.1:c.*1131G>A, NM_001385891.1:c.*1131G>A, NM_001385916.1:c.*1131G>A, NM_001385892.1:c.*1131G>A, NM_001385894.1:c.*1131G>A, NM_001385896.1:c.*1131G>A, NR_169802.1:n.2334G>A, NR_169797.1:n.2328G>A, NM_001385902.1:c.*1131G>A, NM_001385901.1:c.*1131G>A, NM_001385908.1:c.*1131G>A, NM_001385906.1:c.*1131G>A, NM_001385911.1:c.*1131G>A, NM_001385918.1:c.*1131G>A, NR_169799.1:n.2162G>A, NR_169800.1:n.2120G>A, NM_001385919.1:c.*1131G>A, NM_001385917.1:c.*1131G>A, XM_047424567.1:c.*1131G>A

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