SNP Links for Nucleotide (Select 289802989) - SNP

Links from Nucleotide

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Select item 14910847131.

rs1491084713 has merged into rs34935942 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 5:157468085 (GRCh38)
5:156895093 (GRCh37)
Canonical SPDI:: NC_000005.10:157468071:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:157468071:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:157468071:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:157468071:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:157468071:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: NIPAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
TTTT=0.000008/2 (TOPMED)
T=0.15/6 (GENOME_DK)
T=0.161667/97 (NorthernSweden)
HGVS:: NC_000005.10:g.157468085_157468086del, NC_000005.10:g.157468086del, NC_000005.10:g.157468086dup, NC_000005.10:g.157468085_157468086dup, NC_000005.10:g.157468083_157468086dup, NC_000005.9:g.156895093_156895094del, NC_000005.9:g.156895094del, NC_000005.9:g.156895094dup, NC_000005.9:g.156895093_156895094dup, NC_000005.9:g.156895091_156895094dup, NG_016626.1:g.13067_13068del, NG_016626.1:g.13068del, NG_016626.1:g.13068dup, NG_016626.1:g.13067_13068dup, NG_016626.1:g.13065_13068dup

Select item 14910546632.

rs1491054663 has merged into rs56355740 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 5:157476296 (GRCh38)
5:156903304 (GRCh37)
Canonical SPDI:: NC_000005.10:157476283:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:157476283:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:157476283:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:157476283:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:157476283:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:157476283:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:157476283:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:157476283:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.157476296_157476300del, NC_000005.10:g.157476297_157476300del, NC_000005.10:g.157476298_157476300del, NC_000005.10:g.157476299_157476300del, NC_000005.10:g.157476300del, NC_000005.10:g.157476300dup, NC_000005.10:g.157476299_157476300dup, NC_000005.10:g.157476298_157476300dup, NC_000005.9:g.156903304_156903308del, NC_000005.9:g.156903305_156903308del, NC_000005.9:g.156903306_156903308del, NC_000005.9:g.156903307_156903308del, NC_000005.9:g.156903308del, NC_000005.9:g.156903308dup, NC_000005.9:g.156903307_156903308dup, NC_000005.9:g.156903306_156903308dup, NG_046960.1:g.104536_104540del, NG_046960.1:g.104537_104540del, NG_046960.1:g.104538_104540del, NG_046960.1:g.104539_104540del, NG_046960.1:g.104540del, NG_046960.1:g.104540dup, NG_046960.1:g.104539_104540dup, NG_046960.1:g.104538_104540dup, NG_016626.1:g.21278_21282del, NG_016626.1:g.21279_21282del, NG_016626.1:g.21280_21282del, NG_016626.1:g.21281_21282del, NG_016626.1:g.21282del, NG_016626.1:g.21282dup, NG_016626.1:g.21281_21282dup, NG_016626.1:g.21280_21282dup

Select item 14903984133.

rs1490398413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:157460052 (GRCh38)
5:156887060 (GRCh37)
Canonical SPDI:: NC_000005.10:157460051:G:A,NC_000005.10:157460051:G:C
Gene:: NIPAL4 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_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_000005.10:g.157460052G>A, NC_000005.10:g.157460052G>C, NC_000005.9:g.156887060G>A, NC_000005.9:g.156887060G>C, NG_016626.1:g.5034G>A, NG_016626.1:g.5034G>C, NM_001099287.1:c.-83G>A, NM_001099287.1:c.-83G>C, NM_001172292.1:c.-83G>A, NM_001172292.1:c.-83G>C, NR_136204.1:n.49C>T, NR_136204.1:n.49C>G, NR_136205.1:n.49C>T, NR_136205.1:n.49C>G

Select item 14902339234.

rs1490233923 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 5:157459611 (GRCh38)
5:156886619 (GRCh37)
Canonical SPDI:: NC_000005.10:157459610:C:
Gene:: NIPAL4 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.157459611del, NC_000005.9:g.156886619del, NG_016626.1:g.4593del

Select item 14901812275.

rs1490181227 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:157476721 (GRCh38)
5:156903729 (GRCh37)
Canonical SPDI:: NC_000005.10:157476720:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.157476721A>G, NC_000005.9:g.156903729A>G, NG_046960.1:g.104103T>C, NG_016626.1:g.21703A>G

Select item 14899759626.

rs1489975962 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:157458986 (GRCh38)
5:156885994 (GRCh37)
Canonical SPDI:: NC_000005.10:157458985:T:A
Gene:: NIPAL4 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.157458986T>A, NC_000005.9:g.156885994T>A, NG_016626.1:g.3968T>A

Select item 14896698107.

rs1489669810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:157476245 (GRCh38)
5:156903253 (GRCh37)
Canonical SPDI:: NC_000005.10:157476244:C:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.157476245C>G, NC_000005.9:g.156903253C>G, NG_046960.1:g.104579G>C, NG_016626.1:g.21227C>G

Select item 14896013158.

rs1489601315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:157467871 (GRCh38)
5:156894879 (GRCh37)
Canonical SPDI:: NC_000005.10:157467870:G:T
Gene:: NIPAL4 (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_000005.10:g.157467871G>T, NC_000005.9:g.156894879G>T, NG_016626.1:g.12853G>T

Select item 14893808489.

rs1489380848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:157470248 (GRCh38)
5:156897256 (GRCh37)
Canonical SPDI:: NC_000005.10:157470247:C:T
Gene:: NIPAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0007/3 (ALFA)
T=0.0007/3 (Estonian)
HGVS:: NC_000005.10:g.157470248C>T, NC_000005.9:g.156897256C>T, NG_016626.1:g.15230C>T

Select item 148931360210.

rs1489313602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:157460346 (GRCh38)
5:156887354 (GRCh37)
Canonical SPDI:: NC_000005.10:157460345:G:A
Gene:: NIPAL4 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.157460346G>A, NC_000005.9:g.156887354G>A, NG_016626.1:g.5328G>A, NM_001099287.2:c.26G>A, NM_001099287.1:c.212G>A, NM_001172292.1:c.212G>A, NM_001172292.2:c.26G>A, NP_001092757.2:p.Ser9Asn, NP_001165763.1:p.Ser71Asn

Select item 148930883611.

rs1489308836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:157466521 (GRCh38)
5:156893529 (GRCh37)
Canonical SPDI:: NC_000005.10:157466520:C:A
Gene:: NIPAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.157466521C>A, NC_000005.9:g.156893529C>A, NG_016626.1:g.11503C>A

Select item 148915554512.

rs1489155545 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:157463839 (GRCh38)
5:156890848 (GRCh37)
Canonical SPDI:: NC_000005.10:157463839:TTTTT:TTTTTT
Gene:: NIPAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.157463844dup, NC_000005.9:g.156890852dup, NG_016626.1:g.8826dup

Select item 148907247313.

rs1489072473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:157466812 (GRCh38)
5:156893820 (GRCh37)
Canonical SPDI:: NC_000005.10:157466811:G:A
Gene:: NIPAL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.157466812G>A, NC_000005.9:g.156893820G>A, NG_016626.1:g.11794G>A

Select item 148895039314.

rs1488950393 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:157457859 (GRCh38)
5:156884867 (GRCh37)
Canonical SPDI:: NC_000005.10:157457858:C:T
Gene:: NIPAL4-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000169/2 (ALFA)
T=0.000047/6 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000005.10:g.157457859C>T, NC_000005.9:g.156884867C>T, NG_016626.1:g.2841C>T

Select item 148893224115.

rs1488932241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:157457200 (GRCh38)
5:156884208 (GRCh37)
Canonical SPDI:: NC_000005.10:157457199:G:A
Gene:: NIPAL4-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.157457200G>A, NC_000005.9:g.156884208G>A, NG_016626.1:g.2182G>A

Select item 148881923916.

rs1488819239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:157460065 (GRCh38)
5:156887073 (GRCh37)
Canonical SPDI:: NC_000005.10:157460064:C:A,NC_000005.10:157460064:C:T
Gene:: NIPAL4 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.157460065C>A, NC_000005.10:g.157460065C>T, NC_000005.9:g.156887073C>A, NC_000005.9:g.156887073C>T, NG_016626.1:g.5047C>A, NG_016626.1:g.5047C>T, NM_001099287.1:c.-70C>A, NM_001099287.1:c.-70C>T, NM_001172292.1:c.-70C>A, NM_001172292.1:c.-70C>T, NR_136204.1:n.36G>T, NR_136204.1:n.36G>A, NR_136205.1:n.36G>T, NR_136205.1:n.36G>A

Select item 148862467517.

rs1488624675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:157457336 (GRCh38)
5:156884344 (GRCh37)
Canonical SPDI:: NC_000005.10:157457335:G:C
Gene:: NIPAL4-DT (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_000005.10:g.157457336G>C, NC_000005.9:g.156884344G>C, NG_016626.1:g.2318G>C

Select item 148860709218.

rs1488607092 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:157458847 (GRCh38)
5:156885855 (GRCh37)
Canonical SPDI:: NC_000005.10:157458846:T:C
Gene:: NIPAL4 (Varview), NIPAL4-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000005.10:g.157458847T>C, NC_000005.9:g.156885855T>C, NG_016626.1:g.3829T>C

Select item 148857024019.

rs1488570240 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT [Show Flanks]
Chromosome:: 5:157475142 (GRCh38)
5:156902150 (GRCh37)
Canonical SPDI:: NC_000005.10:157475137:TTTTTT:TTTT,NC_000005.10:157475137:TTTTTT:TTTTTTT
Gene:: NIPAL4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0.000071/1 (ALFA)
T=0.000064/9 (GnomAD)
T=0.000087/23 (TOPMED)
HGVS:: NC_000005.10:g.157475142_157475143del, NC_000005.10:g.157475143dup, NC_000005.9:g.156902150_156902151del, NC_000005.9:g.156902151dup, NG_016626.1:g.20124_20125del, NG_016626.1:g.20125dup

Select item 148838421320.

rs1488384213 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:157470036 (GRCh38)
5:156897044 (GRCh37)
Canonical SPDI:: NC_000005.10:157470035:T:C
Gene:: NIPAL4 (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_000005.10:g.157470036T>C, NC_000005.9:g.156897044T>C, NG_016626.1:g.15018T>C

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