SNP Links for Nucleotide (Select 953267326) - SNP

Links from Nucleotide

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915813051.

rs1491581305 has merged into rs374582085 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:3893943 (GRCh38)
20:3874590 (GRCh37)
Canonical SPDI:: NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3893931:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PANK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.1/4 (GENOME_DK)
-=0.141/66 (NorthernSweden)
T=0.473/2369 (1000Genomes)
HGVS:: NC_000020.11:g.3893943_3893950del, NC_000020.11:g.3893944_3893950del, NC_000020.11:g.3893945_3893950del, NC_000020.11:g.3893946_3893950del, NC_000020.11:g.3893947_3893950del, NC_000020.11:g.3893948_3893950del, NC_000020.11:g.3893949_3893950del, NC_000020.11:g.3893950del, NC_000020.11:g.3893950dup, NC_000020.11:g.3893949_3893950dup, NC_000020.11:g.3893948_3893950dup, NC_000020.11:g.3893947_3893950dup, NC_000020.11:g.3893946_3893950dup, NC_000020.11:g.3893945_3893950dup, NC_000020.11:g.3893944_3893950dup, NC_000020.11:g.3893942_3893950dup, NC_000020.11:g.3893941_3893950dup, NC_000020.11:g.3893940_3893950dup, NC_000020.11:g.3893939_3893950dup, NC_000020.11:g.3893937_3893950dup, NC_000020.11:g.3893936_3893950dup, NC_000020.11:g.3893935_3893950dup, NC_000020.11:g.3893950_3893951insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.3874590_3874597del, NC_000020.10:g.3874591_3874597del, NC_000020.10:g.3874592_3874597del, NC_000020.10:g.3874593_3874597del, NC_000020.10:g.3874594_3874597del, NC_000020.10:g.3874595_3874597del, NC_000020.10:g.3874596_3874597del, NC_000020.10:g.3874597del, NC_000020.10:g.3874597dup, NC_000020.10:g.3874596_3874597dup, NC_000020.10:g.3874595_3874597dup, NC_000020.10:g.3874594_3874597dup, NC_000020.10:g.3874593_3874597dup, NC_000020.10:g.3874592_3874597dup, NC_000020.10:g.3874591_3874597dup, NC_000020.10:g.3874589_3874597dup, NC_000020.10:g.3874588_3874597dup, NC_000020.10:g.3874587_3874597dup, NC_000020.10:g.3874586_3874597dup, NC_000020.10:g.3874584_3874597dup, NC_000020.10:g.3874583_3874597dup, NC_000020.10:g.3874582_3874597dup, NC_000020.10:g.3874597_3874598insTTTTTTTTTTTTTTTTTTTTTTTT, NG_008131.3:g.10105_10112del, NG_008131.3:g.10106_10112del, NG_008131.3:g.10107_10112del, NG_008131.3:g.10108_10112del, NG_008131.3:g.10109_10112del, NG_008131.3:g.10110_10112del, NG_008131.3:g.10111_10112del, NG_008131.3:g.10112del, NG_008131.3:g.10112dup, NG_008131.3:g.10111_10112dup, NG_008131.3:g.10110_10112dup, NG_008131.3:g.10109_10112dup, NG_008131.3:g.10108_10112dup, NG_008131.3:g.10107_10112dup, NG_008131.3:g.10106_10112dup, NG_008131.3:g.10104_10112dup, NG_008131.3:g.10103_10112dup, NG_008131.3:g.10102_10112dup, NG_008131.3:g.10101_10112dup, NG_008131.3:g.10099_10112dup, NG_008131.3:g.10098_10112dup, NG_008131.3:g.10097_10112dup, NG_008131.3:g.10112_10113insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915808422.

rs1491580842 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 20:3910308 (GRCh38)
20:3890955 (GRCh37)
Canonical SPDI:: NC_000020.11:3910306:TGT:T
Gene:: PANK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.3910308_3910309del, NC_000020.10:g.3890955_3890956del, NG_008131.3:g.26470_26471del

Select item 14915655373.

rs1491565537 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 20:3914366 (GRCh38)
20:3895013 (GRCh37)
Canonical SPDI:: NC_000020.11:3914362:GAGAG:GAG
Gene:: PANK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.3914364AG[1], NC_000020.10:g.3895011AG[1], NG_008131.3:g.30526AG[1]

Select item 14915636374.

rs1491563637 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 20:3913776 (GRCh38)
20:3894424 (GRCh37)
Canonical SPDI:: NC_000020.11:3913776:T:TGT
Gene:: PANK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000020.11:g.3913777_3913778insGT, NC_000020.10:g.3894424_3894425insGT, NG_008131.3:g.29939_29940insGT

Select item 14915044075.

rs1491504407 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:3908998 (GRCh38)
20:3889646 (GRCh37)
Canonical SPDI:: NC_000020.11:3908998:GGG:GGGG
Gene:: PANK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000038/10 (TOPMED)
G=0.009346/2 (Vietnamese)
HGVS:: NC_000020.11:g.3909001dup, NC_000020.10:g.3889648dup, NG_008131.3:g.25163dup

Select item 14914740686.

rs1491474068 has merged into rs57042549 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:3913797 (GRCh38)
20:3894444 (GRCh37)
Canonical SPDI:: NC_000020.11:3913790:TTTTTTTTTTTTTTTT:TTTTTT,NC_000020.11:3913790:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000020.11:3913790:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:3913790:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:3913790:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:3913790:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:3913790:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:3913790:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:3913790:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:3913790:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:3913790:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:3913790:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:3913790:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: PANK2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.3913797_3913806del, NC_000020.11:g.3913799_3913806del, NC_000020.11:g.3913801_3913806del, NC_000020.11:g.3913802_3913806del, NC_000020.11:g.3913803_3913806del, NC_000020.11:g.3913804_3913806del, NC_000020.11:g.3913805_3913806del, NC_000020.11:g.3913806del, NC_000020.11:g.3913806dup, NC_000020.11:g.3913805_3913806dup, NC_000020.11:g.3913804_3913806dup, NC_000020.11:g.3913803_3913806dup, NC_000020.11:g.3913802_3913806dup, NC_000020.10:g.3894444_3894453del, NC_000020.10:g.3894446_3894453del, NC_000020.10:g.3894448_3894453del, NC_000020.10:g.3894449_3894453del, NC_000020.10:g.3894450_3894453del, NC_000020.10:g.3894451_3894453del, NC_000020.10:g.3894452_3894453del, NC_000020.10:g.3894453del, NC_000020.10:g.3894453dup, NC_000020.10:g.3894452_3894453dup, NC_000020.10:g.3894451_3894453dup, NC_000020.10:g.3894450_3894453dup, NC_000020.10:g.3894449_3894453dup, NG_008131.3:g.29959_29968del, NG_008131.3:g.29961_29968del, NG_008131.3:g.29963_29968del, NG_008131.3:g.29964_29968del, NG_008131.3:g.29965_29968del, NG_008131.3:g.29966_29968del, NG_008131.3:g.29967_29968del, NG_008131.3:g.29968del, NG_008131.3:g.29968dup, NG_008131.3:g.29967_29968dup, NG_008131.3:g.29966_29968dup, NG_008131.3:g.29965_29968dup, NG_008131.3:g.29964_29968dup

Select item 14914586017.

rs1491458601 has merged into rs757866468 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 20:3885007 (GRCh38)
20:3865654 (GRCh37)
Canonical SPDI:: NC_000020.11:3884996:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:3884996:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:3884996:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:3884996:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:3884996:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:3884996:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:3884996:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:3884996:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:3884996:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.02843/17 (NorthernSweden)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000020.11:g.3885007_3885013del, NC_000020.11:g.3885009_3885013del, NC_000020.11:g.3885010_3885013del, NC_000020.11:g.3885011_3885013del, NC_000020.11:g.3885012_3885013del, NC_000020.11:g.3885013del, NC_000020.11:g.3885013dup, NC_000020.11:g.3885012_3885013dup, NC_000020.11:g.3885011_3885013dup, NC_000020.10:g.3865654_3865660del, NC_000020.10:g.3865656_3865660del, NC_000020.10:g.3865657_3865660del, NC_000020.10:g.3865658_3865660del, NC_000020.10:g.3865659_3865660del, NC_000020.10:g.3865660del, NC_000020.10:g.3865660dup, NC_000020.10:g.3865659_3865660dup, NC_000020.10:g.3865658_3865660dup, NG_008131.3:g.1169_1175del, NG_008131.3:g.1171_1175del, NG_008131.3:g.1172_1175del, NG_008131.3:g.1173_1175del, NG_008131.3:g.1174_1175del, NG_008131.3:g.1175del, NG_008131.3:g.1175dup, NG_008131.3:g.1174_1175dup, NG_008131.3:g.1173_1175dup

Select item 14914275648.

rs1491427564 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:3928463 (GRCh38)
20:3909111 (GRCh37)
Canonical SPDI:: NC_000020.11:3928463:AAAAAAA:AAAAAAAA
Gene:: RNF24 (Varview), PANK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.3928470dup, NC_000020.10:g.3909117dup, NG_008131.3:g.44632dup, NM_024960.6:c.*5176dup, NM_024960.5:c.*5176dup, NM_153638.4:c.*5176dup, NM_153638.3:c.*5176dup, NM_153640.4:c.*5176dup, NM_153640.3:c.*5176dup, NM_001324191.2:c.*5176dup, NM_001324191.1:c.*5176dup, NR_136715.2:n.6460dup, NR_136715.1:n.6913dup, NM_001324193.2:c.*5176dup, NM_001324193.1:c.*5176dup, NM_001386393.1:c.*5176dup, NM_007219.5:c.*5599dup, NM_007219.4:c.*5599dup, XM_011529146.3:c.*5599dup, NM_001134338.3:c.*5599dup, NM_001134338.2:c.*5599dup, NM_001134337.3:c.*5599dup, NM_001134337.2:c.*5599dup, XM_017027620.2:c.*5599dup, XM_017027621.2:c.*5599dup, NM_001321749.2:c.*5599dup, NM_001321749.1:c.*5599dup, XM_047439866.1:c.*5599dup, XM_047439865.1:c.*5599dup

Select item 14913636899.

rs1491363689 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:3889060 (GRCh38)
20:3869708 (GRCh37)
Canonical SPDI:: NC_000020.11:3889060::T
Gene:: PANK2 (Varview), PANK2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000009/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.3889060_3889061insT, NC_000020.10:g.3869707_3869708insT, NG_008131.3:g.5222_5223insT, NM_153638.4:c.-41_-40insT, NM_153638.3:c.-41_-40insT, NM_001324192.1:c.-41_-40insT, XR_001754478.3:n.113_114insA, XR_001754478.2:n.125_126insA, XR_001754478.1:n.125_126insA, NM_001324191.1:c.-1082_-1081insT, NR_136715.1:n.127_128insT

Select item 149131095410.

rs1491310954 has merged into rs1555788886 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT [Show Flanks]
Chromosome:: 20:3913790 (GRCh38)
20:3894437 (GRCh37)
Canonical SPDI:: NC_000020.11:3913775:ATATATATATATATAT:ATATATATATATAT,NC_000020.11:3913775:ATATATATATATATAT:ATATATATATATATATAT,NC_000020.11:3913775:ATATATATATATATAT:ATATATATATATATATATAT,NC_000020.11:3913775:ATATATATATATATAT:ATATATATATATATATATATAT,NC_000020.11:3913775:ATATATATATATATAT:ATATATATATATATATATATATAT,NC_000020.11:3913775:ATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000020.11:3913775:ATATATATATATATAT:ATATATATATATATATATATATATATAT
Gene:: PANK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATATAT=0./0 (ALFA)
-=0.0333/20 (NorthernSweden)
HGVS:: NC_000020.11:g.3913776AT[7], NC_000020.11:g.3913776AT[9], NC_000020.11:g.3913776AT[10], NC_000020.11:g.3913776AT[11], NC_000020.11:g.3913776AT[12], NC_000020.11:g.3913776AT[13], NC_000020.11:g.3913776AT[14], NC_000020.10:g.3894423AT[7], NC_000020.10:g.3894423AT[9], NC_000020.10:g.3894423AT[10], NC_000020.10:g.3894423AT[11], NC_000020.10:g.3894423AT[12], NC_000020.10:g.3894423AT[13], NC_000020.10:g.3894423AT[14], NG_008131.3:g.29938AT[7], NG_008131.3:g.29938AT[9], NG_008131.3:g.29938AT[10], NG_008131.3:g.29938AT[11], NG_008131.3:g.29938AT[12], NG_008131.3:g.29938AT[13], NG_008131.3:g.29938AT[14]

Select item 149130788011.

rs1491307880 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:3899236 (GRCh38)
20:3879884 (GRCh37)
Canonical SPDI:: NC_000020.11:3899236:T:TT
Gene:: PANK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000020.11:g.3899237dup, NC_000020.10:g.3879884dup, NG_008131.3:g.15399dup

Select item 149130785212.

rs1491307852 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 20:3911197 (GRCh38)
20:3891845 (GRCh37)
Canonical SPDI:: NC_000020.11:3911197:TGTGTGTGT:TGTGTGTGTGT
Gene:: PANK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
TG=0.000007/1 (GnomAD)
TG=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.3911199GT[5], NC_000020.10:g.3891846GT[5], NG_008131.3:g.27361GT[5]

Select item 149128842513.

rs1491288425 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 20:3908998 (GRCh38)
20:3889645 (GRCh37)
Canonical SPDI:: NC_000020.11:3908997:AG:
Gene:: PANK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.3908998_3908999del, NC_000020.10:g.3889645_3889646del, NG_008131.3:g.25160_25161del

Select item 149126596614.

rs1491265966 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:3892351 (GRCh38)
20:3872998 (GRCh37)
Canonical SPDI:: NC_000020.11:3892349:ACA:A
Gene:: PANK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
-=0.000125/17 (GnomAD)
HGVS:: NC_000020.11:g.3892351_3892352del, NC_000020.10:g.3872998_3872999del, NG_008131.3:g.8513_8514del

Select item 149125525915.

rs1491255259 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTTTGTTTTTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 149125135916.

rs1491251359 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:3912930 (GRCh38)
20:3893577 (GRCh37)
Canonical SPDI:: NC_000020.11:3912929:CA:
Gene:: PANK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
-=0.00011/3 (TOMMO)
HGVS:: NC_000020.11:g.3912930_3912931del, NC_000020.10:g.3893577_3893578del, NG_008131.3:g.29092_29093del

Select item 149123738717.

rs1491237387 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:3914363 (GRCh38)
20:3895011 (GRCh37)
Canonical SPDI:: NC_000020.11:3914363:A:AA
Gene:: PANK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.3914364dup, NC_000020.10:g.3895011dup, NG_008131.3:g.30526dup

Select item 149115474918.

rs1491154749 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:3884996 (GRCh38)
20:3865643 (GRCh37)
Canonical SPDI:: NC_000020.11:3884995:CT:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.3884996_3884997del, NC_000020.10:g.3865643_3865644del, NG_008131.3:g.1158_1159del

Select item 149102703219.

rs1491027032 has merged into rs11397944 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:3885232 (GRCh38)
20:3865879 (GRCh37)
Canonical SPDI:: NC_000020.11:3885219:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:3885219:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:3885219:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:3885219:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:3885219:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:3885219:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:3885219:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:3885219:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:3885219:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3885219:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3885219:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3885219:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3885219:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:3885219:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.375/3 (KOREAN)
HGVS:: NC_000020.11:g.3885232_3885237del, NC_000020.11:g.3885233_3885237del, NC_000020.11:g.3885234_3885237del, NC_000020.11:g.3885235_3885237del, NC_000020.11:g.3885236_3885237del, NC_000020.11:g.3885237del, NC_000020.11:g.3885237dup, NC_000020.11:g.3885236_3885237dup, NC_000020.11:g.3885235_3885237dup, NC_000020.11:g.3885234_3885237dup, NC_000020.11:g.3885232_3885237dup, NC_000020.11:g.3885231_3885237dup, NC_000020.11:g.3885229_3885237dup, NC_000020.11:g.3885228_3885237dup, NC_000020.10:g.3865879_3865884del, NC_000020.10:g.3865880_3865884del, NC_000020.10:g.3865881_3865884del, NC_000020.10:g.3865882_3865884del, NC_000020.10:g.3865883_3865884del, NC_000020.10:g.3865884del, NC_000020.10:g.3865884dup, NC_000020.10:g.3865883_3865884dup, NC_000020.10:g.3865882_3865884dup, NC_000020.10:g.3865881_3865884dup, NC_000020.10:g.3865879_3865884dup, NC_000020.10:g.3865878_3865884dup, NC_000020.10:g.3865876_3865884dup, NC_000020.10:g.3865875_3865884dup, NG_008131.3:g.1394_1399del, NG_008131.3:g.1395_1399del, NG_008131.3:g.1396_1399del, NG_008131.3:g.1397_1399del, NG_008131.3:g.1398_1399del, NG_008131.3:g.1399del, NG_008131.3:g.1399dup, NG_008131.3:g.1398_1399dup, NG_008131.3:g.1397_1399dup, NG_008131.3:g.1396_1399dup, NG_008131.3:g.1394_1399dup, NG_008131.3:g.1393_1399dup, NG_008131.3:g.1391_1399dup, NG_008131.3:g.1390_1399dup

Select item 149099043420.

rs1490990434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:3883951 (GRCh38)
20:3864598 (GRCh37)
Canonical SPDI:: NC_000020.11:3883950:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.3883951T>C, NC_000020.10:g.3864598T>C, NG_008131.3:g.113T>C

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Clinical Significance

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