SNP Links for Gene (Select 4758) - SNP

Select item 14901187151.

rs1490118715 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31860583 (GRCh38)
6:31828360 (GRCh37)
Canonical SPDI:: NC_000006.12:31860582:A:G
Gene:: NEU1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31860583A>G, NC_000006.11:g.31828360A>G, NG_008201.1:g.7350T>C, NM_000434.4:c.654T>C, NM_000434.3:c.654T>C, NT_113891.3:g.3338001A>G, NT_113891.2:g.3338107A>G, NT_167249.2:g.3161810A>G, NT_167249.1:g.3161108A>G, NT_167248.2:g.3116555A>G, NT_167248.1:g.3122151A>G, NT_167247.2:g.3202653A>G, NT_167247.1:g.3208238A>G, NT_167244.2:g.3193199A>G, NT_167244.1:g.3143115A>G, NT_167245.2:g.3108361A>G, NT_167245.1:g.3113946A>G, NT_167246.2:g.3165799A>G, NT_167246.1:g.3171419A>G

Select item 14887435292.

rs1488743529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:31863905 (GRCh38)
6:31831682 (GRCh37)
Canonical SPDI:: NC_000006.12:31863904:G:T
Gene:: NEU1 (Varview), SLC44A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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_000006.12:g.31863905G>T, NC_000006.11:g.31831682G>T, NG_023058.1:g.20142C>A, NG_008201.1:g.4028C>A, NT_113891.3:g.3341323G>T, NT_113891.2:g.3341429G>T, NT_167244.2:g.3196521G>T, NT_167244.1:g.3146437G>T, NT_167245.2:g.3111683G>T, NT_167245.1:g.3117268G>T, NT_167248.2:g.3119877G>T, NT_167248.1:g.3125473G>T, NT_167249.2:g.3165132G>T, NT_167249.1:g.3164430G>T, NT_167247.2:g.3205975G>T, NT_167247.1:g.3211560G>T

Select item 14886986333.

rs1488698633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:31863237 (GRCh38)
6:31831014 (GRCh37)
Canonical SPDI:: NC_000006.12:31863236:T:G
Gene:: NEU1 (Varview), SLC44A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.31863237T>G, NC_000006.11:g.31831014T>G, NG_023058.1:g.20810A>C, NM_025257.3:c.*390A>C, NM_025257.2:c.*390A>C, NM_001178045.2:c.*390A>C, NM_001178045.1:c.*390A>C, NM_001178044.2:c.*390A>C, NM_001178044.1:c.*390A>C, NG_008201.1:g.4696A>C, NT_113891.3:g.3340655T>G, NT_113891.2:g.3340761T>G, NT_167244.2:g.3195853T>G, NT_167244.1:g.3145769T>G, NT_167245.2:g.3111015T>G, NT_167245.1:g.3116600T>G, NT_167248.2:g.3119209T>G, NT_167248.1:g.3124805T>G, NT_167249.2:g.3164464T>G, NT_167249.1:g.3163762T>G, NT_167247.2:g.3205307T>G, NT_167247.1:g.3210892T>G, NT_167246.2:g.3168453T>G, NT_167246.1:g.3174073T>G, NM_032794.1:c.*390A>C

Select item 14886933834.

rs1488693383 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATA>- [Show Flanks]
Chromosome:: 6:31860770 (GRCh38)
6:31828547 (GRCh37)
Canonical SPDI:: NC_000006.12:31860766:ATAAATA:ATA
Gene:: NEU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.31860770_31860773del, NC_000006.11:g.31828547_31828550del, NG_008201.1:g.7163_7166del, NT_113891.3:g.3338188_3338191del, NT_113891.2:g.3338294_3338297del, NT_167249.2:g.3161997_3162000del, NT_167249.1:g.3161295_3161298del, NT_167248.2:g.3116742_3116745del, NT_167248.1:g.3122338_3122341del, NT_167247.2:g.3202840_3202843del, NT_167247.1:g.3208425_3208428del, NT_167244.2:g.3193386_3193389del, NT_167244.1:g.3143302_3143305del, NT_167245.2:g.3108548_3108551del, NT_167245.1:g.3114133_3114136del, NT_167246.2:g.3165986_3165989del, NT_167246.1:g.3171606_3171609del

Select item 14883871465.

rs1488387146 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31863757 (GRCh38)
6:31831534 (GRCh37)
Canonical SPDI:: NC_000006.12:31863756:C:T
Gene:: NEU1 (Varview), SLC44A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31863757C>T, NC_000006.11:g.31831534C>T, NG_023058.1:g.20290G>A, NG_008201.1:g.4176G>A, NT_113891.3:g.3341175C>T, NT_113891.2:g.3341281C>T, NT_167244.2:g.3196373C>T, NT_167244.1:g.3146289C>T, NT_167245.2:g.3111535C>T, NT_167245.1:g.3117120C>T, NT_167248.2:g.3119729C>T, NT_167248.1:g.3125325C>T, NT_167249.2:g.3164984C>T, NT_167249.1:g.3164282C>T, NT_167247.2:g.3205827C>T, NT_167247.1:g.3211412C>T

Select item 14877143566.

rs1487714356 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:31861994 (GRCh38)
6:31829771 (GRCh37)
Canonical SPDI:: NC_000006.12:31861993:T:A
Gene:: NEU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31861994T>A, NC_000006.11:g.31829771T>A, NG_023058.1:g.22053A>T, NG_008201.1:g.5939A>T, NT_113891.3:g.3339412T>A, NT_113891.2:g.3339518T>A, NT_167244.2:g.3194610T>A, NT_167244.1:g.3144526T>A, NT_167245.2:g.3109772T>A, NT_167245.1:g.3115357T>A, NT_167248.2:g.3117966T>A, NT_167248.1:g.3123562T>A, NT_167249.2:g.3163221T>A, NT_167249.1:g.3162519T>A, NT_167247.2:g.3204064T>A, NT_167247.1:g.3209649T>A, NT_167246.2:g.3167210T>A, NT_167246.1:g.3172830T>A

Select item 14872283437.

rs1487228343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:31862254 (GRCh38)
6:31830031 (GRCh37)
Canonical SPDI:: NC_000006.12:31862253:G:T
Gene:: NEU1 (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_000006.12:g.31862254G>T, NC_000006.11:g.31830031G>T, NG_023058.1:g.21793C>A, NG_008201.1:g.5679C>A, NT_113891.3:g.3339672G>T, NT_113891.2:g.3339778G>T, NT_167244.2:g.3194870G>T, NT_167244.1:g.3144786G>T, NT_167245.2:g.3110032G>T, NT_167245.1:g.3115617G>T, NT_167248.2:g.3118226G>T, NT_167248.1:g.3123822G>T, NT_167249.2:g.3163481G>T, NT_167249.1:g.3162779G>T, NT_167247.2:g.3204324G>T, NT_167247.1:g.3209909G>T, NT_167246.2:g.3167470G>T, NT_167246.1:g.3173090G>T

Select item 14871660518.

rs1487166051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:31862669 (GRCh38)
6:31830446 (GRCh37)
Canonical SPDI:: NC_000006.12:31862668:C:G
Gene:: NEU1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31862669C>G, NC_000006.11:g.31830446C>G, NG_023058.1:g.21378G>C, NG_008201.1:g.5264G>C, NM_000434.4:c.108G>C, NM_000434.3:c.108G>C, NT_113891.3:g.3340087C>G, NT_113891.2:g.3340193C>G, NT_167244.2:g.3195285C>G, NT_167244.1:g.3145201C>G, NT_167245.2:g.3110447C>G, NT_167245.1:g.3116032C>G, NT_167248.2:g.3118641C>G, NT_167248.1:g.3124237C>G, NT_167249.2:g.3163896C>G, NT_167249.1:g.3163194C>G, NT_167247.2:g.3204739C>G, NT_167247.1:g.3210324C>G, NT_167246.2:g.3167885C>G, NT_167246.1:g.3173505C>G

Select item 14871066239.

rs1487106623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:31862854 (GRCh38)
6:31830631 (GRCh37)
Canonical SPDI:: NC_000006.12:31862853:G:A,NC_000006.12:31862853:G:T
Gene:: NEU1 (Varview), SLC44A4 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000006.12:g.31862854G>A, NC_000006.12:g.31862854G>T, NC_000006.11:g.31830631G>A, NC_000006.11:g.31830631G>T, NG_023058.1:g.21193C>T, NG_023058.1:g.21193C>A, NG_008201.1:g.5079C>T, NG_008201.1:g.5079C>A, NT_113891.3:g.3340272G>A, NT_113891.3:g.3340272G>T, NT_113891.2:g.3340378G>A, NT_113891.2:g.3340378G>T, NT_167244.2:g.3195470G>A, NT_167244.2:g.3195470G>T, NT_167244.1:g.3145386G>A, NT_167244.1:g.3145386G>T, NT_167245.2:g.3110632G>A, NT_167245.2:g.3110632G>T, NT_167245.1:g.3116217G>A, NT_167245.1:g.3116217G>T, NT_167248.2:g.3118826G>A, NT_167248.2:g.3118826G>T, NT_167248.1:g.3124422G>A, NT_167248.1:g.3124422G>T, NT_167249.2:g.3164081G>A, NT_167249.2:g.3164081G>T, NT_167249.1:g.3163379G>A, NT_167249.1:g.3163379G>T, NT_167247.2:g.3204924G>A, NT_167247.2:g.3204924G>T, NT_167247.1:g.3210509G>A, NT_167247.1:g.3210509G>T, NT_167246.2:g.3168070G>A, NT_167246.2:g.3168070G>T, NT_167246.1:g.3173690G>A, NT_167246.1:g.3173690G>T, NM_000434.3:c.-78C>T, NM_000434.3:c.-78C>A

Select item 148706668810.

rs1487066688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31864630 (GRCh38)
6:31832407 (GRCh37)
Canonical SPDI:: NC_000006.12:31864629:G:C
Gene:: NEU1 (Varview), SLC44A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31864630G>C, NC_000006.11:g.31832407G>C, NG_023058.1:g.19417C>G, NG_008201.1:g.3303C>G, NT_113891.3:g.3342048G>C, NT_113891.2:g.3342154G>C, NT_167244.2:g.3197246G>C, NT_167244.1:g.3147162G>C, NT_167245.2:g.3112408G>C, NT_167245.1:g.3117993G>C, NT_167248.2:g.3120603G>C, NT_167248.1:g.3126199G>C, NT_167249.2:g.3165857G>C, NT_167249.1:g.3165155G>C, NT_167247.2:g.3206700G>C, NT_167247.1:g.3212285G>C

Select item 148698013911.

rs1486980139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:31860041 (GRCh38)
6:31827818 (GRCh37)
Canonical SPDI:: NC_000006.12:31860040:C:A,NC_000006.12:31860040:C:G,NC_000006.12:31860040:C:T
Gene:: NEU1 (Varview)
Functional Consequence:: splice_donor_variant
Clinical significance:: pathogenic,likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.31860041C>A, NC_000006.12:g.31860041C>G, NC_000006.12:g.31860041C>T, NC_000006.11:g.31827818C>A, NC_000006.11:g.31827818C>G, NC_000006.11:g.31827818C>T, NG_008201.1:g.7892G>T, NG_008201.1:g.7892G>C, NG_008201.1:g.7892G>A, NT_113891.3:g.3337459C>A, NT_113891.3:g.3337459C>G, NT_113891.3:g.3337459C>T, NT_113891.2:g.3337565C>A, NT_113891.2:g.3337565C>G, NT_113891.2:g.3337565C>T, NT_167249.2:g.3161268C>A, NT_167249.2:g.3161268C>G, NT_167249.2:g.3161268C>T, NT_167249.1:g.3160566C>A, NT_167249.1:g.3160566C>G, NT_167249.1:g.3160566C>T, NT_167248.2:g.3116013C>A, NT_167248.2:g.3116013C>G, NT_167248.2:g.3116013C>T, NT_167248.1:g.3121609C>A, NT_167248.1:g.3121609C>G, NT_167248.1:g.3121609C>T, NT_167247.2:g.3202111C>A, NT_167247.2:g.3202111C>G, NT_167247.2:g.3202111C>T, NT_167247.1:g.3207696C>A, NT_167247.1:g.3207696C>G, NT_167247.1:g.3207696C>T, NT_167244.2:g.3192657C>A, NT_167244.2:g.3192657C>G, NT_167244.2:g.3192657C>T, NT_167244.1:g.3142573C>A, NT_167244.1:g.3142573C>G, NT_167244.1:g.3142573C>T, NT_167245.2:g.3107819C>A, NT_167245.2:g.3107819C>G, NT_167245.2:g.3107819C>T, NT_167245.1:g.3113404C>A, NT_167245.1:g.3113404C>G, NT_167245.1:g.3113404C>T, NT_167246.2:g.3165257C>A, NT_167246.2:g.3165257C>G, NT_167246.2:g.3165257C>T, NT_167246.1:g.3170877C>A, NT_167246.1:g.3170877C>G, NT_167246.1:g.3170877C>T

Select item 148693909512.

rs1486939095 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:31860787 (GRCh38)
6:31828564 (GRCh37)
Canonical SPDI:: NC_000006.12:31860786:AA:
Gene:: NEU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31860787_31860788del, NC_000006.11:g.31828564_31828565del, NG_008201.1:g.7145_7146del, NT_113891.3:g.3338205_3338206del, NT_113891.2:g.3338311_3338312del, NT_167249.2:g.3162014_3162015del, NT_167249.1:g.3161312_3161313del, NT_167248.2:g.3116759_3116760del, NT_167248.1:g.3122355_3122356del, NT_167247.2:g.3202857_3202858del, NT_167247.1:g.3208442_3208443del, NT_167244.2:g.3193403_3193404del, NT_167244.1:g.3143319_3143320del, NT_167245.2:g.3108565_3108566del, NT_167245.1:g.3114150_3114151del, NT_167246.2:g.3166003_3166004del, NT_167246.1:g.3171623_3171624del

Select item 148573593213.

rs1485735932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31864248 (GRCh38)
6:31832025 (GRCh37)
Canonical SPDI:: NC_000006.12:31864247:G:A
Gene:: NEU1 (Varview), SLC44A4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31864248G>A, NC_000006.11:g.31832025G>A, NG_023058.1:g.19799C>T, NG_008201.1:g.3685C>T, NT_113891.3:g.3341666G>A, NT_113891.2:g.3341772G>A, NT_167244.2:g.3196864G>A, NT_167244.1:g.3146780G>A, NT_167245.2:g.3112026G>A, NT_167245.1:g.3117611G>A, NT_167248.2:g.3120220G>A, NT_167248.1:g.3125816G>A, NT_167249.2:g.3165475G>A, NT_167249.1:g.3164773G>A, NT_167247.2:g.3206318G>A, NT_167247.1:g.3211903G>A

Select item 148521818214.

rs1485218182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:31861131 (GRCh38)
6:31828908 (GRCh37)
Canonical SPDI:: NC_000006.12:31861130:G:T
Gene:: NEU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.31861131G>T, NC_000006.11:g.31828908G>T, NG_008201.1:g.6802C>A, NT_113891.3:g.3338549G>T, NT_113891.2:g.3338655G>T, NT_167249.2:g.3162358G>T, NT_167249.1:g.3161656G>T, NT_167248.2:g.3117103G>T, NT_167248.1:g.3122699G>T, NT_167247.2:g.3203201G>T, NT_167247.1:g.3208786G>T, NT_167244.2:g.3193747G>T, NT_167244.1:g.3143663G>T, NT_167245.2:g.3108909G>T, NT_167245.1:g.3114494G>T, NT_167246.2:g.3166347G>T, NT_167246.1:g.3171967G>T

Select item 148479317115.

rs1484793171 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31860967 (GRCh38)
6:31828744 (GRCh37)
Canonical SPDI:: NC_000006.12:31860966:T:C
Gene:: NEU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.31860967T>C, NC_000006.11:g.31828744T>C, NG_008201.1:g.6966A>G, NT_113891.3:g.3338385T>C, NT_113891.2:g.3338491T>C, NT_167249.2:g.3162194T>C, NT_167249.1:g.3161492T>C, NT_167248.2:g.3116939T>C, NT_167248.1:g.3122535T>C, NT_167247.2:g.3203037T>C, NT_167247.1:g.3208622T>C, NT_167244.2:g.3193583T>C, NT_167244.1:g.3143499T>C, NT_167245.2:g.3108745T>C, NT_167245.1:g.3114330T>C, NT_167246.2:g.3166183T>C, NT_167246.1:g.3171803T>C

Select item 148428044216.

rs1484280442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31860427 (GRCh38)
6:31828204 (GRCh37)
Canonical SPDI:: NC_000006.12:31860426:T:C
Gene:: NEU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31860427T>C, NC_000006.11:g.31828204T>C, NG_008201.1:g.7506A>G, NT_113891.3:g.3337845T>C, NT_113891.2:g.3337951T>C, NT_167249.2:g.3161654T>C, NT_167249.1:g.3160952T>C, NT_167248.2:g.3116399T>C, NT_167248.1:g.3121995T>C, NT_167247.2:g.3202497T>C, NT_167247.1:g.3208082T>C, NT_167244.2:g.3193043T>C, NT_167244.1:g.3142959T>C, NT_167245.2:g.3108205T>C, NT_167245.1:g.3113790T>C, NT_167246.2:g.3165643T>C, NT_167246.1:g.3171263T>C

Select item 148422923617.

rs1484229236 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:31862234 (GRCh38)
6:31830012 (GRCh37)
Canonical SPDI:: NC_000006.12:31862234:GGGGG:GGGGGG
Gene:: NEU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31862239dup, NC_000006.11:g.31830016dup, NG_023058.1:g.21812dup, NG_008201.1:g.5698dup, NT_113891.3:g.3339657dup, NT_113891.2:g.3339763dup, NT_167244.2:g.3194855dup, NT_167244.1:g.3144771dup, NT_167245.2:g.3110017dup, NT_167245.1:g.3115602dup, NT_167248.2:g.3118211dup, NT_167248.1:g.3123807dup, NT_167249.2:g.3163466dup, NT_167249.1:g.3162764dup, NT_167247.2:g.3204309dup, NT_167247.1:g.3209894dup, NT_167246.2:g.3167455dup, NT_167246.1:g.3173075dup

Select item 148323053818.

rs1483230538 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31858769 (GRCh38)
6:31826546 (GRCh37)
Canonical SPDI:: NC_000006.12:31858768:C:T
Gene:: NEU1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.31858769C>T, NC_000006.11:g.31826546C>T, NG_008201.1:g.9164G>A, NM_000434.4:c.*950G>A, NT_113891.3:g.3336187C>T, NT_113891.2:g.3336293C>T, NT_167249.2:g.3159996C>T, NT_167249.1:g.3159294C>T, NT_167248.2:g.3114741C>T, NT_167248.1:g.3120337C>T, NT_167247.2:g.3200839C>T, NT_167247.1:g.3206424C>T, NT_167244.2:g.3191385C>T, NT_167244.1:g.3141301C>T, NT_167245.2:g.3106547C>T, NT_167245.1:g.3112132C>T, NT_167246.2:g.3163985C>T, NT_167246.1:g.3169605C>T

Select item 148225121119.

rs1482251211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:31860736 (GRCh38)
6:31828513 (GRCh37)
Canonical SPDI:: NC_000006.12:31860735:C:A
Gene:: NEU1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31860736C>A, NC_000006.11:g.31828513C>A, NG_008201.1:g.7197G>T, NT_113891.3:g.3338154C>A, NT_113891.2:g.3338260C>A, NT_167249.2:g.3161963C>A, NT_167249.1:g.3161261C>A, NT_167248.2:g.3116708C>A, NT_167248.1:g.3122304C>A, NT_167247.2:g.3202806C>A, NT_167247.1:g.3208391C>A, NT_167244.2:g.3193352C>A, NT_167244.1:g.3143268C>A, NT_167245.2:g.3108514C>A, NT_167245.1:g.3114099C>A, NT_167246.2:g.3165952C>A, NT_167246.1:g.3171572C>A

Select item 148218046720.

rs1482180467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31862782 (GRCh38)
6:31830559 (GRCh37)
Canonical SPDI:: NC_000006.12:31862781:C:T
Gene:: NEU1 (Varview), SLC44A4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000006.12:g.31862782C>T, NC_000006.11:g.31830559C>T, NG_023058.1:g.21265G>A, NG_008201.1:g.5151G>A, NM_000434.4:c.-6G>A, NM_000434.3:c.-6G>A, NT_113891.3:g.3340200C>T, NT_113891.2:g.3340306C>T, NT_167244.2:g.3195398C>T, NT_167244.1:g.3145314C>T, NT_167245.2:g.3110560C>T, NT_167245.1:g.3116145C>T, NT_167248.2:g.3118754C>T, NT_167248.1:g.3124350C>T, NT_167249.2:g.3164009C>T, NT_167249.1:g.3163307C>T, NT_167247.2:g.3204852C>T, NT_167247.1:g.3210437C>T, NT_167246.2:g.3167998C>T, NT_167246.1:g.3173618C>T

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