SNP Links for Nucleotide (Select 224586810) - SNP

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Links from Nucleotide

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Select item 14904325431.

rs1490432543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:72377982 (GRCh38)
15:72670323 (GRCh37)
Canonical SPDI:: NC_000015.10:72377981:G:A,NC_000015.10:72377981:G:C
Gene:: HEXA (Varview), HEXA-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.72377982G>A, NC_000015.10:g.72377982G>C, NC_000015.9:g.72670323G>A, NC_000015.9:g.72670323G>C, NG_009017.2:g.3198C>T, NG_009017.2:g.3198C>G, NR_027262.1:n.1870G>A, NR_027262.1:n.1870G>C

Select item 14899469482.

rs1489946948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:72377073 (GRCh38)
15:72669414 (GRCh37)
Canonical SPDI:: NC_000015.10:72377072:A:G
Gene:: HEXA (Varview), HEXA-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.72377073A>G, NC_000015.9:g.72669414A>G, NG_009017.2:g.4107T>C, NR_027262.1:n.961A>G, NM_025005.1:c.*89A>G, NM_001037223.1:c.*89A>G

Select item 14885932913.

rs1488593291 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:72376822 (GRCh38)
15:72669163 (GRCh37)
Canonical SPDI:: NC_000015.10:72376821:G:T
Gene:: HEXA (Varview), HEXA-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.72376822G>T, NC_000015.9:g.72669163G>T, NG_009017.2:g.4358C>A, NR_027262.1:n.710G>T, NM_025005.1:c.258G>T, NM_001037223.1:c.258G>T

Select item 14884655924.

rs1488465592 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:72378165 (GRCh38)
15:72670506 (GRCh37)
Canonical SPDI:: NC_000015.10:72378164:G:A
Gene:: HEXA-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.72378165G>A, NC_000015.9:g.72670506G>A, NG_009017.2:g.3015C>T, NR_027262.1:n.2053G>A

Select item 14884477865.

rs1488447786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:72376475 (GRCh38)
15:72668816 (GRCh37)
Canonical SPDI:: NC_000015.10:72376474:A:G
Gene:: HEXA (Varview), HEXA-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_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_000015.10:g.72376475A>G, NC_000015.9:g.72668816A>G, NG_009017.2:g.4705T>C, NR_027262.1:n.363A>G, NM_025005.1:c.-90A>G, NM_001037223.1:c.-90A>G

Select item 14881800216.

rs1488180021 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATAAT>- [Show Flanks]
Chromosome:: 15:72378555 (GRCh38)
15:72670896 (GRCh37)
Canonical SPDI:: NC_000015.10:72378551:AATAATAAT:AAT
Gene:: HEXA-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.72378552AAT[1], NC_000015.9:g.72670893AAT[1], NG_009017.2:g.2620ATT[1], NR_027262.1:n.2440AAT[1]

Select item 14881294507.

rs1488129450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:72377454 (GRCh38)
15:72669795 (GRCh37)
Canonical SPDI:: NC_000015.10:72377453:A:C,NC_000015.10:72377453:A:G
Gene:: HEXA (Varview), HEXA-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.000071/1 (TOMMO)
HGVS:: NC_000015.10:g.72377454A>C, NC_000015.10:g.72377454A>G, NC_000015.9:g.72669795A>C, NC_000015.9:g.72669795A>G, NG_009017.2:g.3726T>G, NG_009017.2:g.3726T>C, NR_027262.1:n.1342A>C, NR_027262.1:n.1342A>G, NM_025005.1:c.*470A>C, NM_025005.1:c.*470A>G, NM_001037223.1:c.*470A>C, NM_001037223.1:c.*470A>G

Select item 14879406818.

rs1487940681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:72377865 (GRCh38)
15:72670206 (GRCh37)
Canonical SPDI:: NC_000015.10:72377864:A:G
Gene:: HEXA (Varview), HEXA-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.72377865A>G, NC_000015.9:g.72670206A>G, NG_009017.2:g.3315T>C, NR_027262.1:n.1753A>G, NM_025005.1:c.*881A>G, NM_001037223.1:c.*881A>G

Select item 14864645499.

rs1486464549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:72378750 (GRCh38)
15:72671091 (GRCh37)
Canonical SPDI:: NC_000015.10:72378749:T:A
Gene:: HEXA-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.72378750T>A, NC_000015.9:g.72671091T>A, NG_009017.2:g.2430A>T, NR_027262.1:n.2638T>A

Select item 148484764610.

rs1484847646 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:72376134 (GRCh38)
15:72668475 (GRCh37)
Canonical SPDI:: NC_000015.10:72376133:T:G
Gene:: HEXA (Varview), HEXA-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.72376134T>G, NC_000015.9:g.72668475T>G, NG_009017.2:g.5046A>C, NM_000520.5:c.-162A>C, NM_001318825.1:c.-162A>C, NR_134869.1:n.340A>C, NM_000520.4:c.-162A>C, NR_027262.1:n.22T>G

Select item 148362388411.

rs1483623884 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:72376565 (GRCh38)
15:72668906 (GRCh37)
Canonical SPDI:: NC_000015.10:72376564:A:G
Gene:: HEXA (Varview), HEXA-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.00006/16 (TOPMED)
HGVS:: NC_000015.10:g.72376565A>G, NC_000015.9:g.72668906A>G, NG_009017.2:g.4615T>C, NR_027262.1:n.453A>G, NM_025005.1:c.1A>G, NM_001037223.1:c.1A>G

Select item 148296808312.

rs1482968083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:72378779 (GRCh38)
15:72671120 (GRCh37)
Canonical SPDI:: NC_000015.10:72378778:T:G
Gene:: HEXA-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.72378779T>G, NC_000015.9:g.72671120T>G, NG_009017.2:g.2401A>C, NR_027262.1:n.2667T>G

Select item 147966242913.

rs1479662429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:72376813 (GRCh38)
15:72669154 (GRCh37)
Canonical SPDI:: NC_000015.10:72376812:A:G
Gene:: HEXA (Varview), HEXA-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.72376813A>G, NC_000015.9:g.72669154A>G, NG_009017.2:g.4367T>C, NR_027262.1:n.701A>G, NM_025005.1:c.249A>G, NM_001037223.1:c.249A>G

Select item 147957285514.

rs1479572855 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 15:72376254 (GRCh38)
15:72668595 (GRCh37)
Canonical SPDI:: NC_000015.10:72376253:T:C,NC_000015.10:72376253:T:G
Gene:: HEXA (Varview), HEXA-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
C=0.000223/1 (Estonian)
G=0.003289/6 (Korea1K)
HGVS:: NC_000015.10:g.72376254T>C, NC_000015.10:g.72376254T>G, NC_000015.9:g.72668595T>C, NC_000015.9:g.72668595T>G, NG_009017.2:g.4926A>G, NG_009017.2:g.4926A>C, NM_000520.5:c.-282A>G, NM_000520.5:c.-282A>C, NM_001318825.1:c.-282A>G, NM_001318825.1:c.-282A>C, NR_134869.1:n.220A>G, NR_134869.1:n.220A>C, NR_027262.1:n.142T>C, NR_027262.1:n.142T>G

Select item 147911671115.

rs1479116711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:72376167 (GRCh38)
15:72668508 (GRCh37)
Canonical SPDI:: NC_000015.10:72376166:G:A
Gene:: HEXA (Varview), HEXA-AS1 (Varview)
Functional Consequence:: non_coding_transcript_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)
HGVS:: NC_000015.10:g.72376167G>A, NC_000015.9:g.72668508G>A, NG_009017.2:g.5013C>T, NM_000520.5:c.-195C>T, NM_001318825.1:c.-195C>T, NR_134869.1:n.307C>T, NM_000520.4:c.-195C>T, NR_027262.1:n.55G>A

Select item 147910184316.

rs1479101843 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:72376116 (GRCh38)
15:72668457 (GRCh37)
Canonical SPDI:: NC_000015.10:72376115:T:A
Gene:: HEXA (Varview), HEXA-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000015.10:g.72376116T>A, NC_000015.9:g.72668457T>A, NG_009017.2:g.5064A>T, NM_000520.5:c.-144A>T, NM_001318825.1:c.-144A>T, NR_134869.1:n.358A>T, NM_000520.4:c.-144A>T, NR_027262.1:n.4T>A

Select item 147898428117.

rs1478984281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:72376596 (GRCh38)
15:72668937 (GRCh37)
Canonical SPDI:: NC_000015.10:72376595:A:G
Gene:: HEXA (Varview), HEXA-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_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_000015.10:g.72376596A>G, NC_000015.9:g.72668937A>G, NG_009017.2:g.4584T>C, NR_027262.1:n.484A>G, NM_025005.1:c.32A>G, NM_001037223.1:c.32A>G

Select item 147743283218.

rs1477432832 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGT>- [Show Flanks]
Chromosome:: 15:72376461 (GRCh38)
15:72668802 (GRCh37)
Canonical SPDI:: NC_000015.10:72376458:GTCGT:GT
Gene:: HEXA (Varview), HEXA-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.72376461_72376463del, NC_000015.9:g.72668802_72668804del, NG_009017.2:g.4719_4721del, NM_000520.5:c.-489_-487del, NM_001318825.1:c.-489_-487del, NR_134869.1:n.13_15del, NR_027262.1:n.349_351del, NM_025005.1:c.-104_-102del, NM_001037223.1:c.-104_-102del

Select item 147623339219.

rs1476233392 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAG [Show Flanks]
Chromosome:: 15:72378216 (GRCh38)
15:72670558 (GRCh37)
Canonical SPDI:: NC_000015.10:72378216:GAAG:GAAGAAG
Gene:: HEXA-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGAAG=0./0 (ALFA)
GAA=0.000011/3 (TOPMED)
GAA=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.72378218_72378220dup, NC_000015.9:g.72670559_72670561dup, NG_009017.2:g.2961_2963dup, NR_027262.1:n.2106_2108dup

Select item 147176379320.

rs1471763793 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:72377404 (GRCh38)
15:72669745 (GRCh37)
Canonical SPDI:: NC_000015.10:72377403:A:C
Gene:: HEXA (Varview), HEXA-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.72377404A>C, NC_000015.9:g.72669745A>C, NG_009017.2:g.3776T>G, NR_027262.1:n.1292A>C, NM_025005.1:c.*420A>C, NM_001037223.1:c.*420A>C

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