SNP Links for Nucleotide (Select 572882922) - SNP

Select item 14888508701.

rs1488850870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:50473935 (GRCh38)
17:48551296 (GRCh37)
Canonical SPDI:: NC_000017.11:50473934:T:G
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50473935T>G, NC_000017.10:g.48551296T>G, NM_025149.6:c.1659T>G, NM_025149.5:c.1659T>G, NM_025149.4:c.1659T>G, XM_011525294.3:c.1641T>G, XM_011525294.2:c.1641T>G, XM_011525294.1:c.1641T>G, NM_001288968.2:c.1734T>G, NM_001288968.1:c.1734T>G, NM_001288969.2:c.1620T>G, NM_001288969.1:c.1620T>G, NM_001288972.2:c.1179T>G, NM_001288972.1:c.1179T>G, NM_001288970.2:c.1530T>G, NM_001288970.1:c.1530T>G, NM_001288971.2:c.1179T>G, NM_001288971.1:c.1179T>G, NR_110232.1:n.396T>G, NP_079425.3:p.Cys553Trp, XP_011523596.1:p.Cys547Trp, NP_001275897.1:p.Cys578Trp, NP_001275898.1:p.Cys540Trp, NP_001275901.1:p.Cys393Trp, NP_001275899.1:p.Cys510Trp, NP_001275900.1:p.Cys393Trp

Select item 14821929242.

rs1482192924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:50474700 (GRCh38)
17:48552061 (GRCh37)
Canonical SPDI:: NC_000017.11:50474699:C:G
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.50474700C>G, NC_000017.10:g.48552061C>G, NM_025149.6:c.*148C>G, NM_025149.5:c.*148C>G, NM_025149.4:c.*148C>G, XM_011525294.3:c.*148C>G, XM_011525294.2:c.*148C>G, XM_011525294.1:c.*148C>G, NM_001288968.2:c.*148C>G, NM_001288968.1:c.*148C>G, NM_001288969.2:c.*148C>G, NM_001288969.1:c.*148C>G, NM_001288972.2:c.*148C>G, NM_001288972.1:c.*148C>G, NM_001288970.2:c.*148C>G, NM_001288970.1:c.*148C>G, NM_001288971.2:c.*148C>G, NM_001288971.1:c.*148C>G, NR_110232.1:n.733C>G

Select item 14801605793.

rs1480160579 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAC>- [Show Flanks]
Chromosome:: 17:50473750 (GRCh38)
17:48551111 (GRCh37)
Canonical SPDI:: NC_000017.11:50473748:CTAC:C
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,inframe_deletion,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50473750_50473752del, NC_000017.10:g.48551111_48551113del, NM_025149.6:c.1561_1563del, NM_025149.5:c.1561_1563del, NM_025149.4:c.1561_1563del, XM_011525294.3:c.1543_1545del, XM_011525294.2:c.1543_1545del, XM_011525294.1:c.1543_1545del, NM_001288968.2:c.1636_1638del, NM_001288968.1:c.1636_1638del, NM_001288969.2:c.1522_1524del, NM_001288969.1:c.1522_1524del, NM_001288972.2:c.1081_1083del, NM_001288972.1:c.1081_1083del, NM_001288970.2:c.1432_1434del, NM_001288970.1:c.1432_1434del, NM_001288971.2:c.1081_1083del, NM_001288971.1:c.1081_1083del, NR_110232.1:n.298_300del, NP_079425.3:p.Tyr521del, XP_011523596.1:p.Tyr515del, NP_001275897.1:p.Tyr546del, NP_001275898.1:p.Tyr508del, NP_001275901.1:p.Tyr361del, NP_001275899.1:p.Tyr478del, NP_001275900.1:p.Tyr361del

Select item 14777086034.

rs1477708603 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50468334 (GRCh38)
17:48545695 (GRCh37)
Canonical SPDI:: NC_000017.11:50468333:A:G
Gene:: CHAD (Varview), ACSF2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50468334A>G, NC_000017.10:g.48545695A>G, XM_011524214.3:c.480T>C, XM_011524214.2:c.723T>C, XM_011524214.1:c.723T>C, NM_001267.3:c.480T>C, NM_001267.2:c.480T>C, XM_047435173.1:c.480T>C, NR_110232.1:n.6A>G

Select item 14717876415.

rs1471787641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50471122 (GRCh38)
17:48548483 (GRCh37)
Canonical SPDI:: NC_000017.11:50471121:T:C
Gene:: ACSF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50471122T>C, NC_000017.10:g.48548483T>C, NM_025149.6:c.1310T>C, NM_025149.5:c.1310T>C, NM_025149.4:c.1310T>C, XM_006722110.5:c.1310T>C, XM_006722110.4:c.1310T>C, XM_006722110.3:c.1310T>C, XM_006722110.2:c.1310T>C, XM_006722110.1:c.1310T>C, XR_934563.4:n.1428T>C, XR_934563.3:n.1396T>C, XR_934563.2:n.1428T>C, XR_934563.1:n.1428T>C, XR_934566.4:n.1262T>C, XR_934566.3:n.1230T>C, XR_934566.2:n.1262T>C, XR_934566.1:n.1262T>C, XM_011525294.3:c.1292T>C, XM_011525294.2:c.1292T>C, XM_011525294.1:c.1292T>C, NM_001288968.2:c.1385T>C, NM_001288968.1:c.1385T>C, NM_001288969.2:c.1271T>C, NM_001288969.1:c.1271T>C, NM_001288972.2:c.830T>C, NM_001288972.1:c.830T>C, NM_001288970.2:c.1181T>C, NM_001288970.1:c.1181T>C, NM_001288971.2:c.830T>C, NM_001288971.1:c.830T>C, XR_007065473.1:n.1428T>C, XR_007065474.1:n.1262T>C, NR_110232.1:n.199T>C, NP_079425.3:p.Met437Thr, XP_006722173.1:p.Met437Thr, XP_011523596.1:p.Met431Thr, NP_001275897.1:p.Met462Thr, NP_001275898.1:p.Met424Thr, NP_001275901.1:p.Met277Thr, NP_001275899.1:p.Met394Thr, NP_001275900.1:p.Met277Thr

Select item 14668440896.

rs1466844089 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:50473782 (GRCh38)
17:48551143 (GRCh37)
Canonical SPDI:: NC_000017.11:50473781:A:C,NC_000017.11:50473781:A:T
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (KOREAN)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50473782A>C, NC_000017.11:g.50473782A>T, NC_000017.10:g.48551143A>C, NC_000017.10:g.48551143A>T, NM_025149.6:c.1593A>C, NM_025149.6:c.1593A>T, NM_025149.5:c.1593A>C, NM_025149.5:c.1593A>T, NM_025149.4:c.1593A>C, NM_025149.4:c.1593A>T, XM_011525294.3:c.1575A>C, XM_011525294.3:c.1575A>T, XM_011525294.2:c.1575A>C, XM_011525294.2:c.1575A>T, XM_011525294.1:c.1575A>C, XM_011525294.1:c.1575A>T, NM_001288968.2:c.1668A>C, NM_001288968.2:c.1668A>T, NM_001288968.1:c.1668A>C, NM_001288968.1:c.1668A>T, NM_001288969.2:c.1554A>C, NM_001288969.2:c.1554A>T, NM_001288969.1:c.1554A>C, NM_001288969.1:c.1554A>T, NM_001288972.2:c.1113A>C, NM_001288972.2:c.1113A>T, NM_001288972.1:c.1113A>C, NM_001288972.1:c.1113A>T, NM_001288970.2:c.1464A>C, NM_001288970.2:c.1464A>T, NM_001288970.1:c.1464A>C, NM_001288970.1:c.1464A>T, NM_001288971.2:c.1113A>C, NM_001288971.2:c.1113A>T, NM_001288971.1:c.1113A>C, NM_001288971.1:c.1113A>T, NR_110232.1:n.330A>C, NR_110232.1:n.330A>T

Select item 14662925157.

rs1466292515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50474713 (GRCh38)
17:48552074 (GRCh37)
Canonical SPDI:: NC_000017.11:50474712:G:A
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.50474713G>A, NC_000017.10:g.48552074G>A, NM_025149.6:c.*161G>A, NM_025149.5:c.*161G>A, NM_025149.4:c.*161G>A, XM_011525294.3:c.*161G>A, XM_011525294.2:c.*161G>A, XM_011525294.1:c.*161G>A, NM_001288968.2:c.*161G>A, NM_001288968.1:c.*161G>A, NM_001288969.2:c.*161G>A, NM_001288969.1:c.*161G>A, NM_001288972.2:c.*161G>A, NM_001288972.1:c.*161G>A, NM_001288970.2:c.*161G>A, NM_001288970.1:c.*161G>A, NM_001288971.2:c.*161G>A, NM_001288971.1:c.*161G>A, NR_110232.1:n.746G>A

Select item 14606336938.

rs1460633693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:50474504 (GRCh38)
17:48551865 (GRCh37)
Canonical SPDI:: NC_000017.11:50474503:C:A
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50474504C>A, NC_000017.10:g.48551865C>A, NM_025149.6:c.1800C>A, NM_025149.5:c.1800C>A, NM_025149.4:c.1800C>A, XM_011525294.3:c.1782C>A, XM_011525294.2:c.1782C>A, XM_011525294.1:c.1782C>A, NM_001288968.2:c.1875C>A, NM_001288968.1:c.1875C>A, NM_001288969.2:c.1761C>A, NM_001288969.1:c.1761C>A, NM_001288972.2:c.1320C>A, NM_001288972.1:c.1320C>A, NM_001288970.2:c.1671C>A, NM_001288970.1:c.1671C>A, NM_001288971.2:c.1320C>A, NM_001288971.1:c.1320C>A, NR_110232.1:n.537C>A

Select item 14559821219.

rs1455982121 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50471063 (GRCh38)
17:48548424 (GRCh37)
Canonical SPDI:: NC_000017.11:50471062:A:G
Gene:: ACSF2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50471063A>G, NC_000017.10:g.48548424A>G, NM_025149.6:c.1251A>G, NM_025149.5:c.1251A>G, NM_025149.4:c.1251A>G, XM_006722110.5:c.1251A>G, XM_006722110.4:c.1251A>G, XM_006722110.3:c.1251A>G, XM_006722110.2:c.1251A>G, XM_006722110.1:c.1251A>G, XR_934563.4:n.1369A>G, XR_934563.3:n.1337A>G, XR_934563.2:n.1369A>G, XR_934563.1:n.1369A>G, XR_934566.4:n.1203A>G, XR_934566.3:n.1171A>G, XR_934566.2:n.1203A>G, XR_934566.1:n.1203A>G, XM_011525294.3:c.1233A>G, XM_011525294.2:c.1233A>G, XM_011525294.1:c.1233A>G, NM_001288968.2:c.1326A>G, NM_001288968.1:c.1326A>G, NM_001288969.2:c.1212A>G, NM_001288969.1:c.1212A>G, NM_001288972.2:c.771A>G, NM_001288972.1:c.771A>G, NM_001288970.2:c.1122A>G, NM_001288970.1:c.1122A>G, NM_001288971.2:c.771A>G, NM_001288971.1:c.771A>G, XR_007065473.1:n.1369A>G, XR_007065474.1:n.1203A>G, NR_110232.1:n.140A>G

Select item 143689690910.

rs1436896909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50474670 (GRCh38)
17:48552031 (GRCh37)
Canonical SPDI:: NC_000017.11:50474669:C:T
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.50474670C>T, NC_000017.10:g.48552031C>T, NM_025149.6:c.*118C>T, NM_025149.5:c.*118C>T, NM_025149.4:c.*118C>T, XM_011525294.3:c.*118C>T, XM_011525294.2:c.*118C>T, XM_011525294.1:c.*118C>T, NM_001288968.2:c.*118C>T, NM_001288968.1:c.*118C>T, NM_001288969.2:c.*118C>T, NM_001288969.1:c.*118C>T, NM_001288972.2:c.*118C>T, NM_001288972.1:c.*118C>T, NM_001288970.2:c.*118C>T, NM_001288970.1:c.*118C>T, NM_001288971.2:c.*118C>T, NM_001288971.1:c.*118C>T, NR_110232.1:n.703C>T

Select item 143660761311.

rs1436607613 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:50473898 (GRCh38)
17:48551259 (GRCh37)
Canonical SPDI:: NC_000017.11:50473897:T:A,NC_000017.11:50473897:T:C
Gene:: ACSF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000035/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50473898T>A, NC_000017.11:g.50473898T>C, NC_000017.10:g.48551259T>A, NC_000017.10:g.48551259T>C, NM_025149.6:c.1622T>A, NM_025149.6:c.1622T>C, NM_025149.5:c.1622T>A, NM_025149.5:c.1622T>C, NM_025149.4:c.1622T>A, NM_025149.4:c.1622T>C, XM_011525294.3:c.1604T>A, XM_011525294.3:c.1604T>C, XM_011525294.2:c.1604T>A, XM_011525294.2:c.1604T>C, XM_011525294.1:c.1604T>A, XM_011525294.1:c.1604T>C, NM_001288968.2:c.1697T>A, NM_001288968.2:c.1697T>C, NM_001288968.1:c.1697T>A, NM_001288968.1:c.1697T>C, NM_001288969.2:c.1583T>A, NM_001288969.2:c.1583T>C, NM_001288969.1:c.1583T>A, NM_001288969.1:c.1583T>C, NM_001288972.2:c.1142T>A, NM_001288972.2:c.1142T>C, NM_001288972.1:c.1142T>A, NM_001288972.1:c.1142T>C, NM_001288970.2:c.1493T>A, NM_001288970.2:c.1493T>C, NM_001288970.1:c.1493T>A, NM_001288970.1:c.1493T>C, NM_001288971.2:c.1142T>A, NM_001288971.2:c.1142T>C, NM_001288971.1:c.1142T>A, NM_001288971.1:c.1142T>C, NR_110232.1:n.359T>A, NR_110232.1:n.359T>C, NP_079425.3:p.Val541Glu, NP_079425.3:p.Val541Ala, XP_011523596.1:p.Val535Glu, XP_011523596.1:p.Val535Ala, NP_001275897.1:p.Val566Glu, NP_001275897.1:p.Val566Ala, NP_001275898.1:p.Val528Glu, NP_001275898.1:p.Val528Ala, NP_001275901.1:p.Val381Glu, NP_001275901.1:p.Val381Ala, NP_001275899.1:p.Val498Glu, NP_001275899.1:p.Val498Ala, NP_001275900.1:p.Val381Glu, NP_001275900.1:p.Val381Ala

Select item 143507443112.

rs1435074431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50468354 (GRCh38)
17:48545715 (GRCh37)
Canonical SPDI:: NC_000017.11:50468353:G:A
Gene:: CHAD (Varview), ACSF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50468354G>A, NC_000017.10:g.48545715G>A, XM_011524214.3:c.460C>T, XM_011524214.2:c.703C>T, XM_011524214.1:c.703C>T, NM_001267.3:c.460C>T, NM_001267.2:c.460C>T, XM_047435173.1:c.460C>T, NR_110232.1:n.26G>A, XP_011522516.2:p.Leu154Phe, NP_001258.2:p.Leu154Phe, XP_047291129.1:p.Leu154Phe

Select item 143196887313.

rs1431968873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:50474552 (GRCh38)
17:48551913 (GRCh37)
Canonical SPDI:: NC_000017.11:50474551:A:T
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_lost,terminator_codon_variant,non_coding_transcript_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_000017.11:g.50474552A>T, NC_000017.10:g.48551913A>T, NM_025149.6:c.1848A>T, NM_025149.5:c.1848A>T, NM_025149.4:c.1848A>T, XM_011525294.3:c.1830A>T, XM_011525294.2:c.1830A>T, XM_011525294.1:c.1830A>T, NM_001288968.2:c.1923A>T, NM_001288968.1:c.1923A>T, NM_001288969.2:c.1809A>T, NM_001288969.1:c.1809A>T, NM_001288972.2:c.1368A>T, NM_001288972.1:c.1368A>T, NM_001288970.2:c.1719A>T, NM_001288970.1:c.1719A>T, NM_001288971.2:c.1368A>T, NM_001288971.1:c.1368A>T, NR_110232.1:n.585A>T, NP_079425.3:p.Ter616Cys, XP_011523596.1:p.Ter610Cys, NP_001275897.1:p.Ter641Cys, NP_001275898.1:p.Ter603Cys, NP_001275901.1:p.Ter456Cys, NP_001275899.1:p.Ter573Cys, NP_001275900.1:p.Ter456Cys

Select item 143171312114.

rs1431713121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50473767 (GRCh38)
17:48551128 (GRCh37)
Canonical SPDI:: NC_000017.11:50473766:G:A
Gene:: ACSF2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50473767G>A, NC_000017.10:g.48551128G>A, NM_025149.6:c.1578G>A, NM_025149.5:c.1578G>A, NM_025149.4:c.1578G>A, XM_011525294.3:c.1560G>A, XM_011525294.2:c.1560G>A, XM_011525294.1:c.1560G>A, NM_001288968.2:c.1653G>A, NM_001288968.1:c.1653G>A, NM_001288969.2:c.1539G>A, NM_001288969.1:c.1539G>A, NM_001288972.2:c.1098G>A, NM_001288972.1:c.1098G>A, NM_001288970.2:c.1449G>A, NM_001288970.1:c.1449G>A, NM_001288971.2:c.1098G>A, NM_001288971.1:c.1098G>A, NR_110232.1:n.315G>A

Select item 142711566815.

rs1427115668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50474775 (GRCh38)
17:48552136 (GRCh37)
Canonical SPDI:: NC_000017.11:50474774:C:T
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50474775C>T, NC_000017.10:g.48552136C>T, NM_025149.6:c.*223C>T, NM_025149.5:c.*223C>T, NM_025149.4:c.*223C>T, XM_011525294.3:c.*223C>T, XM_011525294.2:c.*223C>T, XM_011525294.1:c.*223C>T, NM_001288968.2:c.*223C>T, NM_001288968.1:c.*223C>T, NM_001288969.2:c.*223C>T, NM_001288969.1:c.*223C>T, NM_001288972.2:c.*223C>T, NM_001288972.1:c.*223C>T, NM_001288970.2:c.*223C>T, NM_001288970.1:c.*223C>T, NM_001288971.2:c.*223C>T, NM_001288971.1:c.*223C>T, NR_110232.1:n.808C>T

Select item 142621092716.

rs1426210927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:50473708 (GRCh38)
17:48551069 (GRCh37)
Canonical SPDI:: NC_000017.11:50473707:G:T
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50473708G>T, NC_000017.10:g.48551069G>T, NM_025149.6:c.1519G>T, NM_025149.5:c.1519G>T, NM_025149.4:c.1519G>T, XM_011525294.3:c.1501G>T, XM_011525294.2:c.1501G>T, XM_011525294.1:c.1501G>T, NM_001288968.2:c.1594G>T, NM_001288968.1:c.1594G>T, NM_001288969.2:c.1480G>T, NM_001288969.1:c.1480G>T, NM_001288972.2:c.1039G>T, NM_001288972.1:c.1039G>T, NM_001288970.2:c.1390G>T, NM_001288970.1:c.1390G>T, NM_001288971.2:c.1039G>T, NM_001288971.1:c.1039G>T, NR_110232.1:n.256G>T, NP_079425.3:p.Gly507Cys, XP_011523596.1:p.Gly501Cys, NP_001275897.1:p.Gly532Cys, NP_001275898.1:p.Gly494Cys, NP_001275901.1:p.Gly347Cys, NP_001275899.1:p.Gly464Cys, NP_001275900.1:p.Gly347Cys

Select item 142263476817.

rs1422634768 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50474564 (GRCh38)
17:48551925 (GRCh37)
Canonical SPDI:: NC_000017.11:50474563:G:A
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50474564G>A, NC_000017.10:g.48551925G>A, NM_025149.6:c.*12G>A, NM_025149.5:c.*12G>A, NM_025149.4:c.*12G>A, XM_011525294.3:c.*12G>A, XM_011525294.2:c.*12G>A, XM_011525294.1:c.*12G>A, NM_001288968.2:c.*12G>A, NM_001288968.1:c.*12G>A, NM_001288969.2:c.*12G>A, NM_001288969.1:c.*12G>A, NM_001288972.2:c.*12G>A, NM_001288972.1:c.*12G>A, NM_001288970.2:c.*12G>A, NM_001288970.1:c.*12G>A, NM_001288971.2:c.*12G>A, NM_001288971.1:c.*12G>A, NR_110232.1:n.597G>A

Select item 142092718418.

rs1420927184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:50473719 (GRCh38)
17:48551080 (GRCh37)
Canonical SPDI:: NC_000017.11:50473718:G:C,NC_000017.11:50473718:G:T
Gene:: ACSF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50473719G>C, NC_000017.11:g.50473719G>T, NC_000017.10:g.48551080G>C, NC_000017.10:g.48551080G>T, NM_025149.6:c.1530G>C, NM_025149.6:c.1530G>T, NM_025149.5:c.1530G>C, NM_025149.5:c.1530G>T, NM_025149.4:c.1530G>C, NM_025149.4:c.1530G>T, XM_011525294.3:c.1512G>C, XM_011525294.3:c.1512G>T, XM_011525294.2:c.1512G>C, XM_011525294.2:c.1512G>T, XM_011525294.1:c.1512G>C, XM_011525294.1:c.1512G>T, NM_001288968.2:c.1605G>C, NM_001288968.2:c.1605G>T, NM_001288968.1:c.1605G>C, NM_001288968.1:c.1605G>T, NM_001288969.2:c.1491G>C, NM_001288969.2:c.1491G>T, NM_001288969.1:c.1491G>C, NM_001288969.1:c.1491G>T, NM_001288972.2:c.1050G>C, NM_001288972.2:c.1050G>T, NM_001288972.1:c.1050G>C, NM_001288972.1:c.1050G>T, NM_001288970.2:c.1401G>C, NM_001288970.2:c.1401G>T, NM_001288970.1:c.1401G>C, NM_001288970.1:c.1401G>T, NM_001288971.2:c.1050G>C, NM_001288971.2:c.1050G>T, NM_001288971.1:c.1050G>C, NM_001288971.1:c.1050G>T, NR_110232.1:n.267G>C, NR_110232.1:n.267G>T, NP_079425.3:p.Lys510Asn, NP_079425.3:p.Lys510Asn, XP_011523596.1:p.Lys504Asn, XP_011523596.1:p.Lys504Asn, NP_001275897.1:p.Lys535Asn, NP_001275897.1:p.Lys535Asn, NP_001275898.1:p.Lys497Asn, NP_001275898.1:p.Lys497Asn, NP_001275901.1:p.Lys350Asn, NP_001275901.1:p.Lys350Asn, NP_001275899.1:p.Lys467Asn, NP_001275899.1:p.Lys467Asn, NP_001275900.1:p.Lys350Asn, NP_001275900.1:p.Lys350Asn

Select item 141444613519.

rs1414446135 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50471045 (GRCh38)
17:48548406 (GRCh37)
Canonical SPDI:: NC_000017.11:50471044:A:G
Gene:: ACSF2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50471045A>G, NC_000017.10:g.48548406A>G, NM_025149.6:c.1233A>G, NM_025149.5:c.1233A>G, NM_025149.4:c.1233A>G, XM_006722110.5:c.1233A>G, XM_006722110.4:c.1233A>G, XM_006722110.3:c.1233A>G, XM_006722110.2:c.1233A>G, XM_006722110.1:c.1233A>G, XR_934563.4:n.1351A>G, XR_934563.3:n.1319A>G, XR_934563.2:n.1351A>G, XR_934563.1:n.1351A>G, XR_934566.4:n.1185A>G, XR_934566.3:n.1153A>G, XR_934566.2:n.1185A>G, XR_934566.1:n.1185A>G, XM_011525294.3:c.1215A>G, XM_011525294.2:c.1215A>G, XM_011525294.1:c.1215A>G, NM_001288968.2:c.1308A>G, NM_001288968.1:c.1308A>G, NM_001288969.2:c.1194A>G, NM_001288969.1:c.1194A>G, NM_001288972.2:c.753A>G, NM_001288972.1:c.753A>G, NM_001288970.2:c.1104A>G, NM_001288970.1:c.1104A>G, NM_001288971.2:c.753A>G, NM_001288971.1:c.753A>G, XR_007065473.1:n.1351A>G, XR_007065474.1:n.1185A>G, NR_110232.1:n.122A>G

Select item 141143427620.

rs1411434276 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50471078 (GRCh38)
17:48548439 (GRCh37)
Canonical SPDI:: NC_000017.11:50471077:T:C
Gene:: ACSF2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.50471078T>C, NC_000017.10:g.48548439T>C, NM_025149.6:c.1266T>C, NM_025149.5:c.1266T>C, NM_025149.4:c.1266T>C, XM_006722110.5:c.1266T>C, XM_006722110.4:c.1266T>C, XM_006722110.3:c.1266T>C, XM_006722110.2:c.1266T>C, XM_006722110.1:c.1266T>C, XR_934563.4:n.1384T>C, XR_934563.3:n.1352T>C, XR_934563.2:n.1384T>C, XR_934563.1:n.1384T>C, XR_934566.4:n.1218T>C, XR_934566.3:n.1186T>C, XR_934566.2:n.1218T>C, XR_934566.1:n.1218T>C, XM_011525294.3:c.1248T>C, XM_011525294.2:c.1248T>C, XM_011525294.1:c.1248T>C, NM_001288968.2:c.1341T>C, NM_001288968.1:c.1341T>C, NM_001288969.2:c.1227T>C, NM_001288969.1:c.1227T>C, NM_001288972.2:c.786T>C, NM_001288972.1:c.786T>C, NM_001288970.2:c.1137T>C, NM_001288970.1:c.1137T>C, NM_001288971.2:c.786T>C, NM_001288971.1:c.786T>C, XR_007065473.1:n.1384T>C, XR_007065474.1:n.1218T>C, NR_110232.1:n.155T>C

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Result Filters

Validation Status

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Global MAF

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Additional filters

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Items: 1 to 20 of 249

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