SNP Links for Nucleotide (Select 218749808) - SNP - NCBI

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Links from Nucleotide

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Select item 14885019761.

rs1488501976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7587601 (GRCh38)
17:7490919 (GRCh37)
Canonical SPDI:: NC_000017.11:7587600:G:A
Gene:: MPDU1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7587601G>A, NC_000017.10:g.7490919G>A, NG_009204.1:g.8955G>A, NM_004870.4:c.*50G>A, NM_004870.3:c.*50G>A, NR_024603.1:n.1005G>A, NM_001330073.1:c.*157G>A, XM_006721598.4:c.*157G>A, XM_006721598.3:c.*157G>A, XM_006721598.2:c.*157G>A, XM_006721598.1:c.*157G>A, XM_006721597.3:c.675G>A, XM_006721597.2:c.675G>A, XM_006721597.1:c.675G>A

Select item 14884344082.

rs1488434408 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7588110 (GRCh38)
17:7491428 (GRCh37)
Canonical SPDI:: NC_000017.11:7588109:A:G
Gene:: SOX15 (Varview), MPDU1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.7588110A>G, NC_000017.10:g.7491428A>G, NG_009204.1:g.9464A>G, NM_004870.4:c.*559A>G, NM_004870.3:c.*559A>G, NR_024603.1:n.1514A>G, NM_001330073.1:c.*666A>G, XM_006721598.4:c.*666A>G, XM_006721598.3:c.*666A>G, XM_006721598.2:c.*666A>G, XM_006721598.1:c.*666A>G, XM_006721597.3:c.*401A>G, XM_006721597.2:c.*401A>G, XM_006721597.1:c.*401A>G

Select item 14880484843.

rs1488048484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7587958 (GRCh38)
17:7491276 (GRCh37)
Canonical SPDI:: NC_000017.11:7587957:G:A
Gene:: SOX15 (Varview), MPDU1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
HGVS:: NC_000017.11:g.7587958G>A, NC_000017.10:g.7491276G>A, NG_009204.1:g.9312G>A, NM_004870.4:c.*407G>A, NM_004870.3:c.*407G>A, NR_024603.1:n.1362G>A, NM_001330073.1:c.*514G>A, XM_006721598.4:c.*514G>A, XM_006721598.3:c.*514G>A, XM_006721598.2:c.*514G>A, XM_006721598.1:c.*514G>A, XM_006721597.3:c.*249G>A, XM_006721597.2:c.*249G>A, XM_006721597.1:c.*249G>A

Select item 14876799624.

rs1487679962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:7583682 (GRCh38)
17:7487000 (GRCh37)
Canonical SPDI:: NC_000017.11:7583681:G:A,NC_000017.11:7583681:G:C
Gene:: MPDU1 (Varview), LOC100996842 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7583682G>A, NC_000017.11:g.7583682G>C, NC_000017.10:g.7487000G>A, NC_000017.10:g.7487000G>C, NG_009204.1:g.5036G>A, NG_009204.1:g.5036G>C, NR_024603.1:n.36G>A, NR_024603.1:n.36G>C, NM_001330073.1:c.-181G>A, NM_001330073.1:c.-181G>C, XM_006721598.4:c.-181G>A, XM_006721598.4:c.-181G>C, NM_004870.3:c.-181G>A, NM_004870.3:c.-181G>C, XM_006721597.3:c.-181G>A, XM_006721597.3:c.-181G>C

Select item 14876479375.

rs1487647937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:7587893 (GRCh38)
17:7491211 (GRCh37)
Canonical SPDI:: NC_000017.11:7587892:C:G,NC_000017.11:7587892:C:T
Gene:: SOX15 (Varview), MPDU1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000017.11:g.7587893C>G, NC_000017.11:g.7587893C>T, NC_000017.10:g.7491211C>G, NC_000017.10:g.7491211C>T, NG_009204.1:g.9247C>G, NG_009204.1:g.9247C>T, NM_004870.4:c.*342C>G, NM_004870.4:c.*342C>T, NM_004870.3:c.*342C>G, NM_004870.3:c.*342C>T, NR_024603.1:n.1297C>G, NR_024603.1:n.1297C>T, NM_001330073.1:c.*449C>G, NM_001330073.1:c.*449C>T, XM_006721598.4:c.*449C>G, XM_006721598.4:c.*449C>T, XM_006721598.3:c.*449C>G, XM_006721598.3:c.*449C>T, XM_006721598.2:c.*449C>G, XM_006721598.2:c.*449C>T, XM_006721598.1:c.*449C>G, XM_006721598.1:c.*449C>T, XM_006721597.3:c.*184C>G, XM_006721597.3:c.*184C>T, XM_006721597.2:c.*184C>G, XM_006721597.2:c.*184C>T, XM_006721597.1:c.*184C>G, XM_006721597.1:c.*184C>T

Select item 14863408286.

rs1486340828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:7586902 (GRCh38)
17:7490220 (GRCh37)
Canonical SPDI:: NC_000017.11:7586901:T:A
Gene:: MPDU1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_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_000017.11:g.7586902T>A, NC_000017.10:g.7490220T>A, NG_009204.1:g.8256T>A, NM_004870.4:c.392T>A, NM_004870.3:c.392T>A, NR_024603.1:n.603T>A, XM_006721598.4:c.392T>A, XM_006721598.3:c.392T>A, XM_006721598.2:c.392T>A, XM_006721598.1:c.392T>A, NP_004861.2:p.Val131Asp, XP_006721661.1:p.Val131Asp

Select item 14860649627.

rs1486064962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7585752 (GRCh38)
17:7489070 (GRCh37)
Canonical SPDI:: NC_000017.11:7585751:C:T
Gene:: MPDU1 (Varview), LOC100996842 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7585752C>T, NC_000017.10:g.7489070C>T, NG_009204.1:g.7106C>T, NM_004870.4:c.124C>T, NM_004870.3:c.124C>T, NR_024603.1:n.340C>T, NM_001330073.1:c.124C>T, XM_006721598.4:c.124C>T, XM_006721598.3:c.124C>T, XM_006721598.2:c.124C>T, XM_006721598.1:c.124C>T, XM_006721597.3:c.124C>T, XM_006721597.2:c.124C>T, XM_006721597.1:c.124C>T, NP_004861.2:p.Leu42Phe, NP_001317002.1:p.Leu42Phe, XP_006721661.1:p.Leu42Phe, XP_006721660.1:p.Leu42Phe

Select item 14838768448.

rs1483876844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:7587800 (GRCh38)
17:7491118 (GRCh37)
Canonical SPDI:: NC_000017.11:7587799:T:G
Gene:: SOX15 (Varview), MPDU1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.7587800T>G, NC_000017.10:g.7491118T>G, NG_009204.1:g.9154T>G, NM_004870.4:c.*249T>G, NM_004870.3:c.*249T>G, NR_024603.1:n.1204T>G, NM_001330073.1:c.*356T>G, XM_006721598.4:c.*356T>G, XM_006721598.3:c.*356T>G, XM_006721598.2:c.*356T>G, XM_006721598.1:c.*356T>G, XM_006721597.3:c.*91T>G, XM_006721597.2:c.*91T>G, XM_006721597.1:c.*91T>G

Select item 14837653499.

rs1483765349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7586986 (GRCh38)
17:7490304 (GRCh37)
Canonical SPDI:: NC_000017.11:7586985:C:T
Gene:: MPDU1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000017.11:g.7586986C>T, NC_000017.10:g.7490304C>T, NG_009204.1:g.8340C>T, NM_004870.4:c.476C>T, NM_004870.3:c.476C>T, NR_024603.1:n.687C>T, XM_006721598.4:c.476C>T, XM_006721598.3:c.476C>T, XM_006721598.2:c.476C>T, XM_006721598.1:c.476C>T, NP_004861.2:p.Ala159Val, XP_006721661.1:p.Ala159Val

Select item 148311636910.

rs1483116369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7587716 (GRCh38)
17:7491034 (GRCh37)
Canonical SPDI:: NC_000017.11:7587715:C:T
Gene:: SOX15 (Varview), MPDU1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
HGVS:: NC_000017.11:g.7587716C>T, NC_000017.10:g.7491034C>T, NG_009204.1:g.9070C>T, NM_004870.4:c.*165C>T, NM_004870.3:c.*165C>T, NR_024603.1:n.1120C>T, NM_001330073.1:c.*272C>T, XM_006721598.4:c.*272C>T, XM_006721598.3:c.*272C>T, XM_006721598.2:c.*272C>T, XM_006721598.1:c.*272C>T, XM_006721597.3:c.*7C>T, XM_006721597.2:c.*7C>T, XM_006721597.1:c.*7C>T

Select item 148253466811.

rs1482534668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:7587992 (GRCh38)
17:7491310 (GRCh37)
Canonical SPDI:: NC_000017.11:7587991:C:A
Gene:: SOX15 (Varview), MPDU1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_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.7587992C>A, NC_000017.10:g.7491310C>A, NG_009204.1:g.9346C>A, NM_004870.4:c.*441C>A, NM_004870.3:c.*441C>A, NR_024603.1:n.1396C>A, NM_001330073.1:c.*548C>A, XM_006721598.4:c.*548C>A, XM_006721598.3:c.*548C>A, XM_006721598.2:c.*548C>A, XM_006721598.1:c.*548C>A, XM_006721597.3:c.*283C>A, XM_006721597.2:c.*283C>A, XM_006721597.1:c.*283C>A

Select item 148253332812.

rs1482533328 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7585754 (GRCh38)
17:7489072 (GRCh37)
Canonical SPDI:: NC_000017.11:7585753:C:T
Gene:: MPDU1 (Varview), LOC100996842 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7585754C>T, NC_000017.10:g.7489072C>T, NG_009204.1:g.7108C>T, NM_004870.4:c.126C>T, NM_004870.3:c.126C>T, NR_024603.1:n.342C>T, NM_001330073.1:c.126C>T, XM_006721598.4:c.126C>T, XM_006721598.3:c.126C>T, XM_006721598.2:c.126C>T, XM_006721598.1:c.126C>T, XM_006721597.3:c.126C>T, XM_006721597.2:c.126C>T, XM_006721597.1:c.126C>T

Select item 148179683313.

rs1481796833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:7585761 (GRCh38)
17:7489079 (GRCh37)
Canonical SPDI:: NC_000017.11:7585760:G:C,NC_000017.11:7585760:G:T
Gene:: MPDU1 (Varview), LOC100996842 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7585761G>C, NC_000017.11:g.7585761G>T, NC_000017.10:g.7489079G>C, NC_000017.10:g.7489079G>T, NG_009204.1:g.7115G>C, NG_009204.1:g.7115G>T, NM_004870.4:c.133G>C, NM_004870.4:c.133G>T, NM_004870.3:c.133G>C, NM_004870.3:c.133G>T, NR_024603.1:n.349G>C, NR_024603.1:n.349G>T, NM_001330073.1:c.133G>C, NM_001330073.1:c.133G>T, XM_006721598.4:c.133G>C, XM_006721598.4:c.133G>T, XM_006721598.3:c.133G>C, XM_006721598.3:c.133G>T, XM_006721598.2:c.133G>C, XM_006721598.2:c.133G>T, XM_006721598.1:c.133G>C, XM_006721598.1:c.133G>T, XM_006721597.3:c.133G>C, XM_006721597.3:c.133G>T, XM_006721597.2:c.133G>C, XM_006721597.2:c.133G>T, XM_006721597.1:c.133G>C, XM_006721597.1:c.133G>T, NP_004861.2:p.Gly45Arg, NP_004861.2:p.Gly45Cys, NP_001317002.1:p.Gly45Arg, NP_001317002.1:p.Gly45Cys, XP_006721661.1:p.Gly45Arg, XP_006721661.1:p.Gly45Cys, XP_006721660.1:p.Gly45Arg, XP_006721660.1:p.Gly45Cys

Select item 147920088014.

rs1479200880 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7588212 (GRCh38)
17:7491530 (GRCh37)
Canonical SPDI:: NC_000017.11:7588211:A:G
Gene:: SOX15 (Varview), MPDU1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7588212A>G, NC_000017.10:g.7491530A>G, NG_009204.1:g.9566A>G, NM_004870.4:c.*661A>G, NM_004870.3:c.*661A>G, NR_024603.1:n.1616A>G, NM_001330073.1:c.*768A>G, XM_006721598.4:c.*768A>G, XM_006721597.3:c.*503A>G, XM_006721597.1:c.*503A>G, NM_006942.2:c.*166T>C, NM_006942.1:c.*166T>C

Select item 147829238815.

rs1478292388 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:7587980 (GRCh38)
17:7491298 (GRCh37)
Canonical SPDI:: NC_000017.11:7587979:C:A,NC_000017.11:7587979:C:T
Gene:: SOX15 (Varview), MPDU1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00016/1 (1000Genomes)
HGVS:: NC_000017.11:g.7587980C>A, NC_000017.11:g.7587980C>T, NC_000017.10:g.7491298C>A, NC_000017.10:g.7491298C>T, NG_009204.1:g.9334C>A, NG_009204.1:g.9334C>T, NM_004870.4:c.*429C>A, NM_004870.4:c.*429C>T, NM_004870.3:c.*429C>A, NM_004870.3:c.*429C>T, NR_024603.1:n.1384C>A, NR_024603.1:n.1384C>T, NM_001330073.1:c.*536C>A, NM_001330073.1:c.*536C>T, XM_006721598.4:c.*536C>A, XM_006721598.4:c.*536C>T, XM_006721598.3:c.*536C>A, XM_006721598.3:c.*536C>T, XM_006721598.2:c.*536C>A, XM_006721598.2:c.*536C>T, XM_006721598.1:c.*536C>A, XM_006721598.1:c.*536C>T, XM_006721597.3:c.*271C>A, XM_006721597.3:c.*271C>T, XM_006721597.2:c.*271C>A, XM_006721597.2:c.*271C>T, XM_006721597.1:c.*271C>A, XM_006721597.1:c.*271C>T

Select item 147812398516.

rs1478123985 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCTG [Show Flanks]
Chromosome:: 17:7587966 (GRCh38)
17:7491285 (GRCh37)
Canonical SPDI:: NC_000017.11:7587966:TGGCTG:TGGCTGGCTG
Gene:: SOX15 (Varview), MPDU1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGGCTGGCTG=0./0 (ALFA)
TGGC=0.000004/1 (TOPMED)
TGGC=0.000007/1 (GnomAD)
TGGC=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7587969_7587972dup, NC_000017.10:g.7491287_7491290dup, NG_009204.1:g.9323_9326dup, NM_004870.4:c.*418_*421dup, NM_004870.3:c.*418_*421dup, NR_024603.1:n.1373_1376dup, NM_001330073.1:c.*525_*528dup, XM_006721598.4:c.*525_*528dup, XM_006721598.3:c.*525_*528dup, XM_006721598.2:c.*525_*528dup, XM_006721598.1:c.*525_*528dup, XM_006721597.3:c.*260_*263dup, XM_006721597.2:c.*260_*263dup, XM_006721597.1:c.*260_*263dup

Select item 147801291617.

rs1478012916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:7587177 (GRCh38)
17:7490495 (GRCh37)
Canonical SPDI:: NC_000017.11:7587176:C:G
Gene:: MPDU1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7587177C>G, NC_000017.10:g.7490495C>G, NG_009204.1:g.8531C>G, NM_004870.4:c.524C>G, NM_004870.3:c.524C>G, NR_024603.1:n.735C>G, NM_001330073.1:c.466C>G, XM_006721598.4:c.667C>G, XM_006721598.3:c.667C>G, XM_006721598.2:c.667C>G, XM_006721598.1:c.667C>G, XM_006721597.3:c.405C>G, XM_006721597.2:c.405C>G, XM_006721597.1:c.405C>G, NP_004861.2:p.Thr175Ser, NP_001317002.1:p.Pro156Ala, XP_006721661.1:p.Pro223Ala, XP_006721660.1:p.His135Gln

Select item 147765885118.

rs1477658851 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:7583813 (GRCh38)
17:7487131 (GRCh37)
Canonical SPDI:: NC_000017.11:7583812:A:C,NC_000017.11:7583812:A:G
Gene:: MPDU1 (Varview), LOC100996842 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7583813A>C, NC_000017.11:g.7583813A>G, NC_000017.10:g.7487131A>C, NC_000017.10:g.7487131A>G, NG_009204.1:g.5167A>C, NG_009204.1:g.5167A>G, NR_024603.1:n.167A>C, NR_024603.1:n.167A>G, NM_001330073.1:c.-50A>C, NM_001330073.1:c.-50A>G, XM_006721598.4:c.-50A>C, XM_006721598.4:c.-50A>G, NM_004870.3:c.-50A>C, NM_004870.3:c.-50A>G, XM_006721597.3:c.-50A>C, XM_006721597.3:c.-50A>G

Select item 147736738819.

rs1477367388 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7587899 (GRCh38)
17:7491217 (GRCh37)
Canonical SPDI:: NC_000017.11:7587898:C:T
Gene:: SOX15 (Varview), MPDU1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
HGVS:: NC_000017.11:g.7587899C>T, NC_000017.10:g.7491217C>T, NG_009204.1:g.9253C>T, NM_004870.4:c.*348C>T, NM_004870.3:c.*348C>T, NR_024603.1:n.1303C>T, NM_001330073.1:c.*455C>T, XM_006721598.4:c.*455C>T, XM_006721598.3:c.*455C>T, XM_006721598.2:c.*455C>T, XM_006721598.1:c.*455C>T, XM_006721597.3:c.*190C>T, XM_006721597.2:c.*190C>T, XM_006721597.1:c.*190C>T

Select item 147631876620.

rs1476318766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:7583769 (GRCh38)
17:7487087 (GRCh37)
Canonical SPDI:: NC_000017.11:7583768:C:A
Gene:: MPDU1 (Varview), LOC100996842 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7583769C>A, NC_000017.10:g.7487087C>A, NG_009204.1:g.5123C>A, NR_024603.1:n.123C>A, NM_001330073.1:c.-94C>A, XM_006721598.4:c.-94C>A, NM_004870.3:c.-94C>A, XM_006721597.3:c.-94C>A

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