SNP Links for Nucleotide (Select 337756866) - SNP

Links from Nucleotide

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Select item 14883610401.

rs1488361040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49933132 (GRCh38)
19:50436389 (GRCh37)
Canonical SPDI:: NC_000019.10:49933131:C:T
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49933132C>T, NC_000019.9:g.50436389C>T, NG_021170.1:g.1374G>A, NG_023448.1:g.1600G>A, NM_012068.6:c.*40C>T, NM_012068.5:c.*40C>T, XM_011526629.4:c.*40C>T, XM_011526629.3:c.*40C>T, XM_011526629.2:c.*40C>T, XM_011526629.1:c.*40C>T, NM_001193646.2:c.*40C>T, NM_001193646.1:c.*40C>T, NM_001290746.2:c.*40C>T, NM_001290746.1:c.*40C>T, NR_039906.1:n.69C>T

Select item 14856235992.

rs1485623599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:49933118 (GRCh38)
19:50436375 (GRCh37)
Canonical SPDI:: NC_000019.10:49933117:G:T
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49933118G>T, NC_000019.9:g.50436375G>T, NG_021170.1:g.1388C>A, NG_023448.1:g.1614C>A, NM_012068.6:c.*26G>T, NM_012068.5:c.*26G>T, XM_011526629.4:c.*26G>T, XM_011526629.3:c.*26G>T, XM_011526629.2:c.*26G>T, XM_011526629.1:c.*26G>T, NM_001193646.2:c.*26G>T, NM_001193646.1:c.*26G>T, NM_001290746.2:c.*26G>T, NM_001290746.1:c.*26G>T, NR_039906.1:n.55G>T

Select item 14523040213.

rs1452304021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49933079 (GRCh38)
19:50436336 (GRCh37)
Canonical SPDI:: NC_000019.10:49933078:C:T
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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_000019.10:g.49933079C>T, NC_000019.9:g.50436336C>T, NG_021170.1:g.1427G>A, NG_023448.1:g.1653G>A, NM_012068.6:c.836C>T, NM_012068.5:c.836C>T, XM_011526629.4:c.836C>T, XM_011526629.3:c.836C>T, XM_011526629.2:c.836C>T, XM_011526629.1:c.836C>T, NM_001193646.2:c.836C>T, NM_001193646.1:c.836C>T, NM_001290746.2:c.836C>T, NM_001290746.1:c.836C>T, NR_039906.1:n.16C>T, NP_036200.2:p.Thr279Ile, XP_011524931.1:p.Thr279Ile, NP_001180575.1:p.Thr279Ile, NP_001277675.1:p.Thr279Ile

Select item 13940383104.

rs1394038310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49933076 (GRCh38)
19:50436333 (GRCh37)
Canonical SPDI:: NC_000019.10:49933075:G:A
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49933076G>A, NC_000019.9:g.50436333G>A, NG_021170.1:g.1430C>T, NG_023448.1:g.1656C>T, NM_012068.6:c.833G>A, NM_012068.5:c.833G>A, XM_011526629.4:c.833G>A, XM_011526629.3:c.833G>A, XM_011526629.2:c.833G>A, XM_011526629.1:c.833G>A, NM_001193646.2:c.833G>A, NM_001193646.1:c.833G>A, NM_001290746.2:c.833G>A, NM_001290746.1:c.833G>A, NR_039906.1:n.13G>A, NP_036200.2:p.Arg278Lys, XP_011524931.1:p.Arg278Lys, NP_001180575.1:p.Arg278Lys, NP_001277675.1:p.Arg278Lys

Select item 13657826875.

rs1365782687 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:49933097 (GRCh38)
19:50436355 (GRCh37)
Canonical SPDI:: NC_000019.10:49933097:C:CC
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000019.10:g.49933098dup, NC_000019.9:g.50436355dup, NG_021170.1:g.1408dup, NG_023448.1:g.1634dup, NM_012068.6:c.*6dup, NM_012068.5:c.*6dup, XM_011526629.4:c.*6dup, XM_011526629.3:c.*6dup, XM_011526629.2:c.*6dup, XM_011526629.1:c.*6dup, NM_001193646.2:c.*6dup, NM_001193646.1:c.*6dup, NM_001290746.2:c.*6dup, NM_001290746.1:c.*6dup, NR_039906.1:n.35dup

Select item 13425215686.

rs1342521568 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49933094 (GRCh38)
19:50436351 (GRCh37)
Canonical SPDI:: NC_000019.10:49933093:A:G
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.49933094A>G, NC_000019.9:g.50436351A>G, NG_021170.1:g.1412T>C, NG_023448.1:g.1638T>C, NM_012068.6:c.*2A>G, NM_012068.5:c.*2A>G, XM_011526629.4:c.*2A>G, XM_011526629.3:c.*2A>G, XM_011526629.2:c.*2A>G, XM_011526629.1:c.*2A>G, NM_001193646.2:c.*2A>G, NM_001193646.1:c.*2A>G, NM_001290746.2:c.*2A>G, NM_001290746.1:c.*2A>G, NR_039906.1:n.31A>G

Select item 13111282047.

rs1311128204 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:49933083 (GRCh38)
19:50436340 (GRCh37)
Canonical SPDI:: NC_000019.10:49933082:T:A
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49933083T>A, NC_000019.9:g.50436340T>A, NG_021170.1:g.1423A>T, NG_023448.1:g.1649A>T, NM_012068.6:c.840T>A, NM_012068.5:c.840T>A, XM_011526629.4:c.840T>A, XM_011526629.3:c.840T>A, XM_011526629.2:c.840T>A, XM_011526629.1:c.840T>A, NM_001193646.2:c.840T>A, NM_001193646.1:c.840T>A, NM_001290746.2:c.840T>A, NM_001290746.1:c.840T>A, NR_039906.1:n.20T>A

Select item 12646706758.

rs1264670675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49933130 (GRCh38)
19:50436387 (GRCh37)
Canonical SPDI:: NC_000019.10:49933129:C:T
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
HGVS:: NC_000019.10:g.49933130C>T, NC_000019.9:g.50436387C>T, NG_021170.1:g.1376G>A, NG_023448.1:g.1602G>A, NM_012068.6:c.*38C>T, NM_012068.5:c.*38C>T, XM_011526629.4:c.*38C>T, XM_011526629.3:c.*38C>T, XM_011526629.2:c.*38C>T, XM_011526629.1:c.*38C>T, NM_001193646.2:c.*38C>T, NM_001193646.1:c.*38C>T, NM_001290746.2:c.*38C>T, NM_001290746.1:c.*38C>T, NR_039906.1:n.67C>T

Select item 12194433289.

rs1219443328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49933096 (GRCh38)
19:50436353 (GRCh37)
Canonical SPDI:: NC_000019.10:49933095:G:A
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000019.10:g.49933096G>A, NC_000019.9:g.50436353G>A, NG_021170.1:g.1410C>T, NG_023448.1:g.1636C>T, NM_012068.6:c.*4G>A, NM_012068.5:c.*4G>A, XM_011526629.4:c.*4G>A, XM_011526629.3:c.*4G>A, XM_011526629.2:c.*4G>A, XM_011526629.1:c.*4G>A, NM_001193646.2:c.*4G>A, NM_001193646.1:c.*4G>A, NM_001290746.2:c.*4G>A, NM_001290746.1:c.*4G>A, NR_039906.1:n.33G>A

Select item 121355202110.

rs1213552021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:49933101 (GRCh38)
19:50436358 (GRCh37)
Canonical SPDI:: NC_000019.10:49933100:G:C
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49933101G>C, NC_000019.9:g.50436358G>C, NG_021170.1:g.1405C>G, NG_023448.1:g.1631C>G, NM_012068.6:c.*9G>C, NM_012068.5:c.*9G>C, XM_011526629.4:c.*9G>C, XM_011526629.3:c.*9G>C, XM_011526629.2:c.*9G>C, XM_011526629.1:c.*9G>C, NM_001193646.2:c.*9G>C, NM_001193646.1:c.*9G>C, NM_001290746.2:c.*9G>C, NM_001290746.1:c.*9G>C, NR_039906.1:n.38G>C

Select item 120943752811.

rs1209437528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:49933129 (GRCh38)
19:50436386 (GRCh37)
Canonical SPDI:: NC_000019.10:49933128:G:C
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000019.10:g.49933129G>C, NC_000019.9:g.50436386G>C, NG_021170.1:g.1377C>G, NG_023448.1:g.1603C>G, NM_012068.6:c.*37G>C, NM_012068.5:c.*37G>C, XM_011526629.4:c.*37G>C, XM_011526629.3:c.*37G>C, XM_011526629.2:c.*37G>C, XM_011526629.1:c.*37G>C, NM_001193646.2:c.*37G>C, NM_001193646.1:c.*37G>C, NM_001290746.2:c.*37G>C, NM_001290746.1:c.*37G>C, NR_039906.1:n.66G>C

Select item 102985475912.

rs1029854759 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:49933123 (GRCh38)
19:50436380 (GRCh37)
Canonical SPDI:: NC_000019.10:49933122:T:G
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.0033/6 (Korea1K)
T=0.5/1 (Siberian)
HGVS:: NC_000019.10:g.49933123T>G, NC_000019.9:g.50436380T>G, NG_021170.1:g.1383A>C, NG_023448.1:g.1609A>C, NM_012068.6:c.*31T>G, NM_012068.5:c.*31T>G, XM_011526629.4:c.*31T>G, XM_011526629.3:c.*31T>G, XM_011526629.2:c.*31T>G, XM_011526629.1:c.*31T>G, NM_001193646.2:c.*31T>G, NM_001193646.1:c.*31T>G, NM_001290746.2:c.*31T>G, NM_001290746.1:c.*31T>G, NR_039906.1:n.60T>G

Select item 96871791713.

rs968717917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49933064 (GRCh38)
19:50436321 (GRCh37)
Canonical SPDI:: NC_000019.10:49933063:C:T
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49933064C>T, NC_000019.9:g.50436321C>T, NG_021170.1:g.1442G>A, NG_023448.1:g.1668G>A, NM_012068.6:c.821C>T, NM_012068.5:c.821C>T, XM_011526629.4:c.821C>T, XM_011526629.3:c.821C>T, XM_011526629.2:c.821C>T, XM_011526629.1:c.821C>T, NM_001193646.2:c.821C>T, NM_001193646.1:c.821C>T, NM_001290746.2:c.821C>T, NM_001290746.1:c.821C>T, NR_039906.1:n.1C>T, NP_036200.2:p.Ala274Val, XP_011524931.1:p.Ala274Val, NP_001180575.1:p.Ala274Val, NP_001277675.1:p.Ala274Val

Select item 94891088314.

rs948910883 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:49933104 (GRCh38)
19:50436361 (GRCh37)
Canonical SPDI:: NC_000019.10:49933103:T:G
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
G=0.003821/7 (Korea1K)
HGVS:: NC_000019.10:g.49933104T>G, NC_000019.9:g.50436361T>G, NG_021170.1:g.1402A>C, NG_023448.1:g.1628A>C, NM_012068.6:c.*12T>G, NM_012068.5:c.*12T>G, XM_011526629.4:c.*12T>G, XM_011526629.3:c.*12T>G, XM_011526629.2:c.*12T>G, XM_011526629.1:c.*12T>G, NM_001193646.2:c.*12T>G, NM_001193646.1:c.*12T>G, NM_001290746.2:c.*12T>G, NM_001290746.1:c.*12T>G, NR_039906.1:n.41T>G

Select item 94412987315.

rs944129873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:49933078 (GRCh38)
19:50436335 (GRCh37)
Canonical SPDI:: NC_000019.10:49933077:A:T
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49933078A>T, NC_000019.9:g.50436335A>T, NG_021170.1:g.1428T>A, NG_023448.1:g.1654T>A, NM_012068.6:c.835A>T, NM_012068.5:c.835A>T, XM_011526629.4:c.835A>T, XM_011526629.3:c.835A>T, XM_011526629.2:c.835A>T, XM_011526629.1:c.835A>T, NM_001193646.2:c.835A>T, NM_001193646.1:c.835A>T, NM_001290746.2:c.835A>T, NM_001290746.1:c.835A>T, NR_039906.1:n.15A>T, NP_036200.2:p.Thr279Ser, XP_011524931.1:p.Thr279Ser, NP_001180575.1:p.Thr279Ser, NP_001277675.1:p.Thr279Ser

Select item 92861053616.

rs928610536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:49933135 (GRCh38)
19:50436392 (GRCh37)
Canonical SPDI:: NC_000019.10:49933134:G:C
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49933135G>C, NC_000019.9:g.50436392G>C, NG_021170.1:g.1371C>G, NG_023448.1:g.1597C>G, NM_012068.6:c.*43G>C, NM_012068.5:c.*43G>C, XM_011526629.4:c.*43G>C, XM_011526629.3:c.*43G>C, XM_011526629.2:c.*43G>C, XM_011526629.1:c.*43G>C, NM_001193646.2:c.*43G>C, NM_001193646.1:c.*43G>C, NM_001290746.2:c.*43G>C, NM_001290746.1:c.*43G>C, NR_039906.1:n.72G>C

Select item 77975505317.

rs779755053 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:49933106 (GRCh38)
19:50436363 (GRCh37)
Canonical SPDI:: NC_000019.10:49933102:GTGTG:GTG
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.00001/1 (ExAC)
-=0.000019/4 (GnomAD_exomes)
-=0.000023/6 (TOPMED)
-=0.000259/1 (ALSPAC)
-=0.00027/1 (TWINSUK)
HGVS:: NC_000019.10:g.49933104TG[1], NC_000019.9:g.50436361TG[1], NG_021170.1:g.1400AC[1], NG_023448.1:g.1626AC[1], NM_012068.6:c.*12TG[1], NM_012068.5:c.*12TG[1], XM_011526629.4:c.*12TG[1], XM_011526629.3:c.*12TG[1], XM_011526629.2:c.*12TG[1], XM_011526629.1:c.*12TG[1], NM_001193646.2:c.*12TG[1], NM_001193646.1:c.*12TG[1], NM_001290746.2:c.*12TG[1], NM_001290746.1:c.*12TG[1], NR_039906.1:n.41TG[1]

Select item 77834870718.

rs778348707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49933108 (GRCh38)
19:50436365 (GRCh37)
Canonical SPDI:: NC_000019.10:49933107:G:A
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00002/2 (ExAC)
HGVS:: NC_000019.10:g.49933108G>A, NC_000019.9:g.50436365G>A, NG_021170.1:g.1398C>T, NG_023448.1:g.1624C>T, NM_012068.6:c.*16G>A, NM_012068.5:c.*16G>A, XM_011526629.4:c.*16G>A, XM_011526629.3:c.*16G>A, XM_011526629.2:c.*16G>A, XM_011526629.1:c.*16G>A, NM_001193646.2:c.*16G>A, NM_001193646.1:c.*16G>A, NM_001290746.2:c.*16G>A, NM_001290746.1:c.*16G>A, NR_039906.1:n.45G>A

Select item 77515213619.

rs775152136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:49933136 (GRCh38)
19:50436393 (GRCh37)
Canonical SPDI:: NC_000019.10:49933135:C:G,NC_000019.10:49933135:C:T
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000088/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
G=0.000779/13 (TOMMO)
G=0.001027/3 (KOREAN)
HGVS:: NC_000019.10:g.49933136C>G, NC_000019.10:g.49933136C>T, NC_000019.9:g.50436393C>G, NC_000019.9:g.50436393C>T, NG_021170.1:g.1370G>C, NG_021170.1:g.1370G>A, NG_023448.1:g.1596G>C, NG_023448.1:g.1596G>A, NM_012068.6:c.*44C>G, NM_012068.6:c.*44C>T, NM_012068.5:c.*44C>G, NM_012068.5:c.*44C>T, XM_011526629.4:c.*44C>G, XM_011526629.4:c.*44C>T, XM_011526629.3:c.*44C>G, XM_011526629.3:c.*44C>T, XM_011526629.2:c.*44C>G, XM_011526629.2:c.*44C>T, XM_011526629.1:c.*44C>G, XM_011526629.1:c.*44C>T, NM_001193646.2:c.*44C>G, NM_001193646.2:c.*44C>T, NM_001193646.1:c.*44C>G, NM_001193646.1:c.*44C>T, NM_001290746.2:c.*44C>G, NM_001290746.2:c.*44C>T, NM_001290746.1:c.*44C>G, NM_001290746.1:c.*44C>T, NR_039906.1:n.73C>G, NR_039906.1:n.73C>T

Select item 77165823720.

rs771658237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:49933124 (GRCh38)
19:50436381 (GRCh37)
Canonical SPDI:: NC_000019.10:49933123:C:A
Gene:: ATF5 (Varview), MIR4751 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0./0 (ExAC)
HGVS:: NC_000019.10:g.49933124C>A, NC_000019.9:g.50436381C>A, NG_021170.1:g.1382G>T, NG_023448.1:g.1608G>T, NM_012068.6:c.*32C>A, NM_012068.5:c.*32C>A, XM_011526629.4:c.*32C>A, XM_011526629.3:c.*32C>A, XM_011526629.2:c.*32C>A, XM_011526629.1:c.*32C>A, NM_001193646.2:c.*32C>A, NM_001193646.1:c.*32C>A, NM_001290746.2:c.*32C>A, NM_001290746.1:c.*32C>A, NR_039906.1:n.61C>A

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